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 OR2B11 127623 broad.mit.edu 37 1 247614472 247614472 + Silent SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr1:247614472G>A uc010pyx.2 - 0 813 c.813C>T c.(811-813)tcC>tcT p.S271S NM_001004492 NP_001004492 Q5JQS5 OR2BB_HUMAN Homo sapiens olfactory receptor, family 2, subfamily B, member 11 (OR2B11), mRNA. 271 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 60 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) CCTGCTCTTGGGAGTAGCTGG 0.493000 73 45 0 0 0.000781405 0 0 NR1D2 9975 broad.mit.edu 37 3 23996194 23996194 + Silent SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr3:23996194C>T uc003ccs.2 + 1 502 c.183C>T c.(181-183)gcC>gcT p.A61A NR1D2_uc010hfd.2_Non-coding_Transcript|NR1D2_uc011awk.1_5'UTR NM_005126 NP_001138897 Q14995 NR1D2_HUMAN Homo sapiens nuclear receptor subfamily 1, group D, member 2 (NR1D2), transcript variant 1, mRNA. 61 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 22 GTGATCTCGCCAATATTGAAG 0.403000 50 17 0 0 0.000566183 0 0 RSPO4 343637 broad.mit.edu 37 20 947950 947950 + Silent SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr20:947950C>T uc002wej.3 - 2 376 c.276G>A c.(274-276)ggG>ggA p.G92G RSPO4_uc002wek.3_Silent_p.G92G NM_001029871 NP_001025042 Q2I0M5 RSPO4_HUMAN Homo sapiens R-spondin 4 (RSPO4), transcript variant 1, mRNA. 92 Wnt receptor signaling pathway extracellular region heparin binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 7 CACAAGTGGCCCCACATTCTG 0.612000 59 11 0 0 0.000978159 0 0 MECOM 2122 broad.mit.edu 37 3 168825738 168825738 + Silent SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr3:168825738G>A uc011bpj.1 - 9 2983 c.2580C>T c.(2578-2580)ttC>ttT p.F860F MECOM_uc010hwk.1_Intron|MECOM_uc003ffj.3_Silent_p.F737F|MECOM_uc003ffi.3_Silent_p.F672F|MECOM_uc011bpi.1_Intron|MECOM_uc003ffn.3_Silent_p.F672F|MECOM_uc003ffk.2_Intron|MECOM_uc003ffl.2_Intron|MECOM_uc011bpk.1_Silent_p.F672F|MECOM_uc010hwn.2_Intron NM_004991 NP_004982 Q13465 MDS1_HUMAN Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA. 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 CAGGCAGTTGGAACTGGGAGC 0.308000 64 11 0 0 0.000308642 0 0 ANKRD35 148741 broad.mit.edu 37 1 145562599 145562599 + Missense_Mutation SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr1:145562599C>T uc001eob.1 + 9 2395 c.2287C>T c.(2287-2289)Ccg>Tcg p.P763S ANKRD35_uc010oyx.1_Missense_Mutation_p.P606S NM_144698 NP_653299 Q8N283 ANR35_HUMAN Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA. 763 NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1) 47 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GTCCTTGTCCCCGTGTAGGGA 0.662000 4 3 0 0 6.4e-05 0 0 ANKRD26 22852 broad.mit.edu 37 10 27301996 27301997 + Missense_Mutation DNP CC TT TT TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr10:27301996_27301997CC>TT uc009xku.1 - 31 4939_4940 c.4767_4768GG>AA c.(4765-4770)gtggaa>gtAAaa p.E1590K ANKRD26_uc001itg.2_Missense_Mutation_p.E1276K|ANKRD26_uc001ith.2_Missense_Mutation_p.E1589K NM_014915 NP_055730 Q9UPS8 ANR26_HUMAN Homo sapiens ankyrin repeat domain 26 (ANKRD26), transcript variant 1, mRNA. 1589 centrosome breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2) 70 TGCTGTTTTTCCACAAGAAGTT 0.411000 18 7 0 0 6.4e-05 0 0 UPK1A 11045 broad.mit.edu 37 19 36166795 36166795 + Silent SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr19:36166795C>T uc010eeh.3 + 4 522 c.522C>T c.(520-522)gcC>gcT p.A174A UPK1A_uc002oaw.3_Silent_p.A174A|BC007817_uc002oax.1_5'Flank O00322 UPK1A_HUMAN Homo sapiens uroplakin 1A (UPK1A), mRNA. 174 epithelial cell differentiation|protein oligomerization endoplasmic reticulum|integral to membrane monosaccharide binding|protein homodimerization activity breast(1)|large_intestine(4)|lung(2)|stomach(2) 9 all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TCACGTCAGCCTTCCGGGCGG 0.642000 33 11 0 0 0.00010058 0 0 CNGA1 1259 broad.mit.edu 37 4 47938833 47938833 + Nonsense_Mutation SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr4:47938833G>A uc003gxu.3 - 9 2026 c.1885C>T c.(1885-1887)Cga>Tga p.R629* BC041434_uc003gxr.1_Intron|CNGA1_uc003gxt.4_Nonsense_Mutation_p.R560* NM_001142564 NP_000078 P29973 CNGA1_HUMAN Homo sapiens cyclic nucleotide gated channel alpha 1 (CNGA1), transcript variant 1, mRNA. 560 response to stimulus|visual perception integral to plasma membrane cGMP binding|ion channel activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1) 28 GCCGTTCTTCGATTGCCAGCT 0.453000 88 27 0 0 0.000878237 0 0 ERBB4 2066 broad.mit.edu 37 2 212495195 212495195 + Missense_Mutation SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr2:212495195C>T uc002veg.1 - 16 2169 c.2071G>A c.(2071-2073)Gaa>Aaa p.E691K ERBB4_uc002veh.1_Missense_Mutation_p.E691K|ERBB4_uc010zji.1_Missense_Mutation_p.E681K|ERBB4_uc010zjj.1_Missense_Mutation_p.E681K|ERBB4_uc010fut.1_Missense_Mutation_p.E691K NM_005235 NP_005226 Q15303 ERBB4_HUMAN Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA. 691 cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) ACCTCTGTTTCCAAGAATCTT 0.368000 TSP Lung(8;0.080) 99 55 0 0 0.000781405 0 0 SGCZ 137868 broad.mit.edu 37 8 13959999 13959999 + Silent SNP T G G TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr8:13959999T>G uc003wwq.3 - 6 1290 c.630A>C c.(628-630)tcA>tcC p.S210S SGCZ_uc010lss.3_Silent_p.S163S NM_139167 NP_631906 Q96LD1 SGCZ_HUMAN Homo sapiens sarcoglycan, zeta (SGCZ), mRNA. 197 cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 47 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) ATCTGGTGGGTGATTCAAGCC 0.403000 24 9 0 0 0.000274275 0 0 RXFP3 51289 broad.mit.edu 37 5 33938001 33938001 + Missense_Mutation SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr5:33938001C>T uc003jic.2 + 0 1511 c.1156C>T c.(1156-1158)Ccc>Tcc p.P386S NM_016568 NP_057652 Q9NSD7 RL3R1_HUMAN Homo sapiens relaxin/insulin-like family peptide receptor 3 (RXFP3), mRNA. 386 integral to plasma membrane N-formyl peptide receptor activity endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3) 42 CTGCCTCAACCCCGTCCTCTA 0.622000 71 14 0 0 0.000566183 0 0 PDCL3 79031 broad.mit.edu 37 2 101185457 101185457 + Silent SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr2:101185457G>A uc002tao.2 + 2 310 c.198G>A c.(196-198)gaG>gaA p.E66E NM_024065 NP_076970 Q9H2J4 PDCL3_HUMAN Homo sapiens phosducin-like 3 (PDCL3), mRNA. 66 apoptosis|interspecies interaction between organisms cytoplasm protein binding endometrium(3)|large_intestine(2)|liver(1)|lung(6) 12 TTAATGAGGAGGATGAACGTG 0.378000 58 7 0 0 8.12818e-05 0 0 NCOR2 9612 broad.mit.edu 37 12 124831179 124831179 + Silent SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr12:124831179G>A uc021rga.1 - 30 4428 c.4311C>T c.(4309-4311)cgC>cgT p.R1437R NCOR2_uc021rgb.1_Silent_p.R1421R|NCOR2_uc010tbb.2_Silent_p.R1430R|NCOR2_uc010tbc.2_Silent_p.R1420R|NCOR2_uc021rgc.1_Silent_p.R1420R|NCOR2_uc010tba.2_Silent_p.R1438R|NCOR2_uc001ugj.1_Silent_p.R1438R NM_006312 NP_006303 Q9Y618 NCOR2_HUMAN Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA. 1438 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity p.P1436L(1) breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) GCAGCTCCTCGCGCGGGATCT 0.726000 15 6 0 0 3.59834e-05 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A T T rs121913377 TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 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 34 54 0 0 0.000781405 0 0 PLK3 1263 broad.mit.edu 37 1 45270368 45270368 + Missense_Mutation SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr1:45270368G>A uc001cmn.3 + 12 1652 c.1552G>A c.(1552-1554)Gtg>Atg p.V518M NM_004073 NP_004064 Q9H4B4 PLK3_HUMAN Homo sapiens polo-like kinase 3 (PLK3), mRNA. 518 POLO box 1. membrane ATP binding|protein binding|protein serine/threonine kinase activity endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(166;0.155) CTCCTTCTCCGTGGGTGCTGT 0.617000 145 16 0 0 0.000132079 0 0 TAF4 6874 broad.mit.edu 37 20 60574057 60574057 + Silent SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr20:60574057G>A uc002ybs.3 - 11 2895 c.2895C>T c.(2893-2895)atC>atT p.I965I NM_003185 NP_003176 O00268 TAF4_HUMAN Homo sapiens TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa (TAF4), mRNA. 965 interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction MLL1 complex|cytoplasm|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(26;1e-08) BRCA - Breast invasive adenocarcinoma(19;3.1e-07) CCCTCATCAGGATCTCCCGCT 0.557000 196 71 0 0 0.000781405 0 0 FAM5C 339479 broad.mit.edu 37 1 190068163 190068163 + Missense_Mutation SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr1:190068163G>A uc001gse.1 - 7 1518 c.1286C>T c.(1285-1287)cCg>cTg p.P429L FAM5C_uc010pot.1_Missense_Mutation_p.P327L NM_199051 NP_950252 Q76B58 FAM5C_HUMAN Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA. 429 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) CTGGTCATTCGGACACGTGCA 0.597000 20 13 0 0 0.000151284 0 0 OR2D3 120775 broad.mit.edu 37 11 6943038 6943038 + Missense_Mutation SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr11:6943038G>A uc010rav.2 + 0 806 c.806G>A c.(805-807)gGg>gAg p.G269E NM_001004684 NP_001004684 Q8NGH3 OR2D3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily D, member 3 (OR2D3), mRNA. 269 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1) 27 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CTCTTCTATGGGTCAGGAATA 0.428000 39 19 0 0 0.000958276 0 0 KERA 11081 broad.mit.edu 37 12 91449722 91449722 + Missense_Mutation SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr12:91449722C>T uc001tbl.3 - 1 956 c.337G>A c.(337-339)Gaa>Aaa p.E113K NM_007035 NP_008966 O60938 KERA_HUMAN Homo sapiens keratocan (KERA), mRNA. 113 response to stimulus|visual perception proteinaceous extracellular matrix breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2) 19 GCTCCTTTTTCAATTCCGTAG 0.393000 63 33 0 0 0.00058488 0 0 CCDC67 159989 broad.mit.edu 37 11 93103239 93103239 + Splice_Site SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr11:93103239G>A uc001pdq.3 + 6 533 c.433_splice c.e6-1 p.E145_splice CCDC67_uc001pdo.1_Splice_Site_p.E145_splice|CCDC67_uc001pdp.3_Splice_Site_p.E145_splice NM_181645 NP_857596 Q05D60 CCD67_HUMAN Homo sapiens coiled-coil domain containing 67 (CCDC67), mRNA. 145 endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824) TTTTTAAAAGGAATTTAGAGC 0.299000 8 14 0 0 0.000308642 0 0 NOP14 8602 broad.mit.edu 37 4 2943972 2943972 + Silent SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr4:2943972G>A uc003ggj.1 - 13 2070 c.1998C>T c.(1996-1998)ctC>ctT p.L666L NOP14-AS1_uc003gge.1_Intron|NOP14-AS1_uc003ggh.3_Intron|NOP14-AS1_uc003ggi.1_Intron|NOP14_uc010icp.2_Splice_Site_p.R413_splice|NOP14_uc003ggl.3_Silent_p.L666L NM_003703 NP_003694 P78316 NOP14_HUMAN Homo sapiens NOP14 nucleolar protein homolog (yeast) (NOP14), mRNA. 666 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) Noc4p-Nop14p complex|mitochondrion|small-subunit processome snoRNA binding NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1) 30 TCGCCCAGCGGAGGGAGAGGC 0.627000 30 19 0 0 0.000175454 0 0 FBXL21 26223 broad.mit.edu 37 5 135272332 135272332 + RNA SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr5:135272332G>A uc021ydv.1 + 4 c.531G>A FBXL21_uc003lbc.3_Intron|FBXL21_uc021ydw.1_Non-coding_Transcript|FBXL21_uc021ydx.1_Non-coding_Transcript NM_012159 Q9UKT6 FXL21_HUMAN Homo sapiens F-box and leucine-rich repeat protein 21 (gene/pseudogene) (FBXL21), mRNA. rhythmic process ubiquitin ligase complex ubiquitin-protein ligase activity large_intestine(5)|lung(4) 9 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CCAGTTGTCAGGAGCAGCGAA 0.403000 57 40 0 0 0.000319135 0 0 FAM214A 56204 broad.mit.edu 37 15 52901928 52901928 + Missense_Mutation SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr15:52901928G>A uc010ugf.2 - 4 1338 c.1204C>T c.(1204-1206)Cca>Tca p.P402S FAM214A_uc002acg.4_Missense_Mutation_p.P395S|FAM214A_uc002ach.4_Non-coding_Transcript|FAM214A_uc010bfg.1_Missense_Mutation_p.P307S NM_019600 NP_062546 Q32MH5 K1370_HUMAN Homo sapiens family with sequence similarity 214, member A (FAM214A), mRNA. 395 GTATTAAATGGACGTCCAGAA 0.388000 64 21 0 0 0.000375601 0 0 RHBDL1 9028 broad.mit.edu 37 16 726311 726311 + Silent SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr16:726311C>T uc002cis.1 + 0 237 c.210C>T c.(208-210)gcC>gcT p.A70A RHBDL1_uc002cir.1_Intron|RHBDL1_uc010uun.1_Intron NM_003961 NP_003952 O75783 RHBL1_HUMAN Homo sapiens rhomboid, veinlet-like 1 (Drosophila) (RHBDL1), mRNA. 70 proteolysis|signal transduction integral to plasma membrane|membrane fraction calcium ion binding|serine-type endopeptidase activity endometrium(1)|kidney(1)|lung(4)|urinary_tract(3) 9 Hepatocellular(780;0.0218) GCACTCAGGCCTTGGCTGGCG 0.682000 7 5 0 0 0.000602214 0 0 SLC22A12 116085 broad.mit.edu 37 11 64359091 64359091 + Silent SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr11:64359091G>A uc001oam.1 + 0 810 c.63G>A c.(61-63)acG>acA p.T21T SLC22A12_uc009ypr.1_Silent_p.T21T|SLC22A12_uc001oal.1_Intron|SLC22A12_uc009yps.1_Silent_p.T21T|SLC22A12_uc001oan.1_Silent_p.T21T|SLC22A12_uc009ypt.3_5'Flank NM_144585 NP_700357 Q96S37 S22AC_HUMAN Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 12 (SLC22A12), transcript variant 1, mRNA. 21 cellular homeostasis|response to drug|urate metabolic process apical plasma membrane|brush border membrane|integral to membrane PDZ domain binding|urate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 TTCTCCAGACGATGGCTCTGA 0.622000 65 26 0 0 0.000339439 0 0 TOP1MT 116447 broad.mit.edu 37 8 144406278 144406278 + Missense_Mutation SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr8:144406278C>T uc003yxz.3 - 6 870 c.851G>A c.(850-852)cGa>cAa p.R284Q TOP1MT_uc011lkd.2_Missense_Mutation_p.R186Q|TOP1MT_uc011lke.2_Missense_Mutation_p.R186Q|TOP1MT_uc011lkf.2_Missense_Mutation_p.R79Q|TOP1MT_uc010mfd.1_Missense_Mutation_p.R79Q NM_052963 NP_443195 Q969P6 TOP1M_HUMAN Homo sapiens topoisomerase (DNA) I, mitochondrial (TOP1MT), nuclear gene encoding mitochondrial protein, mRNA. 284 DNA topological change chromosome|mitochondrial nucleoid ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|chromatin DNA binding endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 23 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) Irinotecan(DB00762)|Topotecan(DB01030) CCGCAGGCGTCGAGCTGTTTC 0.517000 108 11 0 0 0.000151284 0 0 KCNJ13 3769 broad.mit.edu 37 2 233635934 233635934 + Missense_Mutation SNP T G G TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr2:233635934T>G uc002vto.3 - 0 182 c.139A>C c.(139-141)Atc>Ctc p.I47L 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_Missense_Mutation_p.I47L|KCNJ13_uc002vtp.3_Missense_Mutation_p.I47L|KCNJ13_uc021vyk.1_Intron NM_001172417 NP_001165888 O60928 IRK13_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 13 (KCNJ13), transcript variant 3, mRNA. 47 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) TCCATTAGGATTCCCCAAGCA 0.488000 32 11 0 0 0.000673444 0 0 EED 8726 broad.mit.edu 37 11 85988165 85988165 + Missense_Mutation SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr11:85988165G>A uc001pbp.3 + 9 1576 c.1110G>A c.(1108-1110)atG>atA p.M370I EED_uc010rtm.2_Missense_Mutation_p.M370I|EED_uc001pbq.3_Missense_Mutation_p.M370I|EED_uc001pbr.3_Missense_Mutation_p.M395I|EED_uc010rtn.1_Non-coding_Transcript NM_003797 NP_003788 O75530 EED_HUMAN Homo sapiens embryonic ectoderm development (EED), transcript variant 1, mRNA. 370 Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex histone methyltransferase activity|identical protein binding haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 21 Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092) GGTTTTCTATGGATTTCTGGC 0.333000 104 6 0 0 0.000157383 0 0 PGM3 5238 broad.mit.edu 37 6 83892634 83892634 + Missense_Mutation SNP C T T rs73749732 byFrequency TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr6:83892634C>T uc011dyz.2 - 5 774 c.605G>A c.(604-606)cGa>cAa p.R202Q PGM3_uc003pju.2_Missense_Mutation_p.R174Q|PGM3_uc003pjw.3_Missense_Mutation_p.R93Q|PGM3_uc021zcd.1_Missense_Mutation_p.R174Q NM_001199917 NP_001186846 O95394 AGM1_HUMAN Homo sapiens phosphoglucomutase 3 (PGM3), transcript variant 1, mRNA. 174 UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine cytosol magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 18 all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068) BRCA - Breast invasive adenocarcinoma(397;0.0478) CTTTCCATATCGGCCACCCGT 0.403000 63 26 0 0 0.000279167 0 0 CNTN6 27255 broad.mit.edu 37 3 1424823 1424823 + Silent SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr3:1424823C>T uc003boz.3 + 17 2631 c.2364C>T c.(2362-2364)tcC>tcT p.S788S CNTN6_uc011asj.2_Silent_p.S716S|CNTN6_uc003bpa.3_Silent_p.S788S NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN Homo sapiens contactin 6 (CNTN6), mRNA. 788 Fibronectin type-III 2. Notch signaling pathway|axon guidance|cell adhesion|central nervous system development anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) GAGAAGGATCCCTGAGTACTG 0.428000 58 23 0 0 0.000720815 0 0 DNAH3 55567 broad.mit.edu 37 16 20996572 20996572 + Missense_Mutation SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr16:20996572C>T uc010vbe.2 - 47 7492 c.7492G>A c.(7492-7494)Gat>Aat p.D2498N DNAH3_uc010vbd.2_5'Flank NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 2498 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) AATGATTCATCCTTGATCTGG 0.517000 46 16 0 0 0.000566183 0 0 OR1S2 219958 broad.mit.edu 37 11 57970832 57970832 + Silent SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr11:57970832G>A uc010rkb.2 - 0 822 c.822C>T c.(820-822)ttC>ttT p.F274F NM_001004459 NP_001004459 Q8NGQ3 OR1S2_HUMAN Homo sapiens olfactory receptor, family 1, subfamily S, member 2 (OR1S2), mRNA. 274 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1) 46 Breast(21;0.0589) TGGAGGAGGGGAAAAAGTACA 0.483000 53 22 0 0 0.00047179 0 0 AHRR 57491 broad.mit.edu 37 5 434549 434549 + Missense_Mutation SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr5:434549C>T uc003jav.3 + 11 1803 c.1760C>T c.(1759-1761)aCc>aTc p.T587I AHRR_uc003jaw.3_Missense_Mutation_p.T569I|AHRR_uc010isy.3_Missense_Mutation_p.T415I|AHRR_uc010isz.3_Missense_Mutation_p.T565I|AHRR_uc003jax.3_Missense_Mutation_p.T328I|AHRR_uc003jay.3_Missense_Mutation_p.T425I|AHRR_uc003jaz.3_Missense_Mutation_p.T186I NM_020731 NP_065782 A9YTQ3 AHRR_HUMAN Homo sapiens aryl-hydrocarbon receptor repressor (AHRR), transcript variant 1, mRNA. 569 Needed for transcriptional repression (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1) 20 Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863) CACCCAGCCACCTTCCCTACC 0.642000 12 11 0 0 0.00010058 0 0 RPGRIP1 57096 broad.mit.edu 37 14 21792841 21792841 + Silent SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr14:21792841C>T uc001wag.3 + 13 1827 c.1827C>T c.(1825-1827)gcC>gcT p.A609A RPGRIP1_uc001wah.3_Silent_p.A251A|RPGRIP1_uc001wai.3_Intron|RPGRIP1_uc001waj.1_Silent_p.A74A|RPGRIP1_uc001wak.3_Silent_p.A84A|RPGRIP1_uc010aim.3_Intron|RPGRIP1_uc001wal.3_Missense_Mutation_p.P18L|RPGRIP1_uc001wam.3_5'UTR NM_020366 NP_065099 Q96KN7 RPGR1_HUMAN Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA. 609 response to stimulus|visual perception cilium breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1) 39 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) CACTGCCAGCCCATGGAGATG 0.493000 69 27 0 0 0.000227799 0 0 ZNF618 114991 broad.mit.edu 37 9 116811400 116811400 + Silent SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr9:116811400C>T uc004bid.3 + 14 1917 c.1818C>T c.(1816-1818)ttC>ttT p.F606F ZNF618_uc004bic.3_Silent_p.F513F|ZNF618_uc011lxi.2_Silent_p.F573F|ZNF618_uc011lxj.2_Silent_p.F574F|ZNF618_uc010mvb.3_Silent_p.F196F NM_133374 NP_588615 Q5T7W0 ZN618_HUMAN Homo sapiens zinc finger protein 618 (ZNF618), mRNA. 606 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.F606F(1)|p.F513F(1) breast(1)|endometrium(4)|lung(10)|urinary_tract(1) 16 TGTCGGAGTTCGTGATGTCGG 0.597000 26 33 0 0 0.000228196 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140256848 140256848 + Silent SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr5:140256848G>A uc003lic.2 + 0 1918 c.1791G>A c.(1789-1791)gtG>gtA p.V597V PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Silent_p.V597V NM_018903 NP_061726 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA. 610 Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.R596Q(1) 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) TGCGCGCGGTGGACGCTGACT 0.682000 50 27 0 0 0.000878237 0 0 SPATA19 219938 broad.mit.edu 37 11 133714222 133714222 + Missense_Mutation SNP T G G TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr11:133714222T>G uc001qgv.1 - 3 329 c.278A>C c.(277-279)cAc>cCc p.H93P NM_174927 NP_777587 Q7Z5L4 SPT19_HUMAN Homo sapiens spermatogenesis associated 19 (SPATA19), mRNA. 93 cell differentiation|multicellular organismal development|spermatogenesis mitochondrial outer membrane cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1) 11 all_hematologic(175;0.127) all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117) Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207) CTTAGAGAGGTGGTGCTTCAC 0.557000 56 6 0 0 3.59834e-05 0 0 PQLC2 54896 broad.mit.edu 37 1 19644249 19644249 + Missense_Mutation SNP G T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr1:19644249G>T uc001bby.3 + 2 430 c.78G>T c.(76-78)ttG>ttT p.L26F PQLC2_uc001bca.3_Missense_Mutation_p.L26F|PQLC2_uc001bbz.3_Intron|PQLC2_uc001bcb.3_Intron|PQLC2_uc021ohq.1_Non-coding_Transcript NM_017765 NP_001035215 Q6ZP29 PQLC2_HUMAN Homo sapiens PQ loop repeat containing 2 (PQLC2), transcript variant 2, mRNA. 26 integral to membrane haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1) 10 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GGGATGTGTTGGGTGAATGTG 0.607000 277 9 0.000442599 0.0053977 0.000442599 1 0 GPR161 23432 broad.mit.edu 37 1 168065750 168065750 + Silent SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr1:168065750G>A uc010pln.2 - 3 1689 c.1155C>T c.(1153-1155)atC>atT p.I385I GPR161_uc001gfb.3_Silent_p.I233I|GPR161_uc001gfc.3_Silent_p.I365I|GPR161_uc010pll.2_Silent_p.I275I|GPR161_uc010plm.2_Silent_p.I251I|GPR161_uc009wvo.3_Silent_p.I382I|GPR161_uc001gfd.3_Silent_p.I365I|GPR161_uc001gfe.1_Silent_p.I365I NM_153832 NP_722561 Q8N6U8 GP161_HUMAN Homo sapiens G protein-coupled receptor 161 (GPR161), transcript variant 2, mRNA. 365 multicellular organismal development integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1) 26 all_hematologic(923;0.215) AGTTACCTGTGATCCTGTTGG 0.522000 29 13 0 0 0.000308642 0 0 CSMD3 114788 broad.mit.edu 37 8 113332163 113332163 + Missense_Mutation SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr8:113332163C>T uc003ynu.3 - 45 7372 c.7213G>A c.(7213-7215)Gaa>Aaa p.E2405K CSMD3_uc003yns.3_Missense_Mutation_p.E1607K|CSMD3_uc003ynt.3_Missense_Mutation_p.E2365K|CSMD3_uc011lhx.2_Missense_Mutation_p.E2301K|CSMD3_uc003ynw.1_Missense_Mutation_p.E116K NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 2405 Sushi 13. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GTCAAAATTTCAGCATTGGGC 0.363000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 63 28 0 0 0.000491102 0 0 TCP10L2 401285 broad.mit.edu 37 6 167591993 167591993 + Missense_Mutation SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr6:167591993C>T uc010kkp.3 + 4 751 c.620C>T c.(619-621)cCc>cTc p.P207L NM_001145121 NP_001138593 B9ZVM9 B9ZVM9_HUMAN Homo sapiens t-complex 10-like 2 (mouse) (TCP10L2), mRNA. 207 endometrium(1)|kidney(2)|lung(3) 6 AGGCCGACTCCCGGTGCAGAA 0.522000 76 17 0 0 0.000295444 0 0 CNTN4 152330 broad.mit.edu 37 3 2967415 2967415 + Missense_Mutation SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr3:2967415C>T uc003bpc.3 + 12 1649 c.1310C>T c.(1309-1311)cCt>cTt p.P437L CNTN4_uc003bpb.1_Missense_Mutation_p.P109L|CNTN4_uc021wsg.1_Missense_Mutation_p.P437L|CNTN4_uc003bpd.1_Missense_Mutation_p.P437L|CNTN4_uc003bpe.3_Missense_Mutation_p.P109L|CNTN4_uc003bpf.3_Missense_Mutation_p.P109L NM_175607 NP_783302 Q8IWV2 CNTN4_HUMAN Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA. 437 Ig-like C2-type 5. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) TCTCCAAAACCTGTTTACACC 0.358000 92 38 0 0 0.000953801 0 0 IPO9 55705 broad.mit.edu 37 1 201839883 201839883 + Missense_Mutation SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr1:201839883C>T uc001gwz.3 + 17 2356 c.2306C>T c.(2305-2307)aCc>aTc p.T769I NM_018085 NP_060555 Q96P70 IPO9_HUMAN Homo sapiens importin 9 (IPO9), mRNA. 769 protein import into nucleus cytoplasm|nucleus histone binding|protein transporter activity cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 38 CTTGTTTCCACCCTCATCTCC 0.582000 58 10 0 0 0.000673444 0 0 PKHD1 5314 broad.mit.edu 37 6 51890761 51890761 + Missense_Mutation SNP A G G TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr6:51890761A>G uc003pah.1 - 31 4123 c.3847T>C c.(3847-3849)Tca>Cca p.S1283P PKHD1_uc003pai.3_Missense_Mutation_p.S1283P NM_138694 NP_619639 P08F94 PKHD1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA. 1283 IPT/TIG 7. S -> L. cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) AAGCTTGGTGAAGGACCACGG 0.582000 19 14 0 0 0.000308642 0 0 ZNF208 7757 broad.mit.edu 37 19 22155631 22155631 + Silent SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr19:22155631G>A uc021urr.1 - 3 2354 c.2205C>T c.(2203-2205)gtC>gtT p.V735V ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 Homo sapiens zinc finger protein 208 (ZNF208), mRNA. breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) GTTTAGTAAGGACTGAGAATG 0.378000 42 20 0 0 0.000295444 0 0 TULP1 7287 broad.mit.edu 37 6 35467845 35467845 + Missense_Mutation SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr6:35467845C>T uc003okv.4 - 13 1420 c.1408G>A c.(1408-1410)Gat>Aat p.D470N TEAD3_uc003oku.4_5'Flank|TEAD3_uc010jvx.3_5'Flank|TULP1_uc003okw.4_Missense_Mutation_p.D417N NM_003322 NP_003313 O00294 TULP1_HUMAN Homo sapiens tubby like protein 1 (TULP1), mRNA. 470 dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse actin filament binding|phosphatidylinositol-4,5-bisphosphate binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 19 CCACTGTCATCGTTCCAGACA 0.592000 56 32 0 0 0.000491102 0 0 EFHC1 114327 broad.mit.edu 37 6 52344502 52344502 + Silent SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr6:52344502C>T uc003pap.4 + 8 1772 c.1557C>T c.(1555-1557)aaC>aaT p.N519N EFHC1_uc011dwv.1_Silent_p.N428N|EFHC1_uc011dww.2_Silent_p.N500N NM_018100 NP_060570 Q5JVL4 EFHC1_HUMAN Homo sapiens EF-hand domain (C-terminal) containing 1 (EFHC1), transcript variant A, mRNA. 519 DM10 3. axoneme|neuronal cell body calcium ion binding|protein C-terminus binding breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 27 Lung NSC(77;0.109) TGGAGAGCAACGCTGCCCAGT 0.478000 44 23 0 0 0.00047179 0 0 OSM 5008 broad.mit.edu 37 22 30662782 30662782 + Missense_Mutation SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr22:30662782C>T uc003ahb.3 - 0 48 c.7G>A c.(7-9)Gta>Ata p.V3I NM_020530 NP_065391 P13725 ONCM_HUMAN Homo sapiens oncostatin M (OSM), mRNA. 3 cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of MAPKKK cascade|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth extracellular space|oncostatin-M receptor complex cytokine activity|growth factor activity|oncostatin-M receptor binding breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3) 11 Epithelial(10;0.206) GTGAGCAGTACCCCCATGCTG 0.701000 21 15 0 0 0.000308642 0 0 EOMES 8320 broad.mit.edu 37 3 27760930 27760930 + Missense_Mutation SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr3:27760930G>A uc003cdy.3 - 2 1079 c.1079C>T c.(1078-1080)tCc>tTc p.S360F EOMES_uc003cdx.3_Missense_Mutation_p.S360F|EOMES_uc010hfn.2_Missense_Mutation_p.S360F|EOMES_uc011axc.1_Missense_Mutation_p.S65F NM_005442 NP_005433 O95936 EOMES_HUMAN Homo sapiens eomesodermin (EOMES), mRNA. 360 CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1) 21 CATCCAGTGGGAACCAGTATT 0.413000 69 33 0 0 0.000814825 0 0 OR2V2 285659 broad.mit.edu 37 5 180582353 180582353 + Missense_Mutation SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr5:180582353G>A uc011dhj.2 + 0 411 c.411G>A c.(409-411)atG>atA p.M137I NM_206880 NP_996763 Q96R30 OR2V2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily V, member 2 (OR2V2), mRNA. 137 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L136L(1) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCATCCTCATGAATCAGAGGG 0.507000 56 16 0 0 0.000422831 0 0 MYO5B 4645 broad.mit.edu 37 18 47375947 47375947 + Missense_Mutation SNP C A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr18:47375947C>A uc002leb.2 - 31 4593 c.4305G>T c.(4303-4305)caG>caT p.Q1435H MYO5B_uc002ldz.3_Missense_Mutation_p.Q5H|MYO5B_uc002lea.2_Missense_Mutation_p.Q550H NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN Homo sapiens myosin VB (MYO5B), mRNA. 1435 protein transport myosin complex ATP binding|actin binding|calmodulin binding|motor activity p.Q1435K(1) 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) CTTCTAGGTCCTGGGCTTTCT 0.488000 198 8 0.000274275 0.00336018 0.000274275 1 0 PNLIPRP1 5407 broad.mit.edu 37 10 118354289 118354289 + Silent SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr10:118354289G>A uc001lco.1 + 4 396 c.378G>A c.(376-378)aaG>aaA p.K126K PNLIPRP1_uc001lcp.2_Silent_p.K126K|PNLIPRP1_uc009xys.1_Non-coding_Transcript NM_006229 NP_006220 P54315 LIPR1_HUMAN Homo sapiens pancreatic lipase-related protein 1 (PNLIPRP1), mRNA. 126 lipid metabolic process calcium ion binding|triglyceride lipase activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 38 all cancers(201;0.0161) TGGACTGGAAGAAGGGCTCCC 0.592000 35 22 0 0 0.000586117 0 0 ILDR2 387597 broad.mit.edu 37 1 166891843 166891843 + Missense_Mutation SNP T A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr1:166891843T>A uc001gdx.2 - 7 1254 c.1198A>T c.(1198-1200)Agc>Tgc p.S400C NM_199351 NP_955383 Q71H61 ILDR2_HUMAN Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA. 400 integral to membrane NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 22 TGCCTGAAGCTCTCTCGATCC 0.597000 142 50 0 0 0.000781405 0 0 STL 7955 broad.mit.edu 37 6 125231602 125231602 + RNA SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr6:125231602C>T uc003pzq.3 - 6 c.3132G>A Homo sapiens six-twelve leukemia (STL), non-coding RNA. TTCATTAATCCTTAAGTACTT 0.259000 T ETV6 B-ALL 5 4 0 0 0.00024832 0 0 OR8D1 283159 broad.mit.edu 37 11 124180013 124180013 + Missense_Mutation SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr11:124180013G>A uc010sag.2 - 0 650 c.650C>T c.(649-651)tCc>tTc p.S217F NM_001002917 NP_001002917 Q8WZ84 OR8D1_HUMAN Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA. 217 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) GAAGGCATAGGAGACAGCAAC 0.512000 20 10 0 0 0.000673444 0 0 BOLL 66037 broad.mit.edu 37 2 198640397 198640397 + Missense_Mutation SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr2:198640397C>T uc002uuu.1 - 4 741 c.362G>A c.(361-363)gGg>gAg p.G121E BOLL_uc002uur.2_Missense_Mutation_p.G121E|BOLL_uc002uus.2_Missense_Mutation_p.G115E|BOLL_uc002uut.2_Missense_Mutation_p.G127E|BOLL_uc010zha.1_Intron NM_033030 NP_149019 Q8N9W6 BOLL_HUMAN Homo sapiens bol, boule-like (Drosophila) (BOLL), transcript variant 2, mRNA. 115 cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis cytoplasm RNA binding|nucleotide binding|protein binding|translation activator activity central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1) 13 ACGAGGGATCCCTACTTGTTG 0.244000 97 9 0 0 0.00010058 0 0 GTF2H4 2968 broad.mit.edu 37 6 30880133 30880133 + Silent SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr6:30880133C>T uc003nsa.1 + 10 1194 c.987C>T c.(985-987)gcC>gcT p.A329A VARS2_uc003nsc.2_5'Flank|VARS2_uc003nsd.3_5'Flank|VARS2_uc011dmx.2_5'Flank|VARS2_uc011dmy.2_5'Flank|VARS2_uc011dmz.2_5'Flank|VARS2_uc011dna.2_5'Flank|VARS2_uc011dnb.2_5'Flank|VARS2_uc011dnc.2_5'Flank NM_001517 NP_001508 Q92759 TF2H4_HUMAN Homo sapiens general transcription factor IIH, polypeptide 4, 52kDa (GTF2H4), mRNA. 329 mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex protein binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 11 CCCTCATTGCCCTCTTCTCTG 0.592000 Nucleotide excision repair (NER) 50 21 0 0 0.000375601 0 0 CORO7-PAM16 100529144 broad.mit.edu 37 16 4408077 4408077 + Missense_Mutation SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr16:4408077G>A uc002cwf.3 - 24 2928 c.2485C>T c.(2485-2487)Cca>Tca p.P829S CORO7-PAM16_uc002cwe.3_Non-coding_Transcript|CORO7-PAM16_uc002cwg.4_Missense_Mutation_p.P609S|CORO7-PAM16_uc002cwh.4_Missense_Mutation_p.P829S|CORO7-PAM16_uc010uxh.2_Missense_Mutation_p.P811S|CORO7-PAM16_uc010uxi.2_Missense_Mutation_p.P744S|CORO7-PAM16_uc002cwi.1_3'UTR NM_001201479 NP_001188408 Homo sapiens CORO7-PAM16 readthrough (CORO7-PAM16), mRNA. GCCGTGTCTGGGAACACGTCA 0.612000 35 12 0 0 0.000151284 0 0 AMIGO1 57463 broad.mit.edu 37 1 110051061 110051061 + Silent SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr1:110051061G>A uc021org.1 - 0 474 c.474C>T c.(472-474)gcC>gcT p.A158A AMIGO1_uc001dxx.4_Silent_p.A158A NM_020703 NP_065754 Q86WK6 AMGO1_HUMAN Homo sapiens adhesion molecule with Ig-like domain 1 (AMIGO1), mRNA. 158 axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis axon|integral to membrane autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227) TCTGCAGCTGGGCCATGTCAT 0.542000 60 33 0 0 0.000409698 0 0 TGFBRAP1 9392 broad.mit.edu 37 2 105924152 105924152 + Missense_Mutation SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr2:105924152G>A uc002tcq.3 - 1 691 c.607C>T c.(607-609)Ccc>Tcc p.P203S TGFBRAP1_uc002tcr.4_Missense_Mutation_p.P203S NM_004257 NP_004248 Q8WUH2 TGFA1_HUMAN Homo sapiens transforming growth factor, beta receptor associated protein 1 (TGFBRAP1), transcript variant 1, mRNA. 203 CNH. regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|membrane SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 31 CTGCAGTAGGGAAACAGGTCC 0.607000 112 8 0 0 0.000157383 0 0 ANK1 286 broad.mit.edu 37 8 41571691 41571691 + Missense_Mutation SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr8:41571691G>A uc003xok.3 - 15 1867 c.1783C>T c.(1783-1785)Ccg>Tcg p.P595S NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.3_Missense_Mutation_p.P595S|ANK1_uc003xoj.3_Missense_Mutation_p.P595S|ANK1_uc003xol.3_Missense_Mutation_p.P595S|ANK1_uc003xom.3_Missense_Mutation_p.P628S NM_020476 NP_065209 P16157 ANK1_HUMAN Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA. 595 89 kDa domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) GGGCTGTGCGGGGAGCCGCCC 0.662000 19 13 0 0 0.000308642 0 0 KCTD8 386617 broad.mit.edu 37 4 44177124 44177124 + Missense_Mutation SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr4:44177124G>A uc003gwu.3 - 1 1389 c.1105C>T c.(1105-1107)Ccc>Tcc p.P369S NM_198353 NP_938167 Q6ZWB6 KCTD8_HUMAN Homo sapiens potassium channel tetramerisation domain containing 8 (KCTD8), mRNA. 369 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4) 41 TTGTCCTGGGGAGTGCTTGCC 0.483000 HNSCC(17;0.042) 69 10 0 0 0.000673444 0 0 ZNF225 7768 broad.mit.edu 37 19 44635878 44635878 + Missense_Mutation SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr19:44635878C>T uc002oyj.1 + 4 1354 c.1111C>T c.(1111-1113)Cca>Tca p.P371S ZNF225_uc010ejf.1_Missense_Mutation_p.P371S NM_013362 NP_037494 Q9UK10 ZN225_HUMAN Homo sapiens zinc finger protein 225 (ZNF225), mRNA. 371 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1) 16 Prostate(69;0.0352)|all_neural(266;0.202) AGGGGAGAAGCCATATAATTG 0.428000 45 30 0 0 0.00106085 0 0 MAP2K1 5604 broad.mit.edu 37 15 66729162 66729162 + Missense_Mutation SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr15:66729162C>T uc010bhq.3 + 2 845 c.370C>T c.(370-372)Ccg>Tcg p.P124S MAP2K1_uc010ujp.2_Missense_Mutation_p.P102S NM_002755 NP_002746 Q02750 MP2K1_HUMAN Homo sapiens mitogen-activated protein kinase kinase 1 (MAP2K1), mRNA. 124 Protein kinase. MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|plasma membrane ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity p.P124S(12) endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1) 20 GTGCAACTCTCCGTACATCGT 0.507000 39 6 0 0 3.59834e-05 0 0 DLG1 1739 broad.mit.edu 37 3 196786775 196786775 + Missense_Mutation SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr3:196786775G>A uc010ial.3 - 23 2760 c.2501C>T c.(2500-2502)tCc>tTc p.S834F DLG1_uc011bub.2_Missense_Mutation_p.S730F|DLG1_uc011buc.2_Missense_Mutation_p.S718F|DLG1_uc011bud.2_Missense_Mutation_p.S517F|DLG1_uc003fxo.4_Missense_Mutation_p.S834F|DLG1_uc003fxn.4_Missense_Mutation_p.S856F|DLG1_uc011bue.2_Missense_Mutation_p.S822F NM_001098424 NP_001091894 Q12959 DLG1_HUMAN Homo sapiens discs, large homolog 1 (Drosophila) (DLG1), transcript variant 1, mRNA. 834 Guanylate kinase-like. actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly MPP7-DLG1-LIN7 complex|basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction L27 domain binding|cytoskeletal protein binding|guanylate kinase activity|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein C-terminus binding|protein binding|protein kinase binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589) Lung NSC(153;0.133) Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0148) ATTTTCCATGGATTTGGGTTT 0.373000 48 17 0 0 0.000958276 0 0 MGAT4C 25834 broad.mit.edu 37 12 86373699 86373699 + Missense_Mutation SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr12:86373699G>A uc010sum.2 - 5 1036 c.877C>T c.(877-879)Ctc>Ttc p.L293F MGAT4C_uc001tal.4_Missense_Mutation_p.L269F|MGAT4C_uc001taj.4_Missense_Mutation_p.L269F|MGAT4C_uc001tak.4_Missense_Mutation_p.L269F|MGAT4C_uc001tai.4_Missense_Mutation_p.L269F|MGAT4C_uc001tah.4_Missense_Mutation_p.L269F NM_013244 NP_037376 Q9UBM8 MGT4C_HUMAN Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) (MGAT4C), mRNA. 269 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 AAACGTGGGAGATCATGAGAA 0.388000 34 18 0 0 0.000958276 0 0 LMTK3 114783 broad.mit.edu 37 19 49000720 49000720 + Missense_Mutation SNP C A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr19:49000720C>A uc002pjk.3 - 11 3693 c.3693G>T c.(3691-3693)agG>agT p.R1231S NM_001080434 NP_001073903 Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA. breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1) 16 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231) CGGGGCCCTTCCTCTCGGGCT 0.701000 29 10 2.68362e-12 3.3334e-11 0.00010058 1 0 CNKSR1 10256 broad.mit.edu 37 1 26509700 26509700 + Missense_Mutation SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr1:26509700C>T uc001bln.4 + 6 695 c.637C>T c.(637-639)Cac>Tac p.H213Y CNKSR1_uc010oex.1_Non-coding_Transcript|CNKSR1_uc001blm.4_Missense_Mutation_p.H213Y|CNKSR1_uc009vsd.3_5'UTR|CNKSR1_uc009vse.3_5'UTR NM_006314 NP_006305 Q969H4 CNKR1_HUMAN Homo sapiens connector enhancer of kinase suppressor of Ras 1 (CNKSR1), transcript variant 1, mRNA. 213 PDZ. Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cell cortex|cell-cell junction protein binding, bridging breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 28 Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649) CCTAGAAATTCACACCACCAG 0.622000 119 49 0 0 0.000781405 0 0 NPHP1 4867 broad.mit.edu 37 2 110919263 110919263 + Nonsense_Mutation SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr2:110919263G>A uc002tfn.4 - 9 1130 c.1036C>T c.(1036-1038)Cga>Tga p.R346* NPHP1_uc002tfm.4_Nonsense_Mutation_p.R291*|NPHP1_uc002tfl.4_Nonsense_Mutation_p.R347*|NPHP1_uc002tfo.4_Nonsense_Mutation_p.R228*|NPHP1_uc010ywx.2_Nonsense_Mutation_p.R290*|NPHP1_uc010fjv.1_Nonsense_Mutation_p.R290* NM_207181 NP_997064 O15259 NPHP1_HUMAN Homo sapiens nephronophthisis 1 (juvenile) (NPHP1), transcript variant 2, mRNA. 346 actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium protein binding|structural molecule activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2) 24 TAATTTGCTCGAAATTGATTC 0.353000 32 12 0 0 0.000219431 0 0 BRD1 23774 broad.mit.edu 37 22 50217902 50217902 + Missense_Mutation SNP C A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr22:50217902C>A uc011arg.2 - 0 78 c.64G>T c.(64-66)Gtt>Ttt p.V22F BRD1_uc011arf.2_5'UTR|BRD1_uc021wrv.1_Non-coding_Transcript|BRD1_uc003biv.3_Missense_Mutation_p.V22F|BRD1_uc021wrw.1_Non-coding_Transcript|BRD1_uc003biu.4_Missense_Mutation_p.V22F NM_014577 NP_055392 O95696 BRD1_HUMAN Homo sapiens bromodomain containing 1 (BRD1), mRNA. 22 histone H3 acetylation MOZ/MORF histone acetyltransferase complex zinc ion binding endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 37 all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21) GAGTGTTTAACACTGCATGGG 0.463000 63 40 3.43241e-23 4.28333e-22 0.000437636 1 0 ZMIZ2 83637 broad.mit.edu 37 7 44798879 44798879 + Splice_Site SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr7:44798879G>A uc003tlr.3 + 7 937 c.814_splice c.e7-1 p.V272_splice ZMIZ2_uc003tlq.3_Splice_Site_p.V240_splice|ZMIZ2_uc003tls.3_Splice_Site_p.V272_splice|ZMIZ2_uc003tlt.3_5'Flank|ZMIZ2_uc010kyj.3_5'Flank NM_031449 NP_113637 Q8NF64 ZMIZ2_HUMAN Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA. 272 Pro-rich. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear replication fork ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 CTCTTTTTCAGGTGTATCCAG 0.597000 130 44 0 0 0.000781405 0 0 XIRP2 129446 broad.mit.edu 37 2 168103609 168103609 + Missense_Mutation SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr2:168103609G>A uc002udx.3 + 8 5796 c.5707G>A c.(5707-5709)Gaa>Aaa p.E1903K XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.E1728K|XIRP2_uc010fpq.3_Missense_Mutation_p.E1681K|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 1728 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 TGAATGCCTTGAAAAAGCTAC 0.378000 37 19 0 0 0.000175454 0 0 TP53 7157 broad.mit.edu 37 17 7577539 7577540 + Missense_Mutation DNP GG AA AA rs121912651 TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr17:7577539_7577540GG>AA uc002gim.2 - 6 935_936 c.741_742CC>TT c.(739-744)aaccgg>aaTTgg p.R248W TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.3_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank NM_001126112 NP_001119587 P04637 P53_HUMAN Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA. 248 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R248W(1057)|p.R248Q(565)|p.R248L(70)|p.R155W(28)|p.R248G(24)|p.N247N(20)|p.R248P(16)|p.R248R(12)|p.0?(8)|p.N247S(7)|p.N247D(5)|p.?(5)|p.M246_P250delMNRRP(4)|p.N247K(4)|p.N247_R248>KW(4)|p.N247I(4)|p.N247_R248delNR(4)|p.N247T(4)|p.R248fs*97(4)|p.N247Y(3)|p.R248fs*16(3)|p.N247_P250delNRRP(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248C(2)|p.N247_R248>IP(2)|p.R248fs*>39(1)|p.unknown(1)|p.N247F(1)|p.N247fs*98(1)|p.R248Y(1)|p.G245fs*14(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ATGGGCCTCCGGTTCATGCCGC 0.574000 R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE) 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 45 14 0 0 6.4e-05 0 0 NLGN4Y 22829 broad.mit.edu 37 Y 16952557 16952557 + Silent SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chrY:16952557C>T uc011nas.1 + 6 2105 c.1926C>T c.(1924-1926)ccC>ccT p.P642P NLGN4Y_uc004fte.2_Silent_p.P454P|NLGN4Y_uc004ftg.2_Silent_p.P622P|NLGN4Y_uc004ftf.2_Silent_p.P315P|NLGN4Y_uc004fth.2_Silent_p.P622P NM_001206850 NP_001193779 Q8NFZ3 NLGNY_HUMAN Homo sapiens neuroligin 4, Y-linked (NLGN4Y), transcript variant 3, mRNA. 622 brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|integral to plasma membrane|synapse neurexin binding|receptor activity large_intestine(3)|lung(7)|prostate(2)|skin(2) 14 CATCATTTCCCTATGGCACCC 0.483000 62 7 0 0 0.000229342 0 0 ZNF720 124411 broad.mit.edu 37 16 31734610 31734610 + Silent SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr16:31734610C>T uc002ecq.3 + 2 363 c.168C>T c.(166-168)acC>acT p.T56T ZNF720_uc010vfs.2_5'UTR|ZNF720_uc002ecn.4_Silent_p.T54T|ZNF720_uc002ecp.1_Intron Q7Z2F6 ZN720_HUMAN Homo sapiens zinc finger protein 720 (ZNF720), mRNA. 54 KRAB. regulation of transcription, DNA-dependent intracellular nucleic acid binding endometrium(1)|kidney(1)|lung(1)|stomach(1) 4 ACCTGATCACCTTTTTGGAGC 0.478000 11 3 0 0 6.4e-05 0 0 BDKRB2 624 broad.mit.edu 37 14 96707538 96707538 + Silent SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr14:96707538C>T uc010avm.1 + 2 1069 c.873C>T c.(871-873)ttC>ttT p.F291F BDKRB2_uc010avl.2_3'UTR|BDKRB2_uc010twu.1_Silent_p.F264F|BDKRB2_uc001yfg.2_Silent_p.F291F NM_000623 NP_000614 P30411 BKRB2_HUMAN Homo sapiens bradykinin receptor B2 (BDKRB2), mRNA. 291 arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway endosome|integral to plasma membrane bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1) 24 all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.226) TCAGCACCTTCCTGGATACGC 0.562000 27 10 0 0 0.000442599 0 0 PCDHB9 56127 broad.mit.edu 37 5 140568444 140568444 + Missense_Mutation SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr5:140568444C>T uc003liw.1 + 1 1550 c.1550C>T c.(1549-1551)tCg>tTg p.S517L NM_019119 NP_061992 Q9Y5E1 PCDB9_HUMAN Homo sapiens protocadherin beta 9 (PCDHB9), mRNA. 518 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCCCTCAGGTCGCTGGACTAC 0.682000 61 18 0 0 0.000175454 0 0 PRRC2B 84726 broad.mit.edu 37 9 134350745 134350745 + Missense_Mutation SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr9:134350745C>T uc004can.4 + 14 3284 c.3229C>T c.(3229-3231)Cgt>Tgt p.R1077C PRRC2B_uc010mzj.1_Missense_Mutation_p.R660C|PRRC2B_uc004cao.4_Missense_Mutation_p.R435C NM_013318 NP_037450 Q5JSZ5 PRC2B_HUMAN Homo sapiens proline-rich coiled-coil 2B (PRRC2B), mRNA. 1077 protein binding cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2) 44 GTTCACTTTTCGTGGTCGGCC 0.627000 12 15 0 0 0.000308642 0 0 PRAMEF1 65121 broad.mit.edu 37 1 12854230 12854230 + Missense_Mutation SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr1:12854230G>A uc001auj.2 + 2 557 c.454G>A c.(454-456)Gac>Aac p.D152N NM_023013 NP_075389 O95521 PRAM1_HUMAN Homo sapiens PRAME family member 1 (PRAMEF1), mRNA. 152 cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GGTGTTCATAGACATCTGCCT 0.522000 168 87 0 0 0.000781405 0 0 NAV3 89795 broad.mit.edu 37 12 78443775 78443775 + Missense_Mutation SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr12:78443775G>A uc001syp.3 + 9 2199 c.2026G>A c.(2026-2028)Gaa>Aaa p.E676K NAV3_uc001syo.3_Missense_Mutation_p.E676K|NAV3_uc010sub.2_Missense_Mutation_p.E176K NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN Homo sapiens neuron navigator 3 (NAV3), mRNA. 676 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 TTTCCTAGGTGAAGACCCTGA 0.338000 HNSCC(70;0.22) 22 9 0 0 0.000673444 0 0 TFR2 7036 broad.mit.edu 37 7 100218570 100218570 + Silent SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr7:100218570G>A uc003uvv.1 - 17 2385 c.2316C>T c.(2314-2316)ttC>ttT p.F772F TFR2_uc010lhc.1_Silent_p.F313F|TFR2_uc003uvu.1_Silent_p.F601F NM_003227 NP_003218 Q9UP52 TFR2_HUMAN Homo sapiens transferrin receptor 2 (TFR2), transcript variant 1, mRNA. 772 cellular iron ion homeostasis|iron ion transport|proteolysis cytoplasm|integral to plasma membrane peptidase activity|transferrin receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) GCTGACGCCGGAAACGGCTCT 0.662000 12 16 0 0 0.000422831 0 0 CSMD2 114784 broad.mit.edu 37 1 34174812 34174812 + Silent SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr1:34174812G>A uc001bxm.1 - 21 3630 c.3453C>T c.(3451-3453)tcC>tcT p.S1151S CSMD2_uc001bxn.1_Silent_p.S1111S|CSMD2_uc001bxo.1_Silent_p.S24S NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 1111 CUB 7. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GAAAGTTGGGGGACAGCAAAG 0.478000 29 11 0 0 0.000978159 0 0 TEX2 55852 broad.mit.edu 37 17 62226432 62226432 + Missense_Mutation SNP T G G TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr17:62226432T>G uc002jed.3 - 11 3453 c.3302A>C c.(3301-3303)aAc>aCc p.N1101T TEX2_uc002jec.3_Missense_Mutation_p.N1094T|TEX2_uc002jee.3_Missense_Mutation_p.N1094T NM_018469 NP_060939 Q8IWB9 TEX2_HUMAN Homo sapiens testis expressed 2 (TEX2), mRNA. 1094 signal transduction|sphingolipid metabolic process integral to membrane breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(8;1.33e-10) READ - Rectum adenocarcinoma(1115;0.0689) ATCATCCATGTTTGGCATGAC 0.453000 18 20 0 0 0.000295444 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + Missense_Mutation SNP A G G rs2257765 TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr10:38654432A>G uc010qex.1 + 4 599 c.524A>G c.(523-525)aAt>aGt p.N175S HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA. TCATCTCGCAATGCAAGGAAA 0.453000 48 4 0 0 0.00024832 0 0 ZFHX4 79776 broad.mit.edu 37 8 77618595 77618595 + Missense_Mutation SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr8:77618595C>T uc003yau.2 + 1 2659 c.2272C>T c.(2272-2274)Ccg>Tcg p.P758S ZFHX4_uc003yat.1_Missense_Mutation_p.P758S|ZFHX4_uc003yaw.1_Missense_Mutation_p.P758S NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA. 758 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P758P(1) NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) AACACCCTCTCCGTCCAAACC 0.522000 HNSCC(33;0.089) 15 7 0 0 8.12818e-05 0 0 SDCBP 6386 broad.mit.edu 37 8 59492257 59492257 + Missense_Mutation SNP A G G TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr8:59492257A>G uc003xtn.3 + 6 804 c.654A>G c.(652-654)atA>atG p.I218M SDCBP_uc003xto.3_Missense_Mutation_p.I217M|SDCBP_uc003xtr.3_Missense_Mutation_p.I217M|SDCBP_uc003xtq.3_Missense_Mutation_p.I218M|SDCBP_uc003xtp.3_Missense_Mutation_p.I212M|SDCBP_uc003xts.3_Missense_Mutation_p.I224M|SDCBP_uc011led.2_Missense_Mutation_p.I159M NM_005625 NP_005616 O00560 SDCB1_HUMAN Homo sapiens syndecan binding protein (syntenin) (SDCBP), transcript variant 1, mRNA. 218 PDZ 2. actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein N-terminus binding|protein heterodimerization activity|syndecan binding breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1) 8 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) ATGGAAAAATAACATCCATAG 0.368000 54 27 0 0 0.000586117 0 0 UBR4 23352 broad.mit.edu 37 1 19433196 19433196 + Missense_Mutation SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr1:19433196G>A uc001bbi.3 - 82 12264 c.12260C>T c.(12259-12261)cCc>cTc p.P4087L UBR4_uc001bbg.3_5'Flank|UBR4_uc001bbh.3_5'Flank NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA. 4087 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) TGATTTGCTGGGGGCTTTCCC 0.547000 74 41 0 0 0.000374591 0 0 MTIF2 4528 broad.mit.edu 37 2 55481309 55481309 + Missense_Mutation SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr2:55481309G>A uc002ryn.3 - 7 1269 c.532C>T c.(532-534)Cca>Tca p.P178S MTIF2_uc010yox.2_Intron|MTIF2_uc002ryo.3_Missense_Mutation_p.P178S NM_001005369 NP_002444 P46199 IF2M_HUMAN Homo sapiens mitochondrial translational initiation factor 2 (MTIF2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 178 regulation of translational initiation mitochondrion GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 24 GGGGACCTTGGGGTTAATAAA 0.403000 43 9 0 0 0.00010058 0 0 SNCAIP 9627 broad.mit.edu 37 5 121776381 121776381 + Missense_Mutation SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr5:121776381G>A uc003ksw.1 + 6 1560 c.1354G>A c.(1354-1356)Gaa>Aaa p.E452K SNCAIP_uc011cwl.1_Missense_Mutation_p.E10K|SNCAIP_uc010jct.3_Missense_Mutation_p.E452K|SNCAIP_uc003ksy.1_Missense_Mutation_p.E86K|SNCAIP_uc003ksx.1_Missense_Mutation_p.E499K|SNCAIP_uc003ksz.1_Missense_Mutation_p.E86K|SNCAIP_uc010jcu.2_Missense_Mutation_p.E48K|SNCAIP_uc011cwm.1_Missense_Mutation_p.E86K|SNCAIP_uc003kta.1_Missense_Mutation_p.E84K|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.E146K|SNCAIP_uc010jcx.1_Missense_Mutation_p.E392K|BC029465_uc003ktb.1_Intron NM_005460 NP_005451 Q9Y6H5 SNCAP_HUMAN Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA. 452 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) CTCGTTGGATGAAGTAGACCA 0.448000 87 42 0 0 0.000781405 0 0 DAZAP1 26528 broad.mit.edu 37 19 1434818 1434818 + Silent SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr19:1434818C>T uc002lsn.3 + 11 1320 c.1131C>T c.(1129-1131)tcC>tcT p.S377S DAZAP1_uc002lsm.3_3'UTR NM_018959 NP_061832 Q96EP5 DAZP1_HUMAN Homo sapiens DAZ associated protein 1 (DAZAP1), transcript variant 2, mRNA. 377 Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|nucleus RNA binding|nucleotide binding breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGGGTCCCTCCGTGCCAGGGT 0.692000 12 7 0 0 8.12818e-05 0 0 TMEM177 80775 broad.mit.edu 37 2 120438625 120438625 + Nonsense_Mutation SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr2:120438625C>T uc021vnk.1 + 0 196 c.196C>T c.(196-198)Caa>Taa p.Q66* TMEM177_uc002tme.2_Intron|TMEM177_uc010flg.1_Nonsense_Mutation_p.Q66*|TMEM177_uc002tmc.1_Nonsense_Mutation_p.Q66*|TMEM177_uc002tmd.2_Nonsense_Mutation_p.Q66*|TMEM177_uc010flh.3_Nonsense_Mutation_p.Q66* NM_030577 NP_085054 Q53S58 TM177_HUMAN Homo sapiens transmembrane protein 177 (TMEM177), transcript variant 2, mRNA. 66 integral to membrane breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 13 Colorectal(110;0.196) GAGCCTCTTCCAAGAGGTGCT 0.592000 88 49 0 0 0.000781405 0 0 NEB 4703 broad.mit.edu 37 2 152466398 152466398 + Silent SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr2:152466398G>A uc021vrb.1 - 75 11555 c.11526C>T c.(11524-11526)taC>taT p.Y3842Y NEB_uc002txu.3_Silent_p.Y4085Y|NEB_uc021vrc.1_Silent_p.Y4085Y|NEB_uc010fnx.3_Silent_p.Y3830Y|NEB_uc021vrd.1_Silent_p.Y3842Y NM_004543 NP_004534 P20929 NEBU_HUMAN Homo sapiens nebulin (NEB), transcript variant 3, mRNA. 3842 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development Z disc|actin cytoskeleton|cytosol actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) ATTCATGCAGGTAATTGCGAT 0.423000 115 10 0 0 0.000442599 0 0 OR10R2 343406 broad.mit.edu 37 1 158450564 158450564 + Silent SNP G A A rs146808200 TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr1:158450564G>A uc010pik.2 + 0 897 c.897G>A c.(895-897)acG>acA p.T299T AK057554_uc001fso.1_Non-coding_Transcript NM_001004472 NP_001004472 Q8NGX6 O10R2_HUMAN Homo sapiens olfactory receptor, family 10, subfamily R, member 2 (OR10R2), mRNA. 299 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 41 all_hematologic(112;0.0378) TGACATACACGATTGTCACTC 0.433000 25 24 0 0 0.000720815 0 0 LYST 1130 broad.mit.edu 37 1 235922514 235922514 + Silent SNP T G G TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr1:235922514T>G uc001hxj.2 - 22 6814 c.6639A>C c.(6637-6639)tcA>tcC p.S2213S LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript NM_000081 NP_000072 Q99698 LYST_HUMAN Homo sapiens lysosomal trafficking regulator (LYST), mRNA. 2213 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 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) TGTCATCTTCTGACCTGGGTT 0.542000 78 27 0 0 0.00058488 0 0 NBPF10 100132406 broad.mit.edu 37 1 145296403 145296403 + Silent SNP C T T rs4996269 by1000genomes TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr1:145296403C>T uc021oul.1 + 2 360 c.325C>T c.(325-327)Cta>Tta p.L109L NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021ouk.1_Silent_p.L109L|NBPF10_uc001emq.1_Intron NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA. 109 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) GCTGACCCAGCTAAGGGAGAA 0.517000 270 9 0 0 0.000442599 0 0 ILDR2 387597 broad.mit.edu 37 1 166891849 166891849 + Nonsense_Mutation SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr1:166891849G>A uc001gdx.2 - 7 1248 c.1192C>T c.(1192-1194)Cga>Tga p.R398* NM_199351 NP_955383 Q71H61 ILDR2_HUMAN Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA. 398 integral to membrane NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 22 AAGCTCTCTCGATCCTCTTTG 0.597000 152 55 0 0 0.000781405 0 0 TRPS1 7227 broad.mit.edu 37 8 116426948 116426948 + Missense_Mutation SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr8:116426948C>T uc003yny.3 - 6 3766 c.3188G>A c.(3187-3189)gGa>gAa p.G1063E TRPS1_uc011lhy.2_Missense_Mutation_p.G1054E|TRPS1_uc003ynz.3_Missense_Mutation_p.G1050E|TRPS1_uc010mcy.3_Missense_Mutation_p.G1050E NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA. 1050 Mediates interaction with RNF4 (By similarity). NLS-bearing substrate import into nucleus|negative regulation of transcription from RNA polymerase II promoter|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) TGAACTATTTCCTGGATCTCC 0.443000 Langer-Giedion syndrome 120 14 0 0 0.000566183 0 0 NLRP12 91662 broad.mit.edu 37 19 54318189 54318189 + Missense_Mutation SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr19:54318189C>T uc002qcj.4 - 1 563 c.343G>A c.(343-345)Gaa>Aaa p.E115K NLRP12_uc002qch.4_Missense_Mutation_p.E115K|NLRP12_uc002qci.4_Missense_Mutation_p.E115K|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.E115K NM_144687 NP_653288 P59046 NAL12_HUMAN Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA. 115 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) AGAGAGACTTCCAGAAGGCAT 0.517000 68 48 0 0 0.000781405 0 0 LRP2 4036 broad.mit.edu 37 2 170034386 170034386 + Silent SNP A G G TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr2:170034386A>G uc002ues.3 - 52 10533 c.10320T>C c.(10318-10320)aaT>aaC p.N3440N NM_004525 NP_004516 P98164 LRP2_HUMAN Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA. 3440 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome SH3 domain binding|calcium ion binding|receptor activity biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) GTGTCTGTCTATTTGATCCAT 0.423000 204 19 0 0 0.000295444 0 0 LILRA5 353514 broad.mit.edu 37 19 54818745 54818745 + Nonsense_Mutation SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr19:54818745G>A uc002qfe.3 - 6 973 c.853C>T c.(853-855)Cag>Tag p.Q285* LILRA5_uc002qff.3_Nonsense_Mutation_p.Q273* NM_021250 NP_067073 A6NI73 LIRA5_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 (LILRA5), transcript variant 1, mRNA. 285 innate immune response extracellular region|integral to membrane receptor activity breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 20 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TGCCAATCCTGAAATATCAGA 0.532000 51 30 0 0 0.000279167 0 0 TBC1D17 79735 broad.mit.edu 37 19 50385510 50385511 + Missense_Mutation DNP GG AA AA TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr19:50385510_50385511GG>AA uc002pqo.3 + 6 950_951 c.651_652GG>AA c.(649-654)caggat>caAAat p.D218N TBC1D17_uc010enn.2_Non-coding_Transcript|TBC1D17_uc010ybg.2_Missense_Mutation_p.D185N|TBC1D17_uc002pqp.3_5'UTR|TBC1D17_uc002pqr.3_5'UTR NM_024682 NP_078958 Q9HA65 TBC17_HUMAN Homo sapiens TBC1 domain family, member 17 (TBC1D17), transcript variant 1, mRNA. 218 intracellular Rab GTPase activator activity NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 15 all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017) GCTTCCTCCAGGATCCCTACTC 0.683000 56 8 0 0 6.4e-05 0 0 C3orf71 646450 broad.mit.edu 37 3 48956243 48956243 + Missense_Mutation SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr3:48956243C>T uc010hkk.1 - 0 576 c.340G>A c.(340-342)Gat>Aat p.D114N ARIH2_uc003cvb.3_5'Flank|ARIH2_uc003cvc.3_5'Flank NM_001123040 NP_001116512 Q8N7S6 CC071_HUMAN Homo sapiens chromosome 3 open reading frame 71 (C3orf71), mRNA. 114 integral to membrane breast(1)|endometrium(2)|lung(1)|urinary_tract(1) 5 CGACCCCGATCCGGAAGTGAC 0.682000 15 9 0 0 0.000442599 0 0 CSF2RA 1438 broad.mit.edu 37 X 1401656 1401656 + Silent SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chrX:1401656G>A uc010nct.2 + 3 382 c.60G>A c.(58-60)ctG>ctA p.L20L CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Silent_p.L20L|CSF2RA_uc004cpq.2_Silent_p.L20L|CSF2RA_uc004cpn.2_Silent_p.L20L|CSF2RA_uc004cpo.2_Silent_p.L20L|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_5'UTR|CSF2RA_uc004cpp.2_Silent_p.L20L|CSF2RA_uc010ncv.2_Silent_p.L20L|CSF2RA_uc004cpr.2_Silent_p.L20L NM_001161529 NP_001155004 P15509 CSF2R_HUMAN Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA. 20 extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 45 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) CATTCCTCCTGATCCCAGAGA 0.537000 173 92 0 0 0.000781405 0 0 SLC8A3 6547 broad.mit.edu 37 14 70633654 70633654 + Missense_Mutation SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr14:70633654C>T uc001xly.3 - 1 2240 c.1486G>A c.(1486-1488)Gag>Aag p.E496K SLC8A3_uc001xlw.3_Missense_Mutation_p.E496K|SLC8A3_uc001xlx.3_Missense_Mutation_p.E496K|SLC8A3_uc001xlz.3_Missense_Mutation_p.E496K|SLC8A3_uc010ara.3_Non-coding_Transcript NM_183002 NP_892114 P57103 NAC3_HUMAN Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA. 496 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) GGCATCCCCTCCTCTGGCTGC 0.517000 55 23 0 0 0.000295444 0 0 BOD1L2 284257 broad.mit.edu 37 18 54814964 54814964 + Missense_Mutation SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr18:54814964C>T uc002lgm.3 + 0 672 c.421C>T c.(421-423)Cat>Tat p.H141Y Homo sapiens biorientation of chromosomes in cell division 1 pseudogene (BOD1P), non-coding RNA. ACAAATAATTCATGAATTCCT 0.512000 8 7 0 0 8.12818e-05 0 0 OR2F1 26211 broad.mit.edu 37 7 143657556 143657556 + Nonsense_Mutation SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr7:143657556C>T uc003wds.1 + 0 537 c.493C>T c.(493-495)Cag>Tag p.Q165* NM_012369 NP_036501 Q13607 OR2F1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA. 165 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4) 34 Melanoma(164;0.0903) TATCACCTTTCAGCTGCCCAT 0.522000 82 7 0 0 8.12818e-05 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367820 145367820 + Silent SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr1:145367820C>T uc021oul.1 + 82 10451 c.10416C>T c.(10414-10416)ccC>ccT p.P3472P NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA. 3472 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) CACCATGCCCCAGGTGACTTT 0.438000 56 11 0 0 0.000978159 0 0 SCN9A 6335 broad.mit.edu 37 2 167138295 167138295 + Silent SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr2:167138295C>T uc010fpl.3 - 12 2306 c.1965G>A c.(1963-1965)aaG>aaA p.K655K BC051759_uc002udp.3_Intron|SCN9A_uc002udr.1_Silent_p.K537K|SCN9A_uc002uds.1_Silent_p.K537K|SCN9A_uc002udt.1_Silent_p.K526K NM_002977 NP_002968 Q15858 SCN9A_HUMAN Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA. 666 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) AACGCCTTTTCTTGTGTATTT 0.343000 86 5 0 0 3.59834e-05 0 0 POM121 9883 broad.mit.edu 37 7 72409898 72409898 + Missense_Mutation SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr7:72409898C>T uc003twk.2 + 6 1391 c.1391C>T c.(1390-1392)tCc>tTc p.S464F POM121_uc003twj.3_Missense_Mutation_p.S199F|POM121_uc010lam.1_Missense_Mutation_p.S199F NM_172020 NP_742017 Q96HA1 P121A_HUMAN Homo sapiens POM121 membrane glycoprotein (POM121), mRNA. 464 Pore side (Potential). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) TGTCATCATTCCAGTTCTTCA 0.478000 77 5 0 0 8.12818e-05 0 0 STAB2 55576 broad.mit.edu 37 12 104054484 104054484 + Silent SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr12:104054484C>T uc001tjw.3 + 16 1998 c.1812C>T c.(1810-1812)tcC>tcT p.S604S NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN Homo sapiens stabilin 2 (STAB2), mRNA. 604 FAS1 2. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 CTCTCATCTCCACCCCTCACA 0.488000 60 33 0 0 0.000814825 0 0 DNAJC12 56521 broad.mit.edu 37 10 69565428 69565428 + Nonsense_Mutation SNP C A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr10:69565428C>A uc001jnb.3 - 3 583 c.415G>T c.(415-417)Gag>Tag p.E139* U6_uc021prq.1_5'Flank NM_021800 NP_068572 Q9UKB3 DJC12_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 12 (DNAJC12), transcript variant 1, mRNA. 139 protein folding heat shock protein binding|unfolded protein binding breast(2)|kidney(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1) 12 GAAGCCAGCTCCTCTTTCTTT 0.443000 112 84 1.68136e-41 2.10799e-40 0.000781405 1 0 MYO18B 84700 broad.mit.edu 37 22 26423026 26423026 + Silent SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr22:26423026G>A uc003abz.1 + 42 7336 c.7086G>A c.(7084-7086)ggG>ggA p.G2362G MYO18B_uc003aca.1_Silent_p.G2243G|MYO18B_uc010guy.1_Silent_p.G2244G|MYO18B_uc010guz.1_Silent_p.G2242G|MYO18B_uc011aka.1_Silent_p.G1516G|MYO18B_uc011akb.1_Silent_p.G1875G|MYO18B_uc010gva.1_Silent_p.G345G|MYO18B_uc010gvb.1_Non-coding_Transcript NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN Homo sapiens myosin XVIIIB (MYO18B), mRNA. 2362 nucleus|sarcomere|unconventional myosin complex ATP binding|actin binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 CGAGCATGGGGAGAAAACTGA 0.582000 65 24 0 0 0.000184323 0 0 CHAMP1 283489 broad.mit.edu 37 13 115089945 115089945 + Missense_Mutation SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr13:115089945C>T uc001vuv.3 + 2 960 c.628C>T c.(628-630)Cct>Tct p.P210S CHAMP1_uc010tko.2_Missense_Mutation_p.P210S|CHAMP1_uc010ahb.3_Missense_Mutation_p.P210S|CHAMP1_uc021rmx.1_Missense_Mutation_p.P210S NM_032436 NP_115812 Q96JM3 ZN828_HUMAN Homo sapiens chromosome alignment maintaining phosphoprotein 1 (CHAMP1), transcript variant 1, mRNA. 210 Pro-rich. attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation condensed chromosome kinetochore|cytoplasm|nucleus|spindle nucleic acid binding|protein binding|zinc ion binding ACCACAGAAACCTGCCCCTGT 0.493000 176 47 0 0 0.000781405 0 0 OR10A5 144124 broad.mit.edu 37 11 6867792 6867792 + Silent SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr11:6867792G>A uc001met.1 + 0 879 c.879G>A c.(877-879)ttG>ttA p.L293L NM_178168 NP_835462 Q9H207 O10A5_HUMAN Homo sapiens olfactory receptor, family 10, subfamily A, member 5 (OR10A5), mRNA. 293 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2) 21 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TCTACAGCTTGAGAAATAGCG 0.433000 49 22 0 0 0.000229342 0 0 KIAA1210 57481 broad.mit.edu 37 X 118284450 118284450 + Silent SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chrX:118284450C>T uc004era.4 - 0 93 c.93G>A c.(91-93)agG>agA p.R31R NM_020721 NP_065772 Q9ULL0 K1210_HUMAN Homo sapiens KIAA1210 (KIAA1210), mRNA. 31 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 CCCCTCGGTCCCTGGGGCCCA 0.617000 23 6 0 0 0.000157383 0 0 GOLGA3 2802 broad.mit.edu 37 12 133384717 133384717 + Missense_Mutation SNP T C C TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr12:133384717T>C uc001ukz.1 - 4 1497 c.938A>G c.(937-939)aAt>aGt p.N313S GOLGA3_uc021rgt.1_Non-coding_Transcript|GOLGA3_uc001ula.1_Missense_Mutation_p.N313S|GOLGA3_uc001ulb.3_Missense_Mutation_p.N313S NM_005895 NP_005886 Q08378 GOGA3_HUMAN Homo sapiens golgin A3 (GOLGA3), transcript variant 1, mRNA. 313 intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) GTCGCTGTCATTTCCATCCAC 0.602000 45 20 0 0 0.000132079 0 0 PSG3 5671 broad.mit.edu 37 19 43243130 43243130 + Missense_Mutation SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr19:43243130G>A uc002oue.3 - 1 308 c.176C>T c.(175-177)cCc>cTc p.P59L PSG3_uc002ouf.3_Non-coding_Transcript|PSG3_uc002oug.1_Intron NM_021016 NP_066296 Q16557 PSG3_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 3 (PSG3), mRNA. 59 Ig-like V-type. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 Prostate(69;0.00682) AAGATTCTGGGGCAAATTGTG 0.443000 154 65 0 0 0.000781405 0 0 ZNF827 152485 broad.mit.edu 37 4 146824143 146824144 + Missense_Mutation DNP CC TT TT TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr4:146824143_146824144CC>TT uc003ikn.3 - 1 315_316 c.267_268GG>AA c.(265-270)gaggtc>gaAAtc p.V90I ZNF827_uc003ikm.3_Missense_Mutation_p.V90I|ZNF827_uc010iox.3_Intron NM_178835 NP_849157 Q17R98 ZN827_HUMAN Homo sapiens zinc finger protein 827 (ZNF827), mRNA. 90 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all_hematologic(180;0.151) TCTCGCAGGACCTCACTGTCCA 0.594000 26 16 0 0 6.4e-05 0 0 ZMYM4 9202 broad.mit.edu 37 1 35853067 35853067 + Nonsense_Mutation SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr1:35853067C>T uc001byt.3 + 12 2205 c.2125C>T c.(2125-2127)Cag>Tag p.Q709* ZMYM4_uc009vuu.3_Nonsense_Mutation_p.Q677*|ZMYM4_uc001byu.3_Nonsense_Mutation_p.Q385*|ZMYM4_uc009vuv.3_Nonsense_Mutation_p.Q448* NM_005095 NP_005086 Q5VZL5 ZMYM4_HUMAN Homo sapiens zinc finger, MYM-type 4 (ZMYM4), mRNA. 709 multicellular organismal development DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2) 54 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CAAAATGTTTCAGTTCTGTGG 0.294000 36 14 0 0 0.000308642 0 0 NUDT15 55270 broad.mit.edu 37 13 48611944 48611945 + Missense_Mutation DNP CC TT TT TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr13:48611944_48611945CC>TT uc001vbw.1 + 0 242_243 c.62_63CC>TT c.(61-63)acc>aTT p.T21I SUCLA2_uc010tgd.2_5'UTR|NUDT15_uc001vbv.3_Missense_Mutation_p.T21I NM_018283 NP_060753 Q9NV35 NUD15_HUMAN Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 15 (NUDT15), mRNA. 21 Nudix hydrolase. hydrolase activity|metal ion binding endometrium(1)|kidney(3)|large_intestine(2)|lung(1) 7 all_cancers(8;3.75e-25)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|all_hematologic(8;0.000219)|Lung NSC(96;0.000226)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236) GBM - Glioblastoma multiforme(144;4.83e-07) GTCGTGGTGACCAGCTGCAAGC 0.673000 OREG0022405 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 10 0 0 6.4e-05 0 0 ADAM33 80332 broad.mit.edu 37 20 3655477 3655477 + Missense_Mutation SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr20:3655477C>T uc002wit.3 - 4 440 c.353G>A c.(352-354)gGg>gAg p.G118E ADAM33_uc002wir.1_Missense_Mutation_p.G118E|ADAM33_uc002wis.3_5'Flank|ADAM33_uc002wiu.3_Missense_Mutation_p.G118E|ADAM33_uc002wiw.1_Non-coding_Transcript|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Intron|ADAM33_uc010zqg.1_Missense_Mutation_p.G130E|ADAM33_uc010zqh.1_Missense_Mutation_p.G118E NM_025220 NP_079496 Q9BZ11 ADA33_HUMAN Homo sapiens ADAM metallopeptidase domain 33 (ADAM33), transcript variant 1, mRNA. 118 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3) 29 CCTTACTCGCCCTTGGTAGTG 0.637000 31 5 0 0 0.000602214 0 0 HSD3B2 3284 broad.mit.edu 37 1 119985600 119985600 + Missense_Mutation SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr1:119985600C>T uc001ehu.3 + 3 579 c.407C>T c.(406-408)aCc>aTc p.T136I P26439 3BHS2_HUMAN Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (HSD3B2), transcript variant 1, mRNA. 0 androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1) 27 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836) NADH(DB00157)|Trilostane(DB01108) GTCATCCACACCGCCTGTATC 0.507000 16 8 0 0 0.000274275 0 0 IL17REL 400935 broad.mit.edu 37 22 50439249 50439249 + Silent SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr22:50439249G>A uc003bje.1 - 4 385 c.153C>T c.(151-153)acC>acT p.T51T NM_001001694 NP_001001694 Q6ZVW7 I17EL_HUMAN Homo sapiens interleukin 17 receptor E-like (IL17REL), mRNA. 51 endometrium(1)|large_intestine(1)|lung(3)|pancreas(1) 6 all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236) BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247) GCGTCTCCTGGGTGTCCAGGC 0.721000 5 12 0 0 0.000151284 0 0 TMEM59L 25789 broad.mit.edu 37 19 18727834 18727834 + Missense_Mutation SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr19:18727834G>A uc010ebu.1 + 4 673 c.586G>A c.(586-588)Ggc>Agc p.G196S TMEM59L_uc002njy.4_Missense_Mutation_p.G196S NM_012109 NP_036241 Q9UK28 TM59L_HUMAN Homo sapiens transmembrane protein 59-like (TMEM59L), mRNA. 196 Golgi membrane|integral to membrane|membrane fraction breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2) 13 GGAGAGCCTCGGCTTCCAGGG 0.647000 99 18 0 0 0.000132079 0 0 PPARA 5465 broad.mit.edu 37 22 46628007 46628007 + Silent SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr22:46628007C>T uc003bhb.1 + 5 1153 c.1030C>T c.(1030-1032)Cta>Tta p.L344L PPARA_uc003bgw.1_Silent_p.L344L|PPARA_uc003bgx.1_Silent_p.L344L|PPARA_uc010hab.1_Silent_p.L344L|PPARA_uc010hac.1_Silent_p.L141L NM_005036 NP_005027 Q07869 PPARA_HUMAN Homo sapiens peroxisome proliferator-activated receptor alpha (PPARA), transcript variant 5, mRNA. 344 Ligand-binding.|Required for heterodimerization with RXRA. fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 15 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00522) Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641) TCGTGAATTCCTAAAAAGCCT 0.428000 74 31 0 0 0.000279167 0 0 SHANK2 22941 broad.mit.edu 37 11 70336421 70336421 + Silent SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr11:70336421C>T uc001oqc.3 - 18 2425 c.2313G>A c.(2311-2313)ctG>ctA p.L771L SHANK2_uc010rqn.2_Silent_p.L247L|SHANK2_uc001opz.3_Silent_p.L242L|BC127192_uc009ysn.1_Intron|SHANK2_uc010rqp.1_Silent_p.L239L|SHANK2_uc001opy.3_5'UTR|SHANK2_uc010rqo.1_Silent_p.L50L NM_012309 NP_036441 Q9UPX8 SHAN2_HUMAN Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA. 458 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) GAGGGATGCCCAGAAACGGGG 0.562000 50 26 0 0 0.000878237 0 0 CACNA1A 773 broad.mit.edu 37 19 13397387 13397387 + Silent SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr19:13397387C>T uc002mwy.3 - 19 3719 c.3483G>A c.(3481-3483)agG>agA p.R1161R CACNA1A_uc010dzc.2_Silent_p.R687R|CACNA1A_uc010xnd.2_Silent_p.R1164R|CACNA1A_uc021ups.1_Silent_p.R1161R|CACNA1A_uc010xne.2_Silent_p.R1164R|CACNA1A_uc010dze.2_Silent_p.R1161R|CACNA1A_uc021upt.1_Silent_p.R1162R NM_001127222 NP_001120694 O00555 CAC1A_HUMAN Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA. 1162 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) GGTCGGGTTTCCTGGCAGTCT 0.627000 20 16 0 0 0.000566183 0 0 USP31 57478 broad.mit.edu 37 16 23085100 23085100 + Missense_Mutation SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr16:23085100G>A uc002dll.3 - 13 2278 c.2278C>T c.(2278-2280)Ctc>Ttc p.L760F USP31_uc002dlk.3_5'Flank|USP31_uc010vca.2_Missense_Mutation_p.L63F|USP31_uc010bxm.3_Missense_Mutation_p.L48F NM_020718 NP_065769 Q70CQ4 UBP31_HUMAN Homo sapiens ubiquitin specific peptidase 31 (USP31), mRNA. 760 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 57 GBM - Glioblastoma multiforme(48;0.0187) TGGTAGAAGAGGATGTATGCT 0.542000 32 12 0 0 0.00010058 0 0 MAGEB1 4112 broad.mit.edu 37 X 30269600 30269600 + Silent SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chrX:30269600G>A uc022buh.1 + 0 990 c.990G>A c.(988-990)acG>acA p.T330T MAGEB1_uc004dcc.3_Silent_p.T330T|MAGEB1_uc004dcd.3_Silent_p.T330T|MAGEB1_uc004dce.3_Silent_p.T330T NM_177415 NP_803134 P43366 MAGB1_HUMAN Homo sapiens melanoma antigen family B, 1 (MAGEB1), transcript variant 3, mRNA. 330 p.A329V(1) NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 32 CTACTGCCACGACTTTTAGAG 0.527000 10 28 0 0 0.000184323 0 0 ZFP112 7771 broad.mit.edu 37 19 44892134 44892134 + Silent SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr19:44892134G>A uc010xxa.2 - 3 337 c.294C>T c.(292-294)atC>atT p.I98I ZFP112_uc010xwz.2_Intron|ZFP112_uc002ozd.4_Silent_p.I91I NM_152354 NP_689567 Q9UJU3 ZF112_HUMAN Homo sapiens zinc finger protein 285 (ZNF285), mRNA. 123 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(1)|lung(8)|ovary(3)|prostate(4)|skin(3) 41 GAAGGTTCACGATATAATCCT 0.418000 56 18 0 0 0.00074312 0 0 TCRBV15S1 0 broad.mit.edu 37 7 142364690 142364690 + Missense_Mutation SNP T C C TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr7:142364690T>C uc003vzx.3 + 1 359 c.325T>C c.(325-327)Ttc>Ctc p.F109L TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Non-coding_Transcript|TRBV23-1_uc022ans.1_Intron SubName: Full=V_segment translation product; Flags: Fragment; AGCTCTTTACTTCTGTGCCAC 0.507000 25 63 0 0 0.000781405 0 0 SUV420H2 84787 broad.mit.edu 37 19 55854219 55854219 + Splice_Site SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr19:55854219G>A uc002qkj.4 + 4 634 c.386_splice c.e4+1 p.W129_splice SUV420H2_uc010esx.1_Nonsense_Mutation_p.W129*|SUV420H2_uc002qkk.1_Nonsense_Mutation_p.W129*|SUV420H2_uc002qkl.3_Splice_Site_p.W14_splice NM_032701 NP_116090 Q86Y97 SV422_HUMAN Homo sapiens suppressor of variegation 4-20 homolog 2 (Drosophila) (SUV420H2), mRNA. 129 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2) 4 Breast(117;0.191) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) ACTCGTGCTTGGTAAGAGGGC 0.592000 20 9 0 0 0.000442599 0 0 PITRM1 10531 broad.mit.edu 37 10 3191935 3191935 + Silent SNP G T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr10:3191935G>T uc009xhv.2 - 15 1818 c.1749C>A c.(1747-1749)atC>atA p.I583I PITRM1_uc001igr.2_Silent_p.I583I|PITRM1_uc001igt.2_Silent_p.I583I|PITRM1_uc010qah.2_Silent_p.I551I|PITRM1_uc001igu.1_Silent_p.I575I|PITRM1_uc010qai.2_Silent_p.I554I NM_001242307 NP_001229236 E7ES23 E7ES23_HUMAN Homo sapiens pitrilysin metallopeptidase 1 (PITRM1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 551 proteolysis metalloendopeptidase activity|zinc ion binding breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3) 33 ACTGAACAGGGATATCTCCAG 0.438000 73 17 5.03518e-11 6.22553e-10 0.000958276 1 0 DNAH7 56171 broad.mit.edu 37 2 196642563 196642563 + Silent SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr2:196642563G>A uc002utj.4 - 58 11126 c.11025C>T c.(11023-11025)ttC>ttT p.F3675F DNAH7_uc002uti.4_Silent_p.F158F NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 3675 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 CACTTGAGTCGAACTTATAGT 0.418000 29 14 0 0 0.000308642 0 0 ABCC3 8714 broad.mit.edu 37 17 48750479 48750479 + Missense_Mutation SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr17:48750479G>A uc002isl.3 + 17 2469 c.2389G>A c.(2389-2391)Gaa>Aaa p.E797K NM_003786 NP_003777 O15438 MRP3_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA. 797 ABC transporter 1. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) CATCGGGCCAGAAGGCGTGCT 0.577000 37 17 0 0 0.000132079 0 0 GAS6 2621 broad.mit.edu 37 13 114531609 114531609 + Missense_Mutation SNP C G G TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr13:114531609C>G uc001vug.3 - 2 1374 c.322G>C c.(322-324)Ggg>Cgg p.G108R GAS6_uc001vud.3_Missense_Mutation_p.G407R|GAS6_uc001vuf.3_Missense_Mutation_p.G134R NM_001143946 NP_001137418 Q14393 GAS6_HUMAN Homo sapiens growth arrest-specific 6 (GAS6), transcript variant 3, mRNA. 450 cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth Golgi lumen|endoplasmic reticulum lumen|extracellular space|platelet alpha granule lumen calcium ion binding|receptor agonist activity central_nervous_system(4)|ovary(1) 5 Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188) AACAAGTCCCCGGCCACCGCG 0.552000 53 16 0 0 0.000422831 0 0 LRP1 4035 broad.mit.edu 37 12 57573125 57573125 + Silent SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr12:57573125C>T uc001snd.3 + 28 5218 c.4752C>T c.(4750-4752)ttC>ttT p.F1584F NM_002332 NP_002323 Q07954 LRP1_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA. 1584 aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TTAAGAAGTTCCTGCTGTACG 0.557000 19 5 0 0 3.59834e-05 0 0 GPR141 353345 broad.mit.edu 37 7 37780304 37780304 + Silent SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr7:37780304C>T uc003tfm.1 + 0 309 c.309C>T c.(307-309)ttC>ttT p.F103F BC043356_uc003tfl.3_Intron NM_181791 NP_861456 Q7Z602 GP141_HUMAN Homo sapiens G protein-coupled receptor 141 (GPR141), mRNA. 103 integral to membrane|plasma membrane G-protein coupled receptor activity p.T102T(1) NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 ACCTCACGTTCCTATTCTATG 0.468000 88 28 0 0 0.000720815 0 0 ZFP42 132625 broad.mit.edu 37 4 188924849 188924849 + Silent SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr4:188924849C>T uc003izh.1 + 3 1296 c.888C>T c.(886-888)atC>atT p.I296I ZFP42_uc003izi.1_Silent_p.I296I|ZFP42_uc021xvm.1_Silent_p.I296I NM_174900 NP_777560 Q96MM3 ZFP42_HUMAN Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA. 296 female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) AAGCCCACATCCTAACGCATG 0.468000 52 4 0 0 0.00024832 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140740075 140740075 + Missense_Mutation SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr5:140740075G>A uc003ljs.2 + 0 373 c.373G>A c.(373-375)Gat>Aat p.D125N PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc011dar.2_Missense_Mutation_p.D125N NM_018923 NP_061746 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA. 125 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AATTGTGCAGGATATAAATGA 0.403000 34 15 0 0 0.000308642 0 0 API5 8539 broad.mit.edu 37 11 43345121 43345122 + Missense_Mutation DNP CC TT TT TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr11:43345121_43345122CC>TT uc010rfh.1 + 5 858_859 c.685_686CC>TT c.(685-687)ccc>TTc p.P229F API5_uc001mxf.2_Missense_Mutation_p.P229F|API5_uc010rfg.1_Missense_Mutation_p.P218F|API5_uc010rfi.1_Missense_Mutation_p.P175F|API5_uc021qgi.1_Intron|API5_uc001mxg.3_Missense_Mutation_p.P103F NM_001142930 NP_001136402 Q9BZZ5 API5_HUMAN Homo sapiens apoptosis inhibitor 5 (API5), transcript variant 1, mRNA. 229 anti-apoptosis|apoptosis cytoplasm|spliceosomal complex fibroblast growth factor binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1) 20 GACCTTCAATCCCTCGGATCCT 0.490000 105 47 0 0 6.4e-05 0 0 HSF5 124535 broad.mit.edu 37 17 56540534 56540534 + Missense_Mutation SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr17:56540534G>A uc002iwi.1 - 3 1275 c.1151C>T c.(1150-1152)tCc>tTc p.S384F NM_001080439 NP_001073908 Q4G112 HSF5_HUMAN Homo sapiens heat shock transcription factor family member 5 (HSF5), mRNA. 384 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.H383R(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1) 16 Medulloblastoma(34;0.127)|all_neural(34;0.237) TTTAGGGGAGGAATGCAACTC 0.423000 58 42 0 0 0.000781405 0 0 MUC16 94025 broad.mit.edu 37 19 9087881 9087881 + Missense_Mutation SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr19:9087881C>T uc002mkp.3 - 0 4138 c.3934G>A c.(3934-3936)Gag>Aag p.E1312K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 1312 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 GTGTTAGTCTCTCCAGGAGCT 0.512000 41 11 0 0 0.000978159 0 0 CYP7A1 1581 broad.mit.edu 37 8 59409663 59409663 + Missense_Mutation SNP A C C TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr8:59409663A>C uc003xtm.4 - 2 471 c.408T>G c.(406-408)caT>caG p.H136Q NM_000780 NP_000771 P22680 CP7A1_HUMAN Homo sapiens cytochrome P450, family 7, subfamily A, polypeptide 1 (CYP7A1), mRNA. 136 bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1) 34 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) AATTCAAGGCATGGCCCTGCA 0.473000 Neonatal Giant Cell Hepatitis 66 34 0 0 0.00058488 0 0 CHST4 10164 broad.mit.edu 37 16 71570920 71570920 + Missense_Mutation SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr16:71570920G>A uc021tkt.1 + 0 340 c.340G>A c.(340-342)Gaa>Aaa p.E114K CHST4_uc002fan.3_Missense_Mutation_p.E114K|CHST4_uc002fao.3_Missense_Mutation_p.E114K NM_005769 NP_005760 Q8NCG5 CHST4_HUMAN Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 (CHST4), transcript variant 1, mRNA. 114 N-acetylglucosamine metabolic process|cell-cell signaling|immune response|inflammatory response|protein sulfation integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 21 TGCCTACATGGAACCTGGTCC 0.567000 33 22 0 0 0.000878237 0 0 SEMA3A 10371 broad.mit.edu 37 7 83634740 83634740 + Silent SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr7:83634740C>T uc003uhz.3 - 10 1590 c.1275G>A c.(1273-1275)acG>acA p.T425T NM_006080 NP_006071 Q14563 SEM3A_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A (SEMA3A), mRNA. 425 Sema. axon guidance extracellular region|membrane receptor activity breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 AATTTACATCCGTTTTGATCA 0.368000 59 25 0 0 0.00106085 0 0 C8orf86 389649 broad.mit.edu 37 8 38370031 38370031 + Silent SNP G A A rs138372010 TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr8:38370031G>A uc003xlx.1 - 2 571 c.546C>T c.(544-546)tcC>tcT p.S182S NM_207412 NP_997295 Q6ZUL3 CH086_HUMAN Homo sapiens chromosome 8 open reading frame 86 (C8orf86), mRNA. 182 breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1) 5 tcagttccccggagattctga 0.537000 57 24 0 0 0.000878237 0 0 RBMXL2 27288 broad.mit.edu 37 11 7111240 7111240 + Missense_Mutation SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr11:7111240G>A uc001mfc.2 + 0 1076 c.889G>A c.(889-891)Ggg>Agg p.G297R NM_014469 NP_055284 O75526 HNRGT_HUMAN Homo sapiens RNA binding motif protein, X-linked-like 2 (RBMXL2), mRNA. 297 Arg/Gly/Pro-rich. nucleus|ribonucleoprotein complex RNA binding|nucleotide binding p.G297V(1) NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) CCCAGGACGGGGGACACCGCC 0.662000 22 6 0 0 8.12818e-05 0 0 PDE6C 5146 broad.mit.edu 37 10 95385332 95385332 + Splice_Site SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr10:95385332G>A uc001kiu.4 + 5 1003 c.865_splice c.e5-1 p.E289_splice NM_006204 NP_006195 P51160 PDE6C_HUMAN Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA. 289 GAF 2. visual perception plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.123) TTGCCTCCAGGAATTCTACGA 0.378000 35 4 0 0 0.000602214 0 0 GPR179 440435 broad.mit.edu 37 17 36482717 36482717 + Silent SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr17:36482717C>T uc002hpz.3 - 10 6756 c.6735G>A c.(6733-6735)gaG>gaA p.E2245E NM_001004334 NP_001004334 Q6PRD1 GP179_HUMAN Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA. 2245 integral to membrane|plasma membrane G-protein coupled receptor activity p.E2245G(1) breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) CTCCAGTTTCCTCCCCAGGAC 0.493000 58 21 0 0 0.00047179 0 0 SMAD7 4092 broad.mit.edu 37 18 46468900 46468900 + Silent SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr18:46468900G>A uc002ldg.3 - 2 980 c.693C>T c.(691-693)tcC>tcT p.S231S SMAD7_uc002ldf.3_Silent_p.S43S|SMAD7_uc010xde.2_Silent_p.S16S|SMAD7_uc021ujr.1_Silent_p.S230S NM_005904 NP_005895 O15105 SMAD7_HUMAN Homo sapiens SMAD family member 7 (SMAD7), transcript variant 1, mRNA. 231 BMP signaling pathway|adherens junction assembly|artery morphogenesis|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex I-SMAD binding|activin binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1) 10 Colorectal(1;0.0518) TTTCAGCGGAGGAAGGCACAG 0.438000 43 34 0 0 0.000491102 0 0 SPTB 6710 broad.mit.edu 37 14 65220430 65220430 + Missense_Mutation SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr14:65220430C>T uc001xhr.3 - 31 6478 c.6427G>A c.(6427-6429)Ggg>Agg p.G2143R SPTB_uc001xhs.3_Missense_Mutation_p.G2143R|SPTB_uc010aqi.3_Missense_Mutation_p.G804R NM_001024858 NP_001020029 P11277 SPTB1_HUMAN Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 1, mRNA. 0 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) CTCTCATCCCCAGTGGATTTC 0.647000 45 23 0 0 0.000720815 0 0 IRX4 50805 broad.mit.edu 37 5 1879826 1879826 + Silent SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr5:1879826G>A uc003jcz.2 - 3 647 c.528C>T c.(526-528)atC>atT p.I176I IRX4_uc011cmf.1_Silent_p.I37I NM_016358 NP_057442 P78413 IRX4_HUMAN Homo sapiens iroquois homeobox 4 (IRX4), mRNA. 176 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) TGGCCAGCATGATCTTCTCGC 0.642000 49 19 0 0 0.000132079 0 0 ESCO2 157570 broad.mit.edu 37 8 27634168 27634168 + Missense_Mutation SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr8:27634168G>A uc003xgg.3 + 2 426 c.343G>A c.(343-345)Gaa>Aaa p.E115K ESCO2_uc010luy.1_Non-coding_Transcript|ESCO2_uc003xgh.3_Missense_Mutation_p.E115K NM_001017420 NP_001017420 Q56NI9 ESCO2_HUMAN Homo sapiens establishment of cohesion 1 homolog 2 (S. cerevisiae) (ESCO2), mRNA. 115 cell cycle|post-translational protein acetylation|regulation of DNA replication chromatin|nucleus acyltransferase activity|metal ion binding autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Ovarian(32;0.000953) UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132) AACTAATGATGAAGATAAATC 0.353000 SC Phocomelia syndrome 25 13 0 0 0.00010058 0 0 F5 2153 broad.mit.edu 37 1 169493087 169493087 + Nonsense_Mutation SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr1:169493087C>T uc001ggg.1 - 19 5989 c.5844G>A c.(5842-5844)tgG>tgA p.W1948* NM_000130 NP_000121 P12259 FA5_HUMAN Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA. 1948 F5/8 type C 1. 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) TTTCTACACTCCAAGCATTAT 0.323000 116 58 0 0 0.000781405 0 0 AKR1C3 8644 broad.mit.edu 37 10 5139644 5139644 + Nonsense_Mutation SNP C T T rs118150330 byFrequency TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr10:5139644C>T uc001ihr.3 + 2 454 c.271C>T c.(271-273)Cga>Tga p.R91* AKR1C3_uc021pml.1_Nonsense_Mutation_p.R91*|AKR1C3_uc010qap.2_Nonsense_Mutation_p.R68*|AKR1C3_uc010qaq.1_Nonsense_Mutation_p.R91*|AKR1C3_uc001ihu.3_Nonsense_Mutation_p.R91* NM_003739 NP_003730 P42330 AK1C3_HUMAN Homo sapiens aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) (AKR1C3), transcript variant 1, mRNA. 91 prostaglandin metabolic process cytoplasm aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1) 14 Dimethyl sulfoxide(DB01093)|NADH(DB00157) CACTTTTCATCGACCAGAGTT 0.393000 51 37 0 0 0.000270559 0 0 SPHKAP 80309 broad.mit.edu 37 2 228883076 228883076 + Missense_Mutation SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr2:228883076C>T uc002vpq.2 - 6 2541 c.2494G>A c.(2494-2496)Gaa>Aaa p.E832K SPHKAP_uc002vpp.2_Missense_Mutation_p.E832K|SPHKAP_uc010zlx.1_Missense_Mutation_p.E832K NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA. 832 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) AGATATATTTCCTTGGAGGAT 0.488000 71 11 0 0 0.000978159 0 0 CNGB3 54714 broad.mit.edu 37 8 87645038 87645038 + Missense_Mutation SNP A T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr8:87645038A>T uc003ydx.3 - 10 1310 c.1262T>A c.(1261-1263)gTt>gAt p.V421D CNGB3_uc010maj.3_Missense_Mutation_p.V283D NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA. 421 signal transduction|visual perception integral to membrane cGMP binding NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 GAGTTGAAAAACAATTTCAAA 0.353000 26 18 0 0 0.00074312 0 0 SCRIB 23513 broad.mit.edu 37 8 144885625 144885625 + Silent SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr8:144885625G>A uc003yzp.1 - 23 3538 c.3531C>T c.(3529-3531)ctC>ctT p.L1177L SCRIB_uc003yzn.1_5'UTR|SCRIB_uc003yzo.1_Silent_p.L1177L NM_015356 NP_056171 Q14160 SCRIB_HUMAN Homo sapiens scribbled homolog (Drosophila) (SCRIB), transcript variant 2, mRNA. 1177 Interaction with ARHGEF7.|PDZ 4. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction Scrib-APC-beta-catenin complex|cell-cell adherens junction protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) CCACACTGCGGAGCAGCTGCA 0.711000 8 4 0 0 3.59834e-05 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140187978 140187978 + Silent SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr5:140187978G>A uc003lhi.2 + 0 1307 c.1206G>A c.(1204-1206)aaG>aaA p.K402K PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Silent_p.K402K|PCDHAC2_uc011daa.2_Silent_p.K402K NM_018907 NP_061730 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA. 416 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) CCACCTTCAAGAATTACTACT 0.607000 120 6 0 0 8.12818e-05 0 0 ARHGAP31 57514 broad.mit.edu 37 3 119120970 119120970 + Silent SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr3:119120970G>A uc003ecj.4 + 9 1903 c.1371G>A c.(1369-1371)tcG>tcA p.S457S NM_020754 NP_065805 Q2M1Z3 RHG31_HUMAN Homo sapiens Rho GTPase activating protein 31 (ARHGAP31), mRNA. 457 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity p.S457S(2) breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 67 TCTACACTTCGAACGACAGCC 0.592000 28 24 0 0 0.000184323 0 0 LOC642846 642846 broad.mit.edu 37 12 9464362 9464362 + RNA SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr12:9464362C>T uc001qvp.2 + 13 c.1217C>T LOC642846_uc010sgp.1_Intron Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11-like (LOC642846), non-coding RNA. TGACAGAGGCCCTGCTCCTCT 0.552000 59 34 0 0 0.000692331 0 0 FMO1 2326 broad.mit.edu 37 1 171251405 171251405 + Silent SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr1:171251405C>T uc009wvz.3 + 6 1252 c.1116C>T c.(1114-1116)atC>atT p.I372I FMO1_uc010pme.2_Silent_p.I309I|FMO1_uc001ghl.3_Silent_p.I372I|FMO1_uc001ghm.3_Silent_p.I372I NM_002021 NP_002012 Q01740 FMO1_HUMAN Homo sapiens flavin containing monooxygenase 1 (FMO1), mRNA. 372 NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TTGGCCTCATCAAACCCTTGG 0.468000 64 26 0 0 0.000227799 0 0 PCDH18 54510 broad.mit.edu 37 4 138452867 138452867 + Missense_Mutation SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr4:138452867C>T uc003ihe.4 - 0 763 c.376G>A c.(376-378)Gaa>Aaa p.E126K PCDH18_uc003ihf.4_Missense_Mutation_p.E119K|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_5'UTR|PCDH18_uc011cha.2_Intron NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN Homo sapiens protocadherin 18 (PCDH18), mRNA. 126 Cadherin 1. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) TCCAGCACTTCAACTTCAATA 0.433000 49 19 0 0 0.000958276 0 0 HYDIN 54768 broad.mit.edu 37 16 70841912 70841912 + Silent SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr16:70841912G>A uc002ezr.3 - 85 15085 c.14934C>T c.(14932-14934)ggC>ggT p.G4978G HYDIN_uc010cfy.3_Non-coding_Transcript NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA. 4979 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) TGCCTCCCTGGCCTCCTGGGG 0.542000 40 22 0 0 0.000175454 0 0 NLGN4X 57502 broad.mit.edu 37 X 5811443 5811443 + Silent SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chrX:5811443G>A uc010ndi.3 - 6 2441 c.1977C>T c.(1975-1977)ccC>ccT p.P659P NLGN4X_uc004crp.3_Silent_p.P642P|NLGN4X_uc010ndh.3_Silent_p.P622P|NLGN4X_uc004crq.3_Silent_p.P622P|NLGN4X_uc004crr.3_Silent_p.P622P|NLGN4X_uc010ndj.3_Silent_p.P622P NM_181332 NP_851849 Q8N0W4 NLGNX_HUMAN Homo sapiens neuroligin 4, X-linked (NLGN4X), transcript variant 2, mRNA. 622 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 GGGTGCCATAGGGAAATGATG 0.488000 12 32 0 0 0.000680045 0 0 DMBT1 1755 broad.mit.edu 37 10 124402684 124402684 + Missense_Mutation SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr10:124402684C>T uc001lgk.1 + 52 7118 c.7012C>T c.(7012-7014)Cgc>Tgc p.R2338C DMBT1_uc001lgl.1_Missense_Mutation_p.R2328C|DMBT1_uc001lgm.1_Missense_Mutation_p.R1710C|DMBT1_uc021qaf.1_Missense_Mutation_p.R2338C|DMBT1_uc021qag.1_Missense_Mutation_p.R2328C|DMBT1_uc021qah.1_Missense_Mutation_p.R1710C|DMBT1_uc009xzz.1_Missense_Mutation_p.R2337C|DMBT1_uc010qtx.1_Missense_Mutation_p.R1058C|DMBT1_uc009yab.1_Missense_Mutation_p.R1041C|DMBT1_uc009yac.1_Missense_Mutation_p.R632C NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA. 2338 ZP. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GCCATCTCTTCGCATTGCCCG 0.567000 51 14 0 0 0.000132079 0 0 TRIML2 205860 broad.mit.edu 37 4 189012722 189012722 + Silent SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr4:189012722G>A uc011cle.1 - 7 1416 c.1194C>T c.(1192-1194)ttC>ttT p.F398F TRIML2_uc003izj.1_Silent_p.F151F|TRIML2_uc003izk.1_Silent_p.F131F|TRIML2_uc003izl.2_Silent_p.F323F NM_173553 NP_775824 Q8N7C3 TRIMM_HUMAN Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA. 323 ligase activity central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1) 39 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) CGCAGTCAAGGAAAACGCCAA 0.532000 78 40 0 0 0.000270559 0 0 MGC70870 403340 broad.mit.edu 37 GL000205.1 117666 117666 + RNA SNP G C C TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chrGL000205.1:117666G>C uc002kgk.4 + 0 c.1044G>C Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA. CGCGAGTTCAGAGCGTGGAGC 0.612000 8 3 0 0 6.4e-05 0 0 DNAH5 1767 broad.mit.edu 37 5 13776655 13776655 + Missense_Mutation SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr5:13776655G>A uc003jfd.2 - 54 9308 c.9266C>T c.(9265-9267)tCg>tTg p.S3089L NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 3089 AAA 4 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.S3089L(2) NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CCCCACTGGCGAGAAGCAGAG 0.478000 Kartagener syndrome 49 26 0 0 0.000720815 0 0 VIP 7432 broad.mit.edu 37 6 153076403 153076403 + Splice_Site SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr6:153076403G>A uc003qpe.3 + 4 403 c.231_splice c.e4-1 p.R77_splice VIP_uc003qpf.3_Splice_Site_p.R77_splice|VIP_uc010kjd.3_Splice_Site_p.R77_splice NM_003381 NP_003372 P01282 VIP_HUMAN Homo sapiens vasoactive intestinal peptide (VIP), transcript variant 1, mRNA. 77 G-protein coupled receptor protein signaling pathway|body fluid secretion|positive regulation of cell proliferation extracellular region neuropeptide hormone activity haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1) 6 Ovarian(120;0.0654) OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144) CCTTGTTTTAGAAATGCCAGG 0.323000 27 24 0 0 0.000586117 0 0 XDH 7498 broad.mit.edu 37 2 31600037 31600037 + Missense_Mutation SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr2:31600037C>T uc002rnv.1 - 13 1388 c.1309G>A c.(1309-1311)Ggc>Agc p.G437S NM_000379 NP_000370 P47989 XDH_HUMAN Homo sapiens xanthine dehydrogenase (XDH), mRNA. 437 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) ACTCTCATGCCACTGGTTACC 0.512000 66 9 0 0 0.000442599 0 0 SIRPG 55423 broad.mit.edu 37 20 1629866 1629866 + Missense_Mutation SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr20:1629866C>T uc002wfm.1 - 1 327 c.262G>A c.(262-264)Gta>Ata p.V88I SIRPG_uc002wfn.1_Missense_Mutation_p.V88I|SIRPG_uc002wfo.1_Missense_Mutation_p.V88I NM_018556 NP_061026 Q9P1W8 SIRPG_HUMAN Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA. 88 Ig-like V-type. blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of T cell activation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion integral to membrane|intracellular|plasma membrane protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1) 27 ACTGTTGTTACCCTGGGGAAG 0.507000 147 6 0 0 3.59834e-05 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110420352 110420352 + Nonsense_Mutation SNP G T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr8:110420352G>T uc003yne.3 + 17 1992 c.1888G>T c.(1888-1890)Gga>Tga p.G630* NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA. 630 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) ACAAACCAAAGGAAAACCCAA 0.403000 HNSCC(38;0.096) 42 18 1.33834e-09 1.64714e-08 0.000958276 1 0 TPP2 7174 broad.mit.edu 37 13 103309445 103309446 + Missense_Mutation DNP AC TT TT rs140116320 TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr13:103309445_103309446AC>TT uc001vpi.4 + 23 3095_3096 c.2992_2993AC>TT c.(2992-2994)aca>TTa p.T998L NM_003291 NP_003282 P29144 TPP2_HUMAN Homo sapiens tripeptidyl peptidase II (TPP2), mRNA. 998 proteolysis cytoplasm|nucleus aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 52 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) ACCTCCACCAACAAAGACTAAG 0.312000 110 16 0 0 6.4e-05 0 0 PRSS1 5644 broad.mit.edu 37 7 142459664 142459664 + Silent SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr7:142459664C>T uc003wak.2 + 2 257 c.240C>T c.(238-240)gtC>gtT p.V80V TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc011ksm.1_3'UTR|PRSS1_uc003wam.2_Silent_p.V20V NM_002769 NP_002760 P07477 TRY1_HUMAN Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA. 80 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) ACATCGAAGTCCTGGAGGGGA 0.542000 95 78 0 0 0.000781405 0 0 SI 6476 broad.mit.edu 37 3 164786967 164786967 + Missense_Mutation SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr3:164786967C>T uc003fei.3 - 3 335 c.272G>A c.(271-273)aGa>aAa p.R91K NM_001041 NP_001032 P14410 SUIS_HUMAN Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA. 91 P-type 1. 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 p.R91T(2) 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) GCAGCAGCCTCTCTGTGCACA 0.358000 HNSCC(35;0.089) 22 4 0 0 3.59834e-05 0 0 CLEC10A 10462 broad.mit.edu 37 17 6979192 6979192 + Missense_Mutation SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr17:6979192C>T uc002gek.3 - 6 836 c.533G>A c.(532-534)gGg>gAg p.G178E CLEC10A_uc002gej.3_Missense_Mutation_p.G154E|CLEC10A_uc010clv.2_Missense_Mutation_p.G151E NM_182906 NP_878910 Q8IUN9 CLC10_HUMAN Homo sapiens C-type lectin domain family 10, member A (CLEC10A), transcript variant 1, mRNA. 178 endocytosis|innate immune response integral to membrane|plasma membrane sugar binding central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1) 10 GCAGCAGGTCCCTTCAGTGGA 0.592000 32 17 0 0 0.00074312 0 0 C6 729 broad.mit.edu 37 5 41161815 41161815 + Missense_Mutation SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr5:41161815G>A uc003jmk.2 - 9 1648 c.1438C>T c.(1438-1440)Cct>Tct p.P480S C6_uc003jml.1_Missense_Mutation_p.P480S NM_000065 NP_001108603 P13671 CO6_HUMAN Homo sapiens complement component 6 (C6), transcript variant 1, mRNA. 480 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) ATCACAGCAGGATTTTCCTTC 0.408000 62 10 0 0 0.000673444 0 0 APOB 338 broad.mit.edu 37 2 21236264 21236264 + Silent SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr2:21236264G>A uc002red.3 - 24 4112 c.3984C>T c.(3982-3984)ttC>ttT p.F1328F NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 1328 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) ATGGCAGATGGAATCCCACAG 0.468000 274 137 0 0 0.000781405 0 0 CHRNB3 1142 broad.mit.edu 37 8 42587386 42587386 + Silent SNP T C C TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr8:42587386T>C uc003xpi.1 + 4 1064 c.936T>C c.(934-936)atT>atC p.I312I NM_000749 NP_000740 Q05901 ACHB3_HUMAN Homo sapiens cholinergic receptor, nicotinic, beta 3 (CHRNB3), mRNA. 312 synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 25 all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869) TGTCCATCATTGTTACCGTGT 0.438000 143 5 0 0 0.000602214 0 0 RYR2 6262 broad.mit.edu 37 1 237921070 237921071 + Nonsense_Mutation DNP AC GT GT TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr1:237921070_237921071AC>GT uc001hyl.1 + 81 11439_11440 c.11319_11320AC>GT c.(11317-11322)gtacag>gtGTag p.Q3774* RYR2_uc010pya.2_Nonsense_Mutation_p.Q189* NM_001035 NP_001026 Q92736 RYR2_HUMAN Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA. 3774 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ACTCCACAGTACAGCAGGTAAC 0.337000 49 21 0 0 6.4e-05 0 0 DNAH5 1767 broad.mit.edu 37 5 13762983 13762983 + Missense_Mutation SNP C G G TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr5:13762983C>G uc003jfd.2 - 59 10171 c.10129G>C c.(10129-10131)Gag>Cag p.E3377Q DNAH5_uc003jfc.2_5'UTR NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 3377 Stalk (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) TCTATCACCTCTTCATTGATT 0.368000 Kartagener syndrome 53 5 0 0 3.59834e-05 0 0 GLRA3 8001 broad.mit.edu 37 4 175710078 175710078 + Missense_Mutation SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr4:175710078C>T uc003ity.1 - 1 591 c.88G>A c.(88-90)Gaa>Aaa p.E30K GLRA3_uc003itz.1_Missense_Mutation_p.E30K NM_006529 NP_006520 O75311 GLRA3_HUMAN Homo sapiens glycine receptor, alpha 3 (GLRA3), transcript variant 1, mRNA. 30 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 35 Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107) all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421) Glycine(DB00145) CTGTCTGTTTCCTTTGTGGCA 0.338000 26 13 0 0 0.000219431 0 0 KNDC1 85442 broad.mit.edu 37 10 135025254 135025254 + Silent SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr10:135025254G>A uc001llz.1 + 22 4129 c.4128G>A c.(4126-4128)gaG>gaA p.E1376E NM_152643 NP_689856 Q76NI1 VKIND_HUMAN Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA. 1376 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 60 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) GGCGGGCCGAGGGCAACCCTC 0.667000 26 7 0 0 0.000157383 0 0 B3GALT1 8708 broad.mit.edu 37 2 168726189 168726189 + Missense_Mutation SNP C T T rs144099662 byFrequency TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr2:168726189C>T uc021vsc.1 + 0 640 c.640C>T c.(640-642)Cgg>Tgg p.R214W B3GALT1_uc002udz.1_Missense_Mutation_p.R214W NM_020981 NP_066191 Q9Y5Z6 B3GT1_HUMAN Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1 (B3GALT1), mRNA. 214 lipid glycosylation|protein glycosylation Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity p.R214R(2) cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 18 AGGACCGATTCGGGATGTCCG 0.438000 43 14 0 0 0.000308642 0 0 SLX4 84464 broad.mit.edu 37 16 3641157 3641157 + Missense_Mutation SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr16:3641157C>T uc002cvp.2 - 11 3109 c.2482G>A c.(2482-2484)Gag>Aag p.E828K NM_032444 NP_115820 Q8IY92 SLX4_HUMAN Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA. 828 Glu-rich.|Interaction with PLK1 and TERF2-TERF2IP. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 TCCGCTTCCTCCTCTTCATCT 0.458000 Direct reversal of damage 98 63 0 0 0.000781405 0 0 OTX1 5013 broad.mit.edu 37 2 63282748 63282748 + Missense_Mutation SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr2:63282748C>T uc021vim.1 + 4 638 c.362C>T c.(361-363)tCc>tTc p.S121F OTX1_uc002scd.3_Missense_Mutation_p.S121F|OTX1_uc010ypt.2_Missense_Mutation_p.S55F NM_001199770 NP_001186699 P32242 OTX1_HUMAN Homo sapiens orthodenticle homeobox 1 (OTX1), transcript variant 2, mRNA. 121 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Lung NSC(7;0.121)|all_lung(7;0.211) AGCTCGGGCTCCGAAAGCAGT 0.667000 25 5 0 0 3.59834e-05 0 0 DBX2 440097 broad.mit.edu 37 12 45410273 45410273 + Silent SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr12:45410273G>A uc001rok.1 - 3 988 c.816C>T c.(814-816)ttC>ttT p.F272F NM_001004329 NP_001004329 Q6ZNG2 DBX2_HUMAN Homo sapiens developing brain homeobox 2 (DBX2), mRNA. 272 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 22 Lung SC(27;0.192) Lung NSC(34;0.142) GBM - Glioblastoma multiforme(48;0.0515) ATGGAGAAGGGAAACCCAGAG 0.483000 56 29 0 0 0.00106085 0 0 CIR1 9541 broad.mit.edu 37 2 175245530 175245530 + Splice_Site SNP A G G TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr2:175245530A>G uc002uim.3 - 4 345 c.252_splice c.e4+1 p.E84_splice CIR1_uc002uin.3_Splice_Site NM_004882 NP_004873 Q86X95 CIR1_HUMAN Homo sapiens corepressor interacting with RBPJ, 1 (CIR1), mRNA. 84 Interaction with RBPJ. RNA splicing|mRNA processing|negative regulation of transcription, DNA-dependent nuclear speck protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1) 15 ATAGTACTTTACCTCTTTGTT 0.244000 38 14 0 0 0.00074312 0 0 KDM4D 55693 broad.mit.edu 37 11 94731342 94731342 + Missense_Mutation SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr11:94731342G>A uc021qow.1 + 0 806 c.806G>A c.(805-807)gGa>gAa p.G269E KDM4D_uc001pfe.3_Missense_Mutation_p.G269E NM_018039 NP_060509 Q6B0I6 KDM4D_HUMAN Homo sapiens lysine (K)-specific demethylase 4D (KDM4D), mRNA. 269 JmjC. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 CAGGAGGCTGGAGAGTTCATG 0.537000 74 34 0 0 0.000692331 0 0 DSG1 1828 broad.mit.edu 37 18 28906914 28906914 + Silent SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr18:28906914C>T uc002kwp.3 + 2 374 c.162C>T c.(160-162)ttC>ttT p.F54F NM_001942 NP_001933 Q02413 DSG1_HUMAN Homo sapiens desmoglein 1 (DSG1), mRNA. 54 Cadherin 1. calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding p.F54F(2) NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) GGATCAAGTTCGCAGCAGCCT 0.393000 33 33 0 0 0.00058488 0 0 BTN1A1 696 broad.mit.edu 37 6 26508961 26508961 + Missense_Mutation SNP G A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr6:26508961G>A uc003nif.4 + 6 1197 c.1140G>A c.(1138-1140)atG>atA p.M380I NM_001732 NP_001723 Q13410 BT1A1_HUMAN Homo sapiens butyrophilin, subfamily 1, member A1 (BTN1A1), mRNA. 380 B30.2/SPRY. extracellular region|integral to plasma membrane receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1) 26 AGAATGTGATGAAGAAAGGAT 0.557000 91 8 0 0 0.000274275 0 0 KLHL17 339451 broad.mit.edu 37 1 900534 900534 + Missense_Mutation SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr1:900534C>T uc001aca.2 + 11 1999 c.1892C>T c.(1891-1893)tCc>tTc p.S631F KLHL17_uc001acc.2_Non-coding_Transcript|PLEKHN1_uc001acd.3_5'Flank|PLEKHN1_uc001acf.3_5'Flank|PLEKHN1_uc001ace.3_5'Flank NM_198317 NP_938073 Q6TDP4 KLH17_HUMAN Homo sapiens kelch-like 17 (Drosophila) (KLHL17), mRNA. 631 Interaction with F-actin (By similarity). actin cytoskeleton organization actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane protein complex scaffold central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CCGCCGCCATCCTCCCCGACG 0.662000 16 17 0 0 0.000958276 0 0 HS6ST3 266722 broad.mit.edu 37 13 97485276 97485276 + Missense_Mutation SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr13:97485276C>T uc001vmw.3 + 1 1264 c.1240C>T c.(1240-1242)Ctc>Ttc p.L414F NM_153456 NP_703157 Q8IZP7 H6ST3_HUMAN Homo sapiens heparan sulfate 6-O-sulfotransferase 3 (HS6ST3), mRNA. 414 integral to membrane sulfotransferase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1) 20 all_neural(89;0.0878)|Medulloblastoma(90;0.163) TGCAAAAGATCTCTTCCAGCA 0.587000 70 22 0 0 0.000295444 0 0 ZNF625 90589 broad.mit.edu 37 19 12257028 12257028 + Missense_Mutation SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr19:12257028C>T uc010dyo.2 - 3 376 c.203G>A c.(202-204)gGa>gAa p.G68E ZNF20_uc002mtg.2_Intron|ZNF625_uc010dyn.2_Non-coding_Transcript|ZNF625_uc002mth.3_Missense_Mutation_p.G2E|ZNF625_uc021upn.1_Missense_Mutation_p.G2E NM_145233 NP_660276 Q96I27 ZN625_HUMAN Homo sapiens zinc finger protein 625 (ZNF625), transcript variant 1, mRNA. 2 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2) 14 GAGTCTCTCTCCCATAAGACC 0.368000 42 7 0 0 0.000274275 0 0 PPYR1 5540 broad.mit.edu 37 10 47087185 47087185 + Silent SNP C T T TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr10:47087185C>T uc001jee.3 + 2 821 c.402C>T c.(400-402)ctC>ctT p.L134L ANXA8L1_uc001jed.4_Intron|PPYR1_uc009xna.3_Silent_p.L134L|PPYR1_uc021ppu.1_Silent_p.L134L NM_005972 NP_005963 P50391 NPY4R_HUMAN Homo sapiens pancreatic polypeptide receptor 1 (PPYR1), mRNA. 134 blood circulation|digestion|feeding behavior integral to plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 CGCTCGTCCTCGTGGCCCTGG 0.567000 139 22 0 0 0.00106085 0 0 ZBTB17 7709 broad.mit.edu 37 1 16270856 16270856 + Frame_Shift_Del DEL A - - TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr1:16270856delA uc001axl.4 - 8 1549 c.1310delT c.(1309-1311)ctgfs p.L437fs ZBTB17_uc010obs.2_Frame_Shift_Del_p.L361fs|ZBTB17_uc010obq.2_Frame_Shift_Del_p.L355fs|ZBTB17_uc010obr.2_Frame_Shift_Del_p.L437fs|ZBTB17_uc010obt.1_Frame_Shift_Del_p.L374fs|ZBTB17_uc010obu.2_Frame_Shift_Del_p.L393fs NM_003443 NP_003434 Q13105 ZBT17_HUMAN Homo sapiens zinc finger and BTB domain containing 17 (ZBTB17), transcript variant 2, mRNA. 437 negative regulation of cell cycle nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2) 15 Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649) GTGGGTCTCCAGGTGGCGCAT 0.647 --- 4 --- --- 2 --- SYCP1 6847 broad.mit.edu 37 1 115537600 115537601 + Frame_Shift_Ins INS - A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr1:115537600_115537601insA uc001efr.3 + 31 3100_3101 c.2891_2892insA c.(2890-2892)agafs p.R964fs SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Frame_Shift_Ins_p.R964fs|SYCP1_uc009wgw.3_Frame_Shift_Ins_p.R939fs NM_003176 NP_003167 Q15431 SYCP1_HUMAN Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA. 964 Arg/Lys-rich (basic). cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) AAAATGGATAGAAAAAAAAAAC 0.356 --- 86 --- --- 8 --- DCP1A 55802 broad.mit.edu 37 3 53326674 53326675 + Frame_Shift_Ins INS - A A TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr3:53326674_53326675insA uc021wzi.1 - 6 917_918 c.807_808insT c.(805-810)cctcaafs p.P269fs DCP1A_uc021wzk.1_Frame_Shift_Ins_p.P231fs NM_018403 NP_060873 Q9NPI6 DCP1A_HUMAN Homo sapiens DCP1 decapping enzyme homolog A (S. cerevisiae) (DCP1A), mRNA. 269 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasmic mRNA processing body|cytosol|nucleus hydrolase activity|protein binding p.Q270E(2) breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647) GTTTCTGATTGAGGGGCTCCTC 0.530 --- 13 --- --- 6 --- PODXL 5420 broad.mit.edu 37 7 131241030 131241035 + In_Frame_Del DEL GGCGAC - - rs11277659 TCGA-EB-A299-01A-21D-A197-08 TCGA-EB-A299-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70bd349e-3f26-4201-bc6a-5c04abff3460 d7d2b491-8dce-44f5-8fdd-19b64c1a2684 g.chr7:131241030_131241035delGGCGAC uc003vqw.4 - 0 342_347 c.84_89delGTCGCC c.(82-90)ccgtcgccc>ccc p.28_30PSP>P PODXL_uc003vqx.4_In_Frame_Del_p.28_30PSP>P NM_001018111 NP_001018121 O00592 PODXL_HUMAN Homo sapiens podocalyxin-like (PODXL), transcript variant 1, mRNA. 28 cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle p.P30_S31delPS(4) NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Melanoma(18;0.162) ATTCTGGGAGggcgacggcgacggcg 0.748 --- 4 --- --- 3 ---