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 ALK 238 broad.mit.edu 37 2 29456477 29456477 + Missense_Mutation SNP C C A TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr2:29456477C>A ENST00000389048.3 - 14 3347 c.2441G>T c.(2440-2442)tGg>tTg p.W814L ALK_ENST00000431873.1_Intron NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 814 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) GCCTCCTGCCCACTCATGCAC 0.483000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 4 196 0.00909568 0.0100052 0.150653 1 0 PDE6B 5158 broad.mit.edu 37 4 647918 647918 + Missense_Mutation SNP C C T TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr4:647918C>T ENST00000255622.6 + 5 945 c.902C>T c.(901-903)tCg>tTg p.S301L PDE6B_ENST00000429163.2_Missense_Mutation_p.S22L|RP11-1191J2.2_ENST00000489312.1_RNA|PDE6B_ENST00000496514.1_Missense_Mutation_p.S301L|RP11-1191J2.2_ENST00000468356.1_RNA NM_000283.3|NM_001145291.1 NP_000274.2|NP_001138763.1 P35913 PDE6B_HUMAN phosphodiesterase 6B, cGMP-specific, rod, beta 301 GAF 2. cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 CAGCCGTACTCGGGCCCACGC 0.647000 24 49 0 0 0.760397 0 0 MYL6 4637 broad.mit.edu 37 12 56553401 56553401 + Missense_Mutation SNP G G A TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr12:56553401G>A ENST00000551589.1 + 3 95 c.62G>A c.(61-63)cGa>cAa p.R21Q MYL6_ENST00000549566.1_Intron|MYL6_ENST00000549017.1_5'UTR|MYL6_ENST00000547408.1_Missense_Mutation_p.R21Q|RP11-603J24.18_ENST00000548571.1_RNA|MYL6_ENST00000548580.1_Intron|MYL6_ENST00000293422.5_Missense_Mutation_p.R22Q|MYL6_ENST00000536128.1_Missense_Mutation_p.R114Q|MYL6_ENST00000550697.1_Missense_Mutation_p.R21Q|MYL6_ENST00000547649.1_Missense_Mutation_p.R21Q|MYL6_ENST00000348108.4_Missense_Mutation_p.R22Q|MYL6_ENST00000548293.1_Missense_Mutation_p.R21Q|MYL6_ENST00000548400.1_Missense_Mutation_p.R21Q P60660 MYL6_HUMAN myosin, light chain 6, alkali, smooth muscle and non-muscle 21 EF-hand 1. axon guidance|muscle filament sliding|skeletal muscle tissue development cytosol|unconventional myosin complex actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1) 7 OV - Ovarian serous cystadenocarcinoma(18;0.0979) CTGTTTGACCGAACAGGTGAT 0.547000 4 189 0 0 0.150653 0 0 SZT2 23334 broad.mit.edu 37 1 43888908 43888908 + Missense_Mutation SNP G G A TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr1:43888908G>A ENST00000562955.1 + 15 2176 c.2176G>A c.(2176-2178)Gtg>Atg p.V726M SZT2_ENST00000372442.1_5'UTR NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 726 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 GTCACCCCCCGTGCTGGGGCC 0.617000 18 27 0 0 0.539581 0 0 DDR2 4921 broad.mit.edu 37 1 162741843 162741843 + Missense_Mutation SNP C C T TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr1:162741843C>T ENST00000367922.2 + 14 1972 c.1534C>T c.(1534-1536)Ccc>Tcc p.P512S DDR2_ENST00000367921.3_Missense_Mutation_p.P512S NM_001014796.1 NP_001014796.1 Q16832 DDR2_HUMAN discoidin domain receptor tyrosine kinase 2 512 cell adhesion integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1) 7 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.113) GCCAGTCCAGCCCAGTGGCCC 0.577000 11 16 0 0 0.411799 0 0 SDHAP3 0 broad.mit.edu 37 5 1593264 1593264 + RNA SNP C C T rs111700178 by1000genomes TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr5:1593264C>T ENST00000436493.2 - 0 361 AGGGCACATGCCTGACCAAAG 0.557000 6 61 0 0 0.307466 0 0 TRPM6 140803 broad.mit.edu 37 9 77377508 77377508 + Missense_Mutation SNP G G T TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr9:77377508G>T ENST00000451710.3 - 26 4316 c.4079C>A c.(4078-4080)aCt>aAt p.T1360N TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.T1355N|TRPM6_ENST00000360774.1_Missense_Mutation_p.T1360N|TRPM6_ENST00000449912.2_Missense_Mutation_p.T1355N|TRPM6_ENST00000376864.4_Missense_Mutation_p.T1360N|TRPM6_ENST00000376871.3_Intron Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 1360 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 AGGCAAGACAGTTTCTGCTGA 0.507000 104 160 4.80225e-73 5.72799e-73 0.870114 1 0 MGAM 8972 broad.mit.edu 37 7 141770818 141770818 + Missense_Mutation SNP G G A TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr7:141770818G>A ENST00000475668.2 + 44 5140 c.5086G>A c.(5086-5088)Gag>Aag p.E1696K MGAM_ENST00000549489.2_Intron O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1696 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TGCAAGAGGAGAGTGGAAGAC 0.532000 4 103 0 0 0.150653 0 0 OBSCN 84033 broad.mit.edu 37 1 228431148 228431148 + Missense_Mutation SNP T T C TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr1:228431148T>C ENST00000570156.2 + 11 3544 c.3470T>C c.(3469-3471)cTg>cCg p.L1157P OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.L1065P|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.L1065P NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 95 Ig-like 11. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) TCCTTCCGCCTGCACATCACA 0.547000 11 16 0 0 0.361761 0 0 TMEM170A 124491 broad.mit.edu 37 16 75481522 75481522 + Silent SNP T T G TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr16:75481522T>G ENST00000357613.4 - 3 388 c.300A>C c.(298-300)acA>acC p.T100T TMEM170A_ENST00000567796.1_Silent_p.T78T|RP11-77K12.1_ENST00000567194.1_Intron|TMEM170A_ENST00000561878.1_Silent_p.T123T|RP11-77K12.1_ENST00000561887.1_Intron|TMEM170A_ENST00000566980.1_Silent_p.T55T|TMEM170A_ENST00000569540.1_Silent_p.T85T Q8WVE7 T170A_HUMAN transmembrane protein 170A 123 integral to membrane endometrium(1) 1 CAGTGCCCAGTGTGAGGGCTT 0.408000 65 113 0 0 0.870114 0 0 PCDHGA2 0 broad.mit.edu 37 5 140719281 140719281 + Missense_Mutation SNP G G A TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr5:140719281G>A ENST00000394576.2 + 1 743 c.743G>A c.(742-744)cGc>cAc p.R248H PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCGAGTACCGCATAAGCATT 0.557000 4 152 0 0 0.150653 0 0 MAP3K19 80122 broad.mit.edu 37 2 135745373 135745373 + Nonsense_Mutation SNP G G A TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr2:135745373G>A ENST00000375845.3 - 7 1099 c.1069C>T c.(1069-1071)Cga>Tga p.R357* MAP3K19_ENST00000358371.4_Nonsense_Mutation_p.R244*|MAP3K19_ENST00000392915.1_Nonsense_Mutation_p.R374*|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392918.3_Intron NM_025052.3 NP_079328.3 mitogen-activated protein kinase kinase kinase 19 TCAGGTTTTCGCGTTTTACTA 0.378000 50 69 0 0 0.870114 0 0 PHF3 23469 broad.mit.edu 37 6 64422637 64422637 + Missense_Mutation SNP T T C TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr6:64422637T>C ENST00000262043.3 + 16 5493 c.5153T>C c.(5152-5154)gTt>gCt p.V1718A PHF3_ENST00000393387.1_Missense_Mutation_p.V1718A Q92576 PHF3_HUMAN PHD finger protein 3 1718 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) AATTTAAAAGTTGCACAAAAC 0.368000 3 100 0 0 0.115264 0 0 CARD14 79092 broad.mit.edu 37 17 78171904 78171904 + Missense_Mutation SNP C C T TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr17:78171904C>T ENST00000573882.1 + 14 2137 c.1601C>T c.(1600-1602)cCg>cTg p.P534L CARD14_ENST00000570421.1_Missense_Mutation_p.P534L|CARD14_ENST00000392434.2_Missense_Mutation_p.P297L|CARD14_ENST00000344227.2_Missense_Mutation_p.P534L|CARD14_ENST00000573754.1_3'UTR Q9BXL6 CAR14_HUMAN caspase recruitment domain family, member 14 534 activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis aggresome|cytoplasm|plasma membrane CARD domain binding NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1) 23 all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908) CCAGACCTTCCGCAGCTGGAA 0.592000 27 104 0 0 0.717897 0 0 SUPT16H 11198 broad.mit.edu 37 14 21821703 21821703 + Missense_Mutation SNP C C T TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr14:21821703C>T ENST00000216297.2 - 25 3280 c.2942G>A c.(2941-2943)gGt>gAt p.G981D NM_007192.3 NP_009123.1 Q9Y5B9 SP16H_HUMAN suppressor of Ty 16 homolog (S. cerevisiae) 981 Glu-rich (acidic). DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) TTCTTCACTACCCAATGACTC 0.373000 47 108 0 0 0.870114 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144879311 144879311 + Missense_Mutation SNP C C T TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr1:144879311C>T ENST00000369359.4 - 30 4585 c.4547G>A c.(4546-4548)cGg>cAg p.R1516Q PDE4DIP_ENST00000369354.3_Missense_Mutation_p.R1380Q|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.R1380Q|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.R1336Q|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R1516Q|PDE4DIP_ENST00000524974.1_5'UTR Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 1380 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TGAGAGGGACCGGACCCGGCT 0.498000 T PDGFRB MPD 4 298 0 0 0.150653 0 0 ZNF229 7772 broad.mit.edu 37 19 44933647 44933647 + Missense_Mutation SNP C C T TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr19:44933647C>T ENST00000291187.4 - 6 1613 c.1291G>A c.(1291-1293)Gag>Aag p.E431K ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000588931.1_Missense_Mutation_p.E437K NM_001278510.1 NP_001265439.1 Q9UJW7 ZN229_HUMAN zinc finger protein 229 437 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) TTGCCACACTCGCTGCAGGTG 0.537000 31 59 0 0 0.717897 0 0 CD1A 909 broad.mit.edu 37 1 158226760 158226760 + Silent SNP C C T TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr1:158226760C>T ENST00000289429.5 + 4 1322 c.789C>T c.(787-789)cgC>cgT p.R263R NM_001763.2 NP_001754.2 P06126 CD1A_HUMAN CD1a molecule 263 Ig-like. antigen processing and presentation|immune response endosome membrane|integral to plasma membrane|MHC class I protein complex p.R263R(1) NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 32 all_hematologic(112;0.0378) Antithymocyte globulin(DB00098) GGTATCTCCGCGCAACCCTGG 0.632000 66 95 0 0 0.870114 0 0 USP24 23358 broad.mit.edu 37 1 55638164 55638164 + Nonsense_Mutation SNP C C T TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr1:55638164C>T ENST00000294383.6 - 4 587 c.588G>A c.(586-588)tgG>tgA p.W196* USP24_ENST00000407756.1_Nonsense_Mutation_p.W84* NM_015306.2 NP_056121.2 Q9UPU5 UBP24_HUMAN ubiquitin specific peptidase 24 196 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 60 TTTCAGTACCCCACTTGTGAA 0.368000 18 70 0 0 0.624587 0 0 HIF3A 64344 broad.mit.edu 37 19 46800337 46800337 + Missense_Mutation SNP G G A TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr19:46800337G>A ENST00000377670.4 + 1 35 c.4G>A c.(4-6)Gcg>Acg p.A2T NM_152795.3 NP_690008.2 Q9Y2N7 HIF3A_HUMAN hypoxia inducible factor 3, alpha subunit 2 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 33 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) GCGAGCCATGGCGCTGGGGCT 0.716000 12 19 0 0 0.457914 0 0 ADAM28 10863 broad.mit.edu 37 8 24200636 24200636 + Missense_Mutation SNP T T C TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr8:24200636T>C ENST00000265769.4 + 17 1963 c.1853T>C c.(1852-1854)gTg>gCg p.V618A RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.V365A|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA NM_014265.4 NP_055080.2 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 618 Cys-rich. proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) GCAGAATGTGTGGATATTGAG 0.383000 3 90 0 0 0.150653 0 0 SEMA3F 6405 broad.mit.edu 37 3 50225347 50225347 + Silent SNP C C T TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr3:50225347C>T ENST00000002829.3 + 19 2641 c.2157C>T c.(2155-2157)ggC>ggT p.G719G SEMA3F_ENST00000434342.1_Silent_p.G688G|SEMA3F_ENST00000413852.1_Silent_p.G620G NM_004186.3 NP_004177.3 Q13275 SEM3F_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F 719 axon guidance extracellular space|membrane chemorepellent activity|receptor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2) 17 BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688) CACCCCCAGGCGCAGGCCCCC 0.667000 10 10 0 0 0.361761 0 0 C14orf182 283551 broad.mit.edu 37 14 50472373 50472373 + Nonsense_Mutation SNP G G A TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr14:50472373G>A ENST00000399206.1 - 1 1865 c.145C>T c.(145-147)Cga>Tga p.R49* C14orf182_ENST00000529902.1_5'UTR NM_001012706.1 NP_001012724.1 A1A4T8 CN182_HUMAN chromosome 14 open reading frame 182 49 p.R49*(1) large_intestine(2)|urinary_tract(1) 3 TGTCTGTGTCGTAGAACTGTG 0.527000 6 288 0 0 0.217242 0 0 CALN1 83698 broad.mit.edu 37 7 71252834 71252834 + Missense_Mutation SNP C C T TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr7:71252834C>T ENST00000395275.2 - 7 1100 c.712G>A c.(712-714)Gcc>Acc p.A238T CALN1_ENST00000329008.5_Missense_Mutation_p.A196T|CALN1_ENST00000431984.1_Missense_Mutation_p.A196T|CALN1_ENST00000395276.2_Missense_Mutation_p.A196T|CALN1_ENST00000412588.1_Missense_Mutation_p.A238T|CALN1_ENST00000405452.2_Missense_Mutation_p.A196T NM_031468.3 NP_113656.2 Q9BXU9 CABP8_HUMAN calneuron 1 196 Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane calcium ion binding biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2) 32 all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161) ATAGCAAAGGCGCATATGAGG 0.567000 27 80 0 0 0.681144 0 0 CDH12 1010 broad.mit.edu 37 5 21817101 21817101 + Missense_Mutation SNP T T G TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr5:21817101T>G ENST00000382254.1 - 9 2041 c.955A>C c.(955-957)Atc>Ctc p.I319L CDH12_ENST00000504376.2_Missense_Mutation_p.I319L|CDH12_ENST00000522262.1_Missense_Mutation_p.I279L|CDH12_ENST00000521384.1_5'UTR NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 319 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 TCTGTGACGATGTCAAACAAA 0.348000 HNSCC(59;0.17) 7 295 0 0 0.278610 0 0 AC010336.1 0 broad.mit.edu 37 19 7964897 7964897 + Missense_Mutation SNP G G A TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr19:7964897G>A ENST00000539278.1 - 1 3530 c.370C>T c.(370-372)Cgg>Tgg p.R124W LRRC8E_ENST00000306708.6_Missense_Mutation_p.R497H GAGGAGCTCCGCGAGGTGCCG 0.657000 10 20 0 0 0.387290 0 0 PKHD1 5314 broad.mit.edu 37 6 51613287 51613287 + Missense_Mutation SNP C C A TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr6:51613287C>A ENST00000371117.3 - 58 9402 c.9127G>T c.(9127-9129)Gtg>Ttg p.V3043L PKHD1_ENST00000340994.4_Missense_Mutation_p.V3043L NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 3043 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) GTGCCAAACACAATATTGTCA 0.493000 46 45 1.76056e-25 2.00339e-25 0.859065 1 0 PCSK4 54760 broad.mit.edu 37 19 1488063 1488063 + Missense_Mutation SNP A A G TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr19:1488063A>G ENST00000300954.5 - 4 477 c.416T>C c.(415-417)aTc>aCc p.I139T PCSK4_ENST00000587784.1_5'UTR NM_017573.3 NP_060043.2 Q6UW60 PCSK4_HUMAN proprotein convertase subtilisin/kexin type 4 139 Catalytic (By similarity). proteolysis integral to membrane serine-type endopeptidase activity cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 15 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGCCTGCAGGATGCTCAGGTC 0.672000 4 253 0 0 0.150653 0 0 ANKEF1 63926 broad.mit.edu 37 20 10030224 10030224 + Missense_Mutation SNP G G A TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr20:10030224G>A ENST00000378380.3 + 6 1336 c.1007G>A c.(1006-1008)cGt>cAt p.R336H ANKEF1_ENST00000488991.1_3'UTR|ANKEF1_ENST00000378392.1_Missense_Mutation_p.R336H|SNAP25-AS1_ENST00000603542.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA NM_198798.1 NP_942093.1 ankyrin repeat and EF-hand domain containing 1 TCCGTAGAACGTGAGGCTTTC 0.512000 44 99 0 0 0.859065 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661478 22661478 + RNA SNP T T G TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr22:22661478T>G ENST00000426066.1 + 0 368 NR_027293.1 CAGATGCGTCTGAAGAAACAT 0.488000 4 101 0 0 0.278610 0 0 ADAM7 8756 broad.mit.edu 37 8 24346749 24346749 + Missense_Mutation SNP T T G TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr8:24346749T>G ENST00000175238.6 + 12 1252 c.1169T>G c.(1168-1170)aTg>aGg p.M390R ADAM7_ENST00000380789.1_Missense_Mutation_p.M390R|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000520720.1_Missense_Mutation_p.M162R NM_003817.3 NP_003808.2 Q9H2U9 ADAM7_HUMAN ADAM metallopeptidase domain 7 390 Peptidase M12B. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) CCAACATGCATGCTCAACATT 0.398000 44 72 0 0 0.870114 0 0 NPAP1 23742 broad.mit.edu 37 15 24921561 24921561 + Missense_Mutation SNP G G A rs151186438 byFrequency TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr15:24921561G>A ENST00000329468.2 + 1 1021 c.547G>A c.(547-549)Gga>Aga p.G183R NM_018958.2 NP_061831.2 nuclear pore associated protein 1 CCTTAGCAGCGGAGAAGCATC 0.597000 20 27 0 0 0.575678 0 0 RGN 9104 broad.mit.edu 37 X 46943843 46943843 + Missense_Mutation SNP C C T TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chrX:46943843C>T ENST00000397180.1 + 4 1159 c.190C>T c.(190-192)Cgc>Tgc p.R64C RGN_ENST00000457380.1_Missense_Mutation_p.R64C|RGN_ENST00000469346.1_3'UTR|RGN_ENST00000352078.4_Missense_Mutation_p.R64C|RGN_ENST00000336169.3_Missense_Mutation_p.R64C NM_152869.2 NP_690608.1 Q15493 RGN_HUMAN regucalcin 64 cellular calcium ion homeostasis|positive regulation of ATPase activity|regulation of calcium-mediated signaling cytoplasm|nucleus calcium ion binding|enzyme regulator activity|gluconolactonase activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1) 9 CGTGGCTCTTCGCCAGTCGGG 0.493000 16 4 0 0 0.539581 0 0 TSSC2 0 broad.mit.edu 37 11 3427830 3427830 + RNA SNP G G A TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr11:3427830G>A ENST00000529482.1 + 0 947 TGTGTGTGCCGTGAACTTCAA 0.582000 4 78 0 0 0.150653 0 0 COL19A1 1310 broad.mit.edu 37 6 70866054 70866054 + Silent SNP G G A TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr6:70866054G>A ENST00000322773.4 + 32 2217 c.2115G>A c.(2113-2115)ggG>ggA p.G705G COL19A1_ENST00000393344.1_Silent_p.G327G NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 705 Triple-helical region 4 (COL4). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 GTGTCCCAGGGCTGAAAAGCA 0.473000 39 48 0 0 0.847076 0 0 PRSS3P2 0 broad.mit.edu 37 7 142481789 142481789 + RNA SNP T T C rs140267598 by1000genomes TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr7:142481789T>C ENST00000603901.1 + 0 468 NR_001296.3 ACTACCCAGATGAGCTGCAGT 0.488000 7 254 0 0 0.361761 0 0 FER1L6 654463 broad.mit.edu 37 8 125094698 125094698 + Splice_Site SNP A A T TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr8:125094698A>T ENST00000522917.1 + 33 4596 c.4391_splice c.e33+1 p.I1464_splice FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Splice_Site_p.I1464_splice NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 1464 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) CCAGTATGAGATGTAAGTTCT 0.512000 62 103 0 0 0.870114 0 0 PTPN11 5781 broad.mit.edu 37 12 112888199 112888199 + Missense_Mutation SNP C C A rs121918454 TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr12:112888199C>A ENST00000351677.2 + 3 413 c.215C>A c.(214-216)gCc>gAc p.A72D PTPN11_ENST00000392597.1_Missense_Mutation_p.A72D NM_002834.3 NP_002825.3 Q06124 PTN11_HUMAN protein tyrosine phosphatase, non-receptor type 11 72 SH2 1. A -> G (in NS1).|A -> S (in NS1).|A -> T (in JMML).|A -> V (in JMML). axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway cytosol non-membrane spanning protein tyrosine phosphatase activity|protein binding p.A72V(35)|p.A72D(3) NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3) 451 GAGAAATTTGCCACTTTGGCT 0.418000 Mis """JMML, AML, MDS""" Noonan Syndrome Noonan syndrome 74 120 5.32961e-40 6.20743e-40 0.870114 1 0 TRIP13 9319 broad.mit.edu 37 5 908507 908507 + Missense_Mutation SNP C C T TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr5:908507C>T ENST00000166345.3 + 9 1153 c.797C>T c.(796-798)gCg>gTg p.A266V NM_004237.3 NP_004228.1 Q15645 PCH2_HUMAN thyroid hormone receptor interactor 13 266 double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 18 Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165) GCCTGCAGGGCGGGCACCGAG 0.562000 46 69 0 0 0.870114 0 0 VWF 7450 broad.mit.edu 37 12 6219737 6219737 + Missense_Mutation SNP G G A TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr12:6219737G>A ENST00000261405.5 - 5 589 c.335C>T c.(334-336)cCc>cTc p.P112L VWF_ENST00000572068.1_Missense_Mutation_p.P149L NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 112 VWFD 1. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) GGAGGCATAGGGCATGGAGAC 0.537000 4 136 0 0 0.150653 0 0 SLC6A2 6530 broad.mit.edu 37 16 55705795 55705795 + Missense_Mutation SNP G G A TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr16:55705795G>A ENST00000567238.1 + 1 213 c.37G>A c.(37-39)Gtg>Atg p.V13M SLC6A2_ENST00000568943.1_Intron|SLC6A2_ENST00000379906.2_Intron|SLC6A2_ENST00000219833.8_Intron|SLC6A2_ENST00000566163.1_Intron|SLC6A2_ENST00000561820.1_Intron|SLC6A2_ENST00000414754.3_Intron NM_001172502.1 NP_001165973.1 P23975 SC6A2_HUMAN solute carrier family 6 (neurotransmitter transporter), member 2 0 synaptic transmission integral to plasma membrane|membrane fraction norepinephrine:sodium symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267) Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285) CCAAGGAGAGGTGGCTGTGGG 0.602000 14 30 0 0 0.500413 0 0 ZNF91 7644 broad.mit.edu 37 19 23544867 23544867 + Missense_Mutation SNP T T C TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr19:23544867T>C ENST00000300619.7 - 4 1119 c.914A>G c.(913-915)cAt>cGt p.H305R ZNF91_ENST00000397082.2_Missense_Mutation_p.H273R|ZNF91_ENST00000599743.1_Intron NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 305 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) GGTTGAAGAATGGCTAAAAGC 0.413000 4 282 0 0 0.150653 0 0 ATP8B4 79895 broad.mit.edu 37 15 50288937 50288937 + Missense_Mutation SNP G G A rs116334504 by1000genomes TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr15:50288937G>A ENST00000284509.6 - 9 667 c.526C>T c.(526-528)Cgc>Tgc p.R176C ATP8B4_ENST00000559829.1_Missense_Mutation_p.R176C|ATP8B4_ENST00000558959.1_5'UTR NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 176 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) AGTGCATGGCGGACTTTTAGG 0.398000 22 44 0 0 0.639603 0 0 CSPG4 1464 broad.mit.edu 37 15 75981730 75981730 + Missense_Mutation SNP T T C TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr15:75981730T>C ENST00000308508.5 - 3 1768 c.1676A>G c.(1675-1677)cAt>cGt p.H559R NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 559 Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 GAGGCTGCCATGTGGGAAGAT 0.612000 3 56 0 0 0.150653 0 0 CACUL1 143384 broad.mit.edu 37 10 120489879 120489879 + Nonsense_Mutation SNP C C T TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr10:120489879C>T ENST00000369151.3 - 2 894 c.411G>A c.(409-411)tgG>tgA p.W137* CACUL1_ENST00000340214.4_Nonsense_Mutation_p.W137* NM_153810.4 NP_722517.3 CDK2-associated, cullin domain 1 CCAATTTTGGCCAGTATGTGC 0.323000 3 63 0 0 0.115264 0 0 EDNRA 1909 broad.mit.edu 37 4 148407184 148407184 + Silent SNP G G T TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr4:148407184G>T ENST00000324300.5 + 2 866 c.351G>T c.(349-351)gcG>gcT p.A117A EDNRA_ENST00000506066.1_Silent_p.A117A|EDNRA_ENST00000358556.4_Silent_p.A117A|EDNRA_ENST00000339690.5_Silent_p.A117A|EDNRA_ENST00000511804.1_Intron NM_001957.3 NP_001948.1 P25101 EDNRA_HUMAN endothelin receptor type A 117 activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange integral to plasma membrane endothelin-A receptor activity|phosphatidylinositol phospholipase C activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1) 17 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.154) Bosentan(DB00559) GCCCCAACGCGCTGATAGCCA 0.423000 70 91 2.08929e-35 2.40511e-35 0.870114 1 0 SVEP1 79987 broad.mit.edu 37 9 113217968 113217968 + Missense_Mutation SNP G G C TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr9:113217968G>C ENST00000401783.2 - 22 4025 c.3689C>G c.(3688-3690)aCa>aGa p.T1230R SVEP1_ENST00000302728.8_Missense_Mutation_p.T1230R|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.T1207R NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 1230 cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 ATCGATGTCTGTTTCACACTT 0.418000 20 33 0 0 0.608945 0 0 TRPC7 57113 broad.mit.edu 37 5 135610458 135610458 + Missense_Mutation SNP C C T TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr5:135610458C>T ENST00000513104.1 - 4 1313 c.1031G>A c.(1030-1032)cGt>cAt p.R344H TRPC7_ENST00000426057.2_Intron|TRPC7_ENST00000355180.3_Missense_Mutation_p.R283H NM_020389.2 NP_065122.1 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, subfamily C, member 7 344 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding p.R344H(2) NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) AGACTGTTGACGTAAGCCTGA 0.438000 9 20 0 0 0.307466 0 0 LY9 4063 broad.mit.edu 37 1 160783596 160783596 + Missense_Mutation SNP G G A TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr1:160783596G>A ENST00000263285.5 + 3 655 c.625G>A c.(625-627)Gtc>Atc p.V209I LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000368041.2_Missense_Mutation_p.V169I|LY9_ENST00000341032.4_Missense_Mutation_p.V209I NM_001261456.1|NM_002348.3 NP_001248385.1|NP_002339.2 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 209 Ig-like C2-type 1. cell adhesion|immunoglobulin mediated immune response integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) CATTCTTACCGTCTCCCGAAC 0.562000 8 273 0 0 0.278610 0 0 TENM1 10178 broad.mit.edu 37 X 123654451 123654451 + Missense_Mutation SNP C C T TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chrX:123654451C>T ENST00000422452.2 - 18 3280 c.3217G>A c.(3217-3219)Gcc>Acc p.A1073T TENM1_ENST00000371130.3_Missense_Mutation_p.A1073T NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 p.A1075S(1) TTAATTGCGGCGGGAAACCAC 0.473000 111 24 0 0 0.870114 0 0 LRRC8E 80131 broad.mit.edu 37 19 7965572 7965572 + Missense_Mutation SNP G G A TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr19:7965572G>A ENST00000306708.6 + 3 2266 c.2165G>A c.(2164-2166)cGc>cAc p.R722H AC010336.1_ENST00000539278.1_5'UTR NM_001268284.1|NM_001268285.1|NM_025061.4 NP_001255213.1|NP_001255214.1|NP_079337.2 Q6NSJ5 LRC8E_HUMAN leucine rich repeat containing 8 family, member E 722 integral to membrane breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10) 35 TTCTTCTGCCGCAAGCTGCGG 0.657000 4 181 0 0 0.150653 0 0 LAMA1 284217 broad.mit.edu 37 18 6961754 6961754 + Missense_Mutation SNP A A G TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr18:6961754A>G ENST00000389658.3 - 53 7550 c.7457T>C c.(7456-7458)aTc>aCc p.I2486T NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 2486 Laminin G-like 3. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AACACTCCGGATGGGCTGGAC 0.517000 14 27 0 0 0.457914 0 0 PCSK2 5126 broad.mit.edu 37 20 17410117 17410117 + Missense_Mutation SNP G G A TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr20:17410117G>A ENST00000262545.2 + 7 973 c.658G>A c.(658-660)Gcc>Acc p.A220T PCSK2_ENST00000536609.1_Missense_Mutation_p.A185T|PCSK2_ENST00000377899.1_Missense_Mutation_p.A201T NM_002594.3 NP_002585.2 P16519 NEC2_HUMAN proprotein convertase subtilisin/kexin type 2 220 Catalytic. 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) TTCTGCTGCCGCCAACAACAA 0.473000 105 267 0 0 0.870114 0 0 PKHD1 5314 broad.mit.edu 37 6 51892973 51892973 + Missense_Mutation SNP C C A TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr6:51892973C>A ENST00000371117.3 - 30 3816 c.3541G>T c.(3541-3543)Gtc>Ttc p.V1181F PKHD1_ENST00000340994.4_Missense_Mutation_p.V1181F NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 1181 IPT/TIG 6; atypical. 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) TGAATGCTGACCCCATTGATA 0.498000 124 212 8.80896e-55 1.0382e-54 0.870114 1 0 OR13C5 138799 broad.mit.edu 37 9 107361264 107361264 + Missense_Mutation SNP A A C TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr9:107361264A>C ENST00000374779.2 - 1 524 c.431T>G c.(430-432)aTg>aGg p.M144R NM_001004482.1 NP_001004482.1 Q8NGS8 O13C5_HUMAN olfactory receptor, family 13, subfamily C, member 5 144 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4) 28 CCCAGCTGCCATGGGTACATA 0.473000 21 291 0 0 0.681144 0 0 CLEC14A 161198 broad.mit.edu 37 14 38723809 38723809 + Missense_Mutation SNP G G T rs146958080 byFrequency TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr14:38723809G>T ENST00000342213.2 - 1 1765 c.1419C>A c.(1417-1419)gaC>gaA p.D473E NM_175060.2 NP_778230.1 Q86T13 CLC14_HUMAN C-type lectin domain family 14, member A 473 integral to membrane sugar binding breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00439) CCTCTGCTCTGTCCCGCAGAT 0.572000 5 240 0.217242 0.228798 0.217242 1 0 NUP160 23279 broad.mit.edu 37 11 47809761 47809761 + Missense_Mutation SNP G G A TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr11:47809761G>A ENST00000378460.2 - 31 3765 c.3719C>T c.(3718-3720)aCg>aTg p.T1240M NUP160_ENST00000530326.1_Missense_Mutation_p.T1126M NM_015231.1 NP_056046.1 Q12769 NU160_HUMAN nucleoporin 160kDa 1240 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding p.T1240M(1) NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2) 53 AAAGACTGGCGTTAAGGGAAG 0.398000 28 45 0 0 0.729181 0 0 KPNA4 3840 broad.mit.edu 37 3 160239655 160239655 + Missense_Mutation SNP G G A TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr3:160239655G>A ENST00000334256.4 - 11 1120 c.815C>T c.(814-816)gCt>gTt p.A272V NM_002268.4 NP_002259.1 O00629 IMA4_HUMAN karyopherin alpha 4 (importin alpha 3) 272 NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2) 22 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) TTCATTGCCAGCATCAGTAAG 0.353000 4 243 0 0 0.150653 0 0 SRRM2 23524 broad.mit.edu 37 16 2817587 2817587 + Missense_Mutation SNP C C T TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr16:2817587C>T ENST00000301740.8 + 11 7607 c.7058C>T c.(7057-7059)gCc>gTc p.A2353V SRRM2_ENST00000574593.1_3'UTR NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 2353 Ala-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 GTGAATATTGCCGGCTCCAGA 0.627000 4 185 0 0 0.150653 0 0 IGHA1 0 broad.mit.edu 37 14 106173520 106173520 + RNA SNP G G A rs1130897 by1000genomes TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr14:106173520G>A ENST00000390547.2 - 0 1046 AGCAGGTGCCGTCCACCTCCG 0.637000 6 15 0 0 0.248553 0 0 KRT28 162605 broad.mit.edu 37 17 38955859 38955859 + Missense_Mutation SNP C C T TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr17:38955859C>T ENST00000306658.7 - 1 352 c.287G>A c.(286-288)cGc>cAc p.R96H NM_181535.3 NP_853513.2 Q7Z3Y7 K1C28_HUMAN keratin 28 96 Coil 1A.|Rod. cytoplasm|intermediate filament structural molecule activity NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 Breast(137;0.000301) GGATGCCAAGCGGTCATTAAG 0.478000 6 175 0 0 0.217242 0 0 PITX2 5308 broad.mit.edu 37 4 111539762 111539762 + Missense_Mutation SNP G G A TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr4:111539762G>A ENST00000354925.2 - 7 2178 c.473C>T c.(472-474)cCg>cTg p.P158L PITX2_ENST00000394598.2_Missense_Mutation_p.P158L|PITX2_ENST00000394595.3_Silent_p.A89A|PITX2_ENST00000355080.5_Missense_Mutation_p.P112L|PITX2_ENST00000306732.3_Missense_Mutation_p.P165L|PITX2_ENST00000556049.1_5'UTR NM_001204397.1 NP_001191326.1 Q99697 PITX2_HUMAN paired-like homeodomain 2 158 determination of left/right symmetry|organ morphogenesis transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding breast(1)|endometrium(3)|large_intestine(1)|lung(5) 10 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00222) ATTGAACTGCGGCCCGAAGCC 0.592000 4 102 0 0 0.150653 0 0 OR13C2 392376 broad.mit.edu 37 9 107367478 107367478 + Missense_Mutation SNP A A C TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr9:107367478A>C ENST00000542196.1 - 1 473 c.431T>G c.(430-432)aTg>aGg p.M144R NM_001004481.1 NP_001004481.1 Q8NGS9 O13C2_HUMAN olfactory receptor, family 13, subfamily C, member 2 144 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 CCCAGCTGCCATGGGTACATA 0.468000 32 99 0 0 0.847076 0 0 ATP2B2 491 broad.mit.edu 37 3 10452378 10452378 + Silent SNP C C T TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr3:10452378C>T ENST00000397077.1 - 5 896 c.321G>A c.(319-321)acG>acA p.T107T ATP2B2_ENST00000343816.4_Silent_p.T107T|ATP2B2_ENST00000383800.4_Silent_p.T107T|ATP2B2_ENST00000360273.2_Silent_p.T107T|ATP2B2_ENST00000352432.4_Silent_p.T107T Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 107 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 GGATGATGAGCGTCACGTCCT 0.552000 8 355 0 0 0.278610 0 0 RP1-37N7.4 0 broad.mit.edu 37 17 18333005 18333005 + RNA SNP C C T TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr17:18333005C>T ENST00000580052.1 + 0 43 KRT17P2_ENST00000326333.8_RNA AGGAGATGAACGCCCCGCGAG 0.607000 8 3 0 0 0.387290 0 0 ATP10B 23120 broad.mit.edu 37 5 160025790 160025790 + Missense_Mutation SNP C C A TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr5:160025790C>A ENST00000327245.5 - 22 4397 c.3551G>T c.(3550-3552)gGc>gTc p.G1184V NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 1184 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGAGTTCTGGCCACTCTTGTA 0.502000 193 275 8.57144e-96 1.03484e-95 0.870114 1 0 SIPA1L1 26037 broad.mit.edu 37 14 72138006 72138006 + Missense_Mutation SNP G G A TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr14:72138006G>A ENST00000555818.1 + 8 2774 c.2426G>A c.(2425-2427)cGc>cAc p.R809H SIPA1L1_ENST00000537413.1_Missense_Mutation_p.R284H|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R809H|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R809H NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 809 Rap-GAP. actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) ACTCGGACCCGCCAGGAATAC 0.473000 29 49 0 0 0.750413 0 0 COL6A3 1293 broad.mit.edu 37 2 238249727 238249727 + Missense_Mutation SNP G G A rs114806654 by1000genomes TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr2:238249727G>A ENST00000295550.4 - 38 8284 c.7832C>T c.(7831-7833)gCg>gTg p.A2611V COL6A3_ENST00000347401.3_Missense_Mutation_p.A2410V|COL6A3_ENST00000409809.1_Missense_Mutation_p.A2405V|COL6A3_ENST00000346358.4_Missense_Mutation_p.A2411V|COL6A3_ENST00000353578.4_Missense_Mutation_p.A2405V|COL6A3_ENST00000472056.1_Missense_Mutation_p.A2004V NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 2611 Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity p.A2611E(1) breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GCTCCCTGCCGCTCTCCTGTC 0.512000 76 118 0 0 0.870114 0 0 CCM2L 140706 broad.mit.edu 37 20 30617623 30617623 + Missense_Mutation SNP C C A TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr20:30617623C>A ENST00000300415.8 + 9 1397 c.1384C>A c.(1384-1386)Cgc>Agc p.R462S RP1-310O13.7_ENST00000449519.1_RNA|CCM2L_ENST00000262659.8_3'UTR cerebral cavernous malformation 2-like CGGAGACCGGCGCAAGTTCCT 0.632000 3 109 0.115264 0.1227 0.115264 1 0 PTEN 5728 broad.mit.edu 37 10 89711899 89711899 + Missense_Mutation SNP C C T rs121913293 TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr10:89711899C>T ENST00000371953.3 + 6 1874 c.517C>T c.(517-519)Cgc>Tgc p.R173C NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 173 Phosphatase tensin-type. R -> C (in endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3; retains ability to bind phospholipid membranes).|R -> H (loss of phosphatase activity towards Ins(1,3,4,5)P4).|R -> P (loss of phosphatase activity towards Ins(1,3,4,5)P4). activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.R173C(32)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.R173fs*10(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.R172fs*5(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) CAGTCAGAGGCGCTATGTGTA 0.348000 R173C(REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 73 51 0 0 0.870114 0 0 RFX3 5991 broad.mit.edu 37 9 3270522 3270522 + Missense_Mutation SNP A A T TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr9:3270522A>T ENST00000382004.3 - 12 1517 c.1206T>A c.(1204-1206)aaT>aaA p.N402K RFX3_ENST00000302303.1_Missense_Mutation_p.N402K|RFX3_ENST00000358730.2_Missense_Mutation_p.N402K NM_134428.1 NP_602304.1 P48380 RFX3_HUMAN regulatory factor X, 3 (influences HLA class II expression) 402 cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion nuclear chromatin protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337) TTTCACTCAGATTGCTGGTGT 0.348000 3 73 0 0 0.150653 0 0 RP11-739N20.2 0 broad.mit.edu 37 1 204363980 204363980 + RNA DEL A A - TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr1:204363980delA ENST00000443515.1 + 0 146 tttgtttttcaaaaaaaaaaa 0.308 12 138 --- --- --- --- SLC30A6 55676 broad.mit.edu 37 2 32422896 32422896 + Splice_Site DEL G G - TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr2:32422896delG ENST00000282587.5 + 10 702 c.e10+1 SLC30A6_ENST00000357055.3_Splice_Site|SLC30A6_ENST00000406369.1_Splice_Site|SLC30A6_ENST00000538303.1_Splice_Site|SLC30A6_ENST00000435660.1_Splice_Site|SLC30A6_ENST00000379343.2_Splice_Site NM_017964.3 NP_060434.2 Q6NXT4 ZNT6_HUMAN solute carrier family 30 (zinc transporter), member 6 Golgi membrane|integral to membrane zinc ion transmembrane transporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) TTGAAATTAAGTGAGTATTTT 0.373 47 92 --- --- --- --- CLOCK 9575 broad.mit.edu 37 4 56336954 56336954 + Frame_Shift_Del DEL A A - TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr4:56336954delA ENST00000309964.4 - 7 618 c.368delT c.(367-369)tafs p.L123fs CLOCK_ENST00000381322.1_Frame_Shift_Del_p.L123fs|CLOCK_ENST00000513440.1_Frame_Shift_Del_p.L123fs NM_004898.3 NP_004889.1 O15516 CLOCK_HUMAN clock circadian regulator 123 PAS 1. circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter cytoplasm|transcription factor complex DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity p.L123fs*1(2) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107) CATGATTGCTAAAAAAAAACC 0.289 7 254 --- --- --- --- RP11-686D16.1 0 broad.mit.edu 37 6 19319481 19319482 + RNA DEL TT TT - TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr6:19319481_19319482delTT ENST00000443504.1 - 0 104 ttctcttccctttctctttctt 0.475 6 8 --- --- --- --- ZAN 7455 broad.mit.edu 37 7 100345611 100345611 + RNA DEL A A - TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr7:100345611delA ENST00000542585.1 + 0 1171 ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_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) caagactctgaaaaaaaaaaa 0.502 2 4 --- --- --- --- PRKDC 5591 broad.mit.edu 37 8 48866909 48866910 + Frame_Shift_Ins INS - - T TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr8:48866909_48866910insT ENST00000314191.2 - 5 552_553 c.496_497insA c.(496-498)accfs p.T166fs PRKDC_ENST00000338368.3_Frame_Shift_Ins_p.T166fs|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 166 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) TGTATCTGGTATTTTTTTTTTC 0.267 Non-homologous end-joining 2 4 --- --- --- --- FRMD4A 55691 broad.mit.edu 37 10 13699134 13699142 + In_Frame_Del DEL CGCCCCCCG CGCCCCCCG - TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr10:13699134_13699142delCGCCCCCCG ENST00000357447.2 - 22 2815_2823 c.2447_2455delCGGGGGGCG c.(2446-2457)ggt>g p.AGGG816del FRMD4A_ENST00000378503.1_In_Frame_Del_p.AGGG816del|FRMD4A_ENST00000358621.4_In_Frame_Del_p.AGGG801del NM_018027.3 NP_060497.3 Q9P2Q2 FRM4A_HUMAN FERM domain containing 4A 816 cytoplasm|cytoskeleton binding breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 41 AGGTACACAccgccccccgcgccccccgc 0.761 5 4 --- --- --- --- TSKU 25987 broad.mit.edu 37 11 76506673 76506675 + In_Frame_Del DEL CTG CTG - TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr11:76506673_76506675delCTG ENST00000527881.1 + 2 1039_1041 c.13_15delCTG c.(13-15)del p.L9del TSKU_ENST00000333090.4_In_Frame_Del_p.L9del Q8WUA8 TSK_HUMAN tsukushi, small leucine rich proteoglycan 9 extracellular region NS(1)|large_intestine(4)|lung(6)|urinary_tract(1) 12 Ovarian(111;0.112) GCCGTGGCCCCTGCTGCTGCTGC 0.616 7 98 --- --- --- --- RP11-551L14.1 0 broad.mit.edu 37 12 31269189 31269190 + RNA INS - - ATCAT rs35880498 TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr12:31269189_31269190insATCAT ENST00000542490.1 - 0 165 central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1) 41 CATGAGAACTCATTACCATGAT 0.351 6 1 --- --- --- --- RP11-847H18.2 0 broad.mit.edu 37 12 34190730 34190731 + RNA INS - - TT rs10844783 TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr12:34190730_34190731insTT ENST00000501954.2 - 0 325 RP11-847H18.3_ENST00000537655.1_lincRNA gtgtgtgtgtgtccgtgtgtgt 0.446 3 3 --- --- --- --- CDC27 996 broad.mit.edu 37 17 45219612 45219612 + Frame_Shift_Del DEL A A - TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr17:45219612delA ENST00000066544.3 - 11 1454 c.1361delT c.(1360-1362)cafs p.L454fs CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 454 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|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|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 TGCTTTTTGTAGATTAAAGGC 0.308 7 89 --- --- --- --- PLCG1 5335 broad.mit.edu 37 20 39802386 39802387 + In_Frame_Ins INS - - GAAGAA TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr20:39802386_39802387insGAAGAA ENST00000373272.2 + 29 3894_3895 c.3489_3490insGAAGAA c.(3487-3492)gaaaga>gaGAAGAAaaga p.1163_1164ER>EKKR PLCG1_ENST00000461641.1_3'UTR|PLCG1_ENST00000244007.3_In_Frame_Ins_p.1163_1164ER>EKKR|PLCG1_ENST00000373271.1_In_Frame_Ins_p.1163_1164ER>EKKR NM_002660.2 NP_002651.2 P19174 PLCG1_HUMAN phospholipase C, gamma 1 1163 C2. activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway cytosol|lamellipodium|plasma membrane|ruffle calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2) 46 Myeloproliferative disorder(115;0.00878) TGGTGTATGAGGAAGACATGTT 0.515 OREG0025953 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 47 231 --- --- --- --- AC008103.5 0 broad.mit.edu 37 22 18842473 18842473 + RNA DEL G G - rs66618606 TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chr22:18842473delG ENST00000412938.1 + 0 2208 AGCTGCTGGTGGGGAGGTCTT 0.647 4 6 --- --- --- --- SLC25A5 292 broad.mit.edu 37 X 118603962 118603962 + Frame_Shift_Del DEL T T - TCGA-CS-5395-01A-01D-1468-08 TCGA-CS-5395-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3d477ac1-3bdf-4410-9594-1a3a1412c6ae baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db g.chrX:118603962delT ENST00000317881.8 + 2 566 c.450delT c.(448-450)gcfs p.A150fs SLC25A5_ENST00000460013.1_3'UTR NM_001152.4 NP_001143.2 P05141 ADT2_HUMAN solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 150 chromosome segregation|energy reserve metabolic process|interspecies interaction between organisms|regulation of insulin secretion|viral reproduction integral to plasma membrane|mitochondrial inner membrane|mitochondrial nucleoid|MMXD complex adenine transmembrane transporter activity|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2) 12 Clodronate(DB00720) AAGCTGGAGCTGAAAGGGAAT 0.537 9 124 --- --- --- ---