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 t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut PNOC 5368 broad.mit.edu 37 8 28196729 28196729 + Missense_Mutation SNP G G A TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr8:28196729G>A uc010lva.2 + 2 507 c.299G>A c.(298-300)cGa>cAa p.R100Q PNOC_uc003xgp.3_Missense_Mutation_p.R100Q|PNOC_uc011lau.1_Missense_Mutation_p.R36Q NM_006228 NP_006219 Q13519 PNOC_HUMAN Homo sapiens prepronociceptin (PNOC), mRNA. 100 neuropeptide signaling pathway|sensory perception|synaptic transmission extracellular region neuropeptide hormone activity|opioid peptide activity p.R100E(2)|p.R100Q(2)|p.R100G(1) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3) 5 Ovarian(32;0.000953) KIRC - Kidney renal clear cell carcinoma(542;0.104)|Kidney(114;0.125)|Colorectal(74;0.145)|BRCA - Breast invasive adenocarcinoma(99;0.245) CGAATGCCCCGAGTCCGGAGC 0.632000 5 40 0 0 1 0 0 KRTAP10-5 386680 broad.mit.edu 37 21 45999968 45999968 + Missense_Mutation SNP C C G TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr21:45999968C>G uc002zfl.1 - 0 514 c.488G>C c.(487-489)tGc>tCc p.C163S TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron NM_198694 NP_941967 P60370 KR105_HUMAN Homo sapiens keratin associated protein 10-5 (KRTAP10-5), mRNA. 163 22 X 5 AA repeats of C-C-X(3). keratin filament endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 14 GGAGGAGGTGCAGCAAGTCGG 0.602000 26 163 0 0 1 0 0 DYX1C1 161582 broad.mit.edu 37 15 55727220 55727220 + Missense_Mutation SNP G G C TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr15:55727220G>C uc002adc.3 - 7 1298 c.930C>G c.(928-930)atC>atG p.I310M CCPG1_uc002acy.3_5'UTR|CCPG1_uc010ugh.1_Intron|CCPG1_uc010ugi.2_Non-coding_Transcript|DYX1C1_uc002adb.3_Missense_Mutation_p.I310M|DYX1C1_uc002add.3_Missense_Mutation_p.I310M NM_130810 NP_570722 Q8WXU2 DYXC1_HUMAN Homo sapiens dyslexia susceptibility 1 candidate 1 (DYX1C1), transcript variant 1, mRNA. 310 neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process cytoplasm|nucleus estrogen receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171) TATATGCATTGATAGCTGCCA 0.318000 13 75 0 0 1 0 0 ANAPC11 51529 broad.mit.edu 37 17 79857212 79857212 + Silent SNP C C T TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr17:79857212C>T uc002kby.1 + 2 356 c.204C>T c.(202-204)atC>atT p.I68I ANAPC11_uc002kbv.1_Intron|ANAPC11_uc002kbw.1_Intron|ANAPC11_uc002kbx.1_Intron|ANAPC11_uc002kbz.1_Intron|ANAPC11_uc002kca.1_Intron|ANAPC11_uc002kcb.1_Intron|ANAPC11_uc002kcc.1_Intron|ANAPC11_uc010dih.1_Intron|NPB_uc002kcd.3_5'Flank NM_001002244 NP_001002244 Q9NYG5 APC11_HUMAN Homo sapiens anaphase promoting complex subunit 11 (ANAPC11), transcript variant 1, mRNA. 0 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm zinc ion binding kidney(1)|lung(1) 2 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) AGGTGCCCATCAACACAGCTT 0.607000 9 30 0 0 1 0 0 ABL2 27 broad.mit.edu 37 1 179077269 179077269 + Nonsense_Mutation SNP G G A TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr1:179077269G>A uc001gmj.4 - 11 3420 c.3133C>T c.(3133-3135)Caa>Taa p.Q1045* ABL2_uc010pnf.2_Nonsense_Mutation_p.Q942*|ABL2_uc010png.2_Nonsense_Mutation_p.Q921*|ABL2_uc010pnh.2_Nonsense_Mutation_p.Q1024*|ABL2_uc001gmg.4_Nonsense_Mutation_p.Q927*|ABL2_uc001gmi.4_Nonsense_Mutation_p.Q1030*|ABL2_uc010pne.2_Nonsense_Mutation_p.Q906* NM_007314 NP_009298 P42684 ABL2_HUMAN Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA. 1045 F-actin-binding (By similarity).|Pro-rich. axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 65 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) AGAGGCACTTGAGGTGGAGGC 0.552000 T ETV6 AML 10 91 0 0 1 0 0 GPR114 221188 broad.mit.edu 37 16 57601840 57601840 + Missense_Mutation SNP C C G TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr16:57601840C>G uc002elx.4 + 8 979 c.894C>G c.(892-894)ttC>ttG p.F298L GPR114_uc010vhr.2_Missense_Mutation_p.F298L|GPR114_uc002ely.3_Missense_Mutation_p.F298L NM_153837 NP_722579 Q8IZF4 GP114_HUMAN Homo sapiens G protein-coupled receptor 114 (GPR114), mRNA. 298 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1) 23 ACATCGCCTTCCTGCTGAGCC 0.612000 6 25 0 0 1 0 0 SERPINA5 5104 broad.mit.edu 37 14 95058528 95058528 + Silent SNP C C T TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr14:95058528C>T uc001ydm.2 + 5 1383 c.1173C>T c.(1171-1173)ttC>ttT p.F391F SERPINA3_uc001ydo.4_Intron NM_000624 NP_000615 P05154 IPSP_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 (SERPINA5), mRNA. 391 fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis extracellular region|membrane|protein complex acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3) 36 COAD - Colon adenocarcinoma(157;0.21) Drotrecogin alfa(DB00055)|Urokinase(DB00013) TTCTGATGTTCATTGTGGATA 0.562000 57 360 0 0 1 0 0 PIP4K2C 79837 broad.mit.edu 37 12 57985101 57985101 + Missense_Mutation SNP C C T TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr12:57985101C>T uc001sou.3 + 0 160 c.29C>T c.(28-30)aCg>aTg p.T10M PIP4K2C_uc001sot.3_Missense_Mutation_p.T10M|PIP4K2C_uc010srs.2_Missense_Mutation_p.T10M|PIP4K2C_uc010srt.2_Missense_Mutation_p.T10M NM_001146258 NP_079055 Q8TBX8 PI42C_HUMAN Homo sapiens phosphatidylinositol-5-phosphate 4-kinase, type II, gamma (PIP4K2C), transcript variant 2, mRNA. 10 cytoplasm|membrane 1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 Melanoma(17;0.122) CCACCAGCCACGGTATCGGCG 0.672000 21 67 0 0 1 0 0 ZNF786 136051 broad.mit.edu 37 7 148767890 148767890 + Silent SNP C C T TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr7:148767890C>T uc003wfh.2 - 3 2111 c.1974G>A c.(1972-1974)gtG>gtA p.V658V ZNF786_uc011kuk.1_Silent_p.V621V|ZNF786_uc003wfi.2_Silent_p.V572V NM_152411 NP_689624 Q8N393 ZN786_HUMAN Homo sapiens zinc finger protein 786 (ZNF786), mRNA. 658 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2) 26 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) TTGAGTGTTTCACAAAGCCCT 0.572000 12 88 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13769559 13769559 + Missense_Mutation SNP C C T TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr12:13769559C>T uc001rbt.2 - 4 1337 c.1158G>A c.(1156-1158)atG>atA p.M386I NM_000834 NP_000825 Q13224 NMDE2_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA. 386 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 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) CATAGTACTTCATCTGCAGGG 0.502000 11 67 0 0 1 0 0 NGEF 25791 broad.mit.edu 37 2 233757743 233757743 + Missense_Mutation SNP T T C TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr2:233757743T>C uc002vts.2 - 6 1255 c.1007A>G c.(1006-1008)gAg>gGg p.E336G NGEF_uc010zmm.1_Missense_Mutation_p.E59G|NGEF_uc010fyg.1_Missense_Mutation_p.E244G NM_019850 NP_062824 Q8N5V2 NGEF_HUMAN Homo sapiens neuronal guanine nucleotide exchange factor (NGEF), transcript variant 1, mRNA. 336 DH. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|growth cone|plasma membrane Rho guanyl-nucleotide exchange factor activity central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4) 35 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604) CATCCGGTGCTCCAGCTCCAG 0.592000 3 63 0 0 1 0 0 SESN1 27244 broad.mit.edu 37 6 109322623 109322623 + Silent SNP G G A TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr6:109322623G>A uc003psu.3 - 2 846 c.414C>T c.(412-414)ggC>ggT p.G138G SESN1_uc021zdp.1_Silent_p.G13G|SESN1_uc003pst.4_Silent_p.G79G NM_014454 NP_001186863 Q9Y6P5 SESN1_HUMAN Homo sapiens sestrin 1 (SESN1), transcript variant 1, mRNA. 79 cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus nucleus cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 10 all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637) Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117) TATCCAAACGGCCCAAAGCAG 0.403000 3 33 0 0 1 0 0 C20orf197 284756 broad.mit.edu 37 20 58645884 58645884 + Missense_Mutation SNP G G T TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr20:58645884G>T uc002ybj.1 + 3 608 c.302G>T c.(301-303)aGt>aTt p.S101I NM_173644 NP_775915 Q8N268 CT197_HUMAN Homo sapiens chromosome 20 open reading frame 197 (C20orf197), mRNA. 101 large_intestine(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 5 BRCA - Breast invasive adenocarcinoma(7;2.33e-09) gctctgcaaagttctgcacca 0.478000 3 11 0 0 1 0 0 SLC33A1 9197 broad.mit.edu 37 3 155571317 155571317 + Missense_Mutation SNP T T C TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr3:155571317T>C uc003fan.4 - 0 932 c.470A>G c.(469-471)tAt>tGt p.Y157C SLC33A1_uc003fao.2_Missense_Mutation_p.Y157C NM_001190992 NP_004724 O00400 ACATN_HUMAN Homo sapiens solute carrier family 33 (acetyl-CoA transporter), member 1 (SLC33A1), transcript variant 2, mRNA. 157 cell death|transmembrane transport Golgi membrane|endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction acetyl-CoA transporter activity endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 22 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) AGTGGATAAATAGATCATGAA 0.488000 3 59 0 0 1 0 0 RIF1 55183 broad.mit.edu 37 2 152320159 152320159 + Silent SNP G G A TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr2:152320159G>A uc002txm.3 + 29 4286 c.4125G>A c.(4123-4125)gaG>gaA p.E1375E RIF1_uc002txn.3_Silent_p.E1375E|RIF1_uc002txl.3_Silent_p.E1375E|RIF1_uc002txo.3_Silent_p.E1375E|RIF1_uc002txp.3_Non-coding_Transcript NM_018151 NP_060621 Q5UIP0 RIF1_HUMAN Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA. 1375 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 97 BRCA - Breast invasive adenocarcinoma(221;0.0429) CTGTAGAGGAGAAAAATGTAG 0.353000 18 54 0 0 1 0 0 FAM179B 23116 broad.mit.edu 37 14 45433228 45433228 + Missense_Mutation SNP C C T TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr14:45433228C>T uc001wvw.3 + 0 1813 c.1604C>T c.(1603-1605)gCc>gTc p.A535V FAM179B_uc001wvv.3_Missense_Mutation_p.A535V|FAM179B_uc010anc.3_Non-coding_Transcript|KLHL28_uc001wvq.3_5'Flank|KLHL28_uc001wvr.3_5'Flank|FAM179B_uc010anb.1_Missense_Mutation_p.A535V|FAM179B_uc001wvu.3_Missense_Mutation_p.A535V NM_015091 NP_055906 Q9Y4F4 F179B_HUMAN Homo sapiens family with sequence similarity 179, member B (FAM179B), mRNA. 535 binding endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 45 GAAGCTTTTGCCGTATTGGCA 0.453000 4 145 0 0 1 0 0 ABCB5 340273 broad.mit.edu 37 7 20782555 20782555 + Missense_Mutation SNP G G A TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr7:20782555G>A uc010kuh.3 + 24 3317 c.3080G>A c.(3079-3081)cGc>cAc p.R1027H ABCB5_uc003suw.4_Missense_Mutation_p.R582H NM_001163941 NP_848654 Q2M3G0 ABCB5_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA. 582 regulation of membrane potential Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 TATCCATGTCGCCCAGATGTT 0.468000 7 49 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51613023 51613023 + Missense_Mutation SNP G G A TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr6:51613023G>A uc003pah.1 - 57 9667 c.9391C>T c.(9391-9393)Cat>Tat p.H3131Y PKHD1_uc010jzn.1_Missense_Mutation_p.H1114Y|PKHD1_uc003pai.3_Missense_Mutation_p.H3131Y NM_138694 NP_619639 P08F94 PKHD1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA. 3131 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) TTATAGAGATGAAGGCCATGA 0.458000 5 292 0 0 1 0 0 GIN1 54826 broad.mit.edu 37 5 102444350 102444350 + Missense_Mutation SNP G G C TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr5:102444350G>C uc003koa.1 - 1 144 c.62C>G c.(61-63)aCt>aGt p.T21S GIN1_uc003kob.1_5'UTR|GIN1_uc003koc.1_Missense_Mutation_p.T21S NM_017676 NP_060146 Q9NXP7 GIN1_HUMAN Homo sapiens gypsy retrotransposon integrase 1 (GIN1), mRNA. 21 DNA integration DNA binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283) Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794) ATATTCACCAGTTCGTTTGTA 0.328000 3 46 0 0 1 0 0 FAIM2 23017 broad.mit.edu 37 12 50264321 50264321 + Missense_Mutation SNP A A G TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr12:50264321A>G uc001rvj.2 - 11 1102 c.917T>C c.(916-918)tTc>tCc p.F306S FAIM2_uc001rvi.2_Missense_Mutation_p.F260S NM_012306 NP_036438 Q9BWQ8 FAIM2_HUMAN Homo sapiens Fas apoptotic inhibitory molecule 2 (FAIM2), mRNA. 306 anti-apoptosis|apoptosis cell junction|integral to membrane|postsynaptic membrane endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2) 14 CTGCAGGAAGAAGGTGAAGAT 0.552000 30 49 0 0 1 0 0 ZNF250 58500 broad.mit.edu 37 8 146107607 146107607 + Missense_Mutation SNP G G T rs2953878 TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr8:146107607G>T uc003zeq.4 - 5 1093 c.976C>A c.(976-978)Ctg>Atg p.L326M COMMD5_uc010mgf.2_Intron|ZNF250_uc003zer.4_Missense_Mutation_p.L321M|ZNF250_uc010mgg.3_Missense_Mutation_p.L321M NM_021061 NP_066405 P15622 ZN250_HUMAN Homo sapiens zinc finger protein 250 (ZNF250), transcript variant 1, mRNA. 326 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(2)|lung(8)|skin(1) 15 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.0654) TGGCTCCGCAGAACAGTGCTA 0.542000 10 14 0 0 1 0 0 ACBD5 91452 broad.mit.edu 37 10 27520723 27520723 + Missense_Mutation SNP A A G TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr10:27520723A>G uc010qdp.2 - 3 520 c.329T>C c.(328-330)aTg>aCg p.M110T ACBD5_uc010qdm.2_Missense_Mutation_p.M108T|ACBD5_uc010qdn.2_Missense_Mutation_p.M1T|ACBD5_uc010qdo.2_Missense_Mutation_p.M1T|ACBD5_uc001ito.3_Missense_Mutation_p.M75T|ACBD5_uc001itp.3_Missense_Mutation_p.M1T|ACBD5_uc001itq.3_Missense_Mutation_p.M1T|ACBD5_uc001itr.1_5'UTR NM_145698 NP_001035938 Q5T8D3 ACBD5_HUMAN Homo sapiens acyl-CoA binding domain containing 5 (ACBD5), transcript variant 1, mRNA. 108 ACB. transport integral to membrane|peroxisomal membrane fatty-acyl-CoA binding breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1) 13 CTCTTTGGTCATATCACCCAG 0.328000 5 69 0 0 1 0 0 ZFPM1 161882 broad.mit.edu 37 16 88600417 88600417 + Missense_Mutation SNP T T A TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr16:88600417T>A uc002fkv.3 + 9 2084 c.2051T>A c.(2050-2052)cTg>cAg p.L684Q NM_153813 NP_722520 Q8IX07 FOG1_HUMAN Homo sapiens zinc finger protein, multitype 1 (ZFPM1), mRNA. 684 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|transcription factor binding|zinc ion binding central_nervous_system(1)|ovary(2)|urinary_tract(1) 4 BRCA - Breast invasive adenocarcinoma(80;0.0478) AGCCGCACGCTGTGCGAGGCC 0.756000 3 11 0 0 1 0 0 NISCH 11188 broad.mit.edu 37 3 52526419 52526419 + Missense_Mutation SNP G G A TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr3:52526419G>A uc003ded.4 + 20 4570 c.4436G>A c.(4435-4437)aGa>aAa p.R1479K NISCH_uc003dee.4_Missense_Mutation_p.R968K|NISCH_uc003deg.1_Intron|STAB1_uc003dei.1_5'Flank|STAB1_uc003dej.3_5'Flank NM_007184 NP_009115 Q9Y2I1 NISCH_HUMAN Homo sapiens nischarin (NISCH), mRNA. 1479 apoptosis|cell communication cytosol|early endosome|plasma membrane|recycling endosome phosphatidylinositol binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 33 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) GCTGAGAGCAGAGAGAAGCTC 0.657000 32 92 0 0 1 0 0 GRINA 2907 broad.mit.edu 37 8 145066705 145066705 + Missense_Mutation SNP C C T TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr8:145066705C>T uc003zan.1 + 5 1061 c.895C>T c.(895-897)Ctc>Ttc p.L299F GRINA_uc003zao.1_Missense_Mutation_p.L299F|GRINA_uc003zap.1_Missense_Mutation_p.L299F NM_001009184 NP_001009184 Q7Z429 GRINA_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding) (GRINA), transcript variant 2, mRNA. 299 integral to membrane central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1) 9 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-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;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CTTCGCCATTCTCTGCATCTT 0.617000 13 24 0 0 1 0 0 ANO1 55107 broad.mit.edu 37 11 70007786 70007786 + Silent SNP G G A TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr11:70007786G>A uc001opj.3 + 17 2144 c.1839G>A c.(1837-1839)ctG>ctA p.L613L ANO1_uc001opl.2_Non-coding_Transcript|ANO1_uc001opk.1_Silent_p.L555L|ANO1_uc010rqk.2_Silent_p.L322L NM_018043 NP_060513 Q5XXA6 ANO1_HUMAN Homo sapiens anoctamin 1, calcium activated chloride channel (ANO1), transcript variant 1, mRNA. 613 multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1) 29 CTTTCCTGCTGAAGTTTGTGA 0.527000 20 103 0 0 1 0 0 SACS 26278 broad.mit.edu 37 13 23909544 23909544 + Missense_Mutation SNP G G A TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr13:23909544G>A uc001uon.2 - 9 9060 c.8471C>T c.(8470-8472)tCa>tTa p.S2824L SACS_uc001uoo.2_Missense_Mutation_p.S2677L|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA. 2824 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) TGAAAAGCCTGATCTATTACA 0.393000 12 53 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11515089 11515089 + Missense_Mutation SNP T T C TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr17:11515089T>C uc002gne.3 + 3 964 c.896T>C c.(895-897)gTt>gCt p.V299A DNAH9_uc002gnd.1_Missense_Mutation_p.V299A NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA. 299 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TACAGAGATGTTGTTGCAGGT 0.453000 4 83 0 0 1 0 0 PPIG 9360 broad.mit.edu 37 2 170493789 170493789 + Missense_Mutation SNP C C T TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr2:170493789C>T uc002uez.3 + 13 2241 c.2021C>T c.(2020-2022)tCa>tTa p.S674L PPIG_uc010fpx.3_Missense_Mutation_p.S659L|PPIG_uc010fpy.3_Missense_Mutation_p.S667L|PPIG_uc002ufb.3_Missense_Mutation_p.S674L|PPIG_uc002ufd.3_Missense_Mutation_p.S671L NM_004792 NP_004783 Q13427 PPIG_HUMAN Homo sapiens peptidylprolyl isomerase G (cyclophilin G) (PPIG), mRNA. 674 RNA splicing|protein folding nuclear matrix|nuclear speck cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1) 43 L-Proline(DB00172) CATAATAGCTCAAATAACAGC 0.348000 16 51 0 0 1 0 0 EXOSC3 51010 broad.mit.edu 37 9 37783998 37783998 + Missense_Mutation SNP G G C TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr9:37783998G>C uc004aal.2 - 1 413 c.387C>G c.(385-387)ttC>ttG p.F129L EXOSC3_uc010mly.1_Missense_Mutation_p.F129L|EXOSC3_uc004aam.2_Missense_Mutation_p.F129L NM_016042 NP_057126 Q9NQT5 EXOS3_HUMAN Homo sapiens exosome component 3 (EXOSC3), transcript variant 1, mRNA. 129 CUT catabolic process|DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|isotype switching|rRNA processing cytoplasmic exosome (RNase complex)|cytosol|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin 3'-5'-exoribonuclease activity|RNA binding|protein binding breast(2)|endometrium(1)|kidney(1) 4 GBM - Glioblastoma multiforme(29;0.00771)|Lung(182;0.221) CATCAACTTTGAATATATCTC 0.383000 15 76 0 0 1 0 0 JUN 3725 broad.mit.edu 37 1 59248693 59248693 + Missense_Mutation SNP G G A TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr1:59248693G>A uc001cze.3 - 0 1093 c.50C>T c.(49-51)tCg>tTg p.S17L LOC100131060_uc001czf.2_5'Flank|LOC100131060_uc010oop.1_5'Flank NM_002228 NP_002219 P05412 JUN_HUMAN Homo sapiens jun proto-oncogene (JUN), mRNA. 17 MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|SMAD protein import into nucleus|SMAD protein signal transduction|Toll signaling pathway|innate immune response|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway R-SMAD binding|Rho GTPase activator activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity|transcription factor binding|transcription regulatory region DNA binding breast(2)|kidney(2)|lung(5)|skin(1) 10 all_cancers(7;8.55e-07) Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570) CGGGAGGAACGAGGCGTTGAG 0.552000 A sarcoma 15 128 0 0 1 0 0 EHBP1L1 254102 broad.mit.edu 37 11 65349703 65349703 + Silent SNP G G C TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr11:65349703G>C uc001oeo.4 + 8 1825 c.1560G>C c.(1558-1560)ggG>ggC p.G520G NM_001099409 NP_001092879 Q8N3D4 EH1L1_HUMAN Homo sapiens EH domain binding protein 1-like 1 (EHBP1L1), mRNA. 520 central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 GTATTGAGGGGACAGGCCTGG 0.637000 4 14 0 0 1 0 0 CACNA1S 779 broad.mit.edu 37 1 201009764 201009764 + Missense_Mutation SNP G G A TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr1:201009764G>A uc001gvv.3 - 41 5439 c.5212C>T c.(5212-5214)Cct>Tct p.P1738S NM_000069 NP_000060 Q13698 CAC1S_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA. 1738 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CAGGGGGCAGGAGGTGCCTGG 0.607000 4 57 0 0 1 0 0 CHD7 55636 broad.mit.edu 37 8 61707670 61707670 + Missense_Mutation SNP A A G TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr8:61707670A>G uc003xue.3 + 3 2714 c.2222A>G c.(2221-2223)gAg>gGg p.E741G CHD7_uc022aux.1_Intron NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA. 741 T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent nucleus ATP binding|DNA binding|chromatin binding|helicase activity p.556_871dup(2) NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) GAAGAAGATGAGGACCCAGGT 0.433000 3 136 0 0 1 0 0 ZNF528 84436 broad.mit.edu 37 19 52919958 52919958 + Missense_Mutation SNP C C G TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr19:52919958C>G uc002pzh.3 + 6 2279 c.1853C>G c.(1852-1854)tCt>tGt p.S618C ZNF528_uc002pzi.3_Missense_Mutation_p.S385C NM_032423 NP_115799 Q3MIS6 ZN528_HUMAN Homo sapiens zinc finger protein 528 (ZNF528), mRNA. 618 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 39 GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817) AGTCACAATTCTGACCTTGCA 0.418000 8 47 0 0 1 0 0 ERLEC1 27248 broad.mit.edu 37 2 54014410 54014410 + Silent SNP C C T TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr2:54014410C>T uc002rxl.3 + 0 343 c.63C>T c.(61-63)ctC>ctT p.L21L GPR75-ASB3_uc021vhl.1_5'Flank|GPR75-ASB3_uc002rxg.2_5'Flank|GPR75-ASB3_uc002rxh.2_5'Flank|GPR75-ASB3_uc002rxi.4_Intron|GPR75-ASB3_uc010yoo.2_5'Flank|ERLEC1_uc002rxm.3_Silent_p.L21L|ERLEC1_uc002rxn.3_Silent_p.L21L NM_015701 NP_056516 Q96DZ1 ERLEC_HUMAN Homo sapiens endoplasmic reticulum lectin 1 (ERLEC1), transcript variant 1, mRNA. 21 ER-associated protein catabolic process endoplasmic reticulum lumen glycoprotein binding|protein binding endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1) 18 TACTGGTCCTCTGCGGCCTCC 0.687000 14 64 0 0 1 0 0 DMXL2 23312 broad.mit.edu 37 15 51791873 51791873 + Missense_Mutation SNP A A G TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr15:51791873A>G uc010ufy.2 - 17 3773 c.3548T>C c.(3547-3549)cTt>cCt p.L1183P DMXL2_uc002abf.3_Missense_Mutation_p.L1183P|DMXL2_uc010bfa.3_Intron NM_001174116 NP_001167587 Q8TDJ6 DMXL2_HUMAN Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA. 1183 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) TCCCACTGTAAGAATGTGGGA 0.408000 3 40 0 0 1 0 0 ERLEC1 27248 broad.mit.edu 37 2 54014378 54014378 + Missense_Mutation SNP C C G TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr2:54014378C>G uc002rxl.3 + 0 311 c.31C>G c.(31-33)Ctg>Gtg p.L11V GPR75-ASB3_uc021vhl.1_5'Flank|GPR75-ASB3_uc002rxg.2_5'Flank|GPR75-ASB3_uc002rxh.2_5'Flank|GPR75-ASB3_uc002rxi.4_Intron|GPR75-ASB3_uc010yoo.2_5'Flank|ERLEC1_uc002rxm.3_Missense_Mutation_p.L11V|ERLEC1_uc002rxn.3_Missense_Mutation_p.L11V NM_015701 NP_056516 Q96DZ1 ERLEC_HUMAN Homo sapiens endoplasmic reticulum lectin 1 (ERLEC1), transcript variant 1, mRNA. 11 ER-associated protein catabolic process endoplasmic reticulum lumen glycoprotein binding|protein binding endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1) 18 CGTACGGAGTCTGGTCCCGGG 0.692000 11 43 0 0 1 0 0 CAND1 55832 broad.mit.edu 37 12 67699222 67699222 + Missense_Mutation SNP T T A TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr12:67699222T>A uc001stn.2 + 9 2211 c.1774T>A c.(1774-1776)Tgt>Agt p.C592S CAND1_uc001sto.2_Intron NM_018448 NP_060918 Q86VP6 CAND1_HUMAN Homo sapiens cullin-associated and neddylation-dissociated 1 (CAND1), mRNA. 592 cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|ubiquitin ligase complex protein binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1) 35 GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(28;0.0279) GGCTATTTCCTGTATGGGACA 0.368000 7 116 0 0 1 0 0 DTNB 1838 broad.mit.edu 37 2 25754346 25754346 + Missense_Mutation SNP T T C TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr2:25754346T>C uc002rgh.3 - 8 1247 c.997A>G c.(997-999)Ata>Gta p.I333V DTNB_uc010yko.2_Missense_Mutation_p.I276V|DTNB_uc002rgi.3_Missense_Mutation_p.I333V|DTNB_uc002rgj.3_Missense_Mutation_p.I333V|DTNB_uc002rgk.3_Missense_Mutation_p.I333V|DTNB_uc002rgl.3_Missense_Mutation_p.I333V|DTNB_uc002rgq.3_Missense_Mutation_p.I333V|DTNB_uc002rgn.3_Missense_Mutation_p.I129V|DTNB_uc010ykp.2_Missense_Mutation_p.I129V|DTNB_uc002rgr.1_Missense_Mutation_p.I322V|DTNB_uc010ykq.1_Missense_Mutation_p.I186V NM_021907 NP_068707 O60941 DTNB_HUMAN Homo sapiens dystrobrevin, beta (DTNB), transcript variant 1, mRNA. 333 cytoplasm calcium ion binding|zinc ion binding endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACTTACACTATATGTGCAAGG 0.468000 69 57 0 0 1 0 0 CASC4 113201 broad.mit.edu 37 15 44630079 44630079 + Nonsense_Mutation SNP C C G TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr15:44630079C>G uc001ztp.3 + 4 1014 c.695C>G c.(694-696)tCa>tGa p.S232* CASC4_uc001ztq.3_Nonsense_Mutation_p.S232*|CASC4_uc010bdu.2_Non-coding_Transcript|CASC4_uc001zto.2_Nonsense_Mutation_p.S232* NM_138423 NP_612432 Q6P4E1 CASC4_HUMAN Homo sapiens cancer susceptibility candidate 4 (CASC4), transcript variant 1, mRNA. 232 integral to membrane NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2) 17 all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027) all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237) GAAGAACCCTCAAGCAATCAT 0.299000 3 58 0 0 1 0 0 TMEM26 219623 broad.mit.edu 37 10 63188763 63188763 + Missense_Mutation SNP G G C TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr10:63188763G>C uc001jlo.2 - 3 895 c.526C>G c.(526-528)Caa>Gaa p.Q176E TMEM26_uc001jlq.3_Non-coding_Transcript NM_178505 NP_848600 Q6ZUK4 TMM26_HUMAN Homo sapiens transmembrane protein 26 (TMEM26), mRNA. 176 integral to membrane kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 18 Prostate(12;0.0112) AGAAGAAGTTGAGAGAGTTGA 0.448000 12 33 0 0 1 0 0 UGGT2 55757 broad.mit.edu 37 13 96555252 96555252 + Missense_Mutation SNP C C G TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr13:96555252C>G uc001vmt.3 - 20 2528 c.2358G>C c.(2356-2358)gaG>gaC p.E786D NM_020121 NP_064506 Q9NYU1 UGGG2_HUMAN Homo sapiens UDP-glucose glycoprotein glucosyltransferase 2 (UGGT2), mRNA. 786 post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding ER-Golgi intermediate compartment|endoplasmic reticulum lumen UDP-glucose:glycoprotein glucosyltransferase activity p.E786*(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2) 60 TAGCTGTGTTCTCTTCATTTA 0.333000 7 40 0 0 1 0 0 PRC1 9055 broad.mit.edu 37 15 91523559 91523559 + Missense_Mutation SNP C C T TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr15:91523559C>T uc002bqm.3 - 6 1040 c.883G>A c.(883-885)Gag>Aag p.E295K PRC1_uc002bqn.3_Missense_Mutation_p.E295K|PRC1_uc002bqo.3_Missense_Mutation_p.E295K|PRC1_uc010uqs.2_Missense_Mutation_p.E254K NM_003981 NP_003972 O43663 PRC1_HUMAN Homo sapiens protein regulator of cytokinesis 1 (PRC1), transcript variant 1, mRNA. 295 Dimerization. cytokinesis|mitotic spindle elongation cytoplasm|nucleus|spindle microtubule|spindle pole protein binding endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2) 25 Lung NSC(78;0.0987)|all_lung(78;0.175) CGAATTGCCTCAATCACTTTC 0.443000 18 90 0 0 1 0 0 IFNGR1 3459 broad.mit.edu 37 6 137519644 137519644 + Missense_Mutation SNP G G T TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr6:137519644G>T uc003qho.2 - 6 1097 c.994C>A c.(994-996)Cca>Aca p.P332T IFNGR1_uc011edm.1_Missense_Mutation_p.P304T NM_000416 NP_000407 P15260 INGR1_HUMAN Homo sapiens interferon gamma receptor 1 (IFNGR1), mRNA. 332 regulation of interferon-gamma-mediated signaling pathway|response to virus integral to plasma membrane interferon-gamma receptor activity central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 18 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389) Interferon gamma-1b(DB00033) TGCATGCCTGGAACTGTTGCT 0.413000 22 32 0 0 1 0 0 RBPJ 3516 broad.mit.edu 37 4 26432321 26432321 + Missense_Mutation SNP G G A TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr4:26432321G>A uc003grx.2 + 11 1431 c.1195G>A c.(1195-1197)Gag>Aag p.E399K RBPJ_uc003gry.2_Missense_Mutation_p.E384K|RBPJ_uc003grz.2_Missense_Mutation_p.E399K|RBPJ_uc003gsa.2_Missense_Mutation_p.E385K|RBPJ_uc003gsb.2_Missense_Mutation_p.E386K NM_005349 NP_005340 Q06330 SUH_HUMAN Homo sapiens recombination signal binding protein for immunoglobulin kappa J region (RBPJ), transcript variant 1, mRNA. 399 IPT/TIG. DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target cytoplasm|nucleolus|nucleoplasm DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity p.R398G(1) central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1) 15 Breast(46;0.0503) CAGGTGTGGAGAGAGTATGCT 0.408000 5 56 0 0 1 0 0 WDR34 89891 broad.mit.edu 37 9 131397416 131397416 + Silent SNP G G A TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr9:131397416G>A uc004bvq.1 - 5 1060 c.936C>T c.(934-936)ttC>ttT p.F312F NM_052844 NP_443076 Q96EX3 WDR34_HUMAN Homo sapiens WD repeat domain 34 (WDR34), mRNA. 312 cytoplasm central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1) 9 TGACCAGGGCGAAGCCCTCTG 0.672000 OREG0019522 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 47 0 0 1 0 0 USP45 85015 broad.mit.edu 37 6 99924037 99924037 + Silent SNP C C G TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr6:99924037C>G uc003ppx.2 - 8 1448 c.915G>C c.(913-915)gtG>gtC p.V305V USP45_uc003ppw.2_Silent_p.V43V|USP45_uc010kcq.2_Silent_p.V305V NM_001080481 NP_001073950 Q70EL2 UBP45_HUMAN Homo sapiens ubiquitin specific peptidase 45 (USP45), mRNA. 305 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 22 all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133) BRCA - Breast invasive adenocarcinoma(108;0.0718) CTTCTGTCCTCACTGCATCCA 0.408000 8 45 0 0 1 0 0 KAT2A 2648 broad.mit.edu 37 17 40271403 40271403 + Silent SNP G G A TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr17:40271403G>A uc002hyx.2 - 5 993 c.933C>T c.(931-933)taC>taT p.Y311Y NM_021078 NP_066564 Q92830 KAT2A_HUMAN Homo sapiens K(lysine) acetyltransferase 2A (KAT2A), mRNA. 311 chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity p.R310R(1) central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 GAGTGGTTTCGTAGCGGGGGA 0.582000 44 69 0 0 1 0 0 ATG9A 79065 broad.mit.edu 37 2 220089873 220089873 + Missense_Mutation SNP G G A TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr2:220089873G>A uc002vke.1 - 6 622 c.436C>T c.(436-438)Cgg>Tgg p.R146W ATG9A_uc002vkd.1_Non-coding_Transcript|ATG9A_uc002vkf.1_Missense_Mutation_p.R146W NM_001077198 NP_076990 Q7Z3C6 ATG9A_HUMAN Homo sapiens ATG9 autophagy related 9 homolog A (S. cerevisiae) (ATG9A), transcript variant 1, mRNA. 146 autophagic vacuole assembly|protein transport Golgi apparatus|autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|late endosome membrane endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1) 13 Renal(207;0.0474) Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TTGATAAGCCGGTGGATCCAG 0.522000 4 93 0 0 1 0 0 CNR2 1269 broad.mit.edu 37 1 24201958 24201958 + Missense_Mutation SNP C C G TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr1:24201958C>G uc001bif.3 - 1 277 c.150G>C c.(148-150)gaG>gaC p.E50D CNR2_uc021oij.1_Missense_Mutation_p.E50D NM_001841 NP_001832 P34972 CNR2_HUMAN Homo sapiens cannabinoid receptor 2 (macrophage) (CNR2), mRNA. 50 G-protein signaling, coupled to cyclic nucleotide second messenger|behavior|immune response|inflammatory response dendrite|integral to plasma membrane|perikaryon cannabinoid receptor activity p.E50E(3) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2) 26 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146) Nabilone(DB00486) CAGCCACGTTCTCCAGGGCAC 0.557000 6 67 0 0 1 0 0 SEMA3A 10371 broad.mit.edu 37 7 83764225 83764225 + Missense_Mutation SNP G G C TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr7:83764225G>C uc003uhz.3 - 1 470 c.155C>G c.(154-156)gCc>gGc p.A52G NM_006080 NP_006071 Q14563 SEM3A_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A (SEMA3A), mRNA. 52 Sema. axon guidance extracellular region|membrane receptor activity breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 GGAGCTGTTGGCCAAGCCATT 0.393000 22 34 0 0 1 0 0 GIMAP1-GIMAP5 100527949 broad.mit.edu 37 7 150439358 150439358 + Missense_Mutation SNP G G T TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr7:150439358G>T uc022apw.1 + 5 883 c.743G>T c.(742-744)gGg>gTg p.G248V GIMAP1-GIMAP5_uc003whr.2_Missense_Mutation_p.G44V NM_001199577 NP_001186506 Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA. AGTGCCACAGGGAACAGCATC 0.527000 9 52 0 0 1 0 0 NISCH 11188 broad.mit.edu 37 3 52526412 52526412 + Missense_Mutation SNP G G A TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr3:52526412G>A uc003ded.4 + 20 4563 c.4429G>A c.(4429-4431)Gag>Aag p.E1477K NISCH_uc003dee.4_Missense_Mutation_p.E966K|NISCH_uc003deg.1_Intron|STAB1_uc003dei.1_5'Flank|STAB1_uc003dej.3_5'Flank NM_007184 NP_009115 Q9Y2I1 NISCH_HUMAN Homo sapiens nischarin (NISCH), mRNA. 1477 apoptosis|cell communication cytosol|early endosome|plasma membrane|recycling endosome phosphatidylinositol binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 33 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) CCCCAGTGCTGAGAGCAGAGA 0.662000 39 105 0 0 1 0 0 FCF1 51077 broad.mit.edu 37 14 75190043 75190043 + Missense_Mutation SNP C C G TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr14:75190043C>G uc001xqh.3 + 4 412 c.361C>G c.(361-363)Cta>Gta p.L121V FCF1_uc001xqf.1_Missense_Mutation_p.L106V|FCF1_uc001xqi.3_Non-coding_Transcript NM_015962 NP_057046 Q9Y324 FCF1_HUMAN Homo sapiens FCF1 small subunit (SSU) processome component homolog (S. cerevisiae) (FCF1), mRNA. 121 PINc. rRNA processing nucleolus breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1) 8 BRCA - Breast invasive adenocarcinoma(234;0.0037) TCGAGTGGCTCTAAGGTAGGA 0.378000 9 32 0 0 1 0 0 ABL2 27 broad.mit.edu 37 1 179077163 179077163 + Nonsense_Mutation SNP G G C TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr1:179077163G>C uc001gmj.4 - 11 3526 c.3239C>G c.(3238-3240)tCa>tGa p.S1080* ABL2_uc010pnf.2_Nonsense_Mutation_p.S977*|ABL2_uc010png.2_Nonsense_Mutation_p.S956*|ABL2_uc010pnh.2_Nonsense_Mutation_p.S1059*|ABL2_uc001gmg.4_Nonsense_Mutation_p.S962*|ABL2_uc001gmi.4_Nonsense_Mutation_p.S1065*|ABL2_uc010pne.2_Nonsense_Mutation_p.S941* NM_007314 NP_009298 P42684 ABL2_HUMAN Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA. 1080 F-actin-binding (By similarity). axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 65 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) TTTGTCTGCTGAGATTTTCTC 0.532000 T ETV6 AML 8 37 0 0 1 0 0 ZNF512 84450 broad.mit.edu 37 2 27822493 27822493 + Silent SNP G G A TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr2:27822493G>A uc002rla.3 + 3 408 c.321G>A c.(319-321)caG>caA p.Q107Q ZNF512_uc010ylw.2_Silent_p.Q106Q|ZNF512_uc002rlb.3_Silent_p.Q28Q|ZNF512_uc010ylx.2_Silent_p.Q28Q|ZNF512_uc002rlc.3_Silent_p.Q28Q|ZNF512_uc010ylv.2_Silent_p.Q28Q|ZNF512_uc010yly.1_Non-coding_Transcript|ZNF512_uc010ylz.2_Silent_p.Q28Q NM_032434 NP_115810 Q96ME7 ZN512_HUMAN Homo sapiens zinc finger protein 512 (ZNF512), mRNA. 107 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155) AACCCAGGCAGGAAGAAGATG 0.408000 4 49 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152325779 152325779 + Missense_Mutation SNP C C T TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr1:152325779C>T uc001ezw.4 - 2 4556 c.4483G>A c.(4483-4485)Gga>Aga p.G1495R AK056431_uc001ezv.3_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN Homo sapiens filaggrin family member 2 (FLG2), mRNA. 1495 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) CCCCTTCTTCCAGTTGTACTG 0.522000 10 414 0 0 1 0 0 FAP 2191 broad.mit.edu 37 2 163039925 163039925 + Splice_Site SNP C C G TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr2:163039925C>G uc002ucd.3 - 21 2077 c.1869_splice c.e21+1 p.W623_splice FAP_uc010fpc.3_Splice_Site_p.W172_splice|FAP_uc010zct.2_Splice_Site_p.W598_splice NM_004460 NP_004451 Q12884 SEPR_HUMAN Homo sapiens fibroblast activation protein, alpha (FAP), mRNA. 623 endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4) 63 ACAACTCACCCAGCCCCATAT 0.303000 3 108 0 0 1 0 0 PPAN-P2RY11 692312 broad.mit.edu 37 19 10221422 10221422 + Missense_Mutation SNP G G A TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr19:10221422G>A uc002mna.3 + 10 1253 c.1081G>A c.(1081-1083)Gaa>Aaa p.E361K PPAN-P2RY11_uc010xla.2_Missense_Mutation_p.E361K|PPAN-P2RY11_uc002mnc.3_5'Flank|PPAN-P2RY11_uc002mmz.2_Missense_Mutation_p.E361K NM_001040664 NP_001035754 Q9NQ55 SSF1_HUMAN Homo sapiens PPAN-P2RY11 readthrough (PPAN-P2RY11), transcript variant 1, mRNA. 361 RNA splicing nucleolus protein binding breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 31 OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05) GGGTAGTGATGAAGAGGCCTC 0.602000 7 91 0 0 1 0 0 GRIK1 2897 broad.mit.edu 37 21 30961208 30961208 + Missense_Mutation SNP T T G TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr21:30961208T>G uc011acs.2 - 10 1984 c.1520A>C c.(1519-1521)cAg>cCg p.Q507P GRIK1_uc002ynn.3_Missense_Mutation_p.Q492P|GRIK1_uc011act.2_Intron|GRIK1_uc002yno.1_Missense_Mutation_p.Q507P|GRIK1_uc010glq.1_Missense_Mutation_p.Q350P NM_000830 NP_000821 P39086 GRIK1_HUMAN Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA. 507 central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 45 L-Glutamic Acid(DB00142)|Topiramate(DB00273) TTTGTCATTCTGGGCCCCATA 0.368000 15 78 0 0 1 0 0 PLCXD1 55344 broad.mit.edu 37 X 209756 209756 + Missense_Mutation SNP T T C TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chrX:209756T>C uc004cpc.3 + 5 916 c.604T>C c.(604-606)Tat>Cat p.Y202H PLCXD1_uc011mgx.2_Non-coding_Transcript NM_018390 NP_060860 Q9NUJ7 PLCX1_HUMAN Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 1 (PLCXD1), transcript variant 1, mRNA. 202 PI-PLC X-box. intracellular signal transduction|lipid metabolic process phospholipase C activity endometrium(3)|large_intestine(1)|lung(7) 11 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CATCGTCTCCTATGAAGACGA 0.632000 3 49 0 0 1 0 0 LZTR1 8216 broad.mit.edu 37 22 21340177 21340177 + Missense_Mutation SNP C C G TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr22:21340177C>G uc002zto.3 + 2 414 c.311C>G c.(310-312)tCc>tGc p.S104C LZTR1_uc002ztn.3_Missense_Mutation_p.S63C|LZTR1_uc011ahy.2_Intron|LZTR1_uc010gsr.1_5'Flank NM_006767 NP_006758 Q8N653 LZTR1_HUMAN Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA. 104 anatomical structure morphogenesis sequence-specific DNA binding transcription factor activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3) 42 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) AAAGACTGCTCCTGGTGCAGG 0.582000 6 32 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 25 28 0 0 1 0 0 INTS9 55756 broad.mit.edu 37 8 28635438 28635438 + Missense_Mutation SNP G G C TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr8:28635438G>C uc003xha.3 - 12 1602 c.1303C>G c.(1303-1305)Cct>Gct p.P435A INTS9_uc011lav.2_Missense_Mutation_p.P411A|INTS9_uc011law.2_Missense_Mutation_p.P414A|INTS9_uc011lax.2_Missense_Mutation_p.P328A|INTS9_uc010lvc.3_Non-coding_Transcript NM_018250 NP_001166033 Q9NV88 INT9_HUMAN Homo sapiens integrator complex subunit 9 (INTS9), transcript variant 1, mRNA. 435 snRNA processing integrator complex protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2) 19 Ovarian(32;0.0439) KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152) GGCTGGTAAGGAGCCAGGGCT 0.502000 8 43 0 0 1 0 0 DOCK11 139818 broad.mit.edu 37 X 117819739 117819739 + Missense_Mutation SNP G G A TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chrX:117819739G>A uc004eqp.2 + 52 6254 c.6191G>A c.(6190-6192)gGt>gAt p.G2064D DOCK11_uc004eqq.2_Missense_Mutation_p.G1843D NM_144658 NP_653259 Q5JSL3 DOC11_HUMAN Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA. 2064 blood coagulation cytosol GTP binding p.R2063Q(1)|p.R2063R(1) breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 AGTGACCGAGGTTATGGTTCC 0.403000 71 89 0 0 1 0 0 RNF2 6045 broad.mit.edu 37 1 185060797 185060797 + Missense_Mutation SNP G G C rs144442502 byFrequency TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr1:185060797G>C uc001grc.1 + 2 407 c.174G>C c.(172-174)ttG>ttC p.L58F RNF2_uc001grd.1_Missense_Mutation_p.L58F NM_007212 NP_009143 Q99496 RING2_HUMAN Homo sapiens ring finger protein 2 (RNF2), mRNA. 58 Interaction with HIP2. histone H2A monoubiquitination|transcription, DNA-dependent MLL1 complex|PcG protein complex|ubiquitin ligase complex RING-like zinc finger domain binding|zinc ion binding breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2) 14 Breast(1374;0.000496) Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06) TGGATATGTTGAAGAACACCA 0.388000 7 141 0 0 1 0 0 NISCH 11188 broad.mit.edu 37 3 52526232 52526232 + Missense_Mutation SNP G G A TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr3:52526232G>A uc003ded.4 + 20 4383 c.4249G>A c.(4249-4251)Gac>Aac p.D1417N NISCH_uc003dee.4_Missense_Mutation_p.D906N|NISCH_uc003deg.1_Intron NM_007184 NP_009115 Q9Y2I1 NISCH_HUMAN Homo sapiens nischarin (NISCH), mRNA. 1417 apoptosis|cell communication cytosol|early endosome|plasma membrane|recycling endosome phosphatidylinositol binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 33 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) CCGGGACCTGGACCGAGTGCT 0.637000 27 112 0 0 1 0 0 NCKIPSD 51517 broad.mit.edu 37 3 48716069 48716069 + Missense_Mutation SNP G G C TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr3:48716069G>C uc003cun.3 - 11 1987 c.1893C>G c.(1891-1893)ttC>ttG p.F631L NCKIPSD_uc003cum.3_Missense_Mutation_p.F624L NM_016453 NP_057537 Q9NZQ3 SPN90_HUMAN Homo sapiens NCK interacting protein with SH3 domain (NCKIPSD), transcript variant 1, mRNA. 631 NLS-bearing substrate import into nucleus|cytoskeleton organization|signal transduction intermediate filament|nucleus SH3 domain binding|cytoskeletal protein binding endometrium(1)|large_intestine(3)|lung(6)|prostate(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CTGTGTGGTAGAAGATGGCAG 0.582000 12 58 0 0 1 0 0 NFATC2 4773 broad.mit.edu 37 20 50071158 50071158 + Silent SNP G G A rs146686251 by1000genomes TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr20:50071158G>A uc002xwd.3 - 5 1996 c.1776C>T c.(1774-1776)ggC>ggT p.G592G NFATC2_uc002xwc.3_Silent_p.G592G|NFATC2_uc010zyv.2_Silent_p.G373G|NFATC2_uc010zyw.2_Silent_p.G373G|NFATC2_uc002xwe.3_Silent_p.G572G|NFATC2_uc010zyx.2_Silent_p.G572G|NFATC2_uc010zyy.2_Silent_p.G373G|NFATC2_uc010zyz.2_Silent_p.G373G|MIR3194_uc021weu.1_5'Flank NM_173091 NP_775114 Q13469 NFAC2_HUMAN Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA. 592 B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity p.G592G(2) EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) TTTGCTGGCCGCCATAGACCA 0.502000 5 171 0 0 1 0 0 LONRF1 91694 broad.mit.edu 37 8 12594452 12594452 + Silent SNP C C G TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr8:12594452C>G uc003wwd.1 - 4 1374 c.1311G>C c.(1309-1311)gtG>gtC p.V437V LONRF1_uc011kxv.1_Silent_p.V37V|LONRF1_uc010lsp.1_Silent_p.V37V NM_152271 NP_689484 Q17RB8 LONF1_HUMAN Homo sapiens LON peptidase N-terminal domain and ring finger 1 (LONRF1), mRNA. 437 proteolysis ATP-dependent peptidase activity|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2) 19 READ - Rectum adenocarcinoma(644;0.236) CATTTACAATCACATCCTGTT 0.318000 12 26 0 0 1 0 0 EVPL 2125 broad.mit.edu 37 17 74005905 74005905 + Missense_Mutation SNP G G C TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr17:74005905G>C uc010wss.1 - 21 3675 c.3447C>G c.(3445-3447)atC>atG p.I1149M EVPL_uc002jqi.2_Missense_Mutation_p.I1127M|EVPL_uc010wst.1_Missense_Mutation_p.I597M NM_001988 NP_001979 Q92817 EVPL_HUMAN Homo sapiens envoplakin (EVPL), mRNA. 1127 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 CCACCGAGCTGATAGCCCGCT 0.642000 18 39 0 0 1 0 0 VEZT 55591 broad.mit.edu 37 12 95660246 95660246 + Missense_Mutation SNP G G C TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr12:95660246G>C uc001tdz.2 + 4 653 c.548G>C c.(547-549)aGa>aCa p.R183T VEZT_uc001tds.3_Missense_Mutation_p.R135T|VEZT_uc001tdv.3_Missense_Mutation_p.R152T|VEZT_uc009zsy.1_Missense_Mutation_p.R25T|VEZT_uc001tdr.2_Missense_Mutation_p.R25T|VEZT_uc001tdt.2_Missense_Mutation_p.R135T|VEZT_uc009zsz.1_Missense_Mutation_p.R183T|VEZT_uc001tdw.1_Missense_Mutation_p.R135T|VEZT_uc009zta.1_Missense_Mutation_p.R135T NM_017599 NP_060069 Q9HBM0 VEZA_HUMAN Homo sapiens vezatin, adherens junctions transmembrane protein (VEZT), transcript variant 1, mRNA. 183 acrosomal vesicle|adherens junction|integral to membrane|nucleus endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1) 23 CTGGTCATAAGAGCTTTGAGA 0.428000 38 224 0 0 1 0 0 RBM14 10432 broad.mit.edu 37 11 66407597 66407597 + Missense_Mutation SNP G G A TCGA-ET-A2MY-01A-11D-A18F-08 TCGA-ET-A2MY-11B-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1dfb93-1d3a-4375-9761-d0855e467838 37a19a61-8465-457c-938e-67993fcc4646 g.chr11:66407597G>A uc001oiv.3 + 1 563 c.415G>A c.(415-417)Gaa>Aaa p.E139K RBM14_uc009yrj.3_Intron|RBM14_uc009yrk.3_Intron|RBM14_uc021qmb.1_Intron|RBM14_uc001oiw.2_Intron|RBM14_uc001oix.2_Intron|RBM14_uc010rpj.2_Intron|RBM14_uc001oiz.2_Intron NM_001198843 NP_001185772 Q96PK6 RBM14_HUMAN Homo sapiens RNA binding motif protein 4 (RBM4), transcript variant 2, mRNA. 145 RRM 2. DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus mediator complex|ribonucleoprotein complex|transcription factor complex RNA binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging RBM14/PACS1(2) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 17 GTTTCAAGGTGAACCACCCTC 0.488000 10 67 0 0 1 0 0