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 PLA2G4E 123745 broad.mit.edu 37 15 42279575 42279575 + Splice_Site SNP T T G TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr15:42279575T>G ENST00000399518.3 - 17 2318 c.e17-2 CTD-2382E5.1_ENST00000499478.2_RNA|PLA2G4E_ENST00000413860.2_Splice_Site NM_001206670.1 NP_001193599.1 Q3MJ16 PA24E_HUMAN phospholipase A2, group IVE phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1) 16 all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273) OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06) GCTCGTCTTCTGCAGGGGAGG 0.577000 4 12 0 0 1 0 0 MYBPC3 4607 broad.mit.edu 37 11 47360181 47360181 + Missense_Mutation SNP C C T TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr11:47360181C>T ENST00000545968.1 - 23 2252 c.2198G>A c.(2197-2199)cGc>cAc p.R733H MYBPC3_ENST00000256993.4_Missense_Mutation_p.R732H|MYBPC3_ENST00000399249.2_Missense_Mutation_p.R733H NM_000256.3 NP_000247.2 Q14896 MYPC3_HUMAN myosin binding protein C, cardiac 732 Ig-like C2-type 5. cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2) 42 Lung(87;0.176) GAAGATGCTGCGGTCCTTGGT 0.632000 3 18 0 0 1 0 0 PCDHGA1 0 broad.mit.edu 37 5 140712441 140712441 + Silent SNP C C T TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr5:140712441C>T ENST00000517417.1 + 1 2190 c.2190C>T c.(2188-2190)ggC>ggT p.G730G PCDHGA1_ENST00000378105.3_Silent_p.G730G NM_018912.2 NP_061735.1 p.G730G(4) breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTTCGGGAGGCGGCTTAGCGA 0.662000 13 75 0 0 1 0 0 JAKMIP1 152789 broad.mit.edu 37 4 6066624 6066624 + Missense_Mutation SNP C C T TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr4:6066624C>T ENST00000409021.3 - 9 1863 c.1414G>A c.(1414-1416)Gaa>Aaa p.E472K JAKMIP1_ENST00000282924.5_Missense_Mutation_p.E472K|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.E287K|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.E307K|JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.E472K NM_001099433.1 NP_001092903.1 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 1 472 Mediates interaction with TYK2 and GABBR1. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 AAGTCTTCTTCGGGCGTGGCT 0.532000 6 41 0 0 1 0 0 ARHGEF17 9828 broad.mit.edu 37 11 73020726 73020726 + Missense_Mutation SNP C C T TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr11:73020726C>T ENST00000263674.3 + 1 1393 c.1043C>T c.(1042-1044)tCt>tTt p.S348F NM_014786.3 NP_055601.2 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 348 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32 GGTAGTGGCTCTCCGCCCTGC 0.612000 21 39 0 0 1 0 0 XIRP1 165904 broad.mit.edu 37 3 39225934 39225934 + Missense_Mutation SNP G G A TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr3:39225934G>A ENST00000340369.3 - 2 5231 c.5003C>T c.(5002-5004)tCc>tTc p.S1668F XIRP1_ENST00000421646.1_Missense_Mutation_p.S351F|XIRP1_ENST00000396251.1_3'UTR NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 1668 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) TGTTGGGGAGGAGGGAGAATC 0.537000 13 61 0 0 1 0 0 TMEM31 203562 broad.mit.edu 37 X 102968708 102968708 + Missense_Mutation SNP T T A TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chrX:102968708T>A ENST00000319560.6 + 3 480 c.289T>A c.(289-291)Ttt>Att p.F97I GLRA4_ENST00000372617.4_Intron NM_182541.2 NP_872347.2 Q5JXX7 TMM31_HUMAN transmembrane protein 31 97 integral to membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(3) 7 TTATCCTGAATTTCTTCTGGT 0.463000 18 34 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21063004 21063004 + Missense_Mutation SNP C C T TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr16:21063004C>T ENST00000261383.3 - 29 4224 c.4225G>A c.(4225-4227)Gac>Aac p.D1409N DNAH3_ENST00000415178.1_Missense_Mutation_p.D1409N NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1409 AAA 1 (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) TAGCAGCGGTCGGTGAGGGGT 0.562000 24 47 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100371059 100371059 + RNA SNP C C A TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr7:100371059C>A ENST00000542585.1 + 0 5725 ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) TGAGTGGAACCTCCTGCGTGC 0.632000 13 16 2.27111e-07 2.44924e-07 1 1 0 GJC1 10052 broad.mit.edu 37 17 42882370 42882370 + Silent SNP C C G TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr17:42882370C>G ENST00000426548.1 - 3 1085 c.816G>C c.(814-816)ccG>ccC p.P272P GJC1_ENST00000592524.1_Silent_p.P272P|GJC1_ENST00000590758.1_Silent_p.P272P|GJC1_ENST00000330514.4_Silent_p.P272P NM_001080383.1|NM_005497.3 NP_001073852.1|NP_005488.2 P36383 CXG1_HUMAN gap junction protein, gamma 1, 45kDa 272 cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport connexon complex|integral to membrane NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1) 19 Prostate(33;0.0959) TATAAGCACCCGGATCCTCAA 0.453000 22 73 0 0 1 0 0 GRM8 0 broad.mit.edu 37 7 126746596 126746596 + Nonsense_Mutation SNP A A T TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr7:126746596A>T ENST00000339582.2 - 3 1489 c.681T>A c.(679-681)taT>taA p.Y227* GRM8_ENST00000405249.1_Nonsense_Mutation_p.Y227*|GRM8_ENST00000358373.3_Nonsense_Mutation_p.Y227*|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Nonsense_Mutation_p.Y227* O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 227 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) CGCTCTCACCATAGTTCCCCT 0.507000 HNSCC(24;0.065) 12 26 0 0 1 0 0 GRIA2 2891 broad.mit.edu 37 4 158224787 158224787 + Missense_Mutation SNP G G A TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr4:158224787G>A ENST00000296526.7 + 3 638 c.313G>A c.(313-315)Gga>Aga p.G105R GRIA2_ENST00000507898.1_Missense_Mutation_p.G58R|GRIA2_ENST00000449365.1_Missense_Mutation_p.G58R|GRIA2_ENST00000264426.9_Missense_Mutation_p.G105R|GRIA2_ENST00000393815.2_Missense_Mutation_p.G58R|GRIA2_ENST00000504801.1_3'UTR NM_000826.3 NP_000817.2 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 105 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity p.G105*(2) NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) ATCATTTTGCGGAACACTCCA 0.438000 11 61 0 0 1 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125281979 125281979 + Missense_Mutation SNP C C T TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr2:125281979C>T ENST00000431078.1 + 9 1788 c.1424C>T c.(1423-1425)cCa>cTa p.P475L NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 475 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding 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) CCCCCGGCTCCAGACAGCACT 0.483000 6 27 0 0 1 0 0 TIGD3 220359 broad.mit.edu 37 11 65124205 65124205 + Missense_Mutation SNP G G A TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr11:65124205G>A ENST00000309880.5 + 2 1133 c.926G>A c.(925-927)cGa>cAa p.R309Q NM_145719.2 NP_663771.1 Q6B0B8 TIGD3_HUMAN tigger transposable element derived 3 309 DDE. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2) 17 GCCCATTACCGACACCGGCTG 0.667000 8 23 0 0 1 0 0 TCERG1 10915 broad.mit.edu 37 5 145890149 145890149 + Missense_Mutation SNP C C G TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr5:145890149C>G ENST00000296702.5 + 22 3279 c.3241C>G c.(3241-3243)Cgg>Ggg p.R1081G TCERG1_ENST00000394421.2_Missense_Mutation_p.R1060G NM_006706.3 NP_006697.2 O14776 TCRG1_HUMAN transcription elongation regulator 1 1081 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1) 46 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCTGGATCGCCGGGGTCCACC 0.463000 6 30 0 0 1 0 0 NUP214 8021 broad.mit.edu 37 9 134077101 134077101 + Silent SNP C C T TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr9:134077101C>T ENST00000359428.5 + 30 5733 c.5589C>T c.(5587-5589)ggC>ggT p.G1863G NUP214_ENST00000483497.2_Silent_p.G689G|NUP214_ENST00000451030.1_Silent_p.G1864G|NUP214_ENST00000411637.2_Silent_p.G1853G P35658 NU214_HUMAN nucleoporin 214kDa 1863 11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 86 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) TAGTCTTTGGCCAGGTAAATA 0.358000 T """DEK, SET, ABL1""" """AML, T-ALL""" 5 74 0 0 1 0 0 CSRNP1 64651 broad.mit.edu 37 3 39186547 39186547 + Missense_Mutation SNP G G A TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr3:39186547G>A ENST00000273153.5 - 3 583 c.406C>T c.(406-408)Cgg>Tgg p.R136W CSRNP1_ENST00000514182.1_Missense_Mutation_p.R136W NM_033027.3 NP_149016.2 Q96S65 CSRN1_HUMAN cysteine-serine-rich nuclear protein 1 136 apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3) 24 TTCTCGTGCCGTGCACGGGCT 0.612000 13 20 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547138 132547138 + Silent SNP A A G rs35873108 byFrequency TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr12:132547138A>G ENST00000333577.4 + 48 8443 c.8334A>G c.(8332-8334)caA>caG p.Q2778Q EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000330386.6_Silent_p.Q2661Q Q96L91 EP400_HUMAN E1A binding protein p400 2778 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2741Q(3)|p.Q2742Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcaacagcagcagc 0.602000 3 39 0 0 1 0 0 RP11-252A24.2 0 broad.mit.edu 37 16 74372644 74372644 + RNA SNP A A G TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr16:74372644A>G ENST00000429810.2 - 0 1552 TACCCTTGTCAGGGGGAACAA 0.443000 4 31 0 0 1 0 0 MNT 4335 broad.mit.edu 37 17 2298503 2298503 + Silent SNP A A G TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr17:2298503A>G ENST00000174618.4 - 2 724 c.319T>C c.(319-321)Ttg>Ctg p.L107L NM_020310.2 NP_064706.1 Q99583 MNT_HUMAN MAX network transcriptional repressor 107 multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 12 Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05) GCCGCgggcaagggtgggggt 0.711000 2 2 0 0 1 0 0 SLC16A7 9194 broad.mit.edu 37 12 60173227 60173227 + Missense_Mutation SNP G G A TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr12:60173227G>A ENST00000261187.4 + 5 1368 c.1204G>A c.(1204-1206)Gaa>Aaa p.E402K SLC16A7_ENST00000547379.1_Missense_Mutation_p.E402K|SLC16A7_ENST00000552024.1_Missense_Mutation_p.E402K|SLC16A7_ENST00000543448.1_Missense_Mutation_p.E303K|SLC16A7_ENST00000552432.1_Missense_Mutation_p.E402K NM_001270622.1|NM_001270623.1|NM_004731.3 NP_001257551.1|NP_001257552.1|NP_004722.2 O60669 MOT2_HUMAN solute carrier family 16 (monocarboxylate transporter), member 7 402 integral to plasma membrane|membrane fraction pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity p.E402*(1) endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1) 30 GBM - Glioblastoma multiforme(3;0.0303) Pyruvic acid(DB00119) TTTAACTGGAGAATATAAATA 0.343000 13 30 0 0 1 0 0 GIGYF2 26058 broad.mit.edu 37 2 233677165 233677165 + Missense_Mutation SNP A A G TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr2:233677165A>G ENST00000373566.3 + 19 2334 c.2137A>G c.(2137-2139)Atc>Gtc p.I713V GIGYF2_ENST00000452341.2_Missense_Mutation_p.I522V|GIGYF2_ENST00000409480.1_Missense_Mutation_p.I713V|GIGYF2_ENST00000409451.3_Missense_Mutation_p.I712V|GIGYF2_ENST00000409196.3_Missense_Mutation_p.I685V|GIGYF2_ENST00000373563.4_Missense_Mutation_p.I691V|GIGYF2_ENST00000409547.1_Missense_Mutation_p.I691V Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 691 Gln-rich. cell death protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 63 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) TACTGGCTCTATCTGGGAGCT 0.383000 5 26 0 0 1 0 0 SOX1 6656 broad.mit.edu 37 13 112722311 112722311 + Silent SNP G G A TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr13:112722311G>A ENST00000330949.1 + 1 399 c.339G>A c.(337-339)aaG>aaA p.K113K NM_005986.2 NP_005977.2 O00570 SOX1_HUMAN SRY (sex determining region Y)-box 1 113 chromatin organization nucleus core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity lung(4) 4 all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231) OV - Ovarian serous cystadenocarcinoma(48;0.132) TGCACATGAAGGAGCACCCGG 0.677000 5 26 0 0 1 0 0 PIWIL2 55124 broad.mit.edu 37 8 22137065 22137065 + Missense_Mutation SNP G G A TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr8:22137065G>A ENST00000356766.6 + 2 314 c.166G>A c.(166-168)Gaa>Aaa p.E56K PIWIL2_ENST00000454009.2_Missense_Mutation_p.E56K|PIWIL2_ENST00000521356.1_Missense_Mutation_p.E56K NM_018068.3 NP_060538.2 Q8TC59 PIWL2_HUMAN piwi-like RNA-mediated gene silencing 2 56 DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis chromatoid body|pi-body piRNA binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 46 Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707) AAAGCCAGAGGAACCAAGCAC 0.562000 11 21 0 0 1 0 0 UBXN4 23190 broad.mit.edu 37 2 136527363 136527363 + Silent SNP G G A TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr2:136527363G>A ENST00000272638.9 + 7 938 c.627G>A c.(625-627)agG>agA p.R209R UBXN4_ENST00000490163.1_3'UTR NM_014607.3 NP_055422.1 Q92575 UBXN4_HUMAN UBX domain protein 4 209 response to unfolded protein endoplasmic reticulum membrane|nuclear envelope protein binding NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 24 TTGAAGAAAGGAGAGAAGAGA 0.303000 6 32 0 0 1 0 0 USP42 84132 broad.mit.edu 37 7 6187373 6187373 + Silent SNP C C T TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr7:6187373C>T ENST00000306177.5 + 12 1394 c.1236C>T c.(1234-1236)tcC>tcT p.S412S NM_032172.2 NP_115548.1 Q9H9J4 UBP42_HUMAN ubiquitin specific peptidase 42 412 cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 35 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14) TTTCCAGGTCCCATGATGTGA 0.517000 6 26 0 0 1 0 0 PRSS48 345062 broad.mit.edu 37 4 152212552 152212552 + Missense_Mutation SNP T T G TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr4:152212552T>G ENST00000455694.2 + 5 936 c.934T>G c.(934-936)Tgc>Ggc p.C312G PRSS48_ENST00000441586.2_Missense_Mutation_p.C169G|SH3D19_ENST00000604030.1_Intron NM_183375.2 NP_899231.2 Q7RTY5 PRS48_HUMAN protease, serine, 48 312 proteolysis extracellular region serine-type endopeptidase activity kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1) 8 AGCTGTTGCTTGCATACAGGG 0.498000 13 23 0 0 1 0 0 PIH1D1 55011 broad.mit.edu 37 19 49949662 49949662 + Missense_Mutation SNP G G A TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr19:49949662G>A ENST00000262265.5 - 9 1085 c.850C>T c.(850-852)Ccg>Tcg p.P284S PIH1D1_ENST00000602226.1_5'UTR|PIH1D1_ENST00000596049.1_Missense_Mutation_p.P284S NM_017916.2 NP_060386.1 Q9NWS0 PIHD1_HUMAN PIH1 domain containing 1 284 box C/D snoRNP assembly pre-snoRNP complex NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1) 11 all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244) GGCAGAAGCGGCATGGCCACC 0.522000 3 32 0 0 1 0 0 CIITA 4261 broad.mit.edu 37 16 11000408 11000408 + Silent SNP C C T TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr16:11000408C>T ENST00000324288.8 + 11 1192 c.1059C>T c.(1057-1059)ccC>ccT p.P353P CIITA_ENST00000381835.5_Intron|CIITA_ENST00000537380.1_Intron NM_000246.3 NP_000237.2 P33076 C2TA_HUMAN class II, major histocompatibility complex, transactivator 353 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2) 12 GTGCCGAGCCCGCAGGCCCGG 0.662000 T """FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6""" """PMBL, Hodgkin Lymphona, """ 14 16 0 0 1 0 0 RGS9BP 388531 broad.mit.edu 37 19 33167292 33167292 + Silent SNP A A G TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr19:33167292A>G ENST00000334176.3 + 1 980 c.123A>G c.(121-123)caA>caG p.Q41Q NM_207391.2 NP_997274.2 Q6ZS82 R9BP_HUMAN regulator of G protein signaling 9 binding protein 41 negative regulation of signal transduction integral to membrane central_nervous_system(1)|lung(2) 3 Esophageal squamous(110;0.137) AGGAGCTGCAAAAGACGCGCC 0.706000 7 13 0 0 1 0 0 GRIK3 2899 broad.mit.edu 37 1 37346388 37346388 + Missense_Mutation SNP T T G TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr1:37346388T>G ENST00000373091.3 - 3 413 c.397A>C c.(397-399)Atc>Ctc p.I133L GRIK3_ENST00000373093.4_Missense_Mutation_p.I133L NM_000831.3 NP_000822.2 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 133 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) CGCAGCTGGATGTGGGGCACC 0.622000 20 38 0 0 1 0 0 BPIFB4 149954 broad.mit.edu 37 20 31680313 31680313 + Missense_Mutation SNP G G T TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr20:31680313G>T ENST00000375483.3 + 9 1193 c.1193G>T c.(1192-1194)tGg>tTg p.W398L NM_182519.2 NP_872325.2 P59827 LPLC4_HUMAN BPI fold containing family B, member 4 398 cytoplasm|extracellular region lipid binding CCATTGGGGTGGCCAGCTGTG 0.597000 9 17 3.09899e-07 3.27777e-07 1 1 0 NRD1 4898 broad.mit.edu 37 1 52280418 52280418 + Missense_Mutation SNP C C T TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr1:52280418C>T ENST00000354831.7 - 14 1900 c.1711G>A c.(1711-1713)Gtg>Atg p.V571M NRD1_ENST00000544028.1_Missense_Mutation_p.V371M|NRD1_ENST00000539524.1_Missense_Mutation_p.V439M|NRD1_ENST00000352171.7_Missense_Mutation_p.V503M|NRD1_ENST00000485608.1_5'UTR NM_002525.2 NP_002516.2 O43847 NRDC_HUMAN nardilysin (N-arginine dibasic convertase) 502 cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity cell surface|cytosol epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1) 27 ATGCTGAACACTGAATAAGTA 0.353000 12 18 0 0 1 0 0 PCSK2 5126 broad.mit.edu 37 20 17207956 17207956 + Missense_Mutation SNP G G C TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr20:17207956G>C ENST00000262545.2 + 1 321 c.6G>C c.(4-6)aaG>aaC p.K2N PCSK2_ENST00000536609.1_Missense_Mutation_p.K2N|PCSK2_ENST00000377899.1_Intron NM_002594.3 NP_002585.2 P16519 NEC2_HUMAN proprotein convertase subtilisin/kexin type 2 2 enkephalin processing|insulin processing|islet amyloid polypeptide processing extracellular space|membrane|soluble fraction|transport vesicle serine-type endopeptidase activity breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GAAGGATGAAGGGTGGTTGTG 0.532000 9 38 0 0 1 0 0 SLC8A1 6546 broad.mit.edu 37 2 40657386 40657386 + Missense_Mutation SNP G G C rs142661656 byFrequency TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr2:40657386G>C ENST00000406785.1 - 2 224 c.35C>G c.(34-36)aCc>aGc p.T12S SLC8A1_ENST00000408028.2_Missense_Mutation_p.T12S|SLC8A1_ENST00000403092.1_Missense_Mutation_p.T12S|SLC8A1_ENST00000402441.1_Missense_Mutation_p.T12S|SLC8A1_ENST00000332839.4_Missense_Mutation_p.T12S|SLC8A1_ENST00000542756.1_Missense_Mutation_p.T12S|SLC8A1_ENST00000542024.1_Missense_Mutation_p.T12S|SLC8A1_ENST00000406391.2_Missense_Mutation_p.T12S|SLC8A1_ENST00000405901.3_Missense_Mutation_p.T12S|SLC8A1_ENST00000405269.1_Missense_Mutation_p.T12S P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 12 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) CATTGAAAAGGTGGGTGAAAG 0.408000 9 30 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40354448 40354448 + Missense_Mutation SNP G G A rs145000879 byFrequency TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr19:40354448G>A ENST00000221347.6 - 35 16028 c.16021C>T c.(16021-16023)Cgc>Tgc p.R5341C NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 5341 VWFD 13. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GCCTTCTGGCGGACTAGCAGG 0.582000 11 10 0 0 1 0 0 FGB 2244 broad.mit.edu 37 4 155490677 155490677 + Missense_Mutation SNP C C A TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr4:155490677C>A ENST00000302068.4 + 7 1033 c.970C>A c.(970-972)Ctt>Att p.L324I FGB_ENST00000509493.1_Missense_Mutation_p.L105I|FGB_ENST00000502545.1_Intron NM_005141.4 NP_005132.2 P02675 FIBB_HUMAN fibrinogen beta chain 324 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) TGAATATTGGCTTGGAAATGA 0.358000 9 50 2.17888e-05 2.21923e-05 1 1 0 ISOC2 79763 broad.mit.edu 37 19 55967760 55967760 + Missense_Mutation SNP C C T TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr19:55967760C>T ENST00000438389.2 - 2 928 c.94G>A c.(94-96)Gcc>Acc p.A32T ISOC2_ENST00000085068.3_Missense_Mutation_p.A32T|ISOC2_ENST00000425675.2_Missense_Mutation_p.A32T NM_001136202.1 NP_001129674.1 Q96AB3 ISOC2_HUMAN isochorismatase domain containing 2 0 protein destabilization mitochondrion|nucleus catalytic activity|protein binding endometrium(1)|lung(4)|ovary(1)|stomach(1) 7 Breast(117;0.155) BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193) GBM - Glioblastoma multiforme(193;0.0535) GGGAAGTAGGCGATGTTGTGG 0.622000 7 42 0 0 1 0 0 ICAM2 3384 broad.mit.edu 37 17 62081238 62081238 + Missense_Mutation SNP C C T TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr17:62081238C>T ENST00000412356.1 - 5 769 c.415G>A c.(415-417)Gtg>Atg p.V139M ICAM2_ENST00000581417.1_5'UTR|ICAM2_ENST00000579788.1_Missense_Mutation_p.V139M|ICAM2_ENST00000579687.1_Missense_Mutation_p.V139M|ICAM2_ENST00000578892.1_Missense_Mutation_p.V115M|ICAM2_ENST00000578379.1_Missense_Mutation_p.V38M|ICAM2_ENST00000449662.2_Missense_Mutation_p.V139M|ICAM2_ENST00000418105.1_Missense_Mutation_p.V139M|C17orf72_ENST00000412177.1_3'UTR NM_001099786.1 NP_001093256.1 P13598 ICAM2_HUMAN intercellular adhesion molecule 2 139 Ig-like C2-type 2. cell-cell adhesion|regulation of immune response integral to plasma membrane integrin binding large_intestine(1)|lung(2)|ovary(1)|skin(2) 6 AGGGGCTCCACGGTGGGCACC 0.612000 17 20 0 0 1 0 0 IGHV1-69 0 broad.mit.edu 37 14 107169934 107169934 + RNA SNP C C T TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr14:107169934C>T ENST00000390633.2 - 0 408 CTGTGTCTCTCGCACAGTAAT 0.547000 39 255 0 0 1 0 0 CYP2B6 1555 broad.mit.edu 37 19 41510021 41510021 + Missense_Mutation SNP C C A rs144760726 byFrequency TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr19:41510021C>A ENST00000324071.4 + 2 294 c.287C>A c.(286-288)tCt>tAt p.S96Y CYP2B6_ENST00000598834.1_3'UTR|CYP2B6_ENST00000593831.1_Missense_Mutation_p.S20Y|CYP2B6_ENST00000330446.5_Missense_Mutation_p.S56Y NM_000767.4 NP_000758.1 P20813 CP2B6_HUMAN cytochrome P450, family 2, subfamily B, polypeptide 6 96 cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 28 LUSC - Lung squamous cell carcinoma(20;0.00322) Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361) GAGGCCTTCTCTGGCCGGGGA 0.637000 10 49 2.17888e-05 2.21923e-05 1 1 0 TM7SF3 51768 broad.mit.edu 37 12 27143491 27143491 + Missense_Mutation SNP A A G TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr12:27143491A>G ENST00000343028.4 - 6 985 c.760T>C c.(760-762)Tac>Cac p.Y254H TM7SF3_ENST00000542667.1_Intron NM_016551.2 NP_057635.1 Q9NS93 TM7S3_HUMAN transmembrane 7 superfamily member 3 254 integral to membrane|plasma membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Colorectal(261;0.0847) ATGACATTGTATATGACACCT 0.453000 7 52 0 0 1 0 0 YPEL4 219539 broad.mit.edu 37 11 57413471 57413471 + Missense_Mutation SNP C C T TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr11:57413471C>T ENST00000524669.1 - 5 3089 c.367G>A c.(367-369)Gac>Aac p.D123N AP000662.4_ENST00000530595.1_RNA|YPEL4_ENST00000534711.1_Missense_Mutation_p.D123N|YPEL4_ENST00000300022.3_Missense_Mutation_p.D123N|YPEL4_ENST00000544993.1_Missense_Mutation_p.D123N Q96NS1 YPEL4_HUMAN yippee-like 4 (Drosophila) 123 nucleolus lung(2)|skin(1) 3 CAGCCGTTGTCCTTCACCATG 0.547000 22 33 0 0 1 0 0 SHANK1 50944 broad.mit.edu 37 19 51219610 51219610 + Silent SNP G G A TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr19:51219610G>A ENST00000293441.1 - 2 399 c.381C>T c.(379-381)cgC>cgT p.R127R SHANK1_ENST00000359082.3_Silent_p.R127R|SHANK1_ENST00000391814.1_Silent_p.R127R NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 127 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) AGTTGGCATCGCGGCCGGAGG 0.632000 14 37 0 0 1 0 0 BOD1L1 259282 broad.mit.edu 37 4 13582680 13582681 + Splice_Site INS - - A TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr4:13582680_13582681insA ENST00000040738.5 - 21 8804 c.e21-2 NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 DNA binding AGTCGTCTTCTAAAAAAAAAAA 0.337 2 4 --- --- --- --- MYOF 26509 broad.mit.edu 37 10 95072931 95072931 + Frame_Shift_Del DEL G G - TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr10:95072931delG ENST00000371501.4 - 51 5857 c.5735delC c.(5734-5736)ctfs p.P1912fs MYOF_ENST00000371502.4_Frame_Shift_Del_p.P1902fs|MYOF_ENST00000358334.5_Frame_Shift_Del_p.P1899fs|MYOF_ENST00000359263.4_Frame_Shift_Del_p.P1912fs Q9NZM1 MYOF_HUMAN myoferlin 1912 blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 TGATTTTGCAGGAATGATCGT 0.468 71 63 --- --- --- --- ANKRD13A 88455 broad.mit.edu 37 12 110475354 110475354 + Frame_Shift_Del DEL A A - TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b87ca7d-24d1-4192-8562-96b302bb907f f4eca61d-ecdb-483b-bfe1-b1dfd5db648b g.chr12:110475354delA ENST00000261739.4 + 15 1934 c.1768delA c.(1768-1770)aafs p.K590fs C12orf76_ENST00000546651.2_Intron NM_033121.1 NP_149112.1 Q8IZ07 AN13A_HUMAN ankyrin repeat domain 13A 590 endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1) 16 ACTCACTGACAAATAGACCTT 0.572 11 12 --- --- --- ---