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 ROCK1 6093 broad.mit.edu 37 18 18622602 18622602 + Silent SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr18:18622602G>A uc002kte.3 - 6 1685 c.744C>T c.(742-744)tcC>tcT p.S248S NM_005406 NP_005397 Q13464 ROCK1_HUMAN Homo sapiens Rho-associated, coiled-coil containing protein kinase 1 (ROCK1), mRNA. 248 Protein kinase. Rho protein signal transduction|actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking Golgi membrane|centriole|cytosol ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2) 16 Melanoma(1;0.165) CACCACCTTGGGATTTTAATA 0.403000 50 35 0 0 1 0 0 CWC25 54883 broad.mit.edu 37 17 36965995 36965995 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr17:36965995G>A uc002hqu.3 - 5 803 c.650C>T c.(649-651)tCc>tTc p.S217F CWC25_uc010wdv.2_Missense_Mutation_p.S154F|CWC25_uc010wdw.1_Non-coding_Transcript|CWC25_uc010wdx.1_Non-coding_Transcript NM_017748 NP_060218 Q9NXE8 CWC25_HUMAN Homo sapiens CWC25 spliceosome-associated protein homolog (S. cerevisiae) (CWC25), mRNA. 217 central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1) 14 AACAGGGGAGGAATTTGCCAT 0.408000 16 5 0 0 1 0 0 MSH5 4439 broad.mit.edu 37 6 31729911 31729911 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr6:31729911G>A uc003nwu.2 + 23 2473 c.2345G>A c.(2344-2346)gGa>gAa p.G782E MSH5_uc003nwx.2_Missense_Mutation_p.G769E|MSH5_uc003nwv.2_Missense_Mutation_p.G781E|MSH5_uc003nww.2_Missense_Mutation_p.G781E|MSH5_uc011dof.1_Missense_Mutation_p.G480E|MSH5_uc003nwy.1_Missense_Mutation_p.G425E|SAPCD1_uc003nwz.4_5'UTR NM_172165 NP_751897 O43196 MSH5_HUMAN Homo sapiens mutS homolog 5 (E. coli) (MSH5), transcript variant 2, mRNA. 781 chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding breast(1)|ovary(2)|skin(2) 5 ATCCGCAGTGGAAAACCCATC 0.488000 Direct reversal of damage;Mismatch excision repair (MMR) 38 16 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238245168 238245168 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:238245168G>A uc002vwl.2 - 39 8860 c.8575C>T c.(8575-8577)Ccg>Tcg p.P2859S COL6A3_uc002vwo.2_Missense_Mutation_p.P2653S|COL6A3_uc010znj.1_Missense_Mutation_p.P2252S|COL6A3_uc002vwj.2_Missense_Mutation_p.P240S NM_004369 NP_004360 P12111 CO6A3_HUMAN Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA. 2859 Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) ACGTTATTCGGAACATTTCTG 0.393000 50 37 0 0 1 0 0 LRPPRC 10128 broad.mit.edu 37 2 44128516 44128516 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:44128516G>A uc002rtr.2 - 31 3570 c.3512C>T c.(3511-3513)tCc>tTc p.S1171F LRPPRC_uc010yob.1_Missense_Mutation_p.S1071F NM_133259 NP_573566 P42704 LPPRC_HUMAN Homo sapiens leucine-rich PPR-motif containing (LRPPRC), mRNA. 1171 RNA-binding. mRNA transport|mitochondrion transport along microtubule|regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm RNA binding|beta-tubulin binding|microtubule binding breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2) 41 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) AAGTCCAATGGAGTCTTCGAG 0.393000 37 22 0 0 1 0 0 NUDT1 4521 broad.mit.edu 37 7 2289596 2289596 + Missense_Mutation SNP T C C TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr7:2289596T>C uc003slp.1 + 3 428 c.326T>C c.(325-327)tTc>tCc p.F109S NUDT1_uc003slq.1_Missense_Mutation_p.F86S|NUDT1_uc003slr.1_Missense_Mutation_p.F86S|NUDT1_uc003sls.1_Missense_Mutation_p.F109S|NUDT1_uc003slt.1_Missense_Mutation_p.F86S|NUDT1_uc003slu.1_Missense_Mutation_p.F109S|NUDT1_uc003slv.1_Missense_Mutation_p.F86S NM_198949 NP_945191 P36639 8ODP_HUMAN Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 1 (NUDT1), transcript variant 2B, mRNA. 127 Nudix hydrolase. DNA protection|DNA repair|response to oxidative stress cytoplasm 8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity|GTPase activity|metal ion binding|protein binding large_intestine(3)|lung(8)|urinary_tract(1) 12 Ovarian(82;0.0253)|Melanoma(862;0.155) UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.8e-14)|BRCA - Breast invasive adenocarcinoma(126;0.15) GTGCATGTCTTCTGCACAGAC 0.642000 Modulation of nucleotide pools 81 54 0 0 1 0 0 ZDBF2 57683 broad.mit.edu 37 2 207171218 207171218 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:207171218C>T uc002vbp.2 + 4 2216 c.1966C>T c.(1966-1968)Ctt>Ttt p.L656F NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA. 656 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 GAATGCTGACCTTATGGATAT 0.433000 23 18 0 0 1 0 0 NTRK2 4915 broad.mit.edu 37 9 87338524 87338524 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr9:87338524C>T uc004aoa.1 + 8 1558 c.620C>T c.(619-621)aCt>aTt p.T207I NTRK2_uc004anv.1_Missense_Mutation_p.T207I|NTRK2_uc004any.1_Missense_Mutation_p.T207I|NTRK2_uc004anz.1_Missense_Mutation_p.T207I|NTRK2_uc004aob.1_Missense_Mutation_p.T207I|NTRK2_uc011lsz.2_Missense_Mutation_p.T207I|NTRK2_uc011lta.2_Missense_Mutation_p.T207I|NTRK2_uc011ltb.1_Missense_Mutation_p.T51I NM_001018064 NP_001018074 Q16620 NTRK2_HUMAN Homo sapiens neurotrophic tyrosine kinase, receptor, type 2 (NTRK2), transcript variant c, mRNA. 207 Ig-like C2-type 1. activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 46 CCTAACCTCACTGTGGAGGAA 0.408000 TSP Lung(25;0.17) 11 29 0 0 1 0 0 FLRT3 23767 broad.mit.edu 37 20 14307062 14307062 + Missense_Mutation SNP A G G TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr20:14307062A>G uc021war.1 - 0 1091 c.1091T>C c.(1090-1092)aTt>aCt p.I364T MACROD2_uc002wot.3_Intron|MACROD2_uc002wou.3_Intron|FLRT3_uc002wov.2_Missense_Mutation_p.I364T|FLRT3_uc002wow.2_Missense_Mutation_p.I364T NM_198391 NP_938205 Q9NZU0 FLRT3_HUMAN Homo sapiens fibronectin leucine rich transmembrane protein 3 (FLRT3), transcript variant 2, mRNA. 364 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Colorectal(1;0.0464) COAD - Colon adenocarcinoma(2;0.129) Colorectal(1;0.0393) GGTTATCTGAATGGTGCTTAC 0.488000 60 34 0 0 1 0 0 ALDH1A1 216 broad.mit.edu 37 9 75526907 75526907 + Missense_Mutation SNP A C C TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr9:75526907A>C uc004ajd.3 - 9 1484 c.1167T>G c.(1165-1167)aaT>aaG p.N389K ALDH1A1_uc011lsh.2_Missense_Mutation_p.N310K|ALDH1A1_uc011lsg.2_Missense_Mutation_p.N215K NM_000689 NP_000680 P00352 AL1A1_HUMAN Homo sapiens aldehyde dehydrogenase 1 family, member A1 (ALDH1A1), mRNA. 389 cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process cytosol Ras GTPase activator activity|aldehyde dehydrogenase (NAD) activity|androgen binding|retinal dehydrogenase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1) 17 NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) CATCTGTAACATTAGAGAACA 0.453000 13 30 0 0 1 0 0 PRKAR1A 5573 broad.mit.edu 37 17 66522027 66522027 + Nonsense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr17:66522027C>T uc002jhg.3 + 6 862 c.682C>T c.(682-684)Cga>Tga p.R228* PRKAR1A_uc002jhh.3_Nonsense_Mutation_p.R228*|PRKAR1A_uc002jhi.3_Nonsense_Mutation_p.R228*|PRKAR1A_uc002jhj.3_Nonsense_Mutation_p.R228*|PRKAR1A_uc002jhk.3_Nonsense_Mutation_p.R104*|PRKAR1A_uc002jhl.3_Nonsense_Mutation_p.R228* NM_212471 NP_997637 P10644 KAP0_HUMAN Homo sapiens protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1) (PRKAR1A), transcript variant 2, mRNA. 228 activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport cAMP-dependent protein kinase complex|cytosol cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1) 31 Breast(10;1.64e-13) GGGCATCGACCGAGACAGCTA 0.418000 """T, Mis, N, F, S""" RET papillary thyroid """myxoma, endocrine, papillary thyroid""" Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of 5 14 0 0 1 0 0 OR4N3P 390539 broad.mit.edu 37 15 22413992 22413992 + Silent SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr15:22413992C>T uc001yuf.3 + 0 531 c.291C>T c.(289-291)ttC>ttT p.F97F abParts_uc001yuj.2_Intron Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA. TGGACAACTTCTTCTGTGATG 0.512000 189 33 0 0 1 0 0 SYK 6850 broad.mit.edu 37 9 93650798 93650798 + Splice_Site SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr9:93650798G>A uc004aqz.3 + 13 1928 c.1723_splice c.e13-1 p.G575_splice SYK_uc004ara.3_Splice_Site_p.G552_splice|SYK_uc004arb.3_Splice_Site_p.G552_splice|SYK_uc004arc.3_Splice_Site_p.G575_splice|SYK_uc011ltt.2_Splice_Site|SYK_uc011ltr.2_Splice_Site|SYK_uc011lts.2_Splice_Site NM_003177 NP_003168 P43405 KSYK_HUMAN Homo sapiens spleen tyrosine kinase (SYK), transcript variant 1, mRNA. 575 Protein kinase. cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly T cell receptor complex|cytosol ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2) 26 ATGTTGTAGGGGATGAAAGGA 0.428000 T """ETV6, ITK""" """MDS, peripheral T-cell lymphoma""" 9 4 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13769570 13769570 + Missense_Mutation SNP A G G TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr12:13769570A>G uc001rbt.2 - 4 1326 c.1147T>C c.(1147-1149)Tcc>Ccc p.S383P NM_000834 NP_000825 Q13224 NMDE2_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA. 383 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding p.S383F(1)|p.K382N(1) NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) ATCTGCAGGGACTTGTCTTTC 0.498000 31 15 0 0 1 0 0 BV13S6J2.1 0 broad.mit.edu 37 7 142162077 142162077 + Nonsense_Mutation SNP A T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr7:142162077A>T uc011krx.2 - 1 213 c.198T>A c.(196-198)taT>taA p.Y66* TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc022ani.1_Non-coding_Transcript|BV13S6J2.1_uc011krw.2_Nonsense_Mutation_p.Y66* SubName: Full=BV13S6J2.1 protein; Flags: Fragment; CAACTGAATAATAAATCAGCT 0.483000 91 67 0 0 1 0 0 MYO5B 4645 broad.mit.edu 37 18 47500851 47500851 + Silent SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr18:47500851C>T uc002leb.2 - 9 1479 c.1191G>A c.(1189-1191)gtG>gtA p.V397V MYO5B_uc021ukb.1_Silent_p.V396V NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN Homo sapiens myosin VB (MYO5B), mRNA. 397 Myosin head-like. protein transport myosin complex ATP binding|actin binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) GCGCATTGATCACCTGCTGCA 0.587000 53 24 0 0 1 0 0 DNTTIP2 30836 broad.mit.edu 37 1 94342620 94342620 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr1:94342620C>T uc001dqf.3 - 1 929 c.871G>A c.(871-873)Gaa>Aaa p.E291K DNTTIP2_uc010otm.2_Non-coding_Transcript|DNTTIP2_uc009wdo.2_Missense_Mutation_p.E86K NM_014597 NP_055412 Q5QJE6 TDIF2_HUMAN Homo sapiens deoxynucleotidyltransferase, terminal, interacting protein 2 (DNTTIP2), mRNA. 291 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 38 all_lung(203;0.0111)|Lung NSC(277;0.0347) all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128) TGTTTTGTTTCTTTAAGAGAT 0.338000 5 13 0 0 1 0 0 ZNF275 10838 broad.mit.edu 37 X 152613170 152613170 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chrX:152613170C>T uc011myn.2 + 1 1740 c.838C>T c.(838-840)Cac>Tac p.H280Y ZNF275_uc004fhg.2_Intron|ZNF275_uc022cht.1_Missense_Mutation_p.H280Y|ZNF275_uc022chu.1_5'Flank NM_001080485 NP_001073954 A6NFS0 A6NFS0_HUMAN Homo sapiens zinc finger protein 275 (ZNF275), mRNA. 259 intracellular nucleic acid binding|zinc ion binding p.S280C(1) endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 16 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CGCACGCATCCACAGTGGCGA 0.682000 6 12 0 0 1 0 0 AIFM1 9131 broad.mit.edu 37 X 129290468 129290468 + Silent SNP A G G TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chrX:129290468A>G uc004evg.3 - 1 447 c.216T>C c.(214-216)atT>atC p.I72I AIFM1_uc011mus.2_Silent_p.I72I|AIFM1_uc004evh.3_Intron|AIFM1_uc004evi.3_Intron|AIFM1_uc004evk.3_Intron NM_004208 NP_004199 O95831 AIFM1_HUMAN Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 1 (AIFM1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 72 DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1) 30 ATAAGCCCACAATAAGGACTA 0.443000 13 60 0 0 1 0 0 SLC36A2 153201 broad.mit.edu 37 5 150718678 150718678 + Silent SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr5:150718678G>A uc003lty.3 - 4 598 c.468C>T c.(466-468)atC>atT p.I156I SLC36A2_uc003ltz.3_Intron|SLC36A2_uc003lua.3_Intron|SLC36A2_uc010jhv.2_Silent_p.I156I|SLC36A2_uc011dct.1_Silent_p.I156I NM_181776 NP_861441 Q495M3 S36A2_HUMAN Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 2 (SLC36A2), mRNA. 156 I -> N (in Ref. 1; AAO11788). cellular nitrogen compound metabolic process cytoplasm|integral to membrane|plasma membrane glycine transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CAAGTTGGGTGATAATAAGGA 0.398000 16 36 0 0 1 0 0 CHAC2 494143 broad.mit.edu 37 2 54001462 54001462 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:54001462C>T uc002rxk.1 + 2 450 c.355C>T c.(355-357)Ctt>Ttt p.L119F GPR75-ASB3_uc021vhl.1_Intron|GPR75-ASB3_uc002rxg.2_Intron|GPR75-ASB3_uc002rxh.2_Intron|GPR75-ASB3_uc002rxi.4_Intron|GPR75-ASB3_uc010yoo.2_Intron NM_001008708 NP_001008708 Q8WUX2 CHAC2_HUMAN Homo sapiens ChaC, cation transport regulator homolog 2 (E. coli) (CHAC2), mRNA. 119 endometrium(1)|large_intestine(2)|lung(4)|prostate(1) 8 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) TCCTGATTATCTTGGTCCTGC 0.358000 41 22 0 0 1 0 0 KIAA1683 80726 broad.mit.edu 37 19 18377106 18377106 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:18377106G>A uc010ebn.2 - 2 1460 c.1244C>T c.(1243-1245)cCa>cTa p.P415L KIAA1683_uc002nin.2_Missense_Mutation_p.P415L|KIAA1683_uc010xqe.1_Missense_Mutation_p.P369L NM_001145304 NP_001138776 Q9H0B3 K1683_HUMAN Homo sapiens KIAA1683 (KIAA1683), transcript variant 1, mRNA. 415 Thr-rich. mitochondrion breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 TGTCTGCCGTGGGGTGCCAGT 0.602000 38 28 0 0 1 0 0 PKD2L2 27039 broad.mit.edu 37 5 137243556 137243556 + Nonsense_Mutation SNP T A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr5:137243556T>A uc003lby.3 + 6 1157 c.1101T>A c.(1099-1101)taT>taA p.Y367* PKD2L2_uc003lbw.1_Nonsense_Mutation_p.Y367*|PKD2L2_uc003lbx.3_Nonsense_Mutation_p.Y367*|PKD2L2_uc011cyi.1_5'UTR NM_014386 NP_055201 Q9NZM6 PK2L2_HUMAN Homo sapiens polycystic kidney disease 2-like 2 (PKD2L2), mRNA. 367 integral to membrane calcium ion binding|ion channel activity breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2) 28 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) GGCACATTTATTACAATAATA 0.259000 2 10 0 0 1 0 0 MCTP2 55784 broad.mit.edu 37 15 94883438 94883438 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr15:94883438G>A uc002btj.3 + 4 856 c.791G>A c.(790-792)cGa>cAa p.R264Q MCTP2_uc010urg.1_Missense_Mutation_p.R264Q|MCTP2_uc002bti.2_Missense_Mutation_p.R264Q|MCTP2_uc010boj.3_5'UTR|MCTP2_uc010bok.3_Missense_Mutation_p.R264Q|MCTP2_uc002btg.4_Missense_Mutation_p.R264Q|MCTP2_uc002bth.4_Missense_Mutation_p.R264Q NM_018349 NP_060819 Q6DN12 MCTP2_HUMAN Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA. 264 C2 1. calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) GTATATGATCGAGATTTAACC 0.318000 40 19 0 0 1 0 0 CD34 947 broad.mit.edu 37 1 208062533 208062533 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr1:208062533C>T uc001hgw.1 - 5 1038 c.780G>A c.(778-780)atG>atA p.M260I CD34_uc001hgv.1_Missense_Mutation_p.M102I|CD34_uc001hgx.1_Missense_Mutation_p.M260I|CD34_uc010psj.1_Missense_Mutation_p.M125I NM_001025109 NP_001020280 P28906 CD34_HUMAN Homo sapiens CD34 molecule (CD34), transcript variant 1, mRNA. 260 cell-cell adhesion|leukocyte migration|regulation of immune response integral to membrane carbohydrate binding kidney(2)|large_intestine(2)|lung(8)|ovary(1) 13 GGTGCTTTTTCATAAGTTGGA 0.483000 63 36 0 0 1 0 0 IRX4 50805 broad.mit.edu 37 5 1879629 1879629 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr5:1879629G>A uc003jcz.2 - 3 844 c.725C>T c.(724-726)tCc>tTc p.S242F IRX4_uc011cmf.1_Missense_Mutation_p.S103F NM_016358 NP_057442 P78413 IRX4_HUMAN Homo sapiens iroquois homeobox 4 (IRX4), mRNA. 242 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) TGCGTTCTTGGAGCTCTTGAG 0.682000 8 23 0 0 1 0 0 PID1 55022 broad.mit.edu 37 2 229890561 229890561 + Silent SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:229890561G>A uc002vpr.4 - 2 578 c.540C>T c.(538-540)ttC>ttT p.F180F PID1_uc002vps.4_Silent_p.F178F|PID1_uc002vpt.4_Silent_p.F147F|PID1_uc002vpu.4_Silent_p.F98F NM_001100818 NP_001094288 Q7Z2X4 PCLI1_HUMAN Homo sapiens phosphotyrosine interaction domain containing 1 (PID1), transcript variant 2, mRNA. 180 PID. cytoplasm p.F178F(2) breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 26 Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171) Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189) AGACCCAGGCGAAGATGTTGG 0.602000 39 34 0 0 1 0 0 WBSCR17 64409 broad.mit.edu 37 7 70853245 70853245 + Silent SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr7:70853245G>A uc003tvy.3 + 2 447 c.447G>A c.(445-447)aaG>aaA p.K149K WBSCR17_uc003tvz.3_5'UTR NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA. 149 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) AGTACTCCAAGGACCTGCCCC 0.537000 20 16 0 0 1 0 0 INPP5K 51763 broad.mit.edu 37 17 1416798 1416798 + Silent SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr17:1416798G>A uc002fsr.3 - 2 599 c.210C>T c.(208-210)gaC>gaT p.D70D INPP5K_uc002fss.3_5'UTR|INPP5K_uc002fsq.3_5'UTR|INPP5K_uc010cjr.3_5'UTR|INPP5K_uc010vql.2_Intron|INPP5K_uc010vqm.2_Silent_p.D70D|INPP5K_uc010cjs.2_Intron NM_016532 NP_570122 Q9BT40 INP5K_HUMAN Homo sapiens inositol polyphosphate-5-phosphatase K (INPP5K), transcript variant 1, mRNA. 70 Catalytic (Potential). actin cytoskeleton organization cytosol|endoplasmic reticulum|membrane fraction|neuron projection|ruffle inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol bisphosphate phosphatase activity|inositol trisphosphate phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|lipid phosphatase activity|protein binding endometrium(1)|large_intestine(7)|lung(3)|skin(1) 12 TGCTCCACGAGTCATTAAAGG 0.507000 67 40 0 0 1 0 0 ABCC4 10257 broad.mit.edu 37 13 95727797 95727797 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr13:95727797G>A uc001vmd.4 - 21 2814 c.2695C>T c.(2695-2697)Cca>Tca p.P899S ABCC4_uc010afk.3_Missense_Mutation_p.P852S NM_005845 NP_005836 O15439 MRP4_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA. 899 ABC transmembrane type-1 2. platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) GAAAACACTGGACTCCGAGCT 0.532000 30 25 0 0 1 0 0 ITIH3 3699 broad.mit.edu 37 3 52836730 52836730 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr3:52836730G>A uc003dfv.2 + 12 1653 c.1617G>A c.(1615-1617)atG>atA p.M539I ITIH3_uc011bek.1_Intron NM_002217 NP_002208 Q06033 ITIH3_HUMAN Homo sapiens inter-alpha-trypsin inhibitor heavy chain 3 (ITIH3), mRNA. 539 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 25 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) TGAAGGAGATGGAGAAGGCCC 0.592000 18 22 0 0 1 0 0 TYW1 55253 broad.mit.edu 37 7 66489964 66489964 + Missense_Mutation SNP T G G TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr7:66489964T>G uc003tvn.3 + 6 1088 c.939T>G c.(937-939)gaT>gaG p.D313E TYW1_uc010lai.3_Non-coding_Transcript NM_018264 NP_060734 Q9NV66 TYW1_HUMAN Homo sapiens tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) (TYW1), mRNA. 313 tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity p.D313N(1) breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2) 46 Lung NSC(55;0.0846)|all_lung(88;0.183) CCATTGTTGATGTTGAAGATT 0.423000 26 23 0 0 1 0 0 CYP3A7 1551 broad.mit.edu 37 7 99272209 99272209 + Splice_Site SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr7:99272209C>T uc003urq.3 - 3 268 c.166_splice c.e3-1 p.G56_splice ZNF498_uc003urn.3_Intron|CYP3A7_uc003urr.3_Splice_Site|CYP3A7_uc011kiy.2_Splice_Site_p.G46_splice|CYP3A7_uc003urs.3_Intron|CYP3A7_uc010lgg.3_Intron|CYP3A7_uc003urt.3_Splice_Site_p.G56_splice NM_000777 NP_000768 P24462 CP3A7_HUMAN Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 5 (CYP3A5), transcript variant 1, mRNA. 56 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 32 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) TCCAGAGACCCTGGGAGAGGA 0.393000 31 11 0 0 1 0 0 MAPT 4137 broad.mit.edu 37 17 44061091 44061091 + Silent SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr17:44061091C>T uc002ijr.4 + 5 1243 c.921C>T c.(919-921)atC>atT p.I307I MAPT_uc010dau.3_Silent_p.I307I|MAPT_uc002ijs.4_Intron|MAPT_uc002ijx.4_Intron|MAPT_uc021tyv.1_Intron|MAPT_uc002ijt.4_Intron|MAPT_uc021tyw.1_Intron|MAPT_uc002iju.4_Intron|MAPT_uc021tyx.1_Silent_p.I155I NM_016835 NP_058519 P10636 TAU_HUMAN Homo sapiens microtubule-associated protein tau (MAPT), transcript variant 1, mRNA. 307 cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex SH3 domain binding|apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|structural constituent of cytoskeleton breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 38 Melanoma(429;0.216) ACGTGGAAATCACACCCAACG 0.647000 26 17 0 0 1 0 0 LAMC3 10319 broad.mit.edu 37 9 133946923 133946923 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr9:133946923C>T uc004caa.1 + 17 3220 c.3122C>T c.(3121-3123)tCc>tTc p.S1041F NM_006059 NP_006050 Q9Y6N6 LAMC3_HUMAN Homo sapiens laminin, gamma 3 (LAMC3), mRNA. 1041 Domain II and I. cell adhesion basement membrane|membrane structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 69 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) CTCCAAGGGTCCGACTGTGGC 0.607000 46 28 0 0 1 0 0 FAM192A 80011 broad.mit.edu 37 16 57206772 57206772 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr16:57206772C>T uc021tiy.1 - 2 401 c.142G>A c.(142-144)Gtt>Att p.V48I FAM192A_uc021tiz.1_Missense_Mutation_p.V48I|FAM192A_uc021tja.1_Non-coding_Transcript NM_024946 NP_079222 Q9GZU8 F192A_HUMAN Homo sapiens family with sequence similarity 192, member A (FAM192A), mRNA. 48 nucleus endometrium(2)|large_intestine(3)|lung(4)|prostate(2) 11 GGGTCATAAACCTCCTCTGGA 0.428000 28 15 0 0 1 0 0 FABP2 2169 broad.mit.edu 37 4 120243228 120243228 + Silent SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr4:120243228G>A uc003icw.3 - 0 89 c.30C>T c.(28-30)gaC>gaT p.D10D NM_000134 NP_000125 P12104 FABPI_HUMAN Homo sapiens fatty acid binding protein 2, intestinal (FABP2), mRNA. 10 fatty acid binding breast(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1) 8 TTTCACTCCGGTCTACCTTCC 0.383000 28 33 0 0 1 0 0 TRPM5 29850 broad.mit.edu 37 11 2432922 2432922 + Silent SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr11:2432922G>A uc010qxl.2 - 16 2559 c.2550C>T c.(2548-2550)atC>atT p.I850I TRPM5_uc001lwm.4_Silent_p.I850I|TRPM5_uc009ydn.3_Silent_p.I852I NM_014555 NP_055370 Q9NZQ8 TRPM5_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA. 850 integral to membrane|plasma membrane receptor activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2) 23 Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311) BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191) CAAAGATATGGATCAGCCGCA 0.642000 14 34 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9083238 9083238 + Silent SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:9083238G>A uc002mkp.3 - 0 8781 c.8577C>T c.(8575-8577)ctC>ctT p.L2859L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 2859 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CAGGTGTTAGGAGGCCTGACT 0.527000 4 7 0 0 1 0 0 TP53BP1 7158 broad.mit.edu 37 15 43748789 43748789 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr15:43748789G>A uc001zrs.3 - 11 2150 c.2002C>T c.(2002-2004)Cct>Tct p.P668S TP53BP1_uc010udp.2_Missense_Mutation_p.P668S|TP53BP1_uc001zrq.4_Missense_Mutation_p.P673S|TP53BP1_uc001zrr.4_Missense_Mutation_p.P673S|TP53BP1_uc010udq.1_Missense_Mutation_p.P673S NM_005657 NP_005648 Q12888 TP53B_HUMAN Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA. 668 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) GGTGTCTCAGGGATTTCTTCC 0.458000 Other conserved DNA damage response genes 53 29 0 0 1 0 0 PZP 5858 broad.mit.edu 37 12 9310436 9310436 + Splice_Site SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr12:9310436C>T uc001qvl.3 - 27 3324 c.3295_splice c.e27-1 p.G1099_splice PZP_uc009zgl.3_Splice_Site_p.G885_splice NM_002864 NP_002855 Homo sapiens pregnancy-zone protein (PZP), mRNA. breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 TTCTACACCTCCCTGTGAATA 0.438000 6 5 0 0 1 0 0 PCDHB5 26167 broad.mit.edu 37 5 140516083 140516083 + Missense_Mutation SNP C A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr5:140516083C>A uc003liq.3 + 0 1284 c.1067C>A c.(1066-1068)cCa>cAa p.P356Q NM_015669 NP_056484 Q9Y5E4 PCDB5_HUMAN Homo sapiens protocadherin beta 5 (PCDHB5), mRNA. 356 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGCCCTACCCCAGAAAATGCC 0.527000 24 25 7.07758e-08 7.22938e-08 1 1 0 RIMKLA 284716 broad.mit.edu 37 1 42880551 42880551 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr1:42880551C>T uc001chi.2 + 4 1220 c.1082C>T c.(1081-1083)tCc>tTc p.S361F NM_173642 NP_775913 Q8IXN7 RIMKA_HUMAN Homo sapiens ribosomal modification protein rimK-like family member A (RIMKLA), mRNA. 361 protein modification process cytoplasm ATP binding|acid-amino acid ligase activity|metal ion binding NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 13 ATCCGGGATTCCTCAGCAAGC 0.512000 22 28 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141819654 141819654 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:141819654C>T uc002tvj.1 - 7 2174 c.1202G>A c.(1201-1203)gGa>gAa p.G401E LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 401 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.Q400I(2) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TCTATTTTTTCCTTGATAGTC 0.393000 TSP Lung(27;0.18) 46 35 0 0 1 0 0 PLD5 200150 broad.mit.edu 37 1 242287823 242287823 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr1:242287823C>T uc001hzn.2 - 6 1107 c.880G>A c.(880-882)Gaa>Aaa p.E294K PLD5_uc021pll.1_Missense_Mutation_p.E202K|PLD5_uc001hzl.4_Missense_Mutation_p.E232K|PLD5_uc001hzm.4_Missense_Mutation_p.E86K|PLD5_uc001hzo.2_Missense_Mutation_p.E202K NM_152666 NP_001182741 Q8N7P1 PLD5_HUMAN Homo sapiens phospholipase D family, member 5 (PLD5), transcript variant 1, mRNA. 294 integral to membrane catalytic activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1) 55 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) AATTTCTTTTCATTGTCATAG 0.378000 20 17 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 137814028 137814028 + Nonsense_Mutation SNP G T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:137814028G>T uc002tva.1 + 1 85 c.85G>T c.(85-87)Gga>Tga p.G29* THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_5'UTR NM_001080427 NP_001073896 Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA. NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) TGGTCCCGGAGGAGTCCAGAG 0.493000 22 13 3.45872e-05 3.51406e-05 1 1 0 CACNA1E 777 broad.mit.edu 37 1 181690896 181690896 + Silent SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr1:181690896C>T uc009wxt.3 + 15 2154 c.1959C>T c.(1957-1959)atC>atT p.I653I CACNA1E_uc001gow.3_Silent_p.I653I|CACNA1E_uc009wxs.3_Silent_p.I653I NM_001205293 NP_001192222 Q15878 CAC1E_HUMAN Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA. 653 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 TTTTGTAGATCCTGACGGGTG 0.532000 35 30 0 0 1 0 0 SLC2A9 56606 broad.mit.edu 37 4 9892309 9892309 + Silent SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr4:9892309C>T uc003gmc.3 - 8 1201 c.1140G>A c.(1138-1140)cgG>cgA p.R380R SLC2A9_uc003gmd.3_Silent_p.R351R NM_020041 NP_064425 Q9NRM0 GTR9_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 9 (SLC2A9), transcript variant 1, mRNA. 380 glucose transport|urate metabolic process integral to membrane|plasma membrane sugar:hydrogen symporter activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1) 35 GGAGGGGTCTCCGTCCCAGGT 0.522000 4 9 0 0 1 0 0 SH3RF3 344558 broad.mit.edu 37 2 109964176 109964176 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:109964176G>A uc010ywt.1 + 1 620 c.620G>A c.(619-621)gGg>gAg p.G207E NM_001099289 NP_001092759 Q8TEJ3 SH3R3_HUMAN Homo sapiens SH3 domain containing ring finger 3 (SH3RF3), mRNA. 207 SH3 1. zinc ion binding endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2) 18 AGCTACGAGGGGAAGGAACCT 0.597000 11 8 0 0 1 0 0 DNAJC10 54431 broad.mit.edu 37 2 183622485 183622485 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:183622485G>A uc002uow.1 + 18 2291 c.1876G>A c.(1876-1878)Gaa>Aaa p.E626K DNAJC10_uc002uox.1_Non-coding_Transcript|DNAJC10_uc002uoy.1_Non-coding_Transcript|DNAJC10_uc002uoz.1_Missense_Mutation_p.E580K|DNAJC10_uc010fro.1_Non-coding_Transcript NM_018981 NP_061854 Q8IXB1 DJC10_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 10 (DNAJC10), mRNA. 626 Thioredoxin 3. ER-associated protein catabolic process|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding p.Q625Q(1) breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) TTGTGCCCAGGAAAACGTTCA 0.333000 28 18 0 0 1 0 0 C17orf47 284083 broad.mit.edu 37 17 56620078 56620078 + Silent SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr17:56620078C>T uc002iwq.2 - 0 1656 c.1470G>A c.(1468-1470)gaG>gaA p.E490E SEPT4_uc010wny.2_5'Flank|SEPT4_uc010wnx.2_5'Flank NM_001038704 NP_001033793 Q8NEP4 CQ047_HUMAN Homo sapiens chromosome 17 open reading frame 47 (C17orf47), mRNA. 490 NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 24 Medulloblastoma(34;0.127)|all_neural(34;0.237) AACTTGGAAACTCCTTTGGTG 0.468000 160 113 0 0 1 0 0 IGFN1 91156 broad.mit.edu 37 1 201186515 201186515 + Silent SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr1:201186515C>T uc001gwc.3 + 16 9826 c.9696C>T c.(9694-9696)atC>atT p.I3232I IGFN1_uc001gwb.3_Non-coding_Transcript NM_001164586 NP_001158058 Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA. autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 GCGCCCACATCCTGGGCTACC 0.657000 40 27 0 0 1 0 0 USP19 10869 broad.mit.edu 37 3 49147649 49147649 + Silent SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr3:49147649G>A uc003cwd.2 - 24 4016 c.3697C>T c.(3697-3699)Cta>Tta p.L1233L USP19_uc003cwa.3_Silent_p.L1041L|USP19_uc003cwb.3_3'UTR|USP19_uc003cvz.4_Silent_p.L1336L|USP19_uc011bcg.2_Silent_p.L1324L|USP19_uc003cwc.2_Silent_p.L991L|USP19_uc011bch.2_Silent_p.L1334L NM_006677 NP_006668 O94966 UBP19_HUMAN Homo sapiens ubiquitin specific peptidase 19 (USP19), transcript variant 4, mRNA. 1233 ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy endoplasmic reticulum membrane|integral to membrane ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) GCAGGGCCTAGGTCTGGGTGG 0.622000 10 37 0 0 1 0 0 OLFML2B 25903 broad.mit.edu 37 1 161967678 161967678 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr1:161967678C>T uc010pkq.2 - 5 1838 c.1414G>A c.(1414-1416)Gga>Aga p.G472R OLFML2B_uc001gbu.3_Missense_Mutation_p.G471R NM_015441 NP_056256 Q68BL8 OLM2B_HUMAN Homo sapiens olfactomedin-like 2B (OLFML2B), mRNA. 471 breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) GGGGTTGTTCCCCACCCAGCA 0.567000 115 61 0 0 1 0 0 ABCC6 368 broad.mit.edu 37 16 16263525 16263525 + Silent SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr16:16263525G>A uc002den.4 - 21 3010 c.2973C>T c.(2971-2973)ttC>ttT p.F991F ABCC6_uc010bvo.3_Non-coding_Transcript NM_001171 NP_001162 O95255 MRP6_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA. 991 ABC transmembrane type-1 2. response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) CGAGGAGCCCGAAGATCCCGC 0.667000 5 6 0 0 1 0 0 ARF5 381 broad.mit.edu 37 7 127228564 127228564 + Silent SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr7:127228564C>T uc003vmb.2 + 0 159 c.12C>T c.(10-12)acC>acT p.T4T GCC1_uc003vma.3_5'Flank|ARF5_uc010llb.2_Silent_p.T4T|FSCN3_uc003vmc.1_5'Flank NM_001662 NP_001653 P84085 ARF5_HUMAN Homo sapiens ADP-ribosylation factor 5 (ARF5), mRNA. 4 protein transport|small GTPase mediated signal transduction|vesicle-mediated transport Golgi apparatus|perinuclear region of cytoplasm GTP binding|GTPase activity|protein binding cervix(2)|kidney(1)|lung(10)|ovary(1) 14 TGGGCCTCACCGTGTCCGCGC 0.756000 8 6 0 0 1 0 0 HCAR2 338442 broad.mit.edu 37 12 123187584 123187584 + Silent SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr12:123187584G>A uc001ucx.1 - 0 321 c.247C>T c.(247-249)Ctg>Ttg p.L83L HCAR1_uc001ucw.1_Intron NM_177551 NP_808219 Q8TDS4 HCAR2_HUMAN Homo sapiens hydroxycarboxylic acid receptor 2 (HCAR2), mRNA. 83 negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis integral to membrane|plasma membrane nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 15 Mepenzolate(DB04843)|Niacin(DB00627) TTGTCCATCAGGAAGGGCAGG 0.522000 33 16 0 0 1 0 0 CCL8 6355 broad.mit.edu 37 17 32647341 32647341 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr17:32647341C>T uc002hib.3 + 1 585 c.130C>T c.(130-132)Cct>Tct p.P44S NM_005623 NP_005614 P80075 CCL8_HUMAN Homo sapiens chemokine (C-C motif) ligand 8 (CCL8), mRNA. 44 calcium ion transport|cell-cell signaling|chemotaxis|exocytosis|immune response|inflammatory response|response to virus extracellular space chemokine activity|heparin binding|signal transducer activity NS(1)|endometrium(1)|large_intestine(1)|lung(1) 4 Ovarian(249;0.0443)|Breast(31;0.151) TAGGAAAATTCCTATCCAGAG 0.443000 27 12 0 0 1 0 0 CYP4F12 66002 broad.mit.edu 37 19 15793319 15793319 + Splice_Site SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:15793319G>A uc002nbl.3 + 6 766 c.647_splice c.e6+1 p.E216_splice NM_023944 NP_076433 Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA. NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) CCATTGTCAGGAGTGAGTTCC 0.498000 31 26 0 0 1 0 0 SLC12A6 9990 broad.mit.edu 37 15 34628623 34628623 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr15:34628623C>T uc001zhw.3 - 0 423 c.259G>A c.(259-261)Gat>Aat p.D87N SLC12A6_uc001zhz.3_Non-coding_Transcript|SLC12A6_uc001zhx.3_Missense_Mutation_p.D87N|SLC12A6_uc001zhy.3_Non-coding_Transcript|SLC12A6_uc001zia.3_Missense_Mutation_p.D28N|SLC12A6_uc001zib.3_Missense_Mutation_p.D78N|SLC12A6_uc001zic.3_Missense_Mutation_p.D87N|SLC12A6_uc010bau.3_Missense_Mutation_p.D87N|SLC12A6_uc001zid.3_Missense_Mutation_p.D28N NM_133647 NP_598408 Q9UHW9 S12A6_HUMAN Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 6 (SLC12A6), transcript variant 1, mRNA. 87 angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity p.E86Q(1)|p.E87K(1) central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3) 45 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) TCGATGACATCCTGGGGGTGA 0.498000 13 12 0 0 1 0 0 FUT2 2524 broad.mit.edu 37 19 49206277 49206277 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:49206277G>A uc002pke.4 + 1 175 c.64G>A c.(64-66)Gtt>Att p.V22I FUT2_uc010emc.3_Missense_Mutation_p.V22I|FUT2_uc021uwx.1_Missense_Mutation_p.V22I NM_001097638 NP_001091107 Q10981 FUT2_HUMAN Homo sapiens fucosyltransferase 2 (secretor status included) (FUT2), transcript variant 2, mRNA. 22 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane galactoside 2-alpha-L-fucosyltransferase activity breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2) 7 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017) TGTCTTTACGGTTTCCACTAT 0.517000 98 52 0 0 1 0 0 RBMS2 5939 broad.mit.edu 37 12 56965488 56965488 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr12:56965488G>A uc001sln.2 + 4 590 c.391G>A c.(391-393)Gaa>Aaa p.E131K RBMS2_uc010sqp.1_Intron|RBMS2_uc010sqq.1_Missense_Mutation_p.E6K|RBMS2_uc009zou.2_5'UTR NM_002898 NP_002889 Q15434 RBMS2_HUMAN Homo sapiens RNA binding motif, single stranded interacting protein 2 (RBMS2), mRNA. 131 RNA processing nucleus RNA binding|nucleotide binding breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1) 18 ACAGCAACAGGAACAGGACCC 0.483000 20 24 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56515402 56515402 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:56515402G>A uc002qmj.3 + 1 383 c.383G>A c.(382-384)aGc>aAc p.S128N NLRP5_uc002qmi.3_Missense_Mutation_p.S128N NM_153447 NP_703148 P59047 NALP5_HUMAN Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA. 128 DAPIN. mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) ACGTCCATTAGCATCTTTGAA 0.507000 30 15 0 0 1 0 0 TLL1 7092 broad.mit.edu 37 4 167020590 167020590 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr4:167020590G>A uc003irh.2 + 19 3465 c.2818G>A c.(2818-2820)Gaa>Aaa p.E940K TLL1_uc011cjn.2_Missense_Mutation_p.E963K|TLL1_uc011cjo.2_Missense_Mutation_p.E764K NM_012464 NP_036596 O43897 TLL1_HUMAN Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA. 940 CUB 5. cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding p.E939Q(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) TGAAGTGGAGGAAGAAGCAGA 0.468000 31 41 0 0 1 0 0 C2orf18 54978 broad.mit.edu 37 2 26998033 26998033 + Missense_Mutation SNP T A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:26998033T>A uc002rhp.1 + 2 348 c.272T>A c.(271-273)tTc>tAc p.F91Y C2orf18_uc002rhq.1_Intron|C2orf18_uc010eyo.1_Missense_Mutation_p.F38Y|C2orf18_uc010ylc.1_Intron NM_017877 NP_060347 Q8N357 CB018_HUMAN Homo sapiens chromosome 2 open reading frame 18 (C2orf18), mRNA. 91 integral to membrane|lysosomal membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(2) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCTCTTCTTTTCCTGCCCCCA 0.592000 32 27 0 0 1 0 0 OR10H2 26538 broad.mit.edu 37 19 15839084 15839084 + Silent SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:15839084C>T uc002nbm.2 + 0 251 c.231C>T c.(229-231)atC>atT p.I77I NM_013939 NP_039227 O60403 O10H2_HUMAN Homo sapiens olfactory receptor, family 10, subfamily H, member 2 (OR10H2), mRNA. 77 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1) 27 all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074) CCGTGGCCATCATCCCGCGCA 0.622000 36 20 0 0 1 0 0 SLC52A3 113278 broad.mit.edu 37 20 742420 742420 + Silent SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr20:742420C>T uc002wed.4 - 3 1461 c.1122G>A c.(1120-1122)ggG>ggA p.G374G SLC52A3_uc002wee.2_Silent_p.G374G NM_033409 NP_212134 Q9NQ40 RFT2_HUMAN Homo sapiens chromosome 20 open reading frame 54 (C20orf54), mRNA. 374 sensory perception of sound integral to plasma membrane riboflavin transporter activity TGTTGTAGCCCCCAAAGCAGG 0.632000 22 10 0 0 1 0 0 PMFBP1 83449 broad.mit.edu 37 16 72170599 72170599 + Silent SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr16:72170599G>A uc002fcc.4 - 7 1210 c.1038C>T c.(1036-1038)atC>atT p.I346I PMFBP1_uc002fcd.3_Silent_p.I346I|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Silent_p.I201I NM_031293 NP_112583 Q8TBY8 PMFBP_HUMAN Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA. 346 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) TACCCTTCATGATGTTTCTCT 0.562000 18 11 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152187594 152187594 + Missense_Mutation SNP C G G TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr1:152187594C>G uc001ezt.1 - 2 6587 c.6511G>C c.(6511-6513)Ggc>Cgc p.G2171R NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN Homo sapiens hornerin (HRNR), mRNA. 2171 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CGGCCGTGGCCCGAAGACTGA 0.627000 696 34 0 0 1 0 0 KIAA1217 56243 broad.mit.edu 37 10 24817049 24817049 + Splice_Site SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr10:24817049G>A uc001iru.4 + 14 3485 c.3082_splice c.e14+1 p.E1028_splice KIAA1217_uc001irs.3_Splice_Site_p.E948_splice|KIAA1217_uc001irt.4_Splice_Site_p.E993_splice|KIAA1217_uc010qcy.2_Splice_Site_p.D993_splice|KIAA1217_uc010qcz.2_Splice_Site_p.E993_splice|KIAA1217_uc010qda.1_Splice_Site|KIAA1217_uc001irw.3_Splice_Site_p.E711_splice|KIAA1217_uc001irz.3_Splice_Site_p.E711_splice|KIAA1217_uc001irx.3_Splice_Site_p.E711_splice|KIAA1217_uc001iry.3_Splice_Site_p.E711_splice NM_019590 NP_062536 Q5T5P2 SKT_HUMAN Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA. 1028 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 GAACTTTCAGGTAAGTTCCGG 0.512000 31 3 0 0 1 0 0 KCNH5 27133 broad.mit.edu 37 14 63174784 63174784 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr14:63174784C>T uc001xfx.3 - 10 2460 c.2409G>A c.(2407-2409)atG>atA p.M803I KCNH5_uc001xfy.3_3'UTR NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA. 803 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) TTCCATTCTTCATTCTTATTG 0.453000 47 26 0 0 1 0 0 ATP1A3 478 broad.mit.edu 37 19 42490372 42490372 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:42490372C>T uc002osh.3 - 4 521 c.367G>A c.(367-369)Ggc>Agc p.G123S ATP1A3_uc010xwf.2_Missense_Mutation_p.G134S|ATP1A3_uc010xwg.2_Missense_Mutation_p.G93S|ATP1A3_uc002osg.3_Missense_Mutation_p.G123S|ATP1A3_uc010xwh.2_Missense_Mutation_p.G136S P13637 AT1A3_HUMAN Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA. 123 ATP biosynthetic process Golgi apparatus|endoplasmic reticulum ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 52 AGCACGATGCCCAGGTACAGC 0.597000 29 12 0 0 1 0 0 SEC24B 10427 broad.mit.edu 37 4 110415963 110415963 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr4:110415963G>A uc003hzk.3 + 5 1494 c.1439G>A c.(1438-1440)gGa>gAa p.G480E SEC24B_uc003hzl.3_Missense_Mutation_p.G445E|SEC24B_uc011cfp.2_Missense_Mutation_p.G511E|SEC24B_uc011cfq.2_Missense_Mutation_p.G480E|SEC24B_uc011cfr.2_Missense_Mutation_p.G445E NM_006323 NP_006314 O95487 SC24B_HUMAN Homo sapiens SEC24 family, member B (S. cerevisiae) (SEC24B), transcript variant 1, mRNA. 480 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm protein binding|transporter activity|zinc ion binding breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.03e-05) CTTATTTCTGGAGTACAGCCC 0.418000 14 30 0 0 1 0 0 OR10A4 283297 broad.mit.edu 37 11 6898580 6898580 + Silent SNP G C C TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr11:6898580G>C uc010rat.2 + 0 725 c.702G>C c.(700-702)ggG>ggC p.G234G NM_207186 NP_997069 Q9H209 O10A4_HUMAN Homo sapiens olfactory receptor, family 10, subfamily A, member 4 (OR10A4), mRNA. 234 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 31 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CAGCTGAGGGGAAACATCAGG 0.517000 14 24 0 0 1 0 0 PKD1L1 168507 broad.mit.edu 37 7 47847973 47847973 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr7:47847973C>T uc003tny.2 - 51 7733 c.7699G>A c.(7699-7701)Gga>Aga p.G2567R C7orf69_uc003tnz.4_Intron|C7orf69_uc003toa.1_Intron NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA. 2567 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 AGGCTCACTCCAACCACGGAG 0.517000 20 9 0 0 1 0 0 KIAA0907 22889 broad.mit.edu 37 1 155883916 155883916 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr1:155883916G>A uc001fmi.1 - 13 1865 c.1841C>T c.(1840-1842)cCc>cTc p.P614L RIT1_uc001fmh.1_5'Flank|RIT1_uc010pgr.1_5'Flank|KIAA0907_uc001fmj.1_3'UTR NM_014949 NP_055764 Q7Z7F0 K0907_HUMAN Homo sapiens KIAA0907 (KIAA0907), mRNA. 614 breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) TGTTTCCTAGGGAGCCATCCA 0.448000 25 13 0 0 1 0 0 ABCC11 85320 broad.mit.edu 37 16 48250034 48250034 + Silent SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr16:48250034G>A uc002eff.1 - 5 1292 c.942C>T c.(940-942)ttC>ttT p.F314F ABCC11_uc002efg.1_Silent_p.F314F|ABCC11_uc002efh.1_Silent_p.F314F|ABCC11_uc010vgk.1_5'Flank|ABCC11_uc010vgl.1_Silent_p.F314F NM_033151 NP_149163 Q96J66 ABCCB_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA. 314 ABC transmembrane type-1 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) CCGCCAGTGGGAAAACCAGGA 0.473000 65 31 0 0 1 0 0 ZFPM2 23414 broad.mit.edu 37 8 106814408 106814408 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr8:106814408G>A uc003ymd.3 + 7 2121 c.2098G>A c.(2098-2100)Gaa>Aaa p.E700K ZFPM2_uc011lhs.2_Missense_Mutation_p.E431K NM_012082 NP_036214 Q8WW38 FOG2_HUMAN Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA. 700 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) CAGCCGGCACGAAACATACAT 0.488000 15 9 0 0 1 0 0 NLRP4 147945 broad.mit.edu 37 19 56369655 56369655 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:56369655C>T uc002qmd.4 + 2 1318 c.896C>T c.(895-897)cCc>cTc p.P299L NLRP4_uc002qmf.3_Missense_Mutation_p.P224L|NLRP4_uc010etf.3_Missense_Mutation_p.P130L NM_134444 NP_604393 Q96MN2 NALP4_HUMAN Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA. 299 NACHT. ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) ATCTACCAGCCCCGGGGATTC 0.507000 32 19 0 0 1 0 0 RTEL1 51750 broad.mit.edu 37 20 62324500 62324500 + Silent SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr20:62324500C>T uc021wge.1 + 28 3026 c.2856C>T c.(2854-2856)ttC>ttT p.F952F RTEL1_uc011abc.2_Non-coding_Transcript|RTEL1_uc002yfu.2_Silent_p.F952F|RTEL1_uc011abd.2_Silent_p.F976F|RTEL1_uc002yfw.3_Non-coding_Transcript|RTEL1_uc011abe.1_Silent_p.F729F|RTEL1_uc002yfx.1_Silent_p.F197F|TNFRSF6B_uc002yfy.3_5'Flank|TNFRSF6B_uc002yfz.3_5'Flank NM_016434 NP_057518 Q9NZ71 RTEL1_HUMAN Homo sapiens regulator of telomere elongation helicase 1 (RTEL1), transcript variant 1, mRNA. 952 DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13) Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107) CTACAGGCTTCTACCAGTTTG 0.602000 58 44 0 0 1 0 0 VPREB1 7441 broad.mit.edu 37 22 22599596 22599596 + Silent SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr22:22599596G>A uc002zvx.1 + 1 311 c.285G>A c.(283-285)agG>agA p.R95R abParts_uc021wml.1_Intron NM_007128 NP_009059 P12018 VPREB_HUMAN Homo sapiens pre-B lymphocyte 1 (VPREB1), mRNA. 95 Framework-3.|Ig-like V-type. immune response extracellular region antigen binding|protein binding p.A94P(2) large_intestine(1)|liver(1)|lung(6)|skin(1) 9 all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155) all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52) READ - Rectum adenocarcinoma(21;0.145) ATGTGGCCAGGAACAGGGGGT 0.582000 25 20 0 0 1 0 0 TRIM42 287015 broad.mit.edu 37 3 140419753 140419753 + Silent SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr3:140419753G>A uc003eto.2 + 4 2315 c.2109G>A c.(2107-2109)ggG>ggA p.G703G NM_152616 NP_689829 Q8IWZ5 TRI42_HUMAN Homo sapiens tripartite motif containing 42 (TRIM42), mRNA. 703 intracellular zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 ATGGACATGGGAAGAACCGAG 0.532000 21 15 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72984673 72984673 + Silent SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr16:72984673G>A uc002fck.3 - 2 3584 c.2911C>T c.(2911-2913)Ctg>Ttg p.L971L ZFHX3_uc002fcl.3_Silent_p.L57L NM_006885 NP_008816 Q15911 ZFHX3_HUMAN Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA. 971 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) TCCTCCGACAGGCTGCGCTCC 0.602000 18 8 0 0 1 0 0 TIMM44 10469 broad.mit.edu 37 19 7998826 7998826 + Silent SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:7998826C>T uc002miz.3 - 5 778 c.606G>A c.(604-606)cgG>cgA p.R202R TIMM44_uc010dvx.2_Non-coding_Transcript NM_006351 NP_006342 O43615 TIM44_HUMAN Homo sapiens translocase of inner mitochondrial membrane 44 homolog (yeast) (TIMM44), nuclear gene encoding mitochondrial protein, mRNA. 202 protein targeting to mitochondrion mitochondrial inner membrane presequence translocase complex|mitochondrial matrix ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity p.R202Q(1) NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1) 17 GCTGGGGCCTCCGGTAGGGCC 0.622000 30 20 0 0 1 0 0 CCIN 881 broad.mit.edu 37 9 36169648 36169648 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr9:36169648C>T uc003zzb.4 + 0 260 c.149C>T c.(148-150)tCc>tTc p.S50F NM_005893 NP_005884 Q13939 CALI_HUMAN Homo sapiens calicin (CCIN), mRNA. 50 BTB. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4) 21 STAD - Stomach adenocarcinoma(86;0.228) GCTGCTGTCTCCCCACTGGTG 0.532000 10 19 0 0 1 0 0 DPYSL5 56896 broad.mit.edu 37 2 27169838 27169838 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:27169838G>A uc002rhu.4 + 12 1828 c.1670G>A c.(1669-1671)gGa>gAa p.G557E DPYSL5_uc002rhv.4_Missense_Mutation_p.G557E|DPYSL5_uc021vev.1_Missense_Mutation_p.G557E NM_020134 NP_064519 Q9BPU6 DPYL5_HUMAN Homo sapiens dihydropyrimidinase-like 5 (DPYSL5), transcript variant 1, mRNA. 557 axon guidance|pyrimidine base catabolic process|signal transduction cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCTCCTCCCGGAGGCAGGTCG 0.627000 10 11 0 0 1 0 0 BTN3A1 11119 broad.mit.edu 37 6 26413719 26413719 + Silent SNP C A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr6:26413719C>A uc003nhv.3 + 9 1709 c.1341C>A c.(1339-1341)ccC>ccA p.P447P BTN3A1_uc011dkj.2_3'UTR|BTN3A1_uc010jqj.3_3'UTR|BTN3A1_uc011dkk.2_Silent_p.P395P NM_007048 NP_008979 O00481 BT3A1_HUMAN Homo sapiens butyrophilin, subfamily 3, member A1 (BTN3A1), transcript variant 1, mRNA. 447 B30.2/SPRY. lipid metabolic process integral to membrane breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 TAACTGAGCCCAGAACCAACC 0.478000 68 27 7.92952e-12 8.18739e-12 1 1 0 CFTR 1080 broad.mit.edu 37 7 117175335 117175335 + Missense_Mutation SNP C T T rs121908803 TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr7:117175335C>T uc003vjd.3 + 5 745 c.613C>T c.(613-615)Cct>Tct p.P205S CFTR_uc011knq.2_5'UTR NM_000492 NP_000483 P13569 CFTR_HUMAN Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA. 205 ABC transmembrane type-1 1. P -> S (in CF). respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding p.P205S(2) NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) GTGGATCGCTCCTTTGCAAGT 0.473000 Cystic Fibrosis 72 48 0 0 1 0 0 HEATR7B2 133558 broad.mit.edu 37 5 41054925 41054925 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr5:41054925G>A uc003jmj.4 - 10 1541 c.1051C>T c.(1051-1053)Cac>Tac p.H351Y HEATR7B2_uc003jmi.4_Intron NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA. 351 binding breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4) 133 GAAATGATGTGATCCCTCAAC 0.373000 6 13 0 0 1 0 0 NSMAF 8439 broad.mit.edu 37 8 59514003 59514003 + Splice_Site SNP C G G TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr8:59514003C>G uc011lee.2 - 15 1370 c.1309_splice c.e15+1 p.A437_splice NSMAF_uc003xtt.3_Splice_Site_p.A406_splice NM_001144772 NP_001138244 Q92636 FAN_HUMAN Homo sapiens neutral sphingomyelinase (N-SMase) activation associated factor (NSMAF), transcript variant 2, mRNA. 406 BEACH. ceramide metabolic process cytoplasm|soluble fraction protein binding|receptor signaling protein activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 38 all_lung(136;0.174)|Lung NSC(129;0.2) AAGAATCTTACCAATCCTAAC 0.388000 19 13 0 0 1 0 0 DHX36 170506 broad.mit.edu 37 3 153994657 153994658 + Missense_Mutation DNP GG AA AA TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr3:153994657_153994658GG>AA uc003ezy.4 - 23 2800_2801 c.2719_2720CC>TT c.(2719-2721)cca>TTa p.P907L DHX36_uc010hvq.3_Missense_Mutation_p.P893L|DHX36_uc003ezz.4_Missense_Mutation_p.P878L NM_020865 NP_065916 Q9H2U1 DHX36_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 36 (DHX36), transcript variant 1, mRNA. 907 cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 35 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) GAGACAGTATGGGGAAACCTCT 0.347000 21 7 0 0 1 0 0 ANKRD44 91526 broad.mit.edu 37 2 197866501 197866501 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:197866501G>A uc021vuj.1 - 21 2604 c.2411C>T c.(2410-2412)cCc>cTc p.P804L ANKRD44_uc002utz.4_Missense_Mutation_p.P511L|ANKRD44_uc021vuk.1_Missense_Mutation_p.P779L NM_001195144 NP_001182073 Q8N8A2 ANR44_HUMAN Homo sapiens ankyrin repeat domain 44 (ANKRD44), transcript variant A, mRNA. 804 protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.246) TGGAGTAAAGGGATTACCGAT 0.338000 32 16 0 0 1 0 0 RND1 27289 broad.mit.edu 37 12 49251968 49251968 + Silent SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr12:49251968G>A uc001rsn.3 - 4 613 c.510C>T c.(508-510)ttC>ttT p.F170F NM_014470 NP_055285 Q92730 RND1_HUMAN Homo sapiens Rho family GTPase 1 (RND1), mRNA. 170 actin filament organization|axon guidance|negative regulation of cell adhesion|neuron remodeling|small GTPase mediated signal transduction adherens junction|cytoskeleton|cytosol GTP binding|GTPase activity|receptor binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1) 10 TTTCTGAGGTGAAAGCTGAGC 0.552000 38 19 0 0 1 0 0 ZNF257 113835 broad.mit.edu 37 19 22255619 22255619 + Silent SNP G C C TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:22255619G>C uc010ecx.3 + 1 181 c.12G>C c.(10-12)ctG>ctC p.L4L ZNF257_uc010ecy.3_5'UTR NM_033468 NP_258429 Q9Y2Q1 ZN257_HUMAN Homo sapiens zinc finger protein 257 (ZNF257), mRNA. 4 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|lung(4) 6 all_lung(12;0.0961)|Lung NSC(12;0.103) AGGGACCACTGACAATTAGGG 0.408000 51 32 0 0 1 0 0 SLC10A2 6555 broad.mit.edu 37 13 103718289 103718289 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr13:103718289C>T uc001vpy.4 - 0 908 c.311G>A c.(310-312)gGa>gAa p.G104E NM_000452 NP_000443 Q12908 NTCP2_HUMAN Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 2 (SLC10A2), mRNA. 104 bile acid metabolic process|organic anion transport integral to plasma membrane bile acid:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) AGGGCAGCATCCTATAATGAG 0.517000 38 33 0 0 1 0 0 SPRR4 163778 broad.mit.edu 37 1 152944394 152944394 + Missense_Mutation SNP C G G TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr1:152944394C>G uc001fav.1 + 1 91 c.28C>G c.(28-30)Cag>Gag p.Q10E SPRR4_uc021ozm.1_Missense_Mutation_p.Q10E NM_173080 NP_775103 Q96PI1 SPRR4_HUMAN Homo sapiens small proline-rich protein 4 (SPRR4), mRNA. 10 Gln-rich. keratinization|peptide cross-linking cell cortex lung(1)|prostate(1) 2 Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) gcagcggcagcagcagcagTG 0.552000 47 27 0 0 1 0 0 POM121L12 285877 broad.mit.edu 37 7 53103978 53103978 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr7:53103978G>A uc003tpz.3 + 0 630 c.614G>A c.(613-615)gGt>gAt p.G205D NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA. 205 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 GACAGCAAGGGTGGCAGGCGG 0.667000 45 30 0 0 1 0 0 TREM1 54210 broad.mit.edu 37 6 41250182 41250182 + Silent SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr6:41250182G>A uc003oqf.2 - 1 421 c.357C>T c.(355-357)ccC>ccT p.P119P TREM1_uc003oqg.2_Silent_p.P119P|TREM1_uc021yzj.1_Silent_p.P119P NM_018643 NP_061113 Q9NP99 TREM1_HUMAN Homo sapiens triggering receptor expressed on myeloid cells 1 (TREM1), transcript variant 1, mRNA. 119 Ig-like V-type. blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration extracellular region|integral to membrane|intracellular|plasma membrane receptor activity p.P118H(1) NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1) 16 Ovarian(28;0.0327)|Colorectal(47;0.196) Glutathione(DB00143) GAGGCTCCTTGGGAGGCTGGT 0.542000 28 12 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55533563 55533563 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr8:55533563C>T uc003xsd.1 + 1 185 c.37C>T c.(37-39)Cat>Tat p.H13Y RP1_uc011ldy.1_Missense_Mutation_p.H13Y NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 13 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TTCCATCATTCATCCTACGTC 0.463000 51 37 0 0 1 0 0 ANKS1B 56899 broad.mit.edu 37 12 99640534 99640534 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr12:99640534G>A uc001tge.2 - 12 2282 c.1865C>T c.(1864-1866)cCa>cTa p.P622L ANKS1B_uc001tgf.2_Missense_Mutation_p.P202L|ANKS1B_uc001tgk.3_5'UTR|ANKS1B_uc009ztt.1_Missense_Mutation_p.P588L NM_152788 NP_690001 Q7Z6G8 ANS1B_HUMAN Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA. 622 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) GAGATGAAATGGATTTTCAGG 0.448000 69 42 0 0 1 0 0 NME7 29922 broad.mit.edu 37 1 169102023 169102023 + Nonstop_Mutation SNP C A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr1:169102023C>A uc001gfu.3 - 11 1369 c.1131G>T c.(1129-1131)taG>taT p.*377Y NME7_uc001gft.3_Nonstop_Mutation_p.*341Y|NME7_uc010plq.2_Non-coding_Transcript NM_013330 NP_932076 Q9Y5B8 NDK7_HUMAN Homo sapiens non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase) (NME7), transcript variant 1, mRNA. 0 CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process centrosome ATP binding|metal ion binding|nucleoside diphosphate kinase activity central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1) 16 all_hematologic(923;0.208) TTCCACACCACTAATTATCCA 0.363000 25 12 1.52009e-12 1.57379e-12 1 1 0 SEPT3 55964 broad.mit.edu 37 22 42388763 42388763 + Silent SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr22:42388763C>T uc003bbr.4 + 7 999 c.861C>T c.(859-861)atC>atT p.I287I SEPT3_uc003bbs.4_Silent_p.I287I|SEPT3_uc011apj.2_Silent_p.I223I|SEPT3_uc010gys.3_Silent_p.I67I NM_145733 NP_663786 Q9UH03 SEPT3_HUMAN Homo sapiens septin 3 (SEPT3), transcript variant A, mRNA. 287 cell cycle|cytokinesis cell junction|septin complex GTP binding breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 17 GGGGGATCATCGAAGGTAATT 0.483000 2 5 0 0 1 0 0 SALL4 57167 broad.mit.edu 37 20 50400980 50400980 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr20:50400980G>A uc002xwh.4 - 3 3087 c.2986C>T c.(2986-2988)Cct>Tct p.P996S SALL4_uc010gii.3_Missense_Mutation_p.P559S|SALL4_uc002xwi.4_Missense_Mutation_p.P219S NM_020436 NP_065169 Q9UJQ4 SALL4_HUMAN Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA. 996 transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GGGAGGGTAGGAACCCCCCCA 0.557000 30 17 0 0 1 0 0 AGFG2 3268 broad.mit.edu 37 7 100153353 100153353 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr7:100153353C>T uc003uvf.3 + 5 1008 c.872C>T c.(871-873)cCt>cTt p.P291L AGFG2_uc003uvg.1_3'UTR NM_006076 NP_006067 O95081 AGFG2_HUMAN Homo sapiens ArfGAP with FG repeats 2 (AGFG2), mRNA. 291 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 CAGCCAACTCCTGCAGGTAAA 0.507000 44 30 0 0 1 0 0 NLRP1 22861 broad.mit.edu 37 17 5436188 5436188 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr17:5436188C>T uc002gci.3 - 10 3805 c.3250G>A c.(3250-3252)Ggg>Agg p.G1084R NLRP1_uc002gcg.1_Missense_Mutation_p.G1088R|NLRP1_uc002gch.4_Missense_Mutation_p.G1084R|NLRP1_uc002gck.3_Missense_Mutation_p.G1084R|NLRP1_uc002gcj.3_Missense_Mutation_p.G1054R|NLRP1_uc002gcl.3_Missense_Mutation_p.G1054R|NLRP1_uc010clh.3_Missense_Mutation_p.G1084R NM_033004 NP_127497 Q9C000 NALP1_HUMAN Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA. 1084 defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide NALP1 inflammasome complex|cytoplasm|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Colorectal(1115;3.48e-05) GCCACAGGCCCCGTGGGGCCC 0.607000 18 10 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 185976290 185976290 + Silent SNP A G G TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr1:185976290A>G uc001grq.1 + 29 4735 c.4506A>G c.(4504-4506)gaA>gaG p.E1502E NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN Homo sapiens hemicentin 1 (HMCN1), mRNA. 1502 Ig-like C2-type 12. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 CTAATGTTGAACTTCTAGACA 0.368000 49 21 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6061031 6061031 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr12:6061031G>A uc001qnn.1 - 49 8384 c.8134C>T c.(8134-8136)Cca>Tca p.P2712S VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN Homo sapiens von Willebrand factor (VWF), mRNA. 2712 blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) CAGGTGCCTGGAATTTTCATA 0.443000 44 14 0 0 1 0 0 MS4A15 219995 broad.mit.edu 37 11 60531279 60531280 + Missense_Mutation DNP CC TT TT TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr11:60531279_60531280CC>TT uc009ynf.1 + 1 293_294 c.73_74CC>TT c.(73-75)cct>TTt p.P25F MS4A15_uc001npx.2_Intron|MS4A15_uc001npy.2_Non-coding_Transcript|MS4A15_uc009yng.1_Missense_Mutation_p.P25F NM_001098835 NP_689930 Q8N5U1 M4A15_HUMAN Homo sapiens membrane-spanning 4-domains, subfamily A, member 15 (MS4A15), transcript variant 1, mRNA. 25 integral to membrane receptor activity breast(1)|large_intestine(2)|lung(3) 6 CCTCTGCCCACCTCCGGCCATT 0.599000 63 50 0 0 1 0 0 CPAMD8 27151 broad.mit.edu 37 19 17111250 17111250 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:17111250C>T uc002nfb.3 - 9 1014 c.982G>A c.(982-984)Gga>Aga p.G328R NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA. 281 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 ACAGGGCGTCCCACCTCGTGG 0.498000 15 11 0 0 1 0 0 PSG4 5672 broad.mit.edu 37 19 43699242 43699242 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:43699242G>A uc002ovy.3 - 3 995 c.893C>T c.(892-894)cCc>cTc p.P298L PSG4_uc010xwk.1_Intron|PSG4_uc002ovz.3_Intron|PSG4_uc002owb.3_Missense_Mutation_p.P205L NM_002780 NP_002771 Q00888 PSG4_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA. 298 Ig-like C2-type 2. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) CGTGACATTGGGTAGAATGAG 0.483000 19 75 0 0 1 0 0 SAMHD1 25939 broad.mit.edu 37 20 35533870 35533870 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr20:35533870G>A uc002xgh.2 - 11 1507 c.1307C>T c.(1306-1308)cCc>cTc p.P436L SAMHD1_uc010gft.2_Non-coding_Transcript NM_015474 NP_056289 Q9Y3Z3 SAMH1_HUMAN Homo sapiens SAM domain and HD domain 1 (SAMHD1), mRNA. 436 defense response to virus|innate immune response|regulation of innate immune response nucleus metal ion binding|phosphoric diester hydrolase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1) 20 Myeloproliferative disorder(115;0.00878) TTTCAATTTGGGATCAGTAGA 0.299000 31 13 0 0 1 0 0 IKZF2 22807 broad.mit.edu 37 2 213872299 213872299 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:213872299C>T uc002vem.3 - 7 1535 c.1366G>A c.(1366-1368)Gac>Aac p.D456N IKZF2_uc010fuu.3_Missense_Mutation_p.D311N|IKZF2_uc002vej.3_Missense_Mutation_p.D403N|IKZF2_uc002vek.3_Non-coding_Transcript|IKZF2_uc010fuv.3_Missense_Mutation_p.D382N|IKZF2_uc002vel.3_Missense_Mutation_p.D377N|IKZF2_uc010fuw.3_Missense_Mutation_p.D230N|IKZF2_uc010fux.3_Missense_Mutation_p.D230N|IKZF2_uc010fuy.3_Missense_Mutation_p.D384N|IKZF2_uc002ven.3_Missense_Mutation_p.D430N|IKZF2_uc002vei.3_Missense_Mutation_p.D234N NM_016260 NP_057344 Q9UKS7 IKZF2_HUMAN Homo sapiens IKAROS family zinc finger 2 (Helios) (IKZF2), transcript variant 1, mRNA. 456 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.D456N(2) NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Esophageal squamous(248;0.0559)|Renal(323;0.218) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792) TTGTAGATGTCCTTCAGAGAG 0.473000 85 36 0 0 1 0 0 GTF3C1 2975 broad.mit.edu 37 16 27509122 27509122 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr16:27509122G>A uc002dov.2 - 13 2226 c.2186C>T c.(2185-2187)cCa>cTa p.P729L GTF3C1_uc002dou.3_Missense_Mutation_p.P729L NM_001520 NP_001511 Q12789 TF3C1_HUMAN Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA. 729 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 TTGGGGCACTGGAGGCTGGGA 0.478000 22 18 0 0 1 0 0 IQCE 23288 broad.mit.edu 37 7 2613102 2613102 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr7:2613102G>A uc003sml.1 + 5 629 c.445G>A c.(445-447)Gag>Aag p.E149K IQCE_uc010ksm.1_Missense_Mutation_p.E149K|IQCE_uc011jvy.1_Missense_Mutation_p.E133K|IQCE_uc011jvz.1_Missense_Mutation_p.E84K|IQCE_uc003smo.4_Missense_Mutation_p.E149K|IQCE_uc003smk.4_Missense_Mutation_p.E133K|IQCE_uc003smn.4_Missense_Mutation_p.E84K NM_152558 NP_689771 Q6IPM2 IQCE_HUMAN Homo sapiens IQ motif containing E (IQCE), transcript variant 1, mRNA. 149 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;1.23e-13) TATGTATGACGAGATTATTGA 0.358000 20 12 0 0 1 0 0 PRB1 5542 broad.mit.edu 37 12 11506566 11506566 + Silent SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr12:11506566C>T uc001qzw.1 - 3 505 c.468G>A c.(466-468)aaG>aaA p.K156K PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron NM_005039 NP_005030 P04280 PRP1_HUMAN Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA. 157 15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR]. Missing (in allele S).|Missing (in clone CP-4).|Missing (in clone CP-5). extracellular region NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(49;0.185) GTCCTTGTGGCTTTCCTGGAG 0.597000 50 4 0 0 1 0 0 PSTPIP2 9050 broad.mit.edu 37 18 43585483 43585483 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr18:43585483C>T uc002lbp.4 - 5 465 c.369G>A c.(367-369)atG>atA p.M123I PSTPIP2_uc002lbq.4_Missense_Mutation_p.M123I NM_024430 NP_077748 Q9H939 PPIP2_HUMAN Homo sapiens proline-serine-threonine phosphatase interacting protein 2 (PSTPIP2), mRNA. 123 membrane endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 17 GGATAGCATCCATTATGAGCT 0.294000 9 6 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21098343 21098343 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr16:21098343C>T uc010vbe.2 - 18 2704 c.2704G>A c.(2704-2706)Gag>Aag p.E902K NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 902 Stem (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) TTCCCTATCTCCTCCGCAATT 0.463000 71 41 0 0 1 0 0 MYO7B 4648 broad.mit.edu 37 2 128389909 128389909 + Missense_Mutation SNP T C C TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:128389909T>C uc002top.3 + 37 5313 c.5260T>C c.(5260-5262)Ttt>Ctt p.F1754L MYO7B_uc002tos.2_5'Flank NM_001080527 NP_001073996 Q6PIF6 MYO7B_HUMAN Homo sapiens myosin VIIB (MYO7B), mRNA. 1754 MyTH4 2. apical plasma membrane|myosin complex ATP binding|actin binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) TGCCCAGAAGTTTATAGACAC 0.667000 60 44 0 0 1 0 0 IGHG1 3500 broad.mit.edu 37 14 106204124 106204124 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr14:106204124C>T uc001yse.3 - 6 1219 c.773G>A c.(772-774)aGg>aAg p.R258K abParts_uc021ser.1_Intron|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrw.1_Intron|IGHE_uc001yrx.2_Intron|IGHE_uc001yrz.2_Intron RecName: Full=Ig gamma-1 chain C region; GATCATGTTCCTGTAGTCGGG 0.647000 30 28 0 0 1 0 0 FAM184A 79632 broad.mit.edu 37 6 119341252 119341252 + Missense_Mutation SNP G A A rs141308759 TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr6:119341252G>A uc003pyj.3 - 3 1571 c.1223C>T c.(1222-1224)tCg>tTg p.S408L FAM184A_uc003pyk.4_Missense_Mutation_p.S288L|FAM184A_uc003pyl.4_Missense_Mutation_p.S288L NM_024581 NP_078857 Q8NB25 F184A_HUMAN Homo sapiens family with sequence similarity 184, member A (FAM184A), transcript variant 1, mRNA. 408 p.S408L(2) breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5) 52 ATTGACTCTCGATTTTTCTGA 0.373000 20 22 0 0 1 0 0 VAV1 7409 broad.mit.edu 37 19 6828862 6828862 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:6828862G>A uc002mfu.1 + 12 1313 c.1216G>A c.(1216-1218)Gac>Aac p.D406N VAV1_uc010xjh.1_Missense_Mutation_p.D374N|VAV1_uc010dva.1_Missense_Mutation_p.D406N|VAV1_uc002mfv.1_Missense_Mutation_p.D351N NM_005428 NP_005419 P15498 VAV_HUMAN Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA. 406 PH. T cell costimulation|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 62 GCCCAAGATCGACGGGGAACT 0.597000 21 13 0 0 1 0 0 HAUS4 54930 broad.mit.edu 37 14 23416839 23416839 + Silent SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr14:23416839G>A uc001whw.3 - 7 1059 c.810C>T c.(808-810)gtC>gtT p.V270V HAUS4_uc001who.3_Non-coding_Transcript|HAUS4_uc001wht.3_Silent_p.V270V|HAUS4_uc001whu.3_Silent_p.V225V|HAUS4_uc001whv.3_Silent_p.V146V|HAUS4_uc001whq.3_Silent_p.V144V NM_001166269 NP_060285 Q9H6D7 HAUS4_HUMAN Homo sapiens HAUS augmin-like complex, subunit 4 (HAUS4), transcript variant 1, mRNA. 270 cell division|centrosome organization|mitosis|spindle assembly HAUS complex|centrosome|microtubule|spindle breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1) 14 CACCGCACTTGACTTCCAGGT 0.517000 25 28 0 0 1 0 0 CYYR1 116159 broad.mit.edu 37 21 27840950 27840950 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr21:27840950C>T uc002yme.3 - 3 660 c.338G>A c.(337-339)gGa>gAa p.G113E CYYR1_uc002ymd.3_Splice_Site_p.G112_splice|CYYR1_uc011ack.2_Non-coding_Transcript NM_052954 NP_443186 Q96J86 CYYR1_HUMAN Homo sapiens cysteine/tyrosine-rich 1 (CYYR1), mRNA. 112 integral to membrane large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 15 GGGTGGTGGTCCTGCTGAAAA 0.522000 22 19 0 0 1 0 0 OR4A5 81318 broad.mit.edu 37 11 51411609 51411609 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr11:51411609G>A uc001nhi.2 - 0 840 c.787C>T c.(787-789)Cct>Tct p.P263S NM_001005272 NP_001005272 Q8NH83 OR4A5_HUMAN Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA. 263 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 49 all_lung(304;0.236) TTATCAGTAGGAAAGTTTGAA 0.383000 24 6 0 0 1 0 0 KIF1C 10749 broad.mit.edu 37 17 4907322 4907322 + Silent SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr17:4907322C>T uc002gan.2 + 10 1251 c.894C>T c.(892-894)atC>atT p.I298I NM_006612 NP_006603 O43896 KIF1C_HUMAN Homo sapiens kinesin family member 1C (KIF1C), mRNA. 298 microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER Golgi apparatus|endoplasmic reticulum|microtubule ATP binding|microtubule motor activity NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3) 30 CGGATTTTATCCCCTACAGGG 0.522000 63 33 0 0 1 0 0 GGA3 23163 broad.mit.edu 37 17 73237572 73237572 + Silent SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr17:73237572G>A uc002jni.2 - 9 894 c.855C>T c.(853-855)aaC>aaT p.N285N GGA3_uc002jnk.2_Silent_p.N213N|GGA3_uc002jnj.2_Silent_p.N252N|GGA3_uc010wry.2_Silent_p.N213N|GGA3_uc010wrw.2_Silent_p.N163N|GGA3_uc010wrx.2_Silent_p.N163N NM_138619 NP_619525 Q9NZ52 GGA3_HUMAN Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 3 (GGA3), transcript variant long, mRNA. 285 Binds to ARF1 (in long isoform).|GAT. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|endosome membrane|trans-Golgi network ADP-ribosylation factor binding breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 20 all cancers(21;2.39e-06)|Epithelial(20;2.38e-05) CCCGGGAGAGGTTGTCACTGG 0.517000 24 55 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135429496 135429496 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chrX:135429496G>A uc004ezu.1 + 5 3922 c.3631G>A c.(3631-3633)Gat>Aat p.D1211N GPR112_uc010nsb.1_Missense_Mutation_p.D1006N|GPR112_uc010nsc.1_Missense_Mutation_p.D978N NM_153834 NP_722576 Q8IZF6 GP112_HUMAN Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA. 1211 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) CTCTGTTGTTGATGAGACCAC 0.473000 16 67 0 0 1 0 0 EIF4G1 1981 broad.mit.edu 37 3 184049296 184049296 + Missense_Mutation SNP C T T rs147696097 TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr3:184049296C>T uc003fnp.3 + 29 4568 c.4297C>T c.(4297-4299)Cct>Tct p.P1433S EIF4G1_uc010hxx.3_Missense_Mutation_p.P1440S|EIF4G1_uc003fnt.3_Missense_Mutation_p.P1144S|EIF4G1_uc010hxy.3_Missense_Mutation_p.P1440S|EIF4G1_uc003fnq.3_Missense_Mutation_p.P1346S|EIF4G1_uc003fnr.3_Missense_Mutation_p.P1269S|EIF4G1_uc003fns.3_Missense_Mutation_p.P1393S|EIF4G1_uc003fnv.4_Missense_Mutation_p.P1434S|EIF4G1_uc003fnw.3_Missense_Mutation_p.P1440S|EIF4G1_uc003fnx.3_Missense_Mutation_p.P1238S NM_198241 NP_937885 Q04637 IF4G1_HUMAN Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 2, mRNA. 1433 W2. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GTCGGAAGCCCCTGGCCAGAG 0.572000 97 61 0 0 1 0 0 AQP9 366 broad.mit.edu 37 15 58467155 58467155 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr15:58467155G>A uc002aez.2 + 3 772 c.415G>A c.(415-417)Gtg>Atg p.V139M ALDH1A2_uc010ugw.2_Intron|AQP9_uc010ugx.1_Missense_Mutation_p.V74M NM_020980 NP_066190 O43315 AQP9_HUMAN Homo sapiens aquaporin 9 (AQP9), mRNA. 139 cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis integral to plasma membrane|intracellular membrane-bounded organelle amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity p.V139M(2) endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1) 21 GBM - Glioblastoma multiforme(80;0.16) ACTGCTGATCGTGGGAGAAAA 0.453000 25 20 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179481212 179481212 + Nonsense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:179481212C>T uc021vsy.1 - 205 40827 c.40602G>A c.(40600-40602)tgG>tgA p.W13534* MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.W7229*|TTN_uc021vta.1_Nonsense_Mutation_p.W7162*|TTN_uc021vtb.1_Nonsense_Mutation_p.W7037* NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 14461 Ig-like 91. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCACTTTAGTCCATGTTTTCC 0.438000 52 29 0 0 1 0 0 PRSS16 10279 broad.mit.edu 37 6 27222846 27222846 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr6:27222846C>T uc003nja.3 + 10 1427 c.1412C>T c.(1411-1413)tCc>tTc p.S471F PRSS16_uc011dkt.2_Non-coding_Transcript|PRSS16_uc003njb.3_Missense_Mutation_p.S214F|PRSS16_uc003njd.3_Non-coding_Transcript NM_005865 NP_005856 Q9NQE7 TSSP_HUMAN Homo sapiens protease, serine, 16 (thymus) (PRSS16), mRNA. 471 protein catabolic process|proteolysis cytoplasmic membrane-bounded vesicle serine-type peptidase activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 26 CGCACTGGCTCCCACTGCTTG 0.532000 123 48 0 0 1 0 0 CFHR1 3078 broad.mit.edu 37 1 196748942 196748942 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr1:196748942C>T uc001gtl.3 + 2 356 c.269C>T c.(268-270)cCt>cTt p.P90L CFH_uc021pgt.1_Intron|CFHR1_uc001gtk.3_Missense_Mutation_p.P90L|CFHR1_uc010poy.2_Missense_Mutation_p.P90L|CFHR1_uc001gtm.3_Intron NM_021023 NP_066303 Q03591 FHR1_HUMAN Homo sapiens complement factor H-related 3 (CFHR3), transcript variant 1, mRNA. 90 Sushi 2. complement activation extracellular space p.F89L(1) NS(1)|kidney(1)|large_intestine(2)|lung(7) 11 TGTTATTTTCCTTATTTGGAA 0.303000 10 4 0 0 1 0 0 KRT3 3850 broad.mit.edu 37 12 53189313 53189313 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr12:53189313C>T uc001say.3 - 0 580 c.514G>A c.(514-516)Gaa>Aaa p.E172K NM_057088 NP_476429 P12035 K2C3_HUMAN Homo sapiens keratin 3 (KRT3), mRNA. 172 Head. epithelial cell differentiation|intermediate filament cytoskeleton organization keratin filament structural molecule activity p.E172K(2) NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1) 23 ATAGTCACTTCCTGAATTCCC 0.597000 26 19 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216108048 216108048 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr1:216108048G>A uc001hku.1 - 37 7597 c.7210C>T c.(7210-7212)Cct>Tct p.P2404S NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 2404 Fibronectin type-III 10. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TTGGTAAAAGGAACCAGCCCA 0.398000 HNSCC(13;0.011) 56 43 0 0 1 0 0 TBX18 9096 broad.mit.edu 37 6 85446859 85446859 + Silent SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr6:85446859G>A uc003pkl.1 - 7 1368 c.1368C>T c.(1366-1368)tcC>tcT p.S456S TBX18_uc010kbq.2_Intron NM_001080508 NP_001073977 O95935 TBX18_HUMAN Homo sapiens T-box 18 (TBX18), mRNA. 456 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3) 61 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) CGCCCACATAGGAGGGAGTCC 0.582000 45 31 0 0 1 0 0 BCL9 607 broad.mit.edu 37 1 147092129 147092129 + Missense_Mutation SNP A C C TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr1:147092129A>C uc001epq.3 + 7 2908 c.2168A>C c.(2167-2169)aAt>aCt p.N723T BCL9_uc010ozr.1_Missense_Mutation_p.N649T NM_004326 NP_004317 O00512 BCL9_HUMAN Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA. 723 Pro-rich. Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) GTCAATCTAAATGTCAACATG 0.527000 T """IGH@, IGL@""" B-ALL 21 10 0 0 1 0 0 RBP3 5949 broad.mit.edu 37 10 48389950 48389950 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr10:48389950C>T uc001jez.3 - 0 1042 c.928G>A c.(928-930)Gag>Aag p.E310K NM_002900 NP_002891 P10745 RET3_HUMAN Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA. 310 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) AGGGCCTGCTCGGCCGGAGTC 0.677000 1 6 0 0 1 0 0 AURKA 6790 broad.mit.edu 37 20 54956600 54956600 + Silent SNP A C C TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr20:54956600A>C uc002xxe.1 - 6 851 c.594T>G c.(592-594)ggT>ggG p.G198G AURKA_uc002xxf.1_Silent_p.G198G|AURKA_uc002xxg.1_Silent_p.G198G|AURKA_uc002xxh.1_Silent_p.G198G|AURKA_uc002xxi.1_Silent_p.G198G|AURKA_uc002xxj.1_Silent_p.G198G|AURKA_uc010zzd.1_Non-coding_Transcript|AURKA_uc002xxd.1_Silent_p.G198G NM_198434 NP_940839 O14965 AURKA_HUMAN Homo sapiens aurora kinase A (AURKA), transcript variant 3, mRNA. 198 Protein kinase. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome ATP binding|protein kinase binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2) 22 Colorectal(105;0.202) CATGGAAATAACCATACAGTC 0.363000 22 19 0 0 1 0 0 FAM83C 128876 broad.mit.edu 37 20 33876366 33876366 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr20:33876366C>T uc021wck.1 - 2 822 c.704G>A c.(703-705)tGt>tAt p.C235Y FAM83C_uc002xcb.1_Missense_Mutation_p.C59Y NM_178468 NP_848563 Q9BQN1 FA83C_HUMAN Homo sapiens family with sequence similarity 83, member C (FAM83C), mRNA. 235 central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(18;0.00252) TGTGTCCCCACACGTGCTCCG 0.602000 23 8 0 0 1 0 0 C2orf78 388960 broad.mit.edu 37 2 74043654 74043654 + Silent SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:74043654C>T uc002sjr.1 + 2 2425 c.2304C>T c.(2302-2304)tcC>tcT p.S768S NM_001080474 NP_001073943 A6NCI8 CB078_HUMAN Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA. 768 cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1) 34 TCAATCCATCCCGACCAGCTC 0.557000 29 13 0 0 1 0 0 B4GALNT4 338707 broad.mit.edu 37 11 379575 379575 + Missense_Mutation SNP G T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr11:379575G>T uc001lpb.3 + 14 2371 c.2362G>T c.(2362-2364)Gat>Tat p.D788Y NM_178537 NP_848632 Q76KP1 B4GN4_HUMAN Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 4 (B4GALNT4), mRNA. 788 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 24 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) CCGCGTAGGGGATGCAGACGG 0.746000 1 6 8.12818e-05 8.19269e-05 1 1 0 SLC9C1 285335 broad.mit.edu 37 3 111899464 111899464 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr3:111899464C>T uc003dyu.3 - 21 2917 c.2695G>A c.(2695-2697)Gaa>Aaa p.E899K SLC9C1_uc011bhu.2_Missense_Mutation_p.E162K|SLC9C1_uc010hqc.3_Missense_Mutation_p.E851K NM_183061 NP_898884 Q4G0N8 S9A10_HUMAN Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA. 899 cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity TCACCTTCTTCAAATATATCA 0.323000 21 17 0 0 1 0 0 ANKRD11 29123 broad.mit.edu 37 16 89347696 89347696 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr16:89347696G>A uc002fmx.1 - 8 5715 c.5254C>T c.(5254-5256)Ccc>Tcc p.P1752S ANKRD11_uc002fmy.1_Missense_Mutation_p.P1752S|ANKRD11_uc002fnc.1_Missense_Mutation_p.P1752S|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.P1709S NM_013275 NP_037407 Q6UB99 ANR11_HUMAN Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA. 1752 nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) GCGCTGGTGGGAGCGGTGGGC 0.667000 46 22 0 0 1 0 0 BTBD11 121551 broad.mit.edu 37 12 108035942 108035942 + Silent SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr12:108035942C>T uc001tmk.1 + 13 3437 c.2916C>T c.(2914-2916)atC>atT p.I972I BTBD11_uc001tmj.3_Silent_p.I972I|BTBD11_uc001tml.1_Silent_p.I509I|BTBD11_uc001tmm.1_Silent_p.I51I NM_001018072 NP_001018082 A6QL63 BTBDB_HUMAN Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA. 972 BTB. integral to membrane DNA binding p.I972S(1) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 AATACTCCATCTTTCAGGTGA 0.517000 29 25 0 0 1 0 0 TRPV6 55503 broad.mit.edu 37 7 142573596 142573596 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr7:142573596G>A uc003wbx.2 - 6 1053 c.824C>T c.(823-825)tCg>tTg p.S275L TRPV6_uc003wbw.1_Missense_Mutation_p.S61L|TRPV6_uc010lou.1_Missense_Mutation_p.S146L NM_018646 NP_061116 Q9H1D0 TRPV6_HUMAN Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA. 275 regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding p.S275L(2) breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) ATAGAGAGTCGAGGTCAGTGG 0.517000 70 39 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57335829 57335829 + Silent SNP G A A rs148324200 TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:57335829G>A uc002qnu.2 - 0 546 c.195C>T c.(193-195)atC>atT p.I65I PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_5'UTR|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Silent_p.I65I|PEG3_uc002qnv.2_Silent_p.I65I|PEG3_uc002qnw.2_Intron|PEG3_uc002qnx.2_Intron|PEG3_uc010etr.2_Silent_p.I65I NM_001146186 NP_001139657 Q9GZU2 PEG3_HUMAN Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA. 65 SCAN box. apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TTCGGAGTTTGATCAGGGTCT 0.502000 42 28 0 0 1 0 0 ZNF677 342926 broad.mit.edu 37 19 53741069 53741069 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:53741069G>A uc002qbg.1 - 4 1062 c.911C>T c.(910-912)tCg>tTg p.S304L ZNF677_uc002qbf.1_Missense_Mutation_p.S304L NM_182609 NP_872415 Q86XU0 ZN677_HUMAN Homo sapiens zinc finger protein 677 (ZNF677), mRNA. 304 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S304S(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GBM - Glioblastoma multiforme(134;0.00352) AGTGAGGTTCGAACACTGGTT 0.403000 32 19 0 0 1 0 0 GPR116 221395 broad.mit.edu 37 6 46826212 46826212 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr6:46826212G>A uc003oyo.3 - 16 3717 c.3428C>T c.(3427-3429)tCg>tTg p.S1143L GPR116_uc011dwj.1_Missense_Mutation_p.S698L|GPR116_uc011dwk.1_Missense_Mutation_p.S572L|GPR116_uc003oyp.3_Missense_Mutation_p.S1001L|GPR116_uc003oyq.3_Missense_Mutation_p.S1143L|GPR116_uc010jzi.1_Missense_Mutation_p.S815L NM_001098518 NP_056049 Q8IZF2 GP116_HUMAN Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA. 1143 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.S1143S(1) breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) CGTGATGACCGAGATGGCAAG 0.552000 17 8 0 0 1 0 0 CPNE9 151835 broad.mit.edu 37 3 9768363 9768363 + Silent SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr3:9768363C>T uc021wst.1 + 18 1530 c.1359C>T c.(1357-1359)ccC>ccT p.P453P CPNE9_uc003bsd.3_Silent_p.P452P NM_153635 NP_705899 Q8IYJ1 CPNE9_HUMAN Homo sapiens copine family member IX (CPNE9), mRNA. 453 VWFA. breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 16 Medulloblastoma(99;0.227) CCTCATTGCCCATGTCTATCA 0.527000 50 22 0 0 1 0 0 GUCY1A3 2982 broad.mit.edu 37 4 156631888 156631888 + Silent SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr4:156631888C>T uc003iov.3 + 6 1107 c.571C>T c.(571-573)Cta>Tta p.L191L GUCY1A3_uc003iou.2_Silent_p.L191L|GUCY1A3_uc010iqc.2_Silent_p.L191L|GUCY1A3_uc010iqd.3_Silent_p.L190L|GUCY1A3_uc003iow.3_Silent_p.L191L|GUCY1A3_uc003iox.3_Silent_p.L191L|GUCY1A3_uc010iqe.3_5'UTR|GUCY1A3_uc003ioy.3_Silent_p.L191L|GUCY1A3_uc003ioz.3_5'UTR|GUCY1A3_uc003ipa.3_Intron|GUCY1A3_uc003ipb.3_Silent_p.L191L NM_000856 NP_001124157 Q02108 GCYA3_HUMAN Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA. 191 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) CGCCTCCATTCTATGCCTGGA 0.463000 4 12 0 0 1 0 0 EPB41L4B 54566 broad.mit.edu 37 9 111956585 111956585 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr9:111956585G>A uc004bdz.1 - 20 2433 c.2138C>T c.(2137-2139)tCc>tTc p.S713F NM_019114 NP_061987 Q9H329 E41LB_HUMAN Homo sapiens erythrocyte membrane protein band 4.1 like 4B (EPB41L4B), transcript variant 2, mRNA. 713 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CAGCGGCACGGAGACTTGTGT 0.612000 65 29 0 0 1 0 0 SEPP1 6414 broad.mit.edu 37 5 42804856 42804856 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr5:42804856G>A uc011cps.2 - 4 624 c.526C>T c.(526-528)Cat>Tat p.H176Y SEPP1_uc011cpt.2_Missense_Mutation_p.H146Y|SEPP1_uc011cpu.2_Missense_Mutation_p.H146Y|SEPP1_uc003jna.3_Non-coding_Transcript NM_001093726 P49908 SEPP1_HUMAN Homo sapiens selenoprotein P, plasma, 1 (SEPP1), transcript variant 3, mRNA. 146 response to oxidative stress extracellular region selenium binding kidney(10)|large_intestine(1)|lung(4) 15 AAACCAAGATGATATACAAGA 0.368000 4 22 0 0 1 0 0 GPR141 353345 broad.mit.edu 37 7 37780713 37780713 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr7:37780713C>T uc003tfm.1 + 0 718 c.718C>T c.(718-720)Ccc>Tcc p.P240S BC043356_uc003tfl.3_Intron NM_181791 NP_861456 Q7Z602 GP141_HUMAN Homo sapiens G protein-coupled receptor 141 (GPR141), mRNA. 240 integral to membrane|plasma membrane G-protein coupled receptor activity 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 TTGTTTCCTTCCCTACCAGTT 0.418000 56 24 0 0 1 0 0 PTPRB 5787 broad.mit.edu 37 12 70981045 70981045 + Missense_Mutation SNP G A A rs3960114 TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr12:70981045G>A uc001swb.4 - 6 1429 c.1399C>T c.(1399-1401)Ccc>Tcc p.P467S PTPRB_uc010sto.2_Missense_Mutation_p.P467S|PTPRB_uc010stp.2_Missense_Mutation_p.P377S|PTPRB_uc001swc.4_Missense_Mutation_p.P685S|PTPRB_uc001swa.4_Missense_Mutation_p.P685S|PTPRB_uc001swd.4_Missense_Mutation_p.P684S|PTPRB_uc009zrr.2_Missense_Mutation_p.P564S NM_002837 NP_002828 P23467 PTPRB_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA. 467 Fibronectin type-III 6. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.P467S(3)|p.P685S(1) breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) ACAGCCAGGGGGACTGAGGAA 0.458000 9 11 0 0 1 0 0 EIF3A 8661 broad.mit.edu 37 10 120832525 120832525 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr10:120832525G>A uc001ldu.3 - 3 564 c.418C>T c.(418-420)Cgt>Tgt p.R140C EIF3A_uc010qsu.2_Missense_Mutation_p.R106C NM_003750 NP_003741 Q14152 EIF3A_HUMAN Homo sapiens eukaryotic translation initiation factor 3, subunit A (EIF3A), mRNA. 140 formation of translation initiation complex cytosol|eukaryotic translation initiation factor 3 complex protein binding|structural molecule activity|translation initiation factor activity endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3) 56 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0236) CTGTCAGTACGATCCTGAGTG 0.388000 10 13 0 0 1 0 0 NPR1 4881 broad.mit.edu 37 1 153655045 153655045 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr1:153655045C>T uc001fcs.4 + 4 1664 c.1243C>T c.(1243-1245)Ccc>Tcc p.P415S NPR1_uc010pdz.2_Missense_Mutation_p.P161S|NPR1_uc010pea.2_5'Flank NM_000906 NP_000897 P16066 ANPRA_HUMAN Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA. 415 body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325) GGATATGGATCCCGAGAATGG 0.522000 13 7 0 0 1 0 0 CDH8 1006 broad.mit.edu 37 16 61747770 61747770 + Silent SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr16:61747770C>T uc002eog.2 - 9 2584 c.1629G>A c.(1627-1629)ccG>ccA p.P543P NM_001796 NP_001787 P55286 CADH8_HUMAN Homo sapiens cadherin 8, type 2 (CDH8), mRNA. 543 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.P543P(2)|p.P543L(1) biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) TGGTGAAATTCGGATTGTTGA 0.333000 13 8 0 0 1 0 0 EHMT2 10919 broad.mit.edu 37 6 31852256 31852256 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr6:31852256G>A uc003nxz.1 - 20 2694 c.2684C>T c.(2683-2685)tCc>tTc p.S895F EHMT2_uc003nxx.1_Missense_Mutation_p.S93F|EHMT2_uc003nxy.1_Missense_Mutation_p.S693F|EHMT2_uc011don.1_Missense_Mutation_p.S918F|EHMT2_uc003nya.1_Missense_Mutation_p.S861F NM_006709 NP_006700 Q96KQ7 EHMT2_HUMAN Homo sapiens euchromatic histone-lysine N-methyltransferase 2 (EHMT2), transcript variant NG36/G9a, mRNA. 895 DNA methylation|peptidyl-lysine dimethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1) 21 CCACACGTCGGAGCGCTCGGG 0.612000 145 47 0 0 1 0 0 MYOCD 93649 broad.mit.edu 37 17 12661487 12661487 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr17:12661487C>T uc002gno.2 + 11 2587 c.2288C>T c.(2287-2289)tCa>tTa p.S763L MYOCD_uc002gnn.2_Missense_Mutation_p.S715L|MYOCD_uc002gnp.1_Missense_Mutation_p.S667L|MYOCD_uc002gnq.2_Intron NM_001146312 NP_001139784 Q8IZQ8 MYCD_HUMAN Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA. 715 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) TCAGCAATTTCAGAGGTAACA 0.408000 20 14 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21901480 21901480 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr7:21901480G>A uc003svc.3 + 69 11264 c.11233G>A c.(11233-11235)Gtg>Atg p.V3745M NM_003777 NP_003768 Q96DT5 DYH11_HUMAN Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA. 3745 microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 GGCTTTTAACGTGCTGTTCCA 0.483000 Kartagener syndrome 17 17 0 0 1 0 0 ATP2B2 491 broad.mit.edu 37 3 10382201 10382201 + Silent SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr3:10382201G>A uc003bvt.3 - 19 3544 c.3105C>T c.(3103-3105)atC>atT p.I1035I ATP2B2_uc003bvv.3_Silent_p.I990I|ATP2B2_uc003bvw.3_Silent_p.I990I|ATP2B2_uc010hdo.3_Silent_p.I740I NM_001001331 NP_001001331 Q01814 AT2B2_HUMAN Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA. 1035 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding p.Q1034Q(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 TGCCCAGCACGATGGTGCAGA 0.627000 46 35 0 0 1 0 0 RALGAPA1 253959 broad.mit.edu 37 14 36155855 36155855 + Missense_Mutation SNP T G G TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr14:36155855T>G uc001wtj.3 - 17 2843 c.2452A>C c.(2452-2454)Agc>Cgc p.S818R RALGAPA1_uc001wti.3_Missense_Mutation_p.S818R|RALGAPA1_uc010tpv.2_Intron|RALGAPA1_uc010tpw.1_Missense_Mutation_p.S865R|RALGAPA1_uc001wtk.1_Missense_Mutation_p.S716R NM_194301 NP_919277 Q6GYQ0 RGPA1_HUMAN Homo sapiens Ral GTPase activating protein, alpha subunit 1 (catalytic) (RALGAPA1), transcript variant 2, mRNA. 818 activation of Ral GTPase activity cytosol|mitochondrion|nucleus Ral GTPase activator activity|protein heterodimerization activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 AGTTTTTGGCTCATGTCCTCT 0.348000 2 8 0 0 1 0 0 TAF7 6879 broad.mit.edu 37 5 140698781 140698781 + Silent SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr5:140698781C>T uc003ljg.3 - 0 1571 c.831G>A c.(829-831)ctG>ctA p.L277L NM_005642 NP_005633 Q15545 TAF7_HUMAN Homo sapiens TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa (TAF7), mRNA. 277 negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding p.L277L(2) central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCCCATAACCAGCTGATTGG 0.443000 15 37 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104033936 104033936 + Silent SNP C T T rs144975292 TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr12:104033936C>T uc001tjw.3 + 8 1128 c.942C>T c.(940-942)ttC>ttT p.F314F NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN Homo sapiens stabilin 2 (STAB2), mRNA. 314 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 p.F314F(2) 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 ACCAGAATTTCGTACCTGGAG 0.448000 40 31 0 0 1 0 0 OR14A16 284532 broad.mit.edu 37 1 247978950 247978950 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr1:247978950G>A uc001idm.1 - 0 82 c.82C>T c.(82-84)Ctc>Ttc p.L28F NM_001001966 NP_001001966 Q8NHC5 O14AG_HUMAN Homo sapiens olfactory receptor, family 14, subfamily A, member 16 (OR14A16), mRNA. 28 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I27T(1) breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1) 45 AACAAGAAGAGAATCGAATGC 0.388000 15 9 0 0 1 0 0 TRAF6 7189 broad.mit.edu 37 11 36518747 36518747 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr11:36518747G>A uc001mwq.2 - 4 898 c.517C>T c.(517-519)Cat>Tat p.H173Y TRAF6_uc001mws.2_Missense_Mutation_p.H173Y NM_145803 NP_665802 Q9Y4K3 TRAF6_HUMAN Homo sapiens TNF receptor-associated factor 6 (TRAF6), transcript variant 1, mRNA. 173 Interaction with TAX1BP1. JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|membrane protein intracellular domain proteolysis|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|positive regulation of interleukin-2 production|positive regulation of osteoclast differentiation|protein K63-linked ubiquitination|protein autoubiquitination|response to interleukin-1|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 CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein N-terminus binding|protein kinase B binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1) 27 all_lung(20;0.211) all_hematologic(20;0.107) ATATTAATATGGAATTTTTGG 0.368000 11 15 0 0 1 0 0 TSPEAR 54084 broad.mit.edu 37 21 45987709 45987709 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr21:45987709G>A uc002zfe.1 - 1 329 c.263C>T c.(262-264)tCc>tTc p.S88F TSPEAR_uc010gpv.1_Missense_Mutation_p.S20F NM_144991 NP_659428 Q8WU66 TSEAR_HUMAN Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA. 88 TSP N-terminal. cell adhesion extracellular region structural molecule activity breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 37 TACGACGATGGAAAATTCTTC 0.522000 21 13 0 0 1 0 0 ROS1 6098 broad.mit.edu 37 6 117622181 117622181 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr6:117622181C>T uc003pxp.1 - 41 6888 c.6689G>A c.(6688-6690)aGa>aAa p.R2230K ROS1_uc011ebi.1_Non-coding_Transcript|RN7SK_uc021zee.1_5'Flank NM_002944 NP_002935 P08922 ROS_HUMAN Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA. 2230 transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) TGCTTCATCTCTGGACTTATA 0.363000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 13 18 0 0 1 0 0 TOX2 84969 broad.mit.edu 37 20 42635408 42635408 + Silent SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr20:42635408C>T uc010ggo.3 + 2 427 c.387C>T c.(385-387)caC>caT p.H129H TOX2_uc002xle.4_Silent_p.H87H|TOX2_uc010ggp.3_Silent_p.H87H|TOX2_uc002xlf.4_Silent_p.H138H|Metazoa_SRP_uc021wdz.1_5'Flank NM_001098797 NP_116272 Q96NM4 TOX2_HUMAN Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA. 138 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2) 26 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) AGGACAGCCACCTGCTGTCGG 0.617000 15 7 0 0 1 0 0 HPD 3242 broad.mit.edu 37 12 122292672 122292672 + Silent SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr12:122292672G>A uc001ubj.3 - 6 391 c.351C>T c.(349-351)atC>atT p.I117I HPD_uc001ubk.3_Silent_p.I78I NM_002150 NP_001165464 P32754 HPPD_HUMAN Homo sapiens 4-hydroxyphenylpyruvate dioxygenase (HPD), transcript variant 1, mRNA. 117 L-phenylalanine catabolic process|tyrosine catabolic process cytosol 4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1) 18 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225) Nitisinone(DB00348) GCTCCCGCATGATTTTGGCGC 0.597000 60 28 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240374523 240374523 + Silent SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr1:240374523G>A uc010pye.2 + 6 4290 c.4065G>A c.(4063-4065)acG>acA p.T1355T FMN2_uc010pyd.2_Silent_p.T1351T NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN Homo sapiens formin 2 (FMN2), mRNA. 1351 FH2. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) TCTCAAAGACGAAGGCTAAAC 0.338000 48 29 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152328577 152328577 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr1:152328577C>T uc001ezw.4 - 2 1758 c.1685G>A c.(1684-1686)aGa>aAa p.R562K AK056431_uc001ezv.3_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN Homo sapiens filaggrin family member 2 (FLG2), mRNA. 562 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGATGTCTCTCTAGACCCATA 0.498000 133 78 0 0 1 0 0 C18orf26 284254 broad.mit.edu 37 18 52265165 52265165 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr18:52265165C>T uc002lfq.1 + 2 468 c.422C>T c.(421-423)tCg>tTg p.S141L NM_173629 NP_775900 Q8N1N2 CR026_HUMAN Homo sapiens chromosome 18 open reading frame 26 (C18orf26), mRNA. 141 integral to membrane p.G140E(1) endometrium(4)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1) 11 Colorectal(16;0.0193)|READ - Rectum adenocarcinoma(59;0.178) AACAAAGGATCGGCCAATTCC 0.448000 32 15 0 0 1 0 0 SLC26A11 284129 broad.mit.edu 37 17 78195378 78195378 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr17:78195378G>A uc002jyb.2 + 2 325 c.19G>A c.(19-21)Gcg>Acg p.A7T SGSH_uc002jxz.4_5'Flank|SGSH_uc002jya.4_5'Flank|SGSH_uc002jxy.2_5'Flank|SGSH_uc010wue.1_5'Flank|SLC26A11_uc002jyc.2_Missense_Mutation_p.A7T|SLC26A11_uc002jyd.2_Missense_Mutation_p.A7T|SLC26A11_uc010dhv.2_Missense_Mutation_p.A7T NM_173626 NP_775897 Q86WA9 S2611_HUMAN Homo sapiens solute carrier family 26, member 11 (SLC26A11), transcript variant 2, mRNA. 7 Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 28 all_neural(118;0.0538) OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908) TTCGGTGACGGCGCTGGGTCA 0.682000 8 13 0 0 1 0 0 ZNF257 113835 broad.mit.edu 37 19 22271743 22271743 + Silent SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:22271743G>A uc010ecx.3 + 3 1360 c.1191G>A c.(1189-1191)gaG>gaA p.E397E ZNF257_uc010ecy.3_Silent_p.E365E NM_033468 NP_258429 Q9Y2Q1 ZN257_HUMAN Homo sapiens zinc finger protein 257 (ZNF257), mRNA. 397 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|lung(4) 6 all_lung(12;0.0961)|Lung NSC(12;0.103) ATACTAGAGAGAAGGCCTACA 0.373000 4 5 0 0 1 0 0 COL4A1 1282 broad.mit.edu 37 13 110839568 110839568 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr13:110839568G>A uc001vqw.4 - 24 1767 c.1645C>T c.(1645-1647)Cca>Tca p.P549S NM_001845 NP_001836 P02462 CO4A1_HUMAN Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA. 549 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) GGCTGTCCTGGAAAGCCTGGG 0.592000 41 34 0 0 1 0 0 IL37 27178 broad.mit.edu 37 2 113676334 113676334 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:113676334C>T uc002tij.3 + 4 647 c.605C>T c.(604-606)tCa>tTa p.S202L IL37_uc002tim.3_Missense_Mutation_p.S141L|IL37_uc002tik.3_Missense_Mutation_p.S181L|IL37_uc002til.3_Missense_Mutation_p.S162L|IL37_uc002tin.3_Missense_Mutation_p.S176L NM_014439 NP_055254 Q9NZH6 IL37_HUMAN Homo sapiens interleukin 37 (IL37), transcript variant 1, mRNA. 202 immune response cytosol|extracellular space|nucleus cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3) 19 ATTGAATTTTCATTTCAACCA 0.458000 25 16 0 0 1 0 0 CLU 1191 broad.mit.edu 37 8 27461904 27461904 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr8:27461904C>T uc003xfy.2 - 5 1018 c.871G>A c.(871-873)Gat>Aat p.D291N CLU_uc003xfw.2_Missense_Mutation_p.D280N|CLU_uc003xfx.2_Missense_Mutation_p.D280N|CLU_uc003xfz.2_Missense_Mutation_p.D280N NM_001831 NP_001822 P10909 CLUS_HUMAN Homo sapiens clusterin (CLU), transcript variant 1, mRNA. 280 chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle misfolded protein binding|ubiquitin protein ligase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2) 21 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132) GTCCGGTCATCGTCGCCTTCT 0.517000 20 11 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113234603 113234603 + Splice_Site SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr9:113234603C>T uc010mtz.3 - 15 2937 c.2600_splice c.e15-1 p.G867_splice SVEP1_uc010mua.1_Splice_Site_p.G867_splice NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA. 867 cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 GCCACCTGGTCCTGGATAGTC 0.483000 22 21 0 0 1 0 0 KCNQ3 3786 broad.mit.edu 37 8 133152325 133152325 + Silent SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr8:133152325G>A uc003ytj.3 - 10 1791 c.1566C>T c.(1564-1566)gtC>gtT p.V522V KCNQ3_uc003yti.3_Silent_p.V402V|KCNQ3_uc010mdt.3_Silent_p.V522V NM_004519 NP_004510 O43525 KCNQ3_HUMAN Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA. 522 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity p.V522I(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) GGCATTACCTGACGGCTCGGA 0.592000 39 18 0 0 1 0 0 SLC10A2 6555 broad.mit.edu 37 13 103703679 103703679 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr13:103703679C>T uc001vpy.4 - 3 1286 c.689G>A c.(688-690)gGa>gAa p.G230E NM_000452 NP_000443 Q12908 NTCP2_HUMAN Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 2 (SLC10A2), mRNA. 230 bile acid metabolic process|organic anion transport integral to plasma membrane bile acid:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) AAATATTGTTCCTATAATCCA 0.493000 33 22 0 0 1 0 0 OR7G3 390883 broad.mit.edu 37 19 9237504 9237504 + Silent SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:9237504C>T uc010xkl.2 - 0 123 c.123G>A c.(121-123)ggG>ggA p.G41G NM_001001958 NP_001001958 Q8NG95 OR7G3_HUMAN Homo sapiens olfactory receptor, family 7, subfamily G, member 3 (OR7G3), mRNA. 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 TGAGCAGGTTCCCCAGCATTG 0.542000 26 17 0 0 1 0 0 TNFAIP2 7127 broad.mit.edu 37 14 103593823 103593823 + Missense_Mutation SNP C G G TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr14:103593823C>G uc001ymm.1 + 1 848 c.717C>G c.(715-717)ttC>ttG p.F239L TNFAIP2_uc010awo.1_Intron|TNFAIP2_uc010txz.1_5'UTR NM_006291 NP_006282 Q03169 TNAP2_HUMAN Homo sapiens tumor necrosis factor, alpha-induced protein 2 (TNFAIP2), mRNA. 239 angiogenesis|cell differentiation extracellular space NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 11 Melanoma(154;0.155) Epithelial(46;0.191) AGCCGCTGTTCCCCGCCGAGT 0.721000 8 10 0 0 1 0 0 NPC1L1 29881 broad.mit.edu 37 7 44578685 44578685 + Silent SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr7:44578685G>A uc003tlb.3 - 1 1367 c.1311C>T c.(1309-1311)gaC>gaT p.D437D NPC1L1_uc011kbw.2_Silent_p.D437D|NPC1L1_uc003tlc.3_Silent_p.D437D|NPC1L1_uc003tld.3_Silent_p.D437D NM_013389 NP_037521 Q9UHC9 NPCL1_HUMAN Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA. 437 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) GCAAGTCCAGGTCCAGGATTC 0.597000 25 15 0 0 1 0 0 TCEAL2 140597 broad.mit.edu 37 X 101381968 101381968 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chrX:101381968G>A uc022car.1 + 0 166 c.166G>A c.(166-168)Gaa>Aaa p.E56K TCEAL2_uc004eip.3_Missense_Mutation_p.E56K NM_080390 NP_525129 Q9H3H9 TCAL2_HUMAN Homo sapiens transcription elongation factor A (SII)-like 2 (TCEAL2), mRNA. 56 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1) 11 GAGAGTTGAGGAACCGTTAAA 0.473000 3 12 0 0 1 0 0 AMOT 154796 broad.mit.edu 37 X 112024188 112024188 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chrX:112024188G>A uc004epr.3 - 8 2417 c.2399C>T c.(2398-2400)tCc>tTc p.S800F AMOT_uc004eps.3_Missense_Mutation_p.S391F|AMOT_uc011mtc.1_Missense_Mutation_p.S40F|MIR4329_uc022ccu.1_5'Flank NM_001113490 NP_573572 Q4VCS5 AMOT_HUMAN Homo sapiens angiomotin (AMOT), transcript variant 1, mRNA. 800 actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction angiostatin binding|protein binding|receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 43 GGATGAGTGGGAGAGCAAGCC 0.542000 23 59 0 0 1 0 0 DOK6 220164 broad.mit.edu 37 18 67231792 67231792 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr18:67231792C>T uc002lkl.3 + 1 333 c.136C>T c.(136-138)Cca>Tca p.P46S NM_152721 NP_689934 Q6PKX4 DOK6_HUMAN Homo sapiens docking protein 6 (DOK6), mRNA. 46 PH. insulin receptor binding p.P46S(2) central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 20 Colorectal(73;0.083)|Esophageal squamous(42;0.131) AGAAAAATTTCCAGATGAAAA 0.418000 19 11 0 0 1 0 0 ANKRD30BL 554226 broad.mit.edu 37 2 132905786 132905786 + RNA SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:132905786C>T uc002tti.3 - 6 c.1105G>A ANKRD30BL_uc002ttj.3_Non-coding_Transcript Homo sapiens ankyrin repeat domain 30B-like (ANKRD30BL), transcript variant 1, non-coding RNA. endometrium(1)|kidney(3) 4 ATCAGGTGTTCCTTCAGATGT 0.443000 4 4 0 0 1 0 0 MEMO1 51072 broad.mit.edu 37 2 32093518 32093518 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:32093518G>A uc002rnx.3 - 8 1188 c.806C>T c.(805-807)tCg>tTg p.S269L MEMO1_uc010ymu.2_Missense_Mutation_p.S246L|MEMO1_uc010ezq.3_Missense_Mutation_p.S269L|MEMO1_uc002rny.3_Non-coding_Transcript|MEMO1_uc002rnz.3_Non-coding_Transcript NM_015955 NP_057039 Q9Y316 MEMO1_HUMAN Homo sapiens mediator of cell motility 1 (MEMO1), transcript variant 1, mRNA. 269 regulation of microtubule-based process cytosol|nucleus NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2) 17 Acute lymphoblastic leukemia(172;0.155) ATTCAAAAACGAAAAACTCAT 0.423000 7 6 0 0 1 0 0 RTN4IP1 84816 broad.mit.edu 37 6 107040048 107040048 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr6:107040048G>A uc003prj.3 - 5 1274 c.797C>T c.(796-798)tCc>tTc p.S266F RTN4IP1_uc010kdd.3_Intron|RTN4IP1_uc003prk.3_Missense_Mutation_p.S166F NM_032730 NP_116119 Q8WWV3 RT4I1_HUMAN Homo sapiens reticulon 4 interacting protein 1 (RTN4IP1), nuclear gene encoding mitochondrial protein, mRNA. 266 mitochondrion oxidoreductase activity|zinc ion binding breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1) 13 Breast(9;0.0107)|all_epithelial(6;0.14) all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144) Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394) all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144) CGGTTTTAAGGATTTCAACTG 0.428000 48 23 0 0 1 0 0 KCNV1 27012 broad.mit.edu 37 8 110980759 110980759 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr8:110980759G>A uc003ynr.4 - 2 1865 c.1061C>T c.(1060-1062)tCc>tTc p.S354F KCNV1_uc010mcw.3_Missense_Mutation_p.S354F NM_014379 NP_055194 Q6PIU1 KCNV1_HUMAN Homo sapiens potassium channel, subfamily V, member 1 (KCNV1), mRNA. 354 voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) GATTCCCACGGATAGAAATAG 0.473000 27 12 0 0 1 0 0 MMP28 79148 broad.mit.edu 37 17 34100323 34100323 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr17:34100323G>A uc002hjy.1 - 4 722 c.463C>T c.(463-465)Cgc>Tgc p.R155C MMP28_uc002hjw.1_Non-coding_Transcript|MMP28_uc002hjz.1_Non-coding_Transcript NM_024302 NP_077278 Q9H239 MMP28_HUMAN Homo sapiens matrix metallopeptidase 28 (MMP28), transcript variant 1, mRNA. 156 proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(1)|kidney(2)|lung(7)|ovary(1)|skin(5) 16 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) AAGGCGGCGCGCACGGCGCCC 0.642000 14 17 0 0 1 0 0 ZNF746 155061 broad.mit.edu 37 7 149172180 149172180 + Silent SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr7:149172180G>A uc010lpi.2 - 6 1504 c.1233C>T c.(1231-1233)gcC>gcT p.A411A ZNF746_uc003wfw.2_Silent_p.A410A NM_001163474 NP_001156946 Q6NUN9 ZN746_HUMAN Homo sapiens zinc finger protein 746 (ZNF746), transcript variant 1, mRNA. 410 negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent cytoplasm|nucleus transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) GGTCCAAGATGGCCTCTCCGT 0.632000 6 7 0 0 1 0 0 REV3L 5980 broad.mit.edu 37 6 111689212 111689212 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr6:111689212G>A uc003puy.4 - 13 6120 c.5779C>T c.(5779-5781)Ctc>Ttc p.L1927F REV3L_uc003pux.4_Missense_Mutation_p.L1849F|REV3L_uc003puz.4_Missense_Mutation_p.L1849F|REV3L_uc003pva.1_Non-coding_Transcript NM_002912 NP_002903 O60673 DPOLZ_HUMAN Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA. 1927 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) TCTACCATGAGGAGCCGTCCA 0.383000 DNA polymerases (catalytic subunits) 13 12 0 0 1 0 0 C6orf165 154313 broad.mit.edu 37 6 88125461 88125461 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr6:88125461G>A uc003plv.3 + 4 464 c.341G>A c.(340-342)cGa>cAa p.R114Q C6orf165_uc003plu.2_Missense_Mutation_p.R114Q|C6orf165_uc003plw.3_5'UTR|C6orf165_uc010kbv.2_Non-coding_Transcript NM_001031743 NP_001026913 Q8IYR0 CF165_HUMAN Homo sapiens chromosome 6 open reading frame 165 (C6orf165), mRNA. 114 NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) TCTGTTACCCGAGAAATTACA 0.398000 30 24 0 0 1 0 0 C19orf55 148137 broad.mit.edu 37 19 36256065 36256066 + Missense_Mutation DNP CC TT TT TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:36256065_36256066CC>TT uc021usz.1 + 6 830_831 c.757_758CC>TT c.(757-759)ccc>TTc p.P253F NM_001039887 NP_001034976 Q2NL68 CS055_HUMAN Homo sapiens chromosome 19 open reading frame 55 (C19orf55), mRNA. 253 cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1) 15 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GGGCCTTGGCCCCAGGGCACCC 0.619000 24 12 0 0 1 0 0 OR1E2 8388 broad.mit.edu 37 17 3336383 3336383 + Silent SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr17:3336383G>A uc010vre.2 - 0 753 c.753C>T c.(751-753)ggC>ggT p.G251G NM_003554 NP_003545 P47887 OR1E2_HUMAN Homo sapiens olfactory receptor, family 1, subfamily E, member 2 (OR1E2), mRNA. 251 sensory perception of smell integral to plasma membrane olfactory receptor activity endometrium(3)|large_intestine(3)|lung(3) 9 AGAGGTGGGAGCCACAAGTAG 0.478000 29 9 0 0 1 0 0 NCAM1 4684 broad.mit.edu 37 11 113146050 113146050 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr11:113146050G>A uc021qqp.1 + 19 2956 c.2584G>A c.(2584-2586)Gaa>Aaa p.E862K NCAM1_uc001pnq.3_Missense_Mutation_p.E836K|NCAM1_uc001pnr.3_Missense_Mutation_p.E826K|NCAM1_uc001pns.3_3'UTR|LOC100288346_uc021qqr.1_5'Flank|NCAM1_uc001pnt.3_Missense_Mutation_p.E75K NM_001242607 NP_001229536 P13591 NCAM1_HUMAN Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA. 840 axon guidance|interferon-gamma-mediated signaling pathway Golgi membrane|anchored to membrane|extracellular region|integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 49 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) AGCGCCAGCCGAAGTCAAGAC 0.522000 12 7 0 0 1 0 0 LOC100233156 100233156 broad.mit.edu 37 GL000218.1 40716 40716 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chrGL000218.1:40716C>T uc011mfn.2 - 2 303 c.214G>A c.(214-216)Gtg>Atg p.V72M LOC100233156_uc003jah.2_Missense_Mutation_p.V72M Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA. GCCAGGTTCACGGCGTCACAC 0.672000 12 4 0 0 1 0 0 IHH 3549 broad.mit.edu 37 2 219925171 219925171 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:219925171G>A uc002vjo.2 - 0 68 c.19C>T c.(19-21)Cgg>Tgg p.R7W MIR3131_uc021vxa.1_5'Flank NM_002181 NP_002172 Q14623 IHH_HUMAN Homo sapiens Indian hedgehog (IHH), mRNA. 7 cell-cell signaling|intein-mediated protein splicing|proteolysis extracellular space|plasma membrane cholesterol binding|patched binding|peptidase activity breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 14 Renal(207;0.0915) Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGTCGGGGCCGGAGCCGGGCG 0.781000 10 5 0 0 1 0 0 IQGAP3 128239 broad.mit.edu 37 1 156500019 156500019 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr1:156500019G>A uc001fpf.3 - 33 4357 c.4282C>T c.(4282-4284)Cac>Tac p.H1428Y NM_178229 NP_839943 Q86VI3 IQGA3_HUMAN Homo sapiens IQ motif containing GTPase activating protein 3 (IQGAP3), mRNA. 1428 small GTPase mediated signal transduction intracellular Ras GTPase activator activity|calmodulin binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3) 75 all_hematologic(923;0.088)|Hepatocellular(266;0.158) AGGAGGGAGTGAGCTGTCAGT 0.652000 15 14 0 0 1 0 0 AQP10 89872 broad.mit.edu 37 1 154296186 154296186 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr1:154296186C>T uc001feu.3 + 4 651 c.611C>T c.(610-612)tCc>tTc p.S204F ATP8B2_uc001few.3_5'Flank NM_080429 NP_536354 Q96PS8 AQP10_HUMAN Homo sapiens aquaporin 10 (AQP10), mRNA. 204 response to toxin|transmembrane transport|water transport integral to membrane|plasma membrane transporter activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1) 23 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) CTCGGGTTATCCATGGGTGCC 0.632000 61 35 0 0 1 0 0 HTR7P1 93164 broad.mit.edu 37 12 13155476 13155476 + RNA SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr12:13155476C>T uc010shq.2 + 0 c.2101C>T HEBP1_uc001rbd.3_5'Flank|HTR7P1_uc001rbh.3_Intron Homo sapiens 5-hydroxytryptamine (serotonin) receptor 7 pseudogene 1 (HTR7P1), non-coding RNA. GACAGCCAGACCCTTCTGTCT 0.527000 18 12 0 0 1 0 0 ITGB6 3694 broad.mit.edu 37 2 161052932 161052932 + Splice_Site SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:161052932C>T uc002ubh.2 - 3 157 c.142_splice c.e3-1 p.N48_splice ITGB6_uc010fow.1_Splice_Site|ITGB6_uc010fou.2_Splice_Site_p.N48_splice|ITGB6_uc010zcq.1_Splice_Site_p.N6_splice|ITGB6_uc010fov.1_Splice_Site_p.N48_splice NM_000888 NP_000879 P18564 ITB6_HUMAN Homo sapiens integrin, beta 6 (ITGB6), mRNA. 48 cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development integrin complex receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 GAGTAAAATTCTAAAAAAGAA 0.338000 44 29 0 0 1 0 0 KIAA0430 9665 broad.mit.edu 37 16 15711345 15711345 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr16:15711345G>A uc002ddr.3 - 13 2975 c.2768C>T c.(2767-2769)aCg>aTg p.T923M KIAA0430_uc002ddq.3_Missense_Mutation_p.T757M|KIAA0430_uc010uzv.2_Missense_Mutation_p.T920M|KIAA0430_uc010uzw.2_Missense_Mutation_p.T923M NM_014647 NP_055462 Q9Y4F3 LKAP_HUMAN Homo sapiens KIAA0430 (KIAA0430), transcript variant 1, mRNA. 922 peroxisome RNA binding|nucleotide binding breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1) 40 GATTGCGACCGTGTCTGTTAA 0.493000 33 13 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41450722 41450722 + Silent SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr21:41450722G>A uc002yyq.1 - 25 5055 c.4603C>T c.(4603-4605)Ctg>Ttg p.L1535L DSCAM_uc002yyr.1_Non-coding_Transcript NM_001389 NP_001380 O60469 DSCAM_HUMAN Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA. 1535 Fibronectin type-III 6. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) AGGTCATACAGGATGTAGGAC 0.582000 8 9 0 0 1 0 0 SCEL 8796 broad.mit.edu 37 13 78177213 78177213 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr13:78177213G>A uc001vki.3 + 17 1210 c.1040G>A c.(1039-1041)aGt>aAt p.S347N SCEL_uc010thx.2_Missense_Mutation_p.S325N|SCEL_uc001vkj.3_Missense_Mutation_p.S327N NM_144777 NP_659001 O95171 SCEL_HUMAN Homo sapiens sciellin (SCEL), transcript variant 1, mRNA. 347 16 X approximate tandem repeats. embryo development|keratinocyte differentiation cornified envelope|cytoplasm|membrane protein binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0233) TTTTAAAGAAGTGAAGACCTT 0.289000 10 12 0 0 1 0 0 DSG2 1829 broad.mit.edu 37 18 29102112 29102112 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr18:29102112C>T uc002kwu.4 + 5 778 c.590C>T c.(589-591)tCc>tTc p.S197F NM_001943 NP_001934 Q14126 DSG2_HUMAN Homo sapiens desmoglein 2 (DSG2), mRNA. 197 Cadherin 2. cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(10;0.0068) TCGAAAATTTCCTATAGAATC 0.378000 12 16 0 0 1 0 0 SLFN11 91607 broad.mit.edu 37 17 33690141 33690141 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr17:33690141C>T uc002hjg.4 - 1 933 c.686G>A c.(685-687)aGg>aAg p.R229K SLFN11_uc010ctr.3_Missense_Mutation_p.R229K|SLFN11_uc010ctp.3_Missense_Mutation_p.R229K|SLFN11_uc010ctq.3_Missense_Mutation_p.R229K|SLFN11_uc002hjh.4_Missense_Mutation_p.R229K NM_152270 NP_689483 Q7Z7L1 SLN11_HUMAN Homo sapiens schlafen family member 11 (SLFN11), transcript variant 5, mRNA. 229 nucleus ATP binding autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2) 50 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TGGAATTGTCCTTTTTACATA 0.388000 43 31 0 0 1 0 0 ABCC12 94160 broad.mit.edu 37 16 48162523 48162523 + Silent SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr16:48162523C>T uc002efc.1 - 8 1708 c.1362G>A c.(1360-1362)aaG>aaA p.K454K ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript|ABCC12_uc002efe.1_Silent_p.K454K NM_033226 NP_150229 Q96J65 MRP9_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA. 454 integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1) 90 all_cancers(37;0.0474)|all_lung(18;0.047) TCTGCAATTTCTTTGGGGTAC 0.498000 35 20 0 0 1 0 0 ABCA12 26154 broad.mit.edu 37 2 215809759 215809759 + Missense_Mutation SNP G T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:215809759G>T uc002vew.3 - 48 7529 c.7309C>A c.(7309-7311)Cag>Aag p.Q2437K ABCA12_uc002vev.3_Missense_Mutation_p.Q2119K|ABCA12_uc010zjn.2_Missense_Mutation_p.Q1364K NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA. 2437 ABC transporter 2. cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) CATTTGTTCTGTACTTCTTCT 0.418000 16 5 1.23904e-05 1.26223e-05 1 1 0 COL16A1 1307 broad.mit.edu 37 1 32130825 32130825 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr1:32130825C>T uc001btk.1 - 55 3868 c.3503G>A c.(3502-3504)gGa>gAa p.G1168E COL16A1_uc001btj.1_Missense_Mutation_p.G966E NM_001856 NP_001847 Q07092 COGA1_HUMAN Homo sapiens collagen, type XVI, alpha 1 (COL16A1), mRNA. 1168 Triple-helical region 2 (COL2) with 2 imperfections. cell adhesion|female pregnancy|integrin-mediated signaling pathway collagen type XVI integrin binding|structural molecule activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4) 48 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.059) GCCTGGGAATCCAGGGGGACC 0.567000 12 30 0 0 1 0 0 FAM177B 400823 broad.mit.edu 37 1 222919901 222919901 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr1:222919901G>A uc001hnt.3 + 2 280 c.14G>A c.(13-15)gGt>gAt p.G5D AK094916_uc001hnr.1_Intron|FAM177B_uc009xeb.3_Non-coding_Transcript NM_207468 NP_997351 A6PVY3 F177B_HUMAN Homo sapiens family with sequence similarity 177, member B (FAM177B), mRNA. 5 breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|stomach(1) 8 GAGATTGACGGTTTCCAGCAG 0.383000 23 13 0 0 1 0 0 RUNDC1 146923 broad.mit.edu 37 17 41143231 41143231 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr17:41143231C>T uc002ici.1 + 4 1352 c.1340C>T c.(1339-1341)cCa>cTa p.P447L NM_173079 NP_775102 Q96C34 RUND1_HUMAN Homo sapiens RUN domain containing 1 (RUNDC1), mRNA. 447 RUN. breast(1)|large_intestine(2)|lung(4)|prostate(1) 8 Breast(137;0.00499) BRCA - Breast invasive adenocarcinoma(366;0.161) GCCTCCTCCCCAGGGATGAGC 0.582000 15 17 0 0 1 0 0 MYOM2 9172 broad.mit.edu 37 8 2057191 2057191 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr8:2057191C>T uc003wpx.4 + 24 3187 c.3049C>T c.(3049-3051)Cct>Tct p.P1017S MYOM2_uc011kwi.2_Missense_Mutation_p.P442S NM_003970 NP_003961 P54296 MYOM2_HUMAN Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA. 1017 muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) TGTAGCAATTCCTCTGAAATC 0.408000 15 11 0 0 1 0 0 PTPRB 5787 broad.mit.edu 37 12 70964892 70964892 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr12:70964892G>A uc001swb.4 - 10 2660 c.2630C>T c.(2629-2631)tCc>tTc p.S877F PTPRB_uc010sto.2_Missense_Mutation_p.S877F|PTPRB_uc010stp.2_Missense_Mutation_p.S787F|PTPRB_uc001swc.4_Missense_Mutation_p.S1095F|PTPRB_uc001swa.4_Missense_Mutation_p.S1007F|PTPRB_uc001swd.4_Missense_Mutation_p.S1094F|PTPRB_uc009zrr.2_Missense_Mutation_p.S974F NM_002837 NP_002828 P23467 PTPRB_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA. 877 Fibronectin type-III 10. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.S877F(2)|p.S1095F(1) breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TGGTGTTAGGGAAGTAAATCG 0.448000 25 13 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38595774 38595774 + Silent SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr3:38595774G>A uc021wvo.1 - 25 4861 c.4809C>T c.(4807-4809)atC>atT p.I1603I SCN5A_uc021wvk.1_Intron|SCN5A_uc021wvl.1_Silent_p.I1549I|SCN5A_uc021wvm.1_Silent_p.I1585I|SCN5A_uc021wvn.1_Silent_p.I1602I|SCN5A_uc021wvp.1_Silent_p.I1603I|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_Intron|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Silent_p.I1415I|SCN5A_uc021wvi.1_Silent_p.I1469I NM_198056 NP_932173 Q14524 SCN5A_HUMAN Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA. 1603 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) ACCCACCCACGATGGAGAGGA 0.562000 5 20 0 0 1 0 0 LOC341056 341056 broad.mit.edu 37 11 122888990 122888990 + RNA SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr11:122888990C>T uc010rzt.2 + 0 c.717C>T Homo sapiens SUMO1 activating enzyme subunit 1 pseudogene (LOC341056), non-coding RNA. GTCTTCTGCCCCGTTAAAGAA 0.493000 31 17 0 0 1 0 0 TTLL4 9654 broad.mit.edu 37 2 219617604 219617604 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:219617604C>T uc002viy.3 + 16 3465 c.3095C>T c.(3094-3096)tCc>tTc p.S1032F TTLL4_uc010zkl.1_Missense_Mutation_p.S867F|TTLL4_uc010fvx.3_Missense_Mutation_p.S968F|TTLL4_uc010zkm.1_Missense_Mutation_p.S235F NM_014640 NP_055455 Q14679 TTLL4_HUMAN Homo sapiens tubulin tyrosine ligase-like family, member 4 (TTLL4), mRNA. 1032 protein polyglutamylation cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 39 Renal(207;0.0915) Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101) TCTCATATCTCCTCTCGCTAT 0.448000 68 33 0 0 1 0 0 OR6M1 390261 broad.mit.edu 37 11 123676339 123676339 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr11:123676339G>A uc010rzz.2 - 0 719 c.719C>T c.(718-720)tCt>tTt p.S240F NM_001005325 NP_001005325 Q8NGM8 OR6M1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily M, member 1 (OR6M1), mRNA. 240 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1) 29 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028) AGTGATGTGAGAAGCACAGGT 0.507000 19 7 0 0 1 0 0 ZNF470 388566 broad.mit.edu 37 19 57089032 57089032 + Missense_Mutation SNP T C C TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:57089032T>C uc002qnl.4 + 5 1911 c.1235T>C c.(1234-1236)cTt>cCt p.L412P ZNF470_uc010etn.3_Intron NM_001001668 NP_001001668 Q6ECI4 ZN470_HUMAN Homo sapiens zinc finger protein 470 (ZNF470), mRNA. 412 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.L412L(1) endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 41 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0294) CACATAGGACTTATTCAGCAT 0.418000 29 9 0 0 1 0 0 MIR520G 574484 broad.mit.edu 37 19 54225471 54225471 + RNA SNP A T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:54225471A>T uc021vaj.1 + 0 c.52A>T Homo sapiens microRNA 520g (MIR520G), microRNA. TGTCTGAGAAAAAACAAAGTG 0.413000 37 20 0 0 1 0 0 RUVBL2 10856 broad.mit.edu 37 19 49507628 49507628 + Missense_Mutation SNP T A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:49507628T>A uc002plr.1 + 3 231 c.218T>A c.(217-219)gTc>gAc p.V73D RUVBL2_uc010yab.2_Missense_Mutation_p.V73D|RUVBL2_uc002pls.1_Non-coding_Transcript|RUVBL2_uc010emn.1_Missense_Mutation_p.V28D NM_006666 NP_006657 Q9Y230 RUVB2_HUMAN Homo sapiens RuvB-like 2 (E. coli) (RUVBL2), mRNA. 73 DNA recombination|DNA repair|cellular response to UV|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex|MLL1 complex|NuA4 histone acetyltransferase complex|cytoplasm|membrane|nuclear matrix ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding large_intestine(1)|upper_aerodigestive_tract(1) 2 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047) GGTCGGGCAGTCCTTATTGCT 0.632000 41 29 0 0 1 0 0 VPS13A 23230 broad.mit.edu 37 9 79952424 79952424 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr9:79952424C>T uc004akr.3 + 46 6609 c.6349C>T c.(6349-6351)Ctt>Ttt p.L2117F VPS13A_uc004akp.4_Missense_Mutation_p.L2117F|VPS13A_uc004akq.4_Missense_Mutation_p.L2117F|VPS13A_uc004aks.3_Missense_Mutation_p.L2078F|VPS13A_uc004akt.3_Missense_Mutation_p.L457F NM_033305 NP_150648 Q96RL7 VP13A_HUMAN Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA. 2117 Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 CCGAAATCTTCTTCCTTACAA 0.328000 15 31 0 0 1 0 0 PXDNL 137902 broad.mit.edu 37 8 52336291 52336291 + Splice_Site SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr8:52336291C>T uc003xqu.4 - 14 1740 c.1639_splice c.e14-1 p.E547_splice NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA. 547 Ig-like C2-type 4. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) TGCACACCTTCCTAGGGAGCA 0.398000 10 8 0 0 1 0 0 AKR1B10 57016 broad.mit.edu 37 7 134216685 134216685 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr7:134216685C>T uc003vrr.3 + 2 580 c.260C>T c.(259-261)cCc>cTc p.P87L NM_020299 NP_064695 O60218 AK1BA_HUMAN Homo sapiens aldo-keto reductase family 1, member B10 (aldose reductase) (AKR1B10), mRNA. 87 P -> S (in dbSNP:rs2303312). cellular aldehyde metabolic process|digestion|steroid metabolic process cytoplasm aldo-keto reductase (NADP) activity|protein binding NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5) 20 TTTGAGAGACCCCTTGTGAGG 0.463000 52 23 0 0 1 0 0 KLK15 55554 broad.mit.edu 37 19 51331041 51331041 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:51331041C>T uc002ptl.3 - 1 105 c.74G>A c.(73-75)gGt>gAt p.G25D KLK15_uc002ptm.3_Missense_Mutation_p.G25D|KLK15_uc002ptn.3_Missense_Mutation_p.G25D|KLK15_uc002pto.3_Missense_Mutation_p.G24D|KLK15_uc010ych.2_Non-coding_Transcript|KLK15_uc010yci.2_Missense_Mutation_p.G24D|KLK15_uc010eod.3_Non-coding_Transcript NM_017509 NP_059979 Q9H2R5 KLK15_HUMAN Homo sapiens kallikrein-related peptidase 15 (KLK15), transcript variant 4, mRNA. 25 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1) 24 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143) ACACTCGTCACCTTCCAGCAA 0.582000 33 10 0 0 1 0 0 MAP2K1 5604 broad.mit.edu 37 15 66729162 66729162 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B 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 26 25 0 0 1 0 0 KGFLP2 654466 broad.mit.edu 37 9 41962611 41962611 + RNA SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr9:41962611C>T uc004aca.4 - 2 c.898G>A Homo sapiens keratinocyte growth factor-like protein 2 (KGFLP2), non-coding RNA. TGTTTTTTTTCCTCTTACAGG 0.373000 14 3 0 0 1 0 0 SEMA3A 10371 broad.mit.edu 37 7 83823866 83823866 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr7:83823866C>T uc003uhz.3 - 0 352 c.37G>A c.(37-39)Gga>Aga p.G13R NM_006080 NP_006071 Q14563 SEM3A_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A (SEMA3A), mRNA. 13 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 AGTAATACTCCCCAGAAAAGA 0.418000 83 43 0 0 1 0 0 FRYL 285527 broad.mit.edu 37 4 48604128 48604128 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr4:48604128G>A uc003gyh.1 - 12 1549 c.944C>T c.(943-945)cCa>cTa p.P315L FRYL_uc003gyk.3_Missense_Mutation_p.P315L NM_015030 NP_055845 O94915 FRYL_HUMAN Homo sapiens FRY-like (FRYL), mRNA. 315 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 GGTAATTAGTGGATATAAAGC 0.303000 19 15 0 0 1 0 0 MERTK 10461 broad.mit.edu 37 2 112686862 112686862 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:112686862G>A uc002thk.1 + 1 349 c.227G>A c.(226-228)gGa>gAa p.G76E MERTK_uc002thl.1_5'UTR|Metazoa_SRP_uc021vmv.1_5'Flank NM_006343 NP_006334 Q12866 MERTK_HUMAN Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA. 76 cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10) 46 CCACATACAGGAAACGTAGCC 0.507000 24 14 0 0 1 0 0 CFHR1 3078 broad.mit.edu 37 1 196796131 196796131 + Silent SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr1:196796131C>T uc001gtn.3 + 2 540 c.426C>T c.(424-426)tcC>tcT p.S142S CFH_uc021pgt.1_Intron|CFHR1_uc001gtm.3_Intron NM_002113 NP_002104 Q03591 FHR1_HUMAN Homo sapiens complement factor H-related 1 (CFHR1), mRNA. 142 Sushi 2. complement activation extracellular space NS(1)|kidney(1)|large_intestine(2)|lung(7) 11 AATGCAGGTCCACTGGTAAGT 0.373000 41 16 0 0 1 0 0 ZNF804A 91752 broad.mit.edu 37 2 185803655 185803655 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:185803655C>T uc002uph.3 + 3 4126 c.3532C>T c.(3532-3534)Cat>Tat p.H1178Y NM_194250 NP_919226 Q7Z570 Z804A_HUMAN Homo sapiens zinc finger protein 804A (ZNF804A), mRNA. 1178 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 TTCCGTTCTTCATCCTAGCCA 0.512000 70 51 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168102954 168102954 + Missense_Mutation SNP A C C TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:168102954A>C uc002udx.3 + 8 5141 c.5052A>C c.(5050-5052)aaA>aaC p.K1684N XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.K1509N|XIRP2_uc010fpq.3_Missense_Mutation_p.K1462N|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 1509 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 AAGATGAAAAAGGAGATATTA 0.353000 15 12 0 0 1 0 0 GDPD5 81544 broad.mit.edu 37 11 75154313 75154313 + Silent SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr11:75154313G>A uc001owo.4 - 11 1353 c.816C>T c.(814-816)ttC>ttT p.F272F GDPD5_uc001owp.4_Silent_p.F272F|GDPD5_uc001own.4_Silent_p.F27F|GDPD5_uc009yuc.3_Silent_p.F134F|GDPD5_uc009yud.3_Silent_p.F153F|GDPD5_uc009yue.1_Silent_p.F160F NM_030792 NP_110419 Q8WTR4 GDPD5_HUMAN Homo sapiens glycerophosphodiester phosphodiesterase domain containing 5 (GDPD5), mRNA. 272 GDPD. glycerol metabolic process|lipid metabolic process|nervous system development endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm glycerophosphodiester phosphodiesterase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2) 20 CATGCATGAGGAAGGGCACGC 0.657000 10 9 0 0 1 0 0 SHCBP1 79801 broad.mit.edu 37 16 46638279 46638279 + Missense_Mutation SNP A T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr16:46638279A>T uc002eec.4 - 5 824 c.784T>A c.(784-786)Tta>Ata p.L262I NM_024745 NP_079021 Q8NEM2 SHCBP_HUMAN Homo sapiens SHC SH2-domain binding protein 1 (SHCBP1), mRNA. 262 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213) CTCAGATTTAAAAATTTCCTG 0.383000 47 40 0 0 1 0 0 SLC26A8 116369 broad.mit.edu 37 6 35965560 35965560 + Silent SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr6:35965560G>A uc003olm.3 - 4 693 c.582C>T c.(580-582)tcC>tcT p.S194S SLC26A8_uc003oll.3_Silent_p.S194S|SLC26A8_uc003oln.3_Silent_p.S194S NM_001193476 NP_443193 Q96RN1 S26A8_HUMAN Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA. 194 cell differentiation|meiosis|multicellular organismal development|spermatogenesis integral to membrane|plasma membrane anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 46 CCACACTCAAGGATTTATTAT 0.438000 33 14 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9067346 9067346 + Silent SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:9067346G>A uc002mkp.3 - 2 20304 c.20100C>T c.(20098-20100)tcC>tcT p.S6700S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 6702 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 GGCCTGGAATGGATGTTCTTC 0.483000 83 60 0 0 1 0 0 ABCA12 26154 broad.mit.edu 37 2 215848503 215848503 + Missense_Mutation SNP C T T rs78964730 byFrequency TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:215848503C>T uc002vew.3 - 28 4470 c.4250G>A c.(4249-4251)cGg>cAg p.R1417Q ABCA12_uc002vev.3_Missense_Mutation_p.R1099Q|ABCA12_uc010zjn.2_Missense_Mutation_p.R344Q NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA. 1417 ABC transporter 1. cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) CATGTTCTTCCGTACCGTGTG 0.453000 53 24 0 0 1 0 0 MAGEC3 139081 broad.mit.edu 37 X 140985038 140985038 + Silent SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chrX:140985038C>T uc011mwp.2 + 6 1494 c.1494C>T c.(1492-1494)ttC>ttT p.F498F MAGEC3_uc004fbs.3_Silent_p.F200F|MAGEC3_uc010nsj.3_Silent_p.F200F|MAGEC3_uc022cfh.1_Silent_p.F200F NM_138702 NP_619647 Q8TD91 MAGC3_HUMAN Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA. 498 MAGE 2. p.F498F(2)|p.F200F(1) NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2) 69 Acute lymphoblastic leukemia(192;6.56e-05) CCATGATCTTCGGGAAAGCCC 0.423000 14 32 0 0 1 0 0 CLCA1 1179 broad.mit.edu 37 1 86934746 86934746 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr1:86934746G>A uc001dlt.3 + 0 352 c.92G>A c.(91-93)gGc>gAc p.G31D CLCA1_uc001dls.1_Missense_Mutation_p.G31D NM_001285 NP_001276 A8K7I4 CLCA1_HUMAN Homo sapiens chloride channel accessory 1 (CLCA1), mRNA. 31 calcium ion transport extracellular space|integral to plasma membrane chloride channel activity NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Lung NSC(277;0.239) all cancers(265;0.0249)|Epithelial(280;0.0476) AACAACAATGGCTATGAAGGC 0.398000 14 22 0 0 1 0 0 ODZ2 57451 broad.mit.edu 37 5 167420120 167420120 + Nonsense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr5:167420120G>A uc010jjd.3 + 4 1119 c.1119G>A c.(1117-1119)tgG>tgA p.W373* ODZ2_uc021yhi.1_Nonsense_Mutation_p.W303*|ODZ2_uc003lzq.2_Nonsense_Mutation_p.W252*|ODZ2_uc003lzr.4_Nonsense_Mutation_p.W182* NM_001122679 NP_001116151 Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA. NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2) 122 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) ACTGCAGCTGGAAATGTGCTG 0.567000 9 22 0 0 1 0 0 PRB1 5542 broad.mit.edu 37 12 11506602 11506602 + Silent SNP T C C TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr12:11506602T>C uc001qzw.1 - 2 472 c.435A>G c.(433-435)ggA>ggG p.G145G PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron NM_005039 NP_005030 P04280 PRP1_HUMAN Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA. 145 15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR]. Missing (in allele M).|Missing (in allele S).|Missing (in clone CP-4).|Missing (in clone CP-5). extracellular region NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(49;0.185) GGGACTTGTCTCCTTGTGGGG 0.607000 171 4 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9061307 9061307 + Silent SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:9061307G>A uc002mkp.3 - 2 26343 c.26139C>T c.(26137-26139)atC>atT p.I8713I NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 8715 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.I8713I(3)|p.I4346I(1) 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 GAGAGGTACTGATCTCCCTTA 0.493000 19 12 0 0 1 0 0 MYH15 22989 broad.mit.edu 37 3 108189571 108189571 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr3:108189571C>T uc003dxa.1 - 13 1474 c.1417G>A c.(1417-1419)Gac>Aac p.D473N NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN Homo sapiens myosin, heavy chain 15 (MYH15), mRNA. 473 Myosin head-like. myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 CCAGTGATGTCAAGAATGCCA 0.413000 18 15 0 0 1 0 0 PLAG1 5324 broad.mit.edu 37 8 57079381 57079381 + Silent SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr8:57079381G>A uc003xsq.4 - 2 1375 c.924C>T c.(922-924)atC>atT p.I308I PLAG1_uc003xsr.4_Silent_p.I308I|PLAG1_uc010lyi.3_Silent_p.I308I|PLAG1_uc010lyj.3_Silent_p.I226I|PLAG1_uc022aur.1_Silent_p.I226I NM_001114635 NP_001108107 Q6DJT9 PLAG1_HUMAN Homo sapiens pleiomorphic adenoma gene 1 (PLAG1), transcript variant 3, mRNA. 308 Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3) breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125) Epithelial(17;0.00179)|all cancers(17;0.0125) GTAAAGTTGTGATCATTTGGT 0.428000 T """TCEA1, LIFR, CTNNB1, CHCHD7""" salivary adenoma 75 50 0 0 1 0 0 INO80 54617 broad.mit.edu 37 15 41272544 41272544 + Silent SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr15:41272544G>A uc001zni.3 - 35 4761 c.4548C>T c.(4546-4548)tcC>tcT p.S1516S INO80_uc010ucu.2_Non-coding_Transcript|INO80_uc021sjj.1_Intron NM_017553 NP_060023 Q9ULG1 INO80_HUMAN Homo sapiens INO80 homolog (S. cerevisiae) (INO80), mRNA. 1516 Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2. UV-damage excision repair|cell division|cellular response to UV|cellular response to ionizing radiation|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of DNA replication involved in S phase|positive regulation of cell growth|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly Ino80 complex|microtubule ATP binding|ATPase activity|DNA binding|DNA helicase activity|actin binding|alpha-tubulin binding NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 TGCTCAAAGGGGAACTCAAAG 0.557000 27 15 0 0 1 0 0 RIMS1 22999 broad.mit.edu 37 6 72889537 72889537 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr6:72889537G>A uc003pga.3 + 4 808 c.731G>A c.(730-732)gGg>gAg p.G244E RIMS1_uc011dyb.2_5'Flank|RIMS1_uc003pgc.3_5'Flank|RIMS1_uc003pgb.4_5'Flank NM_014989 NP_055804 Q86UR5 RIMS1_HUMAN Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA. 244 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane Rab GTPase binding|metal ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 102 all_epithelial(107;0.179)|all_hematologic(105;0.212) AGGAGCAAAGGGGCTGAGCCC 0.587000 13 4 0 0 1 0 0 NLRP4 147945 broad.mit.edu 37 19 56369832 56369832 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:56369832G>A uc002qmd.4 + 2 1495 c.1073G>A c.(1072-1074)gGa>gAa p.G358E NLRP4_uc002qmf.3_Missense_Mutation_p.G283E|NLRP4_uc010etf.3_Missense_Mutation_p.G189E NM_134444 NP_604393 Q96MN2 NALP4_HUMAN Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA. 358 NACHT. ATP binding p.G358R(1) breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) ATGCAGAAAGGAAAAGACCTG 0.512000 16 4 0 0 1 0 0 DOPEY2 9980 broad.mit.edu 37 21 37603385 37603385 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr21:37603385C>T uc002yvg.3 + 13 2382 c.2303C>T c.(2302-2304)tCc>tTc p.S768F DOPEY2_uc011aeb.2_Missense_Mutation_p.S768F NM_005128 NP_005119 Q9Y3R5 DOP2_HUMAN Homo sapiens dopey family member 2 (DOPEY2), mRNA. 768 Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport Golgi membrane autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 GTCTACCTGTCCGAGGAAGAG 0.612000 50 18 0 0 1 0 0 MYF6 4618 broad.mit.edu 37 12 81101802 81101802 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr12:81101802G>A uc001szf.2 + 0 395 c.304G>A c.(304-306)Gaa>Aaa p.E102K NM_002469 NP_002460 P23409 MYF6_HUMAN Homo sapiens myogenic factor 6 (herculin) (MYF6), mRNA. 102 muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1) 26 CACCCTGCGCGAAAGGAGGAG 0.607000 36 23 0 0 1 0 0 ZNF107 51427 broad.mit.edu 37 7 64168143 64168143 + Silent SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr7:64168143G>A uc003ttd.3 + 6 2247 c.1461G>A c.(1459-1461)aaG>aaA p.K487K ZNF107_uc003tte.3_Silent_p.K487K NM_016220 NP_057304 Q9UII5 ZN107_HUMAN Homo sapiens zinc finger protein 107 (ZNF107), transcript variant 1, mRNA. 487 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1) 37 Lung NSC(55;0.00948)|all_lung(88;0.0249) CTAAACATAAGAGAATTCATA 0.333000 6 4 0 0 1 0 0 SDCCAG8 10806 broad.mit.edu 37 1 243471382 243471382 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr1:243471382C>T uc001hzw.3 + 7 1001 c.832C>T c.(832-834)Cgt>Tgt p.R278C SDCCAG8_uc010pyk.2_Missense_Mutation_p.R133C|SDCCAG8_uc010pyl.2_Missense_Mutation_p.R90C|SDCCAG8_uc001hzx.3_Missense_Mutation_p.R90C NM_006642 NP_006633 Q86SQ7 SDCG8_HUMAN Homo sapiens serologically defined colon cancer antigen 8 (SDCCAG8), mRNA. 278 Sufficient for homodimerization (By similarity). G2/M transition of mitotic cell cycle|establishment of cell polarity|tube formation cell-cell junction|centriole|cytosol protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218) all_cancers(173;0.00395) all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392) COAD - Colon adenocarcinoma(196;0.145) TACTTGTAACCGTGTTGGTGG 0.378000 56 40 0 0 1 0 0 C19orf29-AS1 404665 broad.mit.edu 37 19 3612182 3612182 + Missense_Mutation SNP G A A rs147636108 by1000genomes TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:3612182G>A uc021umw.1 + 2 648 c.391G>A c.(391-393)Gat>Aat p.D131N C19orf29_uc010xho.2_Silent_p.I131I|C19orf29_uc010dtn.3_Silent_p.I520I|C19orf29_uc002lyh.3_Silent_p.I672I|C19orf29_uc002lyi.4_Silent_p.I672I|C19orf29_uc010dto.3_Non-coding_Transcript Homo sapiens C19orf29 antisense RNA 1 (non-protein coding) (C19orf29-AS1), non-coding RNA. ATCCCTGCACGATCTTGGGCG 0.582000 102 76 0 0 1 0 0 LENG1 79165 broad.mit.edu 37 19 54660640 54660641 + Missense_Mutation DNP GG AA AA TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:54660640_54660641GG>AA uc002qdm.3 - 2 448_449 c.435_436CC>TT c.(433-438)gcccca>gcTTca p.P146S NM_024316 NP_077292 Q96BZ8 LENG1_HUMAN Homo sapiens leukocyte receptor cluster (LRC) member 1 (LENG1), mRNA. 146 breast(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1) 8 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) TTCTCATCTGGGGCTGGGCCGG 0.649000 49 39 0 0 1 0 0 CEACAM8 1088 broad.mit.edu 37 19 43098946 43098946 + Missense_Mutation SNP C T T rs143763173 TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:43098946C>T uc002oud.2 - 0 137 c.35G>A c.(34-36)cGc>cAc p.R12H AK311181_uc010eif.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron NM_001816 NP_001807 P31997 CEAM8_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 8 (CEACAM8), mRNA. 12 immune response anchored to membrane|extracellular space|integral to plasma membrane endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 16 Prostate(69;0.00899) CCAGGGGATGCGCCATCTGCA 0.612000 135 4 0 0 1 0 0 CCDC54 84692 broad.mit.edu 37 3 107097078 107097078 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr3:107097078C>T uc003dwi.1 + 0 891 c.644C>T c.(643-645)cCc>cTc p.P215L NM_032600 NP_115989 Q8NEL0 CCD54_HUMAN Homo sapiens coiled-coil domain containing 54 (CCDC54), mRNA. 215 p.P215H(2) NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 19 ACAATTTCTCCCCAAATGAAA 0.393000 20 18 0 0 1 0 0 HERC2 8924 broad.mit.edu 37 15 28483301 28483301 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr15:28483301G>A uc001zbj.3 - 24 3917 c.3811C>T c.(3811-3813)Cgg>Tgg p.R1271W NM_004667 NP_004658 O95714 HERC2_HUMAN Homo sapiens hect domain and RLD 2 (HERC2), mRNA. 1271 Cytochrome b5 heme-binding. DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding p.R1271L(1) NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) ATGGATTCCCGGGTGTCTTCA 0.493000 41 23 0 0 1 0 0 TRIM54 57159 broad.mit.edu 37 2 27521556 27521556 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:27521556G>A uc002rjo.3 + 1 593 c.290G>A c.(289-291)cGa>cAa p.R97Q TRIM54_uc002rjn.3_Missense_Mutation_p.R97Q NM_187841 NP_912730 Q9BYV2 TRI54_HUMAN Homo sapiens tripartite motif containing 54 (TRIM54), transcript variant 2, mRNA. 97 cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization microtubule|sarcomere signal transducer activity|zinc ion binding p.R81Q(1) cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGCCTGCAGCGAAACCTGCTA 0.572000 14 14 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179623779 179623779 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:179623779C>T uc021vsy.1 - 43 10460 c.10235G>A c.(10234-10236)gGa>gAa p.G3412E TTN_uc021vsz.1_Missense_Mutation_p.G3366E|TTN_uc021vta.1_Missense_Mutation_p.G3366E|TTN_uc021vtb.1_Missense_Mutation_p.G3366E|TTN_uc002umz.1_Missense_Mutation_p.G73E|TTN_uc002unb.2_Missense_Mutation_p.G3412E NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 4356 Ig-like 20. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CGTGTAAGTTCCTTCATCTTC 0.398000 32 25 0 0 1 0 0 DNMT3L 29947 broad.mit.edu 37 21 45670725 45670725 + Nonsense_Mutation SNP C A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr21:45670725C>A uc002zeg.1 - 9 1361 c.877G>T c.(877-879)Gaa>Taa p.E293* DNMT3L_uc002zeh.1_Nonsense_Mutation_p.E293* NM_175867 NP_787063 Q9UJW3 DNM3L_HUMAN Homo sapiens DNA (cytosine-5-)-methyltransferase 3-like (DNMT3L), transcript variant 2, mRNA. 293 DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis cytosol enzyme activator activity|enzyme binding|metal ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3) 11 Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781) TCCAGGTCTTCCTTGTTCAGC 0.642000 70 27 4.72057e-08 4.83478e-08 1 1 0 CYP3A4 1576 broad.mit.edu 37 7 99375663 99375663 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr7:99375663C>T uc003urv.2 - 2 313 c.206G>A c.(205-207)gGa>gAa p.G69E CYP3A4_uc003urw.2_Missense_Mutation_p.G69E|CYP3A4_uc011kiz.2_Missense_Mutation_p.G69E NM_017460 NP_059488 P08684 CP3A4_HUMAN Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 4 (CYP3A4), transcript variant 1, mRNA. 69 alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process cell surface|endoplasmic reticulum membrane|integral to membrane|microsome albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2) 18 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909) CCACACTTTTCCATACTTTTT 0.388000 36 19 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77764978 77764978 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr8:77764978G>A uc003yau.2 + 9 6208 c.5821G>A c.(5821-5823)Gaa>Aaa p.E1941K ZFHX4_uc003yaw.1_Missense_Mutation_p.E1896K NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA. 1896 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.G1940G(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) TGGTGAAGGCGAAAACACTGA 0.383000 HNSCC(33;0.089) 20 8 0 0 1 0 0 GCAT 23464 broad.mit.edu 37 22 38211173 38211173 + Missense_Mutation SNP C T T rs142152598 TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr22:38211173C>T uc003aua.2 + 4 758 c.695C>T c.(694-696)tCc>tTc p.S232F GCAT_uc003atz.3_Missense_Mutation_p.S206F NM_001171690 NP_001165161 O75600 KBL_HUMAN Homo sapiens glycine C-acetyltransferase (GCAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 206 biosynthetic process|cellular amino acid metabolic process glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups p.S206F(1) haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1) 12 Melanoma(58;0.045) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) GGGGCCTTTTCCATGGATGGC 0.587000 24 15 0 0 1 0 0 TPTE2 93492 broad.mit.edu 37 13 20010427 20010427 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr13:20010427C>T uc001umd.3 - 15 1266 c.1055G>A c.(1054-1056)gGa>gAa p.G352E TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Missense_Mutation_p.G241E|TPTE2_uc001ume.3_Missense_Mutation_p.G275E|TPTE2_uc009zzm.3_Missense_Mutation_p.G23E|TPTE2_uc010tcm.2_Non-coding_Transcript|TPTE2_uc010tcl.2_Missense_Mutation_p.G23E NM_199254 NP_954863 Q6XPS3 TPTE2_HUMAN Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA. 352 Phosphatase tensin-type. endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) TCGCCTTTCTCCAAAATAATA 0.368000 17 9 0 0 1 0 0 ABHD4 63874 broad.mit.edu 37 14 23072966 23072966 + Nonsense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr14:23072966C>T uc001wgm.3 + 3 691 c.622C>T c.(622-624)Cga>Tga p.R208* ABHD4_uc010tmz.1_3'UTR|ABHD4_uc010tna.1_Nonsense_Mutation_p.R208*|ABHD4_uc010tnb.2_Intron NM_022060 NP_071343 Q8TB40 ABHD4_HUMAN Homo sapiens abhydrolase domain containing 4 (ABHD4), mRNA. 208 lipid catabolic process hydrolase activity p.R208Q(1) breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1) 14 all_cancers(95;5.49e-05) GBM - Glioblastoma multiforme(265;0.0153) GGCTGTTCTTCGAGTAGCTGG 0.532000 24 23 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140434522 140434523 + Missense_Mutation DNP GG AA AA TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr7:140434522_140434523GG>AA uc003vwc.4 - 17 2236_2237 c.2175_2176CC>TT c.(2173-2178)caccgc>caTTgc p.R726C NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 726 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 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) GATGCACTGCGGTGAATTTTTG 0.401000 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 81 56 0 0 1 0 0 PNLIP 5406 broad.mit.edu 37 10 118320038 118320038 + Splice_Site SNP T G G TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr10:118320038T>G uc001lcm.3 + 11 1212 c.1169_splice c.e11+2 p.K390_splice NM_000936 NP_000927 P16233 LIPP_HUMAN Homo sapiens pancreatic lipase (PNLIP), mRNA. 390 PLAT. lipid catabolic process|retinoid metabolic process|steroid metabolic process extracellular region retinyl-palmitate esterase activity|triglyceride lipase activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 43 all cancers(201;0.0131) Bentiromide(DB00522)|Orlistat(DB01083) AATTTTCAAGTGAGTAAAATA 0.393000 4 8 0 0 1 0 0 SH3RF3 344558 broad.mit.edu 37 2 109964334 109964334 + Nonsense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:109964334C>T uc010ywt.1 + 1 778 c.778C>T c.(778-780)Cag>Tag p.Q260* NM_001099289 NP_001092759 Q8TEJ3 SH3R3_HUMAN Homo sapiens SH3 domain containing ring finger 3 (SH3RF3), mRNA. 260 SH3 2. zinc ion binding endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2) 18 CGCCCCGCCCCAGGGAAAAGC 0.597000 4 5 0 0 1 0 0 SARS2 54938 broad.mit.edu 37 19 39406325 39406325 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:39406325G>A uc010xup.1 - 16 1644 c.1484C>T c.(1483-1485)cCt>cTt p.P495L SARS2_uc002ojz.2_Missense_Mutation_p.P303L|SARS2_uc002oka.2_Missense_Mutation_p.P493L|SARS2_uc010xuq.1_Missense_Mutation_p.P493L NM_001145901 NP_001139373 Q9NP81 SYSM_HUMAN Homo sapiens seryl-tRNA synthetase 2, mitochondrial (SARS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 493 seryl-tRNA aminoacylation mitochondrial matrix ATP binding|protein binding|serine-tRNA ligase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 15 all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) CACGTGGGTAGGGGCTGTGAT 0.652000 33 23 0 0 1 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121651007 121651007 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr7:121651007C>T uc003vjy.3 + 11 2302 c.1907C>T c.(1906-1908)tCa>tTa p.S636L PTPRZ1_uc011knt.2_Missense_Mutation_p.S636L|PTPRZ1_uc003vjz.3_Missense_Mutation_p.S636L NM_002851 NP_002842 P23471 PTPRZ_HUMAN Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA. 636 central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity p.S636T(1) NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 GATTCAACTTCATCAGGTTCA 0.418000 18 16 0 0 1 0 0 IFNA16 3449 broad.mit.edu 37 9 21216873 21216873 + Silent SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr9:21216873C>T uc003zor.1 - 0 438 c.432G>A c.(430-432)agG>agA p.R144R IFNA14_uc003zoo.1_Intron NM_002173 NP_002164 P05015 IFN16_HUMAN Homo sapiens interferon, alpha 16 (IFNA16), mRNA. 144 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1) 13 Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116) GAAAGTATTTCCTCACAGCCA 0.458000 43 68 0 0 1 0 0 C20orf26 26074 broad.mit.edu 37 20 20226842 20226842 + Silent SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr20:20226842G>A uc002wru.3 + 18 2256 c.2142G>A c.(2140-2142)agG>agA p.R714R C20orf26_uc010zse.2_Silent_p.R694R|C20orf26_uc002wrw.3_Non-coding_Transcript|C20orf26_uc002wrv.3_Silent_p.R70R NM_015585 NP_056400 Q8NHU2 CT026_HUMAN Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA. 714 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) CTGAACAAAGGAAATTTTTAG 0.343000 31 8 0 0 1 0 0 MINA 84864 broad.mit.edu 37 3 97686114 97686114 + Silent SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr3:97686114C>T uc003drz.1 - 1 830 c.324G>A c.(322-324)ggG>ggA p.G108G MINA_uc003dsa.1_Silent_p.G108G|MINA_uc003dsb.1_Silent_p.G108G|MINA_uc003dsc.1_Silent_p.G108G|MINA_uc010hpa.1_Non-coding_Transcript|MINA_uc010hpb.1_Intron NM_001042533 NP_694822 Q8IUF8 MINA_HUMAN Homo sapiens MYC induced nuclear antigen (MINA), transcript variant 1, mRNA. 108 ribosome biogenesis cytoplasm|nucleolus breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1) 13 CCTTCTTCTTCCCATTGACAC 0.438000 139 78 0 0 1 0 0 CD163L1 283316 broad.mit.edu 37 12 7586024 7586024 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr12:7586024C>T uc010sge.2 - 2 417 c.391G>A c.(391-393)Gaa>Aaa p.E131K CD163L1_uc001qsy.3_Missense_Mutation_p.E131K NM_174941 NP_777601 Q9NR16 C163B_HUMAN Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA. 131 SRCR 1. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 CTTCCCCATTCCCGGTGTTGA 0.438000 48 21 0 0 1 0 0 CCDC87 55231 broad.mit.edu 37 11 66359343 66359343 + Silent SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr11:66359343G>A uc001oiq.4 - 0 1212 c.1144C>T c.(1144-1146)Ctg>Ttg p.L382L CCS_uc001oir.3_5'Flank NM_018219 NP_060689 Q9NVE4 CCD87_HUMAN Homo sapiens coiled-coil domain containing 87 (CCDC87), mRNA. 382 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 ACAACCCCCAGGAGAGGAGGC 0.592000 36 24 0 0 1 0 0 CD200R1 131450 broad.mit.edu 37 3 112648256 112648256 + Silent SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr3:112648256G>A uc003dzj.1 - 3 534 c.301C>T c.(301-303)Ctg>Ttg p.L101L CD200R1_uc003dzk.1_Silent_p.L78L|CD200R1_uc011bhx.1_Silent_p.L56L|CD200R1_uc003dzl.1_Silent_p.L101L|CD200R1_uc003dzm.1_Silent_p.L78L NM_138806 NP_620161 Q8TD46 MO2R1_HUMAN Homo sapiens CD200 receptor 1 (CD200R1), transcript variant 1, mRNA. 78 Ig-like V-type. interspecies interaction between organisms|regulation of immune response extracellular region|integral to membrane|plasma membrane receptor activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 26 TGGCCTCTCAGGATTATTTCC 0.423000 30 16 0 0 1 0 0 GABRA2 2555 broad.mit.edu 37 4 46312213 46312213 + Missense_Mutation SNP G A A rs138677063 TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr4:46312213G>A uc011bzc.1 - 4 783 c.371C>T c.(370-372)tCa>tTa p.S124L GABRA2_uc003gxc.3_Missense_Mutation_p.S179L|GABRA2_uc010igc.2_Missense_Mutation_p.S179L|GABRA2_uc003gxe.3_Missense_Mutation_p.S179L P47869 GBRA2_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 2 (GABRA2), transcript variant 1, mRNA. 179 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity p.S179L(1) NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 56 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CAGAGGACATGAATGAGCATC 0.388000 21 30 0 0 1 0 0 PLCB2 5330 broad.mit.edu 37 15 40585785 40585785 + Silent SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr15:40585785C>T uc001zld.3 - 19 2503 c.2202G>A c.(2200-2202)aaG>aaA p.K734K PLCB2_uc001zlc.3_5'Flank|PLCB2_uc010bbo.3_Silent_p.K730K|PLCB2_uc010ucm.2_Silent_p.K734K NM_004573 NP_004564 Q00722 PLCB2_HUMAN Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA. 734 C2. activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3) 39 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) AGGGCTCCTCCTTCCAGACAG 0.527000 54 40 0 0 1 0 0 IQCG 84223 broad.mit.edu 37 3 197659062 197659062 + Silent SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr3:197659062G>A uc003fyo.3 - 4 773 c.627C>T c.(625-627)ttC>ttT p.F209F IQCG_uc003fyn.3_Silent_p.F111F|IQCG_uc003fyp.3_Silent_p.F209F|IQCG_uc003fyq.4_Silent_p.F209F NM_001134435 NP_115639 Q9H095 IQCG_HUMAN Homo sapiens IQ motif containing G (IQCG), transcript variant 2, mRNA. 209 autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.149) TGATGTCATAGAAATGCATTT 0.393000 15 28 0 0 1 0 0 ZNF415 55786 broad.mit.edu 37 19 53613010 53613010 + Silent SNP A G G TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:53613010A>G uc002qax.3 - 6 781 c.432T>C c.(430-432)ttT>ttC p.F144F ZNF415_uc010yds.2_Silent_p.F96F|ZNF415_uc010ydt.2_Silent_p.F96F|ZNF415_uc002qau.3_Silent_p.F83F|ZNF415_uc002qav.3_Silent_p.F108F|ZNF415_uc002qaw.3_Silent_p.F96F|ZNF415_uc002qay.3_Silent_p.F83F|ZNF415_uc002qaz.3_Silent_p.F144F|ZNF415_uc002qba.3_5'UTR Q09FC8 ZN415_HUMAN Homo sapiens zinc finger protein 415 (ZNF415), transcript variant 4, non-coding RNA. 144 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleolus DNA binding|zinc ion binding breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 GBM - Glioblastoma multiforme(134;0.0191) ACTGACAGTCAAAGTCGTGTA 0.398000 40 19 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139180190 139180190 + Nonsense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr8:139180190C>T uc003yuy.3 - 11 1377 c.1206G>A c.(1204-1206)tgG>tgA p.W402* FAM135B_uc003yux.3_Nonsense_Mutation_p.W303*|FAM135B_uc003yuz.3_Non-coding_Transcript NM_015912 NP_056996 Q49AJ0 F135B_HUMAN Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA. 402 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GCAGGGTGTTCCAATCGCCGT 0.552000 HNSCC(54;0.14) 58 35 0 0 1 0 0 MASP1 5648 broad.mit.edu 37 3 186938046 186938046 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr3:186938046C>T uc003frh.2 - 15 2303 c.1913G>A c.(1912-1914)gGa>gAa p.G638E NM_001879 NP_001870 P48740 MASP1_HUMAN Homo sapiens mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) (MASP1), transcript variant 1, mRNA. 638 Peptidase S1. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 60 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) GGCGTCCTTTCCCCCTAGGTG 0.537000 OREG0015972 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 11 0 0 1 0 0 RALGAPA1 253959 broad.mit.edu 37 14 36155840 36155840 + Missense_Mutation SNP G C C TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr14:36155840G>C uc001wtj.3 - 17 2858 c.2467C>G c.(2467-2469)Cct>Gct p.P823A RALGAPA1_uc001wti.3_Missense_Mutation_p.P823A|RALGAPA1_uc010tpv.2_Intron|RALGAPA1_uc010tpw.1_Missense_Mutation_p.P870A|RALGAPA1_uc001wtk.1_Missense_Mutation_p.P721A NM_194301 NP_919277 Q6GYQ0 RGPA1_HUMAN Homo sapiens Ral GTPase activating protein, alpha subunit 1 (catalytic) (RALGAPA1), transcript variant 2, mRNA. 823 activation of Ral GTPase activity cytosol|mitochondrion|nucleus Ral GTPase activator activity|protein heterodimerization activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CTATTAAGAGGAGGCAGTTTT 0.353000 3 7 0 0 1 0 0 GRHL1 29841 broad.mit.edu 37 2 10091971 10091972 + Missense_Mutation DNP GG AA AA TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:10091971_10091972GG>AA uc002raa.3 + 0 180_181 c.9_10GG>AA c.(7-12)caggag>caAAag p.E4K GRHL1_uc002rab.3_Non-coding_Transcript|GRHL1_uc002rad.3_5'UTR|GRHL1_uc010yjb.2_5'UTR NM_198182 NP_937825 Q9NZI5 GRHL1_HUMAN Homo sapiens grainyhead-like 1 (Drosophila) (GRHL1), mRNA. 4 Transcription activation. cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi apparatus|nucleus DNA binding cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 17 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246) CGATGACACAGGAGTACGACAA 0.752000 16 8 0 0 1 0 0 OR5H6 79295 broad.mit.edu 37 3 97983875 97983875 + Silent SNP G A A rs146320551 TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr3:97983875G>A uc003dsi.1 + 0 747 c.747G>A c.(745-747)ggG>ggA p.G249G NM_001005479 NP_001005479 Q8NGV6 OR5H6_HUMAN Homo sapiens olfactory receptor, family 5, subfamily H, member 6 (OR5H6), mRNA. 249 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G249G(2) cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 CTATCAAAGGGATACGAAAAG 0.388000 22 13 0 0 1 0 0 HDAC9 9734 broad.mit.edu 37 7 18875090 18875090 + Splice_Site SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr7:18875090G>A uc003sui.3 + 19 2508 c.2467_splice c.e19-1 p.D823_splice HDAC9_uc003sue.3_Splice_Site_p.D820_splice|HDAC9_uc011jyd.2_Splice_Site_p.D820_splice|HDAC9_uc003suh.3_Splice_Site_p.D820_splice|HDAC9_uc003suj.3_Splice_Site_p.D779_splice|HDAC9_uc003suk.3_Splice_Site_p.D68_splice NM_178425 NP_848512 Q9UKV0 HDAC9_HUMAN Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA. 820 Histone deacetylase. B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) TTCCCTGTAGGATGTTCACCA 0.443000 13 5 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82784887 82784887 + Missense_Mutation SNP C A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr7:82784887C>A uc003uhx.2 - 1 1359 c.1070G>T c.(1069-1071)gGg>gTg p.G357V PCLO_uc003uhv.2_Missense_Mutation_p.G357V NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 323 Gln-rich.|Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.G357G(1) breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 CTTTGTTGTCCCTGGTGGCTG 0.602000 26 3 0.004672 0.00469665 1 1 0 LCN2 3934 broad.mit.edu 37 9 130915390 130915390 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr9:130915390G>A uc004bto.1 + 5 662 c.589G>A c.(589-591)Gac>Aac p.D197N NM_005564 NP_005555 P80188 NGAL_HUMAN Homo sapiens lipocalin 2 (LCN2), mRNA. 197 apoptosis|innate immune response|regulation of apoptosis|siderophore transport iron ion binding|transporter activity central_nervous_system(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1) 8 CCAGTGTATCGACGGCTGAGT 0.607000 78 48 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238280832 238280832 + Missense_Mutation SNP G T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:238280832G>T uc002vwl.2 - 8 4113 c.3828C>A c.(3826-3828)ttC>ttA p.F1276L COL6A3_uc002vwo.2_Missense_Mutation_p.F1070L|COL6A3_uc010znj.1_Missense_Mutation_p.F669L|COL6A3_uc002vwq.3_Missense_Mutation_p.F1070L|COL6A3_uc002vwr.3_Missense_Mutation_p.F869L NM_004369 NP_004360 P12111 CO6A3_HUMAN Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA. 1276 Nonhelical region.|VWFA 7. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GGTCATCGCTGAACTGGATGA 0.617000 18 11 3.86212e-05 3.91348e-05 1 1 0 TBC1D22A 25771 broad.mit.edu 37 22 47189461 47189461 + Silent SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr22:47189461C>T uc003bib.3 + 2 349 c.183C>T c.(181-183)ttC>ttT p.F61F TBC1D22A_uc010haf.3_Silent_p.F31F|TBC1D22A_uc003bie.3_Silent_p.F42F|TBC1D22A_uc010hag.3_Non-coding_Transcript|TBC1D22A_uc003bif.3_Silent_p.F14F NM_014346 NP_055161 Q8WUA7 TB22A_HUMAN Homo sapiens TBC1 domain family, member 22A (TBC1D22A), mRNA. 61 intracellular Rab GTPase activator activity|protein homodimerization activity p.T60S(1) breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1) 22 all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236) UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231) TCAGCACCTTCCAGGAGTTTG 0.592000 31 15 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228528583 228528583 + Silent SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr1:228528583C>T uc009xez.1 + 71 17735 c.17691C>T c.(17689-17691)atC>atT p.I5897I OBSCN_uc001hsn.3_Silent_p.I5897I|OBSCN_uc001hsr.1_Silent_p.I526I NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 5897 PH. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction M band|Z disc|cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GCGAGCCCATCCGCCAGGTTG 0.672000 5 5 0 0 1 0 0 KIF26B 55083 broad.mit.edu 37 1 245862241 245862241 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr1:245862241G>A uc001ibf.1 + 13 6520 c.6080G>A c.(6079-6081)aGg>aAg p.R2027K NM_018012 NP_060482 Q2KJY2 KI26B_HUMAN Homo sapiens kinesin family member 26B (KIF26B), mRNA. 2027 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) CGCCAGCAGAGGATCGCCGAG 0.557000 24 13 0 0 1 0 0 STXBP5L 9515 broad.mit.edu 37 3 121001176 121001176 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr3:121001176C>T uc003eec.4 + 19 2314 c.2174C>T c.(2173-2175)tCc>tTc p.S725F STXBP5L_uc011bji.2_Intron NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA. 725 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) ATCCGTACTTCCTATCAGAGT 0.393000 18 13 0 0 1 0 0 MYF5 4617 broad.mit.edu 37 12 81112815 81112815 + Silent SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr12:81112815C>T uc001szg.2 + 2 888 c.753C>T c.(751-753)atC>atT p.I251I NM_005593 NP_005584 P13349 MYF5_HUMAN Homo sapiens myogenic factor 5 (MYF5), mRNA. 251 muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1) 30 CCAGGCTTATCTATCATGTGC 0.483000 23 14 0 0 1 0 0 ZNF665 79788 broad.mit.edu 37 19 53669384 53669384 + Missense_Mutation SNP A G G TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:53669384A>G uc010eqm.1 - 3 459 c.359T>C c.(358-360)cTc>cCc p.L120P NM_024733 NP_079009 Q9H7R5 ZN665_HUMAN Homo sapiens zinc finger protein 665 (ZNF665), mRNA. 55 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 35 GBM - Glioblastoma multiforme(134;0.0196) TCTACCAGGGAGATTTTCTTT 0.403000 61 46 0 0 1 0 0 SIN3A 25942 broad.mit.edu 37 15 75688769 75688769 + Silent SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr15:75688769G>A uc002bai.3 - 12 2182 c.1923C>T c.(1921-1923)tcC>tcT p.S641S SIN3A_uc002baj.3_Silent_p.S641S|SIN3A_uc010uml.2_Silent_p.S641S NM_015477 NP_056292 Q96ST3 SIN3A_HUMAN Homo sapiens SIN3 transcription regulator homolog A (yeast) (SIN3A), transcript variant 2, mRNA. 641 Interaction with NCOR1 (By similarity).|Interactions with SUDS3 and SAP130. blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent Sin3 complex|nucleolus protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 63 CAGACAAGCGGGAAAGCTTCT 0.463000 36 18 0 0 1 0 0 ABCC12 94160 broad.mit.edu 37 16 48142390 48142390 + Missense_Mutation SNP T A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr16:48142390T>A uc002efc.1 - 16 2678 c.2332A>T c.(2332-2334)Acc>Tcc p.T778S ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript NM_033226 NP_150229 Q96J65 MRP9_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA. 778 integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1) 90 all_cancers(37;0.0474)|all_lung(18;0.047) GTTTTCCAGGTCACGGTTCCT 0.458000 27 16 0 0 1 0 0 LAMB4 22798 broad.mit.edu 37 7 107720083 107720083 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr7:107720083G>A uc010ljo.1 - 14 1934 c.1850C>T c.(1849-1851)cCt>cTt p.P617L LAMB4_uc003vey.2_Missense_Mutation_p.P617L NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN Homo sapiens laminin, beta 4 (LAMB4), mRNA. 617 Laminin IV type B. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 GAAGTCCACAGGAAAGGGAAT 0.473000 29 10 0 0 1 0 0 KIAA2022 340533 broad.mit.edu 37 X 73961871 73961871 + Missense_Mutation SNP T A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chrX:73961871T>A uc004eby.3 - 2 3138 c.2521A>T c.(2521-2523)Aat>Tat p.N841Y NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN Homo sapiens KIAA2022 (KIAA2022), mRNA. 841 DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 CTGCCTTCATTTTGCTCTGGA 0.483000 7 26 0 0 1 0 0 TMEM132B 114795 broad.mit.edu 37 12 125834785 125834785 + Silent SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr12:125834785G>A uc001uhe.1 + 1 848 c.840G>A c.(838-840)gaG>gaA p.E280E TMEM132B_uc021rgl.1_Silent_p.E170E NM_052907 NP_443139 Q14DG7 T132B_HUMAN Homo sapiens transmembrane protein 132B (TMEM132B), mRNA. 280 integral to membrane p.D279H(1) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) GCTTGGACGAGAATGTGGTCA 0.562000 90 53 0 0 1 0 0 GSDMC 56169 broad.mit.edu 37 8 130778026 130778026 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr8:130778026G>A uc003ysr.3 - 3 1300 c.418C>T c.(418-420)Cca>Tca p.P140S NM_031415 NP_113603 Q9BYG8 GSDMC_HUMAN Homo sapiens gasdermin C (GSDMC), mRNA. 140 mitochondrion autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 26 GATGGCTCTGGATCCAACAGT 0.507000 20 15 0 0 1 0 0 ZNF334 55713 broad.mit.edu 37 20 45130774 45130774 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr20:45130774C>T uc002xsa.3 - 3 1735 c.1273G>A c.(1273-1275)Gaa>Aaa p.E425K ZNF334_uc002xsb.3_Missense_Mutation_p.E364K|ZNF334_uc002xsd.3_Missense_Mutation_p.E364K|ZNF334_uc002xsc.3_Missense_Mutation_p.E402K|ZNF334_uc010ghl.3_Missense_Mutation_p.E401K Q9HCZ1 ZN334_HUMAN Homo sapiens zinc finger protein 334 (ZNF334), transcript variant 2, mRNA. 402 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R425K(1) NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) TAGGGTTTTTCCCCTGTGTGA 0.433000 65 36 0 0 1 0 0 E4F1 1877 broad.mit.edu 37 16 2282857 2282857 + Silent SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr16:2282857C>T uc002cpm.3 + 5 879 c.831C>T c.(829-831)atC>atT p.I277I E4F1_uc010bsi.3_Silent_p.I277I|E4F1_uc010bsj.3_Silent_p.I277I NM_004424 NP_004415 Q66K89 E4F1_HUMAN Homo sapiens E4F transcription factor 1 (E4F1), mRNA. 277 cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth cytoplasm|nucleoplasm DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1) 1 CAGAGAAAATCCGCTTCAGTG 0.612000 29 34 0 0 1 0 0 POLR2A 5430 broad.mit.edu 37 17 7416106 7416106 + Silent SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr17:7416106C>T uc002ghf.4 + 27 5006 c.4620C>T c.(4618-4620)acC>acT p.T1540T NM_000937 NP_000928 P24928 RPB1_HUMAN Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA. 1540 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|RNA-directed RNA polymerase activity|metal ion binding|ubiquitin protein ligase binding breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 50 Prostate(122;0.173) GTGGAATGACCCCAGGGGCAG 0.632000 70 36 0 0 1 0 0 OPLAH 26873 broad.mit.edu 37 8 145113487 145113487 + Missense_Mutation SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr8:145113487C>T uc003zar.3 - 5 777 c.695G>A c.(694-696)gGg>gAg p.G232E OPLAH_uc003zat.1_Missense_Mutation_p.G10E NM_017570 NP_060040 O14841 OPLA_HUMAN Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA. 232 5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) L-Glutamic Acid(DB00142) GGCCGTGTGCCCCCGAGGGAC 0.677000 28 14 0 0 1 0 0 SCN9A 6335 broad.mit.edu 37 2 167055212 167055212 + Missense_Mutation SNP T A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:167055212T>A uc010fpl.3 - 26 6245 c.5904A>T c.(5902-5904)aaA>aaT p.K1968N BC051759_uc002udp.3_Intron NM_002977 NP_002968 Q15858 SCN9A_HUMAN Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA. 1979 voltage-gated sodium channel complex voltage-gated sodium channel activity p.D1967E(1)|p.D1967Y(1) 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) TGTCTTTCCCTTTGTCTTCCT 0.358000 9 7 0 0 1 0 0 SAMD9 54809 broad.mit.edu 37 7 92731648 92731648 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr7:92731648G>A uc003umf.3 - 2 4033 c.3763C>T c.(3763-3765)Cct>Tct p.P1255S SAMD9_uc003umg.3_Missense_Mutation_p.P1255S|SAMD9_uc022ahg.1_Missense_Mutation_p.P1255S NM_017654 NP_060124 Q5K651 SAMD9_HUMAN Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA. 1255 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) GTTAAATAAGGAATATAGTTT 0.289000 36 21 0 0 1 0 0 COL12A1 1303 broad.mit.edu 37 6 75898207 75898207 + Missense_Mutation SNP T G G TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr6:75898207T>G uc021zbv.1 - 6 903 c.868A>C c.(868-870)Aca>Cca p.T290P COL12A1_uc021zbw.1_Intron|COL12A1_uc003phs.3_Missense_Mutation_p.T290P|COL12A1_uc003pht.3_Intron|COL12A1_uc003phu.1_5'UTR NM_004370 NP_004361 Q99715 COCA1_HUMAN Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA. 290 VWFA 1. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 AGTGAAGGTGTGGAGGCAATT 0.408000 50 23 0 0 1 0 0 ITK 3702 broad.mit.edu 37 5 156667109 156667109 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr5:156667109G>A uc003lwo.1 + 9 971 c.889G>A c.(889-891)Gaa>Aaa p.E297K NM_005546 NP_005537 Q08881 ITK_HUMAN Homo sapiens IL2-inducible T-cell kinase (ITK), mRNA. 297 SH2. T cell receptor signaling pathway|cellular defense response|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 70 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.1) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TCACATCAAGGAAACAAATGA 0.348000 T SYK peripheral T-cell lymphoma 10 15 0 0 1 0 0 PTGER3 5733 broad.mit.edu 37 1 71478068 71478068 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr1:71478068G>A uc001dfn.3 - 1 1228 c.997C>T c.(997-999)Cgc>Tgc p.R333C PTGER3_uc001dfg.1_Missense_Mutation_p.R333C|PTGER3_uc001dfh.1_Non-coding_Transcript|PTGER3_uc001dfi.1_Non-coding_Transcript|PTGER3_uc001dfk.1_Missense_Mutation_p.R333C|PTGER3_uc001dfj.1_Non-coding_Transcript|PTGER3_uc001dfl.1_Missense_Mutation_p.R333C|PTGER3_uc009wbm.1_Missense_Mutation_p.R333C|PTGER3_uc001dfm.1_Non-coding_Transcript|PTGER3_uc009wbn.2_Missense_Mutation_p.R333C|PTGER3_uc009wbo.3_Missense_Mutation_p.R333C|PTGER3_uc001dfo.3_Missense_Mutation_p.R333C|PTGER3_uc001dfp.1_Missense_Mutation_p.R333C|PTGER3_uc001dfq.3_Missense_Mutation_p.R333C NM_198716 NP_942009 P43115 PE2R3_HUMAN Homo sapiens prostaglandin E receptor 3 (subtype EP3) (PTGER3), transcript variant 6, mRNA. 333 cell death|positive regulation of fever generation|transcription, DNA-dependent integral to plasma membrane|nuclear envelope ligand-dependent nuclear receptor activity|prostaglandin E receptor activity p.R333S(2) endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25 Bimatoprost(DB00905) GAAGCCAGGCGAACAGCTATT 0.428000 8 12 0 0 1 0 0 AK022914 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A G G TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr14:19857036A>G uc001vvq.1 - 4 c.494T>C Homo sapiens cDNA FLJ12852 fis, clone NT2RP2003445. CTGGATAATAAAGTTCATCTC 0.373000 61 4 0 0 1 0 0 ACACB 32 broad.mit.edu 37 12 109690823 109690823 + Silent SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr12:109690823C>T uc001tob.3 + 42 6024 c.5905C>T c.(5905-5907)Ctg>Ttg p.L1969L ACACB_uc001toc.3_Silent_p.L1969L|ACACB_uc010sxl.1_Non-coding_Transcript|ACACB_uc001tod.3_Non-coding_Transcript|ACACB_uc010sxm.2_Silent_p.L635L NM_001093 NP_001084 O00763 ACACB_HUMAN Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA. 1969 Carboxyltransferase. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation Golgi apparatus|cytosol|endomembrane system|membrane ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) AAAGCAGGTCCTGGGAAGAGA 0.512000 58 39 0 0 1 0 0 PRX 57716 broad.mit.edu 37 19 40901474 40901474 + Missense_Mutation SNP A C C TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:40901474A>C uc002onr.3 - 6 3054 c.2785T>G c.(2785-2787)Tcc>Gcc p.S929A PRX_uc002onq.3_Missense_Mutation_p.S790A|PRX_uc002ons.3_3'UTR NM_181882 NP_870998 Q9BXM0 PRAX_HUMAN Homo sapiens periaxin (PRX), transcript variant 2, mRNA. 929 axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) GAGAACTTGGAAGAGGGCTTG 0.547000 68 37 0 0 1 0 0 RGS22 26166 broad.mit.edu 37 8 101020717 101020717 + Missense_Mutation SNP C T T rs79298856 TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr8:101020717C>T uc003yjb.1 - 14 2442 c.2247G>A c.(2245-2247)atG>atA p.M749I RGS22_uc003yja.1_Missense_Mutation_p.M568I|RGS22_uc003yjc.1_Missense_Mutation_p.M737I|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc010mbo.1_Non-coding_Transcript|RGS22_uc022azf.1_Missense_Mutation_p.M138I NM_015668 NP_056483 Q8NE09 RGS22_HUMAN Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA. 749 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) GCTGTATTTTCATATAAATTT 0.403000 27 12 0 0 1 0 0 KCNN3 3782 broad.mit.edu 37 1 154705564 154705564 + Missense_Mutation SNP G T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr1:154705564G>T uc021pah.1 - 4 1864 c.1550C>A c.(1549-1551)tCc>tAc p.S517Y KCNN3_uc001ffo.3_Missense_Mutation_p.S197Y|KCNN3_uc001ffp.3_Missense_Mutation_p.S502Y NM_001204087 NP_001191016 Q9UGI6 KCNN3_HUMAN Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA. 507 integral to membrane calmodulin binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) GAATGTGATGGAGATGAGCCA 0.517000 30 12 4.36969e-10 4.4996e-10 1 1 0 AP3D1 8943 broad.mit.edu 37 19 2118669 2118669 + Silent SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:2118669G>A uc002lva.3 - 14 1867 c.1644C>T c.(1642-1644)gcC>gcT p.A548A AP3D1_uc002luy.3_Silent_p.A457A|AP3D1_uc002luz.3_Silent_p.A548A NM_003938 NP_003929 O14617 AP3D1_HUMAN Homo sapiens adaptor-related protein complex 3, delta 1 subunit (AP3D1), transcript variant 2, mRNA. 548 eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport Golgi membrane|endosome membrane|membrane coat binding|protein transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 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) GCTGGGTGACGGCCTGAGCGC 0.647000 21 18 0 0 1 0 0 PSG3 5671 broad.mit.edu 37 19 43376041 43376041 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:43376041G>A uc002ovd.1 - 2 725 c.587C>T c.(586-588)tCc>tTc p.S196F PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Missense_Mutation_p.S196F|PSG3_uc002oun.3_Non-coding_Transcript|PSG3_uc002ovc.3_Intron|PSG3_uc002ova.2_Intron|PSG3_uc002ouz.2_Missense_Mutation_p.S196F|PSG3_uc002ovb.3_Missense_Mutation_p.S196F NM_006905 NP_008836 Q16557 PSG3_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA. 196 Ig-like C2-type 1. defense response|female pregnancy extracellular region p.S196S(1) 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) GTTGGTTTCGGACAGCTTCAA 0.522000 169 103 0 0 1 0 0 PLA2G2C 391013 broad.mit.edu 37 1 20501688 20501688 + Splice_Site SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr1:20501688G>A uc009vpq.1 - 1 1 c.1_splice c.e1-1 p.M1_splice NM_001105572 NP_001099042 Homo sapiens phospholipase A2, group IIC (PLA2G2C), mRNA. NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1) 7 Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.14e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.000528)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CAATGAGCATGATGCTGCCTT 0.517000 6 11 0 0 1 0 0 D2HGDH 728294 broad.mit.edu 37 2 242707241 242707241 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:242707241G>A uc002wce.1 + 9 1596 c.1423G>A c.(1423-1425)Gag>Aag p.E475K D2HGDH_uc010fzq.1_Missense_Mutation_p.E341K|D2HGDH_uc002wcg.1_Non-coding_Transcript|D2HGDH_uc002wch.3_Non-coding_Transcript|D2HGDH_uc002wci.2_Missense_Mutation_p.E174K NM_152783 NP_689996 Q8N465 D2HDH_HUMAN Homo sapiens D-2-hydroxyglutarate dehydrogenase (D2HGDH), nuclear gene encoding mitochondrial protein, mRNA. 475 2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion mitochondrial matrix (R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1) 16 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) CGTCAGCGCGGAGCACGGAGT 0.692000 15 13 0 0 1 0 0 PKD1L1 168507 broad.mit.edu 37 7 47882633 47882633 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr7:47882633G>A uc003tny.2 - 33 5406 c.5372C>T c.(5371-5373)tCc>tTc p.S1791F NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA. 1791 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 GCCCGGCAGGGAAGCTTCTTG 0.473000 18 8 0 0 1 0 0 ZBTB32 27033 broad.mit.edu 37 19 36205964 36205964 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:36205964G>A uc002oay.3 + 1 646 c.436G>A c.(436-438)Gga>Aga p.G146R ZBTB32_uc002oaz.3_Non-coding_Transcript|MLL2_uc021usu.1_5'Flank|MLL2_uc021usv.1_5'Flank NM_014383 NP_055198 Q9Y2Y4 ZBT32_HUMAN Homo sapiens zinc finger and BTB domain containing 32 (ZBTB32), mRNA. 146 DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleoplasm DNA binding|protein binding|transcription corepressor activity|zinc ion binding large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 14 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) GGGGGACCCTGGAGAGAAGCA 0.547000 18 13 0 0 1 0 0 KCNJ4 3761 broad.mit.edu 37 22 38823280 38823280 + Silent SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr22:38823280G>A uc003avs.1 - 1 955 c.858C>T c.(856-858)atC>atT p.I286I KCNJ4_uc003avt.1_Silent_p.I286I|KCNJ4_uc021wpp.1_Silent_p.I286I NM_004981 NP_690607 P48050 IRK4_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 4 (KCNJ4), transcript variant 2, mRNA. 286 synaptic transmission basolateral plasma membrane|voltage-gated potassium channel complex PDZ domain binding|inward rectifier potassium channel activity endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 23 Melanoma(58;0.0286) GGATGACCACGATCTCAAAGT 0.622000 19 13 0 0 1 0 0 MYLK3 91807 broad.mit.edu 37 16 46771695 46771695 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr16:46771695G>A uc002eei.4 - 2 1045 c.929C>T c.(928-930)cCt>cTt p.P310L MYLK3_uc010vge.2_Intron|MYLK3_uc002eej.1_5'UTR NM_182493 NP_872299 Q32MK0 MYLK3_HUMAN Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA. 310 cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3) 37 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) TGGGCACTGAGGGCCAGGCCC 0.652000 43 32 0 0 1 0 0 DNASE1L2 1775 broad.mit.edu 37 16 2286876 2286876 + Missense_Mutation SNP C A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr16:2286876C>A uc002cpo.3 + 0 453 c.59C>A c.(58-60)gCc>gAc p.A20D DNASE1L2_uc002cpn.3_Missense_Mutation_p.A20D|DNASE1L2_uc002cpp.3_Missense_Mutation_p.A20D|DNASE1L2_uc002cpq.3_Missense_Mutation_p.A20D NM_001374 NP_001365 Q92874 DNSL2_HUMAN Homo sapiens deoxyribonuclease I-like 2 (DNASE1L2), mRNA. 20 DNA catabolic process extracellular region DNA binding|calcium ion binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters|protein binding endometrium(1)|prostate(1)|skin(2) 4 GCCGGGACCGCCGCGCTTCGC 0.711000 12 7 8.12818e-05 8.19269e-05 1 1 0 SULT2B1 6820 broad.mit.edu 37 19 49079341 49079341 + Splice_Site SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr19:49079341G>A uc002pjl.3 + 2 295 c.214_splice c.e2+1 p.G72_splice SULT2B1_uc002pjm.3_Splice_Site_p.G57_splice NM_177973 NP_814444 O00204 ST2B1_HUMAN Homo sapiens sulfotransferase family, cytosolic, 2B, member 1 (SULT2B1), transcript variant 2, mRNA. 72 3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process cytosol alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1) 11 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178) CCCAAGTCAGGTACCTGCCGG 0.622000 42 32 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126370128 126370128 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr4:126370128G>A uc003ifj.4 + 8 7957 c.7957G>A c.(7957-7959)Gag>Aag p.E2653K FAT4_uc011cgp.2_Missense_Mutation_p.E951K|FAT4_uc003ifi.1_Missense_Mutation_p.E131K NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 2653 Cadherin 25. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 ctCCTCTTACGAGAAACTTGA 0.373000 11 16 0 0 1 0 0 ARID3C 138715 broad.mit.edu 37 9 34622353 34622353 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr9:34622353G>A uc011lon.2 - 4 1039 c.1039C>T c.(1039-1041)Ccc>Tcc p.P347S DCTN3_uc003zuw.1_5'Flank|DCTN3_uc003zux.1_5'Flank NM_001017363 NP_001017363 A6NKF2 ARI3C_HUMAN Homo sapiens AT rich interactive domain 3C (BRIGHT-like) (ARID3C), mRNA. 347 Pro-rich.|REKLES. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1) 14 all_epithelial(49;0.102) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.175) CCCCTCAGGGGAACCTTGCCA 0.622000 12 11 0 0 1 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125261910 125261910 + Silent SNP C T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:125261910C>T uc010flu.3 + 7 1468 c.1104C>T c.(1102-1104)ccC>ccT p.P368P CNTNAP5_uc002tno.3_Silent_p.P367P NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA. 367 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding p.P367Q(2)|p.P367P(2)|p.P367H(1) NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) AGATTGTGCCCATCACATTTG 0.463000 38 29 0 0 1 0 0 OR1C1 26188 broad.mit.edu 37 1 247921025 247921025 + Silent SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr1:247921025G>A uc010pza.2 - 0 684 c.684C>T c.(682-684)atC>atT p.I228I NM_012353 NP_036485 Q15619 OR1C1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily C, member 1 (OR1C1), mRNA. 228 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1) 46 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) GAGTAGAGGTGATCTTCAGAA 0.493000 11 13 0 0 1 0 0 CHODL 140578 broad.mit.edu 37 21 19629108 19629108 + Nonsense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr21:19629108G>A uc002ykv.3 + 1 753 c.362G>A c.(361-363)tGg>tAg p.W121* CHODL_uc002ykr.3_Nonsense_Mutation_p.W80*|CHODL_uc002yks.3_Nonsense_Mutation_p.W80*|CHODL_uc021whr.1_Nonsense_Mutation_p.W80*|CHODL_uc002ykt.3_Nonsense_Mutation_p.W80*|CHODL_uc002yku.3_Nonsense_Mutation_p.W80*|CHODL_uc021whs.1_Nonsense_Mutation_p.W102* NM_024944 NP_001191105 Q9H9P2 CHODL_HUMAN Homo sapiens chondrolectin (CHODL), transcript variant 1, mRNA. 121 C-type lectin. muscle organ development integral to membrane|perinuclear region of cytoplasm sugar binding kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_epithelial(11;0.21) Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917) CTCTACCAGTGGTCTGATGGA 0.517000 34 40 0 0 1 0 0 PIK3R5 23533 broad.mit.edu 37 17 8791862 8791862 + Silent SNP G A A rs139885994 TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr17:8791862G>A uc002glt.3 - 9 1309 c.1242C>T c.(1240-1242)caC>caT p.H414H PIK3R5_uc010vuz.2_Silent_p.H414H|PIK3R5_uc021tqc.1_Silent_p.H28H|PIK3R5_uc010cob.2_Silent_p.H28H|PIK3R5_uc010coa.2_Silent_p.H28H|PIK3R5_uc002glu.4_Silent_p.H28H NM_014308 NP_001238784 Q8WYR1 PI3R5_HUMAN Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA. 414 platelet activation cytosol|membrane|nucleus breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1) 34 CAGGCCTGCGGTGGCCTCGGC 0.637000 5 7 0 0 1 0 0 KCNJ3 3760 broad.mit.edu 37 2 155566166 155566166 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:155566166G>A uc002tyv.1 + 1 949 c.754G>A c.(754-756)Gat>Aat p.D252N KCNJ3_uc010zce.1_Intron|KCNJ3_uc021vrh.1_Missense_Mutation_p.D252N NM_002239 NP_002230 P48549 IRK3_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA. 252 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 54 Halothane(DB01159) ACTTGAACTGGATGTAGGTTT 0.463000 40 23 0 0 1 0 0 DSG4 147409 broad.mit.edu 37 18 28991184 28991185 + Missense_Mutation DNP CC TT TT TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr18:28991184_28991185CC>TT uc002kwr.2 + 13 2320_2321 c.2185_2186CC>TT c.(2185-2187)ccc>TTc p.P729F DSG4_uc002kwq.2_Intron NM_001134453 NP_001127925 Q86SJ6 DSG4_HUMAN Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA. 710 homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) CCAACATCCTCCCTTTTCAGAA 0.609000 31 15 0 0 1 0 0 MYLK3 91807 broad.mit.edu 37 16 46771693 46771693 + Nonsense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr16:46771693G>A uc002eei.4 - 2 1047 c.931C>T c.(931-933)Cag>Tag p.Q311* MYLK3_uc010vge.2_Intron|MYLK3_uc002eej.1_5'UTR NM_182493 NP_872299 Q32MK0 MYLK3_HUMAN Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA. 311 cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3) 37 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) CCTGGGCACTGAGGGCCAGGC 0.657000 42 31 0 0 1 0 0 CXCR1 3577 broad.mit.edu 37 2 219028978 219028978 + Silent SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:219028978G>A uc021vwq.1 - 0 957 c.957C>T c.(955-957)atC>atT p.I319I CXCR1_uc002vhc.3_Silent_p.I319I|HV303425_uc021vwr.1_5'Flank NM_000634 NP_000625 P25024 CXCR1_HUMAN Homo sapiens chemokine (C-X-C motif) receptor 1 (CXCR1), mRNA. 319 dendritic cell chemotaxis|inflammatory response integral to membrane|plasma membrane interleukin-8 receptor activity endometrium(1)|large_intestine(2)|lung(7)|prostate(3) 13 GCATAGCCAGGATCTTGAGGA 0.502000 37 25 0 0 1 0 0 RALGAPA2 57186 broad.mit.edu 37 20 20493232 20493232 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr20:20493232G>A uc002wrz.3 - 31 4924 c.4781C>T c.(4780-4782)cCa>cTa p.P1594L RALGAPA2_uc002wry.3_Missense_Mutation_p.P1209L|RALGAPA2_uc010zsg.2_Missense_Mutation_p.P1042L|RALGAPA2_uc002wsa.1_Missense_Mutation_p.P366L NM_020343 NP_065076 Q2PPJ7 RGPA2_HUMAN Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA. 1594 activation of Ral GTPase activity cytosol|nucleus Ral GTPase activator activity|protein heterodimerization activity endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 54 GGGCTCCACTGGGGAGGGCTG 0.473000 17 6 0 0 1 0 0 IFT172 26160 broad.mit.edu 37 2 27706215 27706215 + Missense_Mutation SNP G A A TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr2:27706215G>A uc002rku.3 - 6 562 c.511C>T c.(511-513)Cat>Tat p.H171Y IFT172_uc002rkv.3_Missense_Mutation_p.H171Y|IFT172_uc010yls.2_Missense_Mutation_p.H150Y|IFT172_uc010ezc.3_Missense_Mutation_p.H171Y NM_015662 NP_056477 Q9UG01 IF172_HUMAN Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA. 171 cilium assembly cilium binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(172;0.155) CCATCTGCATGACCAGAGAGA 0.423000 21 14 0 0 1 0 0 APC 324 broad.mit.edu 37 5 112151249 112151252 + Frame_Shift_Del DEL CACT - - rs143341972 TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr5:112151249_112151252delCACT uc003kpz.4 + 9 1085_1088 c.892_895delCACT c.(892-897)cactctfs p.H298fs APC_uc011cvt.2_Frame_Shift_Del_p.H280fs|APC_uc003kpy.4_Frame_Shift_Del_p.H298fs|APC_uc010jbz.3_Frame_Shift_Del_p.H15fs NM_001127510 NP_001120982 P25054 APC_HUMAN Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA. 298 Leu-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.H298fs*28(2)|p.S299fs*27(2) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) TAGTAGCACACACTCTGCACCTCG 0.407 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) --- 9 --- --- 14 --- OR12D2 26529 broad.mit.edu 37 6 29364925 29364926 + Frame_Shift_Ins INS - T T TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr6:29364925_29364926insT uc003nmf.4 + 0 510_511 c.449_450insT c.(448-450)ggtfs p.G150fs NM_013936 NP_039224 P58182 O12D2_HUMAN Homo sapiens olfactory receptor, family 12, subfamily D, member 2 (OR12D2), mRNA. 150 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 31 TGGGTCATTGGTTTTTTCCATG 0.470 --- 52 --- --- 61 --- KCNJ15 3772 broad.mit.edu 37 21 39672237 39672239 + In_Frame_Del DEL GAG - - TCGA-D9-A4Z6-01A-12D-A25O-08 TCGA-D9-A4Z6-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C277BDF0-AADC-41EE-B795-494857E3074A 673FC797-CDFC-4057-B767-5CF96672A66B g.chr21:39672237_39672239delGAG uc021wjc.1 + 0 1054_1056 c.1054_1056delGAG c.(1054-1056)gagdel p.E353del KCNJ15_uc002ywv.3_In_Frame_Del_p.E353del|KCNJ15_uc002yww.3_In_Frame_Del_p.E353del|KCNJ15_uc002ywx.3_In_Frame_Del_p.E353del NM_170737 NP_733933 Q99712 IRK15_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 15 (KCNJ15), transcript variant 3, mRNA. 353 synaptic transmission integral to plasma membrane inward rectifier potassium channel activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 24 ACAGCAACTCGAGGAGAAGTACA 0.443 --- 29 --- --- 25 ---