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 SEMA4A 64218 broad.mit.edu 37 1 156144918 156144918 + Silent SNP G G T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr1:156144918G>T ENST00000368285.3 + 13 1743 c.1476G>T c.(1474-1476)gtG>gtT p.V492V SEMA4A_ENST00000368284.1_Silent_p.V360V|SEMA4A_ENST00000368282.1_Silent_p.V492V|SEMA4A_ENST00000368286.2_Silent_p.V360V|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000355014.2_Silent_p.V492V NM_001193300.1|NM_022367.3 NP_001180229.1|NP_071762.2 Q9H3S1 SEM4A_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A 492 Sema. axon guidance integral to membrane|plasma membrane receptor activity breast(1)|ovary(2)|skin(2) 5 Hepatocellular(266;0.158) TCTGGAGGGTGCCCCGAGCCA 0.592000 93 452 1.10825e-40 2.06834e-40 0.014410 1 0 WEE2 494551 broad.mit.edu 37 7 141424003 141424003 + Missense_Mutation SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr7:141424003C>A ENST00000397541.2 + 8 1555 c.1149C>A c.(1147-1149)caC>caA p.H383Q WEE2-AS1_ENST00000488785.1_RNA NM_001105558.1 NP_001099028.1 P0C1S8 WEE2_HUMAN WEE1 homolog 2 (S. pombe) 383 Protein kinase. egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I centrosome|nucleus ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity p.H383H(1) breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1) 31 Melanoma(164;0.0171) ACCTGGGCCACGCAACATCAA 0.348000 29 35 2.14196e-07 2.92009e-07 0.007291 1 0 SI 6476 broad.mit.edu 37 3 164735848 164735848 + Missense_Mutation SNP G G T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr3:164735848G>T ENST00000264382.3 - 29 3492 c.3430C>A c.(3430-3432)Ctt>Att p.L1144I NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1144 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TAGGAATTAAGTTTGTACTGA 0.308000 HNSCC(35;0.089) 9 16 0.00621372 0.00671389 0.006214 1 0 SPEG 10290 broad.mit.edu 37 2 220333907 220333907 + Missense_Mutation SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr2:220333907C>A ENST00000312358.7 + 13 3653 c.3521C>A c.(3520-3522)cCc>cAc p.P1174H SPEG_ENST00000485813.1_3'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 1174 muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CCATCCATTCCCGAGGAGCCA 0.662000 3 6 3.59834e-05 4.37568e-05 0.001168 1 0 CEP350 9857 broad.mit.edu 37 1 180013210 180013210 + Silent SNP T T G TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr1:180013210T>G ENST00000367607.3 + 21 4942 c.4524T>G c.(4522-4524)tcT>tcG p.S1508S NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 1508 Ser-rich. centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 TTTCACTCTCTCAGAGTAAAG 0.318000 6 12 0 0 0.001984 0 0 WISP1 8840 broad.mit.edu 37 8 134237689 134237689 + Missense_Mutation SNP T T A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr8:134237689T>A ENST00000250160.6 + 4 773 c.667T>A c.(667-669)Tgg>Agg p.W223R WISP1_ENST00000377863.2_Missense_Mutation_p.W51R|WISP1_ENST00000517423.1_Intron|WISP1_ENST00000519433.1_Intron|WISP1_ENST00000220856.6_Missense_Mutation_p.W136R NM_003882.3 NP_003873.1 O95388 WISP1_HUMAN WNT1 inducible signaling pathway protein 1 223 TSP type-1. cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway extracellular region|soluble fraction insulin-like growth factor binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 21 all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0107) CACAAGCCCCTGGAGCCCTTG 0.592000 10 85 0 0 0.020292 0 0 C19orf45 374877 broad.mit.edu 37 19 7570505 7570505 + Missense_Mutation SNP A A G TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr19:7570505A>G ENST00000361664.2 + 6 1139 c.998A>G c.(997-999)tAc>tGc p.Y333C NM_198534.2 NP_940936.2 Q8NA69 CS045_HUMAN chromosome 19 open reading frame 45 333 endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1) 8 CAGTACTTCTACGGCCAggtg 0.557000 10 44 0 0 0.006214 0 0 NOD2 64127 broad.mit.edu 37 16 50744599 50744599 + Silent SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr16:50744599C>A ENST00000300589.2 + 4 882 c.777C>A c.(775-777)gtC>gtA p.V259V NOD2_ENST00000526417.2_3'UTR NM_022162.1 NP_071445.1 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain containing 2 259 activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3) 52 all_cancers(37;0.0156) TCCTGGAGGTCTGGGCAGATG 0.607000 5 20 3.59834e-05 4.37568e-05 0.001168 1 0 ANKRD1 27063 broad.mit.edu 37 10 92677534 92677534 + Silent SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr10:92677534C>A ENST00000371697.3 - 5 755 c.507G>T c.(505-507)gtG>gtT p.V169V NM_014391.2 NP_055206.2 Q15327 ANKR1_HUMAN ankyrin repeat domain 1 (cardiac muscle) 169 cellular lipid metabolic process|defense response|signal transduction DNA binding autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1) 27 Colorectal(252;0.0475) TTAACTTCTCCACAATTGCCA 0.363000 18 52 5.49717e-05 6.6615e-05 0.018920 1 0 ADCY3 109 broad.mit.edu 37 2 25059851 25059851 + Missense_Mutation SNP C C T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr2:25059851C>T ENST00000260600.5 - 8 2448 c.1597G>A c.(1597-1599)Gag>Aag p.E533K ADCY3_ENST00000405392.1_Missense_Mutation_p.E166K NM_004036.3 NP_004027.2 O60266 ADCY3_HUMAN adenylate cyclase 3 533 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to plasma membrane ATP binding|calmodulin binding|metal ion binding NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2) 44 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203) CCGTTGGGCTCCTTGGTCTCA 0.627000 3 10 0 0 0.009096 0 0 MUC16 94025 broad.mit.edu 37 19 9058462 9058462 + Missense_Mutation SNP T T A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr19:9058462T>A ENST00000397910.4 - 3 29187 c.28984A>T c.(28984-28986)Atc>Ttc p.I9662F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9664 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGGGTGGTGATGGTTATTTCT 0.498000 19 61 0 0 0.006122 0 0 TMEM145 284339 broad.mit.edu 37 19 42827826 42827826 + Missense_Mutation SNP G G T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr19:42827826G>T ENST00000301204.3 + 14 1327 c.1286G>T c.(1285-1287)gGg>gTg p.G429V NM_173633.2 NP_775904.2 Q8NBT3 TM145_HUMAN transmembrane protein 145 429 integral to membrane breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 27 Prostate(69;0.00682) GGACCCGGAGGGAGCCAATCC 0.617000 9 32 5.4927e-09 8.02073e-09 0.004482 1 0 UBR5 51366 broad.mit.edu 37 8 103338891 103338891 + Splice_Site SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr8:103338891C>A ENST00000520539.1 - 13 2088 c.1481_splice c.e13-1 p.W494_splice UBR5_ENST00000220959.4_Splice_Site_p.W494_splice|UBR5_ENST00000521922.1_Splice_Site_p.W488_splice NM_015902.5 NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 494 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) GAACTACACCCCTGAAAACAA 0.328000 9 57 0.000274275 0.000315914 0.004482 1 0 ULK2 9706 broad.mit.edu 37 17 19705198 19705198 + Missense_Mutation SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr17:19705198C>A ENST00000395544.4 - 16 1832 c.1333G>T c.(1333-1335)Ggc>Tgc p.G445C ULK2_ENST00000361658.2_Missense_Mutation_p.G445C|ULK2_ENST00000580130.1_5'UTR NM_014683.3 NP_055498.3 Q8IYT8 ULK2_HUMAN unc-51 like autophagy activating kinase 2 445 signal transduction ATP binding|protein binding|protein serine/threonine kinase activity large_intestine(1)|skin(4)|stomach(1) 6 all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186) CGGAGGAAGCCCATGGGGCTG 0.493000 88 95 2.78983e-34 5.179e-34 0.014410 1 0 TRGV3 6976 broad.mit.edu 37 7 38398612 38398612 + RNA SNP G G T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr7:38398612G>T ENST00000390346.2 - 0 151 GAAGGAAACGGACCAGATGAA 0.552000 16 63 3.5997e-14 6.09852e-14 0.014323 1 0 C1orf87 127795 broad.mit.edu 37 1 60520941 60520941 + Missense_Mutation SNP G G T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr1:60520941G>T ENST00000371201.3 - 3 384 c.277C>A c.(277-279)Cag>Aag p.Q93K C1orf87_ENST00000450089.2_Missense_Mutation_p.Q93K NM_152377.2 NP_689590.1 Q8N0U7 CA087_HUMAN chromosome 1 open reading frame 87 93 calcium ion binding breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 TCTGATTTCTGGTTGTTCTCT 0.423000 32 117 5.8336e-16 1.02308e-15 0.015359 1 0 CALB2 794 broad.mit.edu 37 16 71417906 71417906 + Silent SNP T T C TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr16:71417906T>C ENST00000302628.4 + 7 588 c.511T>C c.(511-513)Ttg>Ctg p.L171L CALB2_ENST00000349553.5_Silent_p.L171L NM_001740.4 NP_001731.2 P22676 CALB2_HUMAN calbindin 2 171 EF-hand 4. calcium ion binding NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 Ovarian(137;0.125) GGATGGCAAATTGGGCCTCTC 0.522000 4 300 0 0 0.009096 0 0 OR10K2 391107 broad.mit.edu 37 1 158390436 158390436 + Missense_Mutation SNP G G C TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr1:158390436G>C ENST00000314902.2 - 1 220 c.221C>G c.(220-222)aCc>aGc p.T74S NM_001004476.1 NP_001004476.1 Q6IF99 O10K2_HUMAN olfactory receptor, family 10, subfamily K, member 2 74 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_hematologic(112;0.0378) AATGATGAAGGTGTAGCAAAT 0.473000 46 221 0 0 0.014410 0 0 HCN1 348980 broad.mit.edu 37 5 45267328 45267328 + Missense_Mutation SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr5:45267328C>A ENST00000303230.4 - 7 1703 c.1646G>T c.(1645-1647)cGt>cTt p.R549L NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 549 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 ACTGGCAGTACGACGTCCTTT 0.413000 16 61 0.000566183 0.000647862 0.004990 1 0 LARS 51520 broad.mit.edu 37 5 145547791 145547791 + Missense_Mutation SNP T T C TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr5:145547791T>C ENST00000394434.2 - 5 498 c.332A>G c.(331-333)tAt>tGt p.Y111C LARS_ENST00000510191.1_Missense_Mutation_p.Y57C|LARS_ENST00000274562.9_Missense_Mutation_p.Y84C|LARS_ENST00000545646.1_Intron|LARS_ENST00000511505.1_Intron NM_020117.9 NP_064502.9 Q9P2J5 SYLC_HUMAN leucyl-tRNA synthetase 111 leucyl-tRNA aminoacylation cytosol ATP binding|leucine-tRNA ligase activity|protein binding breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8) 34 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Leucine(DB00149) GGGGCAACCATACAGCTCTAT 0.338000 11 44 0 0 0.010729 0 0 PTPN3 5774 broad.mit.edu 37 9 112168853 112168853 + Silent SNP A A G TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr9:112168853A>G ENST00000412145.1 - 13 3841 c.1288T>C c.(1288-1290)Tta>Cta p.L430L PTPN3_ENST00000446349.1_Silent_p.L385L|PTPN3_ENST00000374541.2_Silent_p.L561L|PTPN3_ENST00000394827.3_Silent_p.L29L|PTPN3_ENST00000262539.3_Silent_p.L407L NM_001145369.1|NM_001145371.1 NP_001138841.1|NP_001138843.1 P26045 PTN3_HUMAN protein tyrosine phosphatase, non-receptor type 3 561 negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 CCATTGATTAACACGATTTGA 0.547000 4 62 0 0 0.014758 0 0 MYOF 26509 broad.mit.edu 37 10 95152686 95152686 + Missense_Mutation SNP C C G TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr10:95152686C>G ENST00000371501.4 - 17 1566 c.1444G>C c.(1444-1446)Gca>Cca p.A482P MYOF_ENST00000371502.4_Missense_Mutation_p.A482P|MYOF_ENST00000359263.4_Missense_Mutation_p.A482P|MYOF_ENST00000358334.5_Intron Q9NZM1 MYOF_HUMAN myoferlin 482 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 GTATATGATGCAGCCCCAGTT 0.323000 41 139 0 0 0.013114 0 0 PALM2 114299 broad.mit.edu 37 9 112642844 112642844 + Missense_Mutation SNP G G A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr9:112642844G>A ENST00000448454.2 + 4 146 c.146G>A c.(145-147)cGg>cAg p.R49Q PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.R47Q|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.R47Q|PALM2_ENST00000314527.4_Missense_Mutation_p.R47Q|AKAP2_ENST00000510514.5_Missense_Mutation_p.R47Q|AKAP2_ENST00000555236.1_Missense_Mutation_p.R47Q|PALM2_ENST00000483909.1_Missense_Mutation_p.R47Q|PALM2_ENST00000374531.2_Missense_Mutation_p.R49Q paralemmin 2 breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1) 18 AAAGTGCTTCGGGAGAAATGG 0.532000 5 63 0 0 0.001168 0 0 CFP 5199 broad.mit.edu 37 X 47489073 47489073 + Splice_Site SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chrX:47489073C>A ENST00000247153.3 - 3 318 c.76_splice c.e3-1 p.G26_splice CFP_ENST00000480317.1_5'UTR|CFP_ENST00000396992.3_Splice_Site_p.G26_splice|CFP_ENST00000377005.2_Splice_Site_p.G26_splice NM_002621.2 NP_002612.1 P27918 PROP_HUMAN complement factor properdin 26 complement activation, alternative pathway|defense response to bacterium extracellular space breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 18 GGGGTCTGAGCCTGTAACAGG 0.657000 5 2 0.00116845 0.00130284 0.001168 1 0 RANBP3 8498 broad.mit.edu 37 19 5928017 5928017 + Missense_Mutation SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr19:5928017C>A ENST00000340578.6 - 9 832 c.775G>T c.(775-777)Gcc>Tcc p.A259S RANBP3_ENST00000591092.1_Missense_Mutation_p.A186S|RANBP3_ENST00000541471.1_Missense_Mutation_p.A131S|RANBP3_ENST00000439268.2_Missense_Mutation_p.A254S|RANBP3_ENST00000034275.8_Missense_Mutation_p.A191S NM_003624.2|NM_007320.2|NM_007322.2 NP_003615.2|NP_015559.2|NP_015561.1 Q9H6Z4 RANB3_HUMAN RAN binding protein 3 259 intracellular transport|protein transport cytoplasm|nucleus Ran GTPase binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 18 AATACAAAGGCTTGCTGTGTG 0.468000 4 21 0.00116845 0.00130284 0.001168 1 0 AIM1 202 broad.mit.edu 37 6 106967309 106967309 + Silent SNP G G C TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr6:106967309G>C ENST00000369066.3 + 2 1489 c.1002G>C c.(1000-1002)gtG>gtC p.V334V NM_001624.2 NP_001615.1 Q9Y4K1 AIM1_HUMAN absent in melanoma 1 334 sugar binding breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 69 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) AGAATGGTGTGCTGGTTAAGG 0.433000 22 31 0 0 0.012319 0 0 DNAH17 8632 broad.mit.edu 37 17 76492015 76492015 + Missense_Mutation SNP T T C TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr17:76492015T>C ENST00000389840.5 - 38 5927 c.5803A>G c.(5803-5805)Atg>Gtg p.M1935V DNAH17_ENST00000585328.1_Missense_Mutation_p.M1944V|RP11-559N14.5_ENST00000591373.1_RNA dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) CCAGGGTTCATGGTGATGAAG 0.532000 3 14 0 0 0.004672 0 0 KIFAP3 22920 broad.mit.edu 37 1 170003569 170003569 + Missense_Mutation SNP T T C TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr1:170003569T>C ENST00000367765.1 - 7 2067 c.566A>G c.(565-567)cAt>cGt p.H189R KIFAP3_ENST00000367767.1_Missense_Mutation_p.H185R|KIFAP3_ENST00000361580.2_Missense_Mutation_p.H229R|KIFAP3_ENST00000538366.1_Missense_Mutation_p.H151R NM_001204517.1 NP_001191446.1 Q92845 KIFA3_HUMAN kinesin-associated protein 3 229 blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule kinesin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2) 35 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TTTTAACTCATGATCAATAAT 0.308000 6 25 0 0 0.001984 0 0 KIAA1549 57670 broad.mit.edu 37 7 138583815 138583815 + Missense_Mutation SNP C C T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr7:138583815C>T ENST00000440172.1 - 9 3781 c.3733G>A c.(3733-3735)Gat>Aat p.D1245N KIAA1549_ENST00000422774.1_Missense_Mutation_p.D1245N|KIAA1549_ENST00000242365.4_Missense_Mutation_p.D1195N NM_001164665.1|NM_020910.2 NP_001158137.1|NP_065961.2 Q9HCM3 K1549_HUMAN KIAA1549 1245 integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 CCATCTTGATCCTCCACAAAG 0.468000 O BRAF pilocytic astrocytoma 99 226 0 0 0.014410 0 0 LPHN3 23284 broad.mit.edu 37 4 62599230 62599230 + Missense_Mutation SNP G G T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr4:62599230G>T ENST00000512091.1 + 7 1900 c.1153G>T c.(1153-1155)Gtg>Ttg p.V385L LPHN3_ENST00000506746.1_Missense_Mutation_p.V453L|LPHN3_ENST00000511324.1_Missense_Mutation_p.V453L|LPHN3_ENST00000509896.1_Missense_Mutation_p.V453L|LPHN3_ENST00000514157.1_Missense_Mutation_p.V385L|LPHN3_ENST00000514996.1_Missense_Mutation_p.V385L|LPHN3_ENST00000507164.1_Missense_Mutation_p.V453L|LPHN3_ENST00000508946.1_Missense_Mutation_p.V385L|LPHN3_ENST00000514591.1_Missense_Mutation_p.V385L|LPHN3_ENST00000506720.1_Missense_Mutation_p.V453L|LPHN3_ENST00000508693.1_Missense_Mutation_p.V453L|LPHN3_ENST00000504896.1_Missense_Mutation_p.V385L|LPHN3_ENST00000545650.1_Missense_Mutation_p.V385L|LPHN3_ENST00000506700.1_Missense_Mutation_p.V385L|LPHN3_ENST00000507625.1_Missense_Mutation_p.V453L Q9HAR2 LPHN3_HUMAN latrophilin 3 385 Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 CTATCACGTCGTGAAATATTC 0.393000 9 20 6.40141e-05 7.651e-05 0.010729 1 0 DTNA 1837 broad.mit.edu 37 18 32391955 32391955 + Missense_Mutation SNP G G T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr18:32391955G>T ENST00000283365.9 + 7 832 c.481G>T c.(481-483)Gtg>Ttg p.V161L DTNA_ENST00000269190.7_Missense_Mutation_p.V161L|DTNA_ENST00000595022.1_Missense_Mutation_p.V161L|DTNA_ENST00000598774.1_Missense_Mutation_p.V161L|DTNA_ENST00000598142.1_Missense_Mutation_p.V161L|DTNA_ENST00000348997.5_Missense_Mutation_p.V161L|DTNA_ENST00000596745.1_Missense_Mutation_p.V161L|DTNA_ENST00000554864.3_Missense_Mutation_p.V161L|DTNA_ENST00000444659.1_Missense_Mutation_p.V161L|DTNA_ENST00000269191.6_Missense_Mutation_p.V161L|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000598334.1_Missense_Mutation_p.V161L|DTNA_ENST00000399121.5_Missense_Mutation_p.V161L|DTNA_ENST00000399113.3_Missense_Mutation_p.V161L|DTNA_ENST00000315456.6_Missense_Mutation_p.V161L|DTNA_ENST00000597599.1_Missense_Mutation_p.V161L NM_032975.3 NP_116757.2 Q9Y4J8 DTNA_HUMAN dystrobrevin, alpha 161 Interaction with MAGEE1 (By similarity). neuromuscular synaptic transmission|signal transduction|striated muscle contraction cell junction|cytoplasm|synapse calcium ion binding|protein binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1) 29 CTCCAGTGGGGTGATGGTTTA 0.383000 12 35 4.36969e-10 6.71816e-10 0.016723 1 0 F8 2157 broad.mit.edu 37 X 154156922 154156922 + Nonsense_Mutation SNP G G A rs137852439 TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chrX:154156922G>A ENST00000360256.4 - 14 5343 c.5143C>T c.(5143-5145)Cga>Tga p.R1715* NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 1715 F5/8 type A 3.|Plastocyanin-like 5. R -> G (in HEMA; mild). acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding p.R1715*(2) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) AAATAGTGTCGTGTTTTCTTT 0.398000 5 55 0 0 0.014758 0 0 CASQ2 845 broad.mit.edu 37 1 116260499 116260499 + Missense_Mutation SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr1:116260499C>A ENST00000261448.5 - 8 1039 c.800G>T c.(799-801)gGg>gTg p.G267V CASQ2_ENST00000456138.2_Missense_Mutation_p.G196V NM_001232.3 NP_001223.2 O14958 CASQ2_HUMAN calsequestrin 2 (cardiac muscle) 267 heart development|striated muscle contraction sarcoplasmic reticulum lumen calcium ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1) 18 Lung SC(450;0.211) all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) AATGTGGATCCCATTCAAATC 0.463000 16 88 6.94344e-10 1.05359e-09 0.006122 1 0 LOC728715 728715 broad.mit.edu 37 12 9716829 9716829 + RNA SNP A A G TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr12:9716829A>G ENST00000520314.1 + 0 4024 GGCTATAATCATGCAATTCTA 0.428000 6 14 0 0 0.006214 0 0 ULK4 54986 broad.mit.edu 37 3 41504623 41504623 + Silent SNP G G A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr3:41504623G>A ENST00000301831.4 - 33 3810 c.3348C>T c.(3346-3348)caC>caT p.H1116H NM_017886.2 NP_060356.2 Q96C45 ULK4_HUMAN unc-51 like kinase 4 1116 ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1) 22 KIRC - Kidney renal clear cell carcinoma(284;0.214) TCAGCATGCTGTGCAAAATAT 0.483000 8 88 0 0 0.003080 0 0 ARHGAP30 257106 broad.mit.edu 37 1 161018085 161018085 + Missense_Mutation SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr1:161018085C>A ENST00000368013.3 - 12 3046 c.2726G>T c.(2725-2727)tGt>tTt p.C909F ARHGAP30_ENST00000368015.1_Missense_Mutation_p.C732F|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.C698F NM_001025598.1|NM_181720.2 NP_001020769.1|NP_859071.2 Q7Z6I6 RHG30_HUMAN Rho GTPase activating protein 30 909 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) GGGGCATAGACAGCCGTCTGG 0.617000 20 24 3.28513e-13 5.51206e-13 0.021523 1 0 RTL1 388015 broad.mit.edu 37 14 101349397 101349397 + Missense_Mutation SNP C C T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr14:101349397C>T ENST00000534062.1 - 1 1787 c.1729G>A c.(1729-1731)Gac>Aac p.D577N MIR127_ENST00000384876.1_RNA NM_001134888.2 NP_001128360.1 E9PKS8 E9PKS8_HUMAN retrotransposon-like 1 577 breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2) 21 CTTGGCTGGTCGGAAGTCTCA 0.557000 8 13 0 0 0.006214 0 0 MYH6 4624 broad.mit.edu 37 14 23853924 23853924 + Silent SNP G G T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr14:23853924G>T ENST00000405093.3 - 36 5362 c.5292C>A c.(5290-5292)gcC>gcA p.A1764A MYH6_ENST00000356287.3_Silent_p.A1764A NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 1764 adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) CCATCATGGCGGCCTGTGTGC 0.602000 13 36 3.51602e-12 5.65479e-12 0.008871 1 0 PCLO 27445 broad.mit.edu 37 7 82764767 82764767 + Missense_Mutation SNP G G A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr7:82764767G>A ENST00000423517.2 - 3 2436 c.2099C>T c.(2098-2100)cCt>cTt p.P700L PCLO_ENST00000333891.8_Missense_Mutation_p.P700L NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 646 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TGGCTTTTTAGGCTCAGGTGC 0.537000 20 58 0 0 0.008871 0 0 NEK5 341676 broad.mit.edu 37 13 52667205 52667205 + Missense_Mutation SNP G G T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr13:52667205G>T ENST00000355568.4 - 13 1332 c.1193C>A c.(1192-1194)cCa>cAa p.P398Q NM_199289.1 NP_954983.1 Q6P3R8 NEK5_HUMAN NIMA-related kinase 5 398 ATP binding|metal ion binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;3.7e-08) ACTTGGGGATGGACCATGCCT 0.373000 12 23 5.50884e-06 6.89098e-06 0.013537 1 0 NEUROD2 4761 broad.mit.edu 37 17 37762594 37762594 + Missense_Mutation SNP C C G TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr17:37762594C>G ENST00000302584.4 - 2 479 c.259G>C c.(259-261)Gag>Cag p.E87Q NM_006160.3 NP_006151.3 Q15784 NDF2_HUMAN neuronal differentiation 2 87 Poly-Glu. cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter nucleus E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(4) 8 Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664) tcctcctcctcttcctcctcc 0.672000 3 28 0 0 0.009096 0 0 CRTAM 56253 broad.mit.edu 37 11 122722484 122722484 + Nonsense_Mutation SNP G G T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr11:122722484G>T ENST00000227348.4 + 3 324 c.277G>T c.(277-279)Gaa>Taa p.E93* NM_019604.2 NP_062550.2 O95727 CRTAM_HUMAN cytotoxic and regulatory T cell molecule 93 Ig-like V-type. cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target integral to membrane|plasma membrane receptor binding breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1) 19 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308) CCTGCAAGATGAAGGCGTGTA 0.458000 12 60 2.27111e-07 3.04853e-07 0.013537 1 0 DLC1 10395 broad.mit.edu 37 8 12943415 12943415 + Nonsense_Mutation SNP T T A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr8:12943415T>A ENST00000276297.4 - 18 4901 c.4492A>T c.(4492-4494)Aaa>Taa p.K1498* DLC1_ENST00000512044.2_Nonsense_Mutation_p.K1095*|DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000520226.1_Nonsense_Mutation_p.K987*|DLC1_ENST00000358919.2_Nonsense_Mutation_p.K1061* NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 1498 START. actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 CCAAAAGATTTTGTGTACCAT 0.378000 13 27 0 0 0.020292 0 0 FAM83D 81610 broad.mit.edu 37 20 37580763 37580763 + Missense_Mutation SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr20:37580763C>A ENST00000217429.4 + 4 1489 c.1448C>A c.(1447-1449)cCt>cAt p.P483H NM_030919.2 NP_112181.2 Q9H4H8 FA83D_HUMAN family with sequence similarity 83, member D 453 Ser-rich. cell division|mitosis cytoplasm|spindle pole endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1) 28 Myeloproliferative disorder(115;0.00878) ATTCTCTTTCCTCGAGGAACT 0.473000 8 51 0.00448238 0.00487337 0.004482 1 0 TRPS1 7227 broad.mit.edu 37 8 116427152 116427152 + Missense_Mutation SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr8:116427152C>A ENST00000395715.3 - 7 3561 c.2984G>T c.(2983-2985)aGg>aTg p.R995M TRPS1_ENST00000220888.5_Missense_Mutation_p.R982M|TRPS1_ENST00000520276.1_Missense_Mutation_p.R986M|TRPS1_ENST00000519076.1_Missense_Mutation_p.R736M NM_014112.2 NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 982 Mediates interaction with RNF4 (By similarity). negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) TTCTGACCTCCTCTCTAACGG 0.488000 Langer-Giedion syndrome 23 77 1.10513e-12 1.83663e-12 0.014323 1 0 ZNF695 57116 broad.mit.edu 37 1 247150661 247150661 + Missense_Mutation SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr1:247150661C>A ENST00000339986.7 - 4 1303 c.1156G>T c.(1156-1158)Ggc>Tgc p.G386C ZNF695_ENST00000498046.2_Intron|ZNF695_ENST00000487338.2_Intron NM_020394.4 NP_065127.4 Q8IW36 ZN695_HUMAN zinc finger protein 695 386 regulation of transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 13 all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) AAAGCTTTGCCACATTCCTCA 0.413000 16 61 1.33834e-09 2.01327e-09 0.007413 1 0 AKAP13 11214 broad.mit.edu 37 15 86129055 86129055 + Splice_Site SNP G G C TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr15:86129055G>C ENST00000394518.2 + 8 4256 c.e8+1 AKAP13_ENST00000361243.2_Splice_Site NM_001270546.1|NM_007200.3 NP_001257475.1|NP_009131.2 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 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|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 GACCCAGGCGGTAAGTGGCAT 0.428000 13 78 0 0 0.003163 0 0 BRCA2 675 broad.mit.edu 37 13 32912687 32912687 + Missense_Mutation SNP T T C TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr13:32912687T>C ENST00000544455.1 + 11 4422 c.4195T>C c.(4195-4197)Tgt>Cgt p.C1399R BRCA2_ENST00000380152.3_Missense_Mutation_p.C1399R NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 1399 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) TCAAGAAGCATGTCATGGTAA 0.328000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 3 19 0 0 0.004672 0 0 SVOPL 136306 broad.mit.edu 37 7 138333867 138333867 + Missense_Mutation SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr7:138333867C>A ENST00000421622.1 - 4 398 c.190G>T c.(190-192)Ggc>Tgc p.G64C SVOPL_ENST00000288513.5_Missense_Mutation_p.G32C|SVOPL_ENST00000419765.3_Missense_Mutation_p.G184C|SVOPL_ENST00000436657.1_Missense_Mutation_p.G32C Q8N434 SVOPL_HUMAN SVOP-like 184 integral to membrane transmembrane transporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 19 AGCAGGGAGCCCGCAAGCCAG 0.473000 9 18 3.41278e-10 5.29361e-10 0.004990 1 0 MYH4 4622 broad.mit.edu 37 17 10350502 10350502 + Missense_Mutation SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr17:10350502C>A ENST00000255381.2 - 35 5107 c.4997G>T c.(4996-4998)aGa>aTa p.R1666I CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1666 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 ATCTTGGCCTCTGATGGCATC 0.468000 9 33 1.12685e-05 1.39458e-05 0.004482 1 0 BSND 7809 broad.mit.edu 37 1 55474144 55474144 + Missense_Mutation SNP G G T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr1:55474144G>T ENST00000371265.4 + 4 1060 c.806G>T c.(805-807)cGg>cTg p.R269L NM_057176.2 NP_476517.1 Q8WZ55 BSND_HUMAN Bartter syndrome, infantile, with sensorineural deafness (Barttin) 269 basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 17 AACTGGCAGCGGTACCCAAGG 0.577000 10 16 7.48243e-07 9.70769e-07 0.006214 1 0 ZNF713 349075 broad.mit.edu 37 7 56006849 56006849 + Missense_Mutation SNP A A G TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr7:56006849A>G ENST00000429591.2 + 4 481 c.443A>G c.(442-444)aAg>aGg p.K148R MRPS17_ENST00000426595.1_Intron NM_182633.1 NP_872439.1 Q8N859 ZN713_HUMAN zinc finger protein 713 148 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) GAAAACCACAAGAGATATTTA 0.403000 12 56 0 0 0.010729 0 0 PYGB 5834 broad.mit.edu 37 20 25276279 25276279 + Silent SNP C C T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr20:25276279C>T ENST00000216962.4 + 19 2462 c.2352C>T c.(2350-2352)tgC>tgT p.C784C PYGB_ENST00000471359.1_3'UTR|ABHD12_ENST00000376542.3_Intron NM_002862.3 NP_002853.2 P11216 PYGB_HUMAN phosphorylase, glycogen; brain 784 glucose metabolic process|glycogen catabolic process cytoplasm glycogen phosphorylase activity|pyridoxal phosphate binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 31 Pyridoxal Phosphate(DB00114) ACATGCAGTGCCAGGCACAGG 0.602000 3 18 0 0 0.004672 0 0 CSMD2 114784 broad.mit.edu 37 1 34088983 34088983 + Silent SNP C C T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr1:34088983C>T ENST00000373381.4 - 36 5885 c.5709G>A c.(5707-5709)ctG>ctA p.L1903L CSMD2_ENST00000373388.2_Silent_p.L2L|CSMD2_ENST00000373380.1_Silent_p.L776L|CSMD2_ENST00000373377.1_Silent_p.L2L NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1863 CUB 11. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) AGAAACTCCCCAGCATGGTTA 0.433000 14 34 0 0 0.004007 0 0 DCDC1 341019 broad.mit.edu 37 11 30926637 30926637 + Missense_Mutation SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr11:30926637C>A ENST00000597505.1 - 29 4178 c.4179G>T c.(4177-4179)aaG>aaT p.K1393N DCDC1_ENST00000339794.5_Missense_Mutation_p.K472N|DCDC1_ENST00000406071.2_Missense_Mutation_p.K128N P59894 DCDC1_HUMAN doublecortin domain containing 1 155 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) GCGTGCAGGTCTTCATCCGTA 0.408000 7 9 1.06961e-07 1.48723e-07 0.003080 1 0 BMS1 9790 broad.mit.edu 37 10 43292056 43292056 + Missense_Mutation SNP G G T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr10:43292056G>T ENST00000374518.4 + 10 1427 c.1364G>T c.(1363-1365)gGg>gTg p.G455V NM_014753.3 NP_055568.3 Q14692 BMS1_HUMAN BMS1 ribosome biogenesis factor 455 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity p.G455V(1) NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 GAAGATGACGGGTTGGAAAAC 0.438000 13 94 0.000219431 0.000254424 0.020292 1 0 GCC1 79571 broad.mit.edu 37 7 127222355 127222355 + Missense_Mutation SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr7:127222355C>A ENST00000321407.2 - 2 2465 c.2041G>T c.(2041-2043)Gtg>Ttg p.V681L NM_024523.5 NP_078799.2 Q96CN9 GCC1_HUMAN GRIP and coiled-coil domain containing 1 681 Golgi membrane|plasma membrane protein binding breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 AGCTGATGCACCTCGACCTCC 0.587000 8 33 4.7546e-09 7.00151e-09 0.004007 1 0 LPPR4 9890 broad.mit.edu 37 1 99771331 99771331 + Missense_Mutation SNP G G T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr1:99771331G>T ENST00000370185.3 + 7 1554 c.1057G>T c.(1057-1059)Gat>Tat p.D353Y LPPR4_ENST00000370184.1_Missense_Mutation_p.D195Y|LPPR4_ENST00000457765.1_Missense_Mutation_p.D295Y NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN 353 phosphatidate phosphatase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 72 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) CCTCAATCAAGATCCCAACCG 0.478000 5 102 8.12818e-05 9.58357e-05 0.001984 1 0 COL5A3 50509 broad.mit.edu 37 19 10106290 10106290 + Missense_Mutation SNP G G A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr19:10106290G>A ENST00000264828.3 - 16 1622 c.1537C>T c.(1537-1539)Ccc>Tcc p.P513S NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 513 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) AGGCCTCGGGGACCCTAGAAG 0.493000 8 41 0 0 0.008291 0 0 TNNI3 7137 broad.mit.edu 37 19 55665443 55665443 + Missense_Mutation SNP G G T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr19:55665443G>T ENST00000344887.5 - 7 646 c.504C>A c.(502-504)gaC>gaA p.D168E TNNI3_ENST00000588882.1_Missense_Mutation_p.D143E NM_000363.4 NP_000354.4 P19429 TNNI3_HUMAN troponin I type 3 (cardiac) 168 cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis cytosol|troponin complex actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1) 12 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0452) GGGCCCGCAGGTCCAGGGACT 0.627000 7 37 8.12818e-05 9.58357e-05 0.001984 1 0 PCDHB8 56128 broad.mit.edu 37 5 140558412 140558412 + Missense_Mutation SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr5:140558412C>A ENST00000239444.2 + 1 1042 c.797C>A c.(796-798)tCt>tAt p.S266Y NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 266 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GTGAAGGTCTCTGCCACGGAT 0.438000 19 89 2.32416e-17 4.11742e-17 0.014323 1 0 PLK1 5347 broad.mit.edu 37 16 23700048 23700048 + Missense_Mutation SNP T T G TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr16:23700048T>G ENST00000300093.4 + 7 1363 c.1252T>G c.(1252-1254)Tcg>Gcg p.S418A NM_005030.3 NP_005021.2 P53350 PLK1_HUMAN polo-like kinase 1 418 POLO box 1. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 GBM - Glioblastoma multiforme(48;0.0156) GGTGGACTATTCGGACAAGTA 0.527000 4 52 0 0 0.014758 0 0 PCDH17 27253 broad.mit.edu 37 13 58207420 58207420 + Missense_Mutation SNP C C T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr13:58207420C>T ENST00000377918.3 + 1 766 c.740C>T c.(739-741)tCc>tTc p.S247F NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 247 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) GAGGCGCCATCCTACTTGGTG 0.597000 13 26 0 0 0.016723 0 0 CCNYL1 151195 broad.mit.edu 37 2 208611892 208611892 + Missense_Mutation SNP A A T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr2:208611892A>T ENST00000295414.3 + 8 972 c.761A>T c.(760-762)aAt>aTt p.N254I CCNYL1_ENST00000392209.3_Missense_Mutation_p.N184I|CCNYL1_ENST00000339882.5_Missense_Mutation_p.N203I Q8N7R7 CCYL1_HUMAN cyclin Y-like 1 254 Cyclin N-terminal. regulation of cyclin-dependent protein kinase activity protein kinase binding endometrium(1)|large_intestine(1)|lung(3) 5 LUSC - Lung squamous cell carcinoma(261;0.0731)|Epithelial(149;0.139)|Lung(261;0.14) GCTGTATGGAATGTGGACTAC 0.433000 17 42 0 0 0.006122 0 0 GPR128 84873 broad.mit.edu 37 3 100365438 100365438 + Missense_Mutation SNP A A C TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr3:100365438A>C ENST00000273352.3 + 10 1404 c.1136A>C c.(1135-1137)tAt>tCt p.Y379S GPR128_ENST00000475887.1_Missense_Mutation_p.Y84S NM_032787.2 NP_116176.2 Q96K78 GP128_HUMAN G protein-coupled receptor 128 379 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 56 TTTCAACTCTATTCCTATGCC 0.373000 7 22 0 0 0.004482 0 0 PCDHA10 56139 broad.mit.edu 37 5 140237858 140237858 + Missense_Mutation SNP C C T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr5:140237858C>T ENST00000307360.5 + 1 2225 c.2225C>T c.(2224-2226)gCg>gTg p.A742V PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCTCTAGCGCGGTGGGGAGC 0.682000 5 20 0 0 0.014758 0 0 ZNF98 148198 broad.mit.edu 37 19 22574940 22574940 + Missense_Mutation SNP G G T rs74170714 TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr19:22574940G>T ENST00000357774.5 - 4 1218 c.1097C>A c.(1096-1098)aCt>aAt p.T366N NM_001098626.1 NP_001092096.1 A6NK75 ZNF98_HUMAN zinc finger protein 98 366 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) CTTATGTGTAGTAAGGTGGGA 0.383000 3 12 0.00116845 0.00130284 0.001168 1 0 DHX40 79665 broad.mit.edu 37 17 57647932 57647932 + Missense_Mutation SNP A A G TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr17:57647932A>G ENST00000451169.2 + 3 396 c.37A>G c.(37-39)Ata>Gta p.I13V DHX40_ENST00000425628.3_Intron|DHX40_ENST00000251241.4_Missense_Mutation_p.I112V Q8IX18 DHX40_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 40 112 ATP binding|ATP-dependent helicase activity|nucleic acid binding endometrium(7)|large_intestine(6)|lung(6)|prostate(1) 20 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) AGTAGCTGCTATATCAGTTGC 0.373000 9 67 0 0 0.010729 0 0 DSP 1832 broad.mit.edu 37 6 7578716 7578716 + Missense_Mutation SNP G G T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr6:7578716G>T ENST00000379802.3 + 22 3346 c.3005G>T c.(3004-3006)cGg>cTg p.R1002L DSP_ENST00000418664.2_Missense_Mutation_p.R1002L NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 1002 Globular 1. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) GTTCATGCTCGGTACATTGAA 0.343000 20 35 1.28384e-07 1.7571e-07 0.012319 1 0 NRSN1 140767 broad.mit.edu 37 6 24145856 24145856 + Silent SNP C C T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr6:24145856C>T ENST00000378491.4 + 4 571 c.270C>T c.(268-270)atC>atT p.I90I NM_080723.4 NP_542454.3 Q8IZ57 NRSN1_HUMAN neurensin 1 90 nervous system development growth cone|integral to membrane|neuronal cell body|transport vesicle breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 22 CCCCCAAAATCGAAGCATTTG 0.488000 28 62 0 0 0.010818 0 0 CAMKV 79012 broad.mit.edu 37 3 49897637 49897637 + Missense_Mutation SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr3:49897637C>A ENST00000477224.1 - 10 1387 c.909G>T c.(907-909)caG>caT p.Q303H CAMKV_ENST00000463537.1_Missense_Mutation_p.Q303H|CAMKV_ENST00000296471.7_Missense_Mutation_p.Q275H|CAMKV_ENST00000467248.1_Missense_Mutation_p.Q228H|CAMKV_ENST00000466940.1_Missense_Mutation_p.Q260H|CAMKV_ENST00000488336.1_Missense_Mutation_p.Q303H Q8NCB2 CAMKV_HUMAN CaM kinase-like vesicle-associated 303 cytoplasmic vesicle membrane|plasma membrane ATP binding|protein serine/threonine kinase activity central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2) 7 BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) TCTTTTCAATCTGGGCACAGA 0.478000 7 22 2.0095e-06 2.55024e-06 0.001984 1 0 LRRC6 23639 broad.mit.edu 37 8 133596010 133596010 + Missense_Mutation SNP G G A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr8:133596010G>A ENST00000519595.1 - 11 1255 c.1157C>T c.(1156-1158)aCa>aTa p.T386I LRRC6_ENST00000250173.1_Missense_Mutation_p.T386I|LRRC6_ENST00000518642.1_Missense_Mutation_p.T383I Q86X45 LRRC6_HUMAN leucine rich repeat containing 6 386 CS. cytoplasm breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2) 34 Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) CTGACCACCTGTGATTACTTC 0.378000 12 46 0 0 0.013537 0 0 CECR2 27443 broad.mit.edu 37 22 18022674 18022674 + Missense_Mutation SNP G G C TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr22:18022674G>C ENST00000262608.8 + 15 2779 c.2779G>C c.(2779-2781)Gag>Cag p.E927Q CECR2_ENST00000400585.2_Missense_Mutation_p.E785Q|CECR2_ENST00000400573.4_Missense_Mutation_p.E926Q NM_031413.3 NP_113601.2 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 968 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 59 all_epithelial(15;0.139) Lung(27;0.146) TGAAGCACAAGAGCCTGAGAA 0.493000 19 16 0 0 0.021523 0 0 SPTA1 6708 broad.mit.edu 37 1 158641242 158641242 + Splice_Site SNP G G T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr1:158641242G>T ENST00000368148.3 - 12 1670 c.1488_splice c.e12-1 p.A497_splice SPTA1_ENST00000368147.3_Splice_Site_p.A497_splice NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 497 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TTCCAGGAAGGCCTGTAGAAG 0.493000 22 21 9.95505e-16 1.72851e-15 0.014323 1 0 ZNF568 374900 broad.mit.edu 37 19 37441034 37441034 + Missense_Mutation SNP A A T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr19:37441034A>T ENST00000415168.1 + 5 1163 c.787A>T c.(787-789)Att>Ttt p.I263F ZNF568_ENST00000333987.7_Missense_Mutation_p.I327F|ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000455427.2_Intron NM_001204837.1 NP_001191766.1 Q3ZCX4 ZN568_HUMAN zinc finger protein 568 327 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1) 29 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ACATGAGCGAATTCACACTGG 0.398000 6 27 0 0 0.001984 0 0 PARD3B 117583 broad.mit.edu 37 2 205989156 205989156 + Missense_Mutation SNP A A G TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr2:205989156A>G ENST00000406610.2 + 9 1478 c.1271A>G c.(1270-1272)gAt>gGt p.D424G PARD3B_ENST00000351153.1_Missense_Mutation_p.D424G|PARD3B_ENST00000358768.2_Missense_Mutation_p.D424G|PARD3B_ENST00000349953.3_Missense_Mutation_p.D424G|PARD3B_ENST00000462231.1_Missense_Mutation_p.D424G NM_057177.6|NM_152526.5|NM_205863.3 NP_476518.4|NP_689739.4|NP_995585.2 Q8TEW8 PAR3L_HUMAN par-3 family cell polarity regulator beta 424 PDZ 2. cell cycle|cell division endomembrane system|tight junction breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 65 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) GCAATAAAAGATGGCCGCCTA 0.378000 13 38 0 0 0.020292 0 0 SYNE1 23345 broad.mit.edu 37 6 152712447 152712447 + Missense_Mutation SNP T T G TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr6:152712447T>G ENST00000367255.5 - 52 8570 c.7969A>C c.(7969-7971)Aaa>Caa p.K2657Q SYNE1_ENST00000423061.1_Missense_Mutation_p.K2664Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.K2696Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.K2664Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.K2657Q NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 2657 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AGGGTGTCTTTGCTCCCAAGA 0.517000 HNSCC(10;0.0054) 7 14 0 0 0.003080 0 0 PHLDB1 23187 broad.mit.edu 37 11 118498238 118498238 + Silent SNP G G T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr11:118498238G>T ENST00000361417.2 + 7 1110 c.699G>T c.(697-699)ctG>ctT p.L233L PHLDB1_ENST00000356063.5_Silent_p.L233L NM_015157.3 NP_055972.1 Q86UU1 PHLB1_HUMAN pleckstrin homology-like domain, family B, member 1 233 breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1) 46 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) GCTACCTGCTGTCTCCCCCAA 0.607000 27 82 2.70662e-09 4.0368e-09 0.009535 1 0 UHRF1BP1L 23074 broad.mit.edu 37 12 100451511 100451511 + Nonsense_Mutation SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr12:100451511C>A ENST00000279907.7 - 15 3474 c.3262G>T c.(3262-3264)Gaa>Taa p.E1088* UHRF1BP1L_ENST00000545232.2_Nonsense_Mutation_p.E738* NM_015054.1 NP_055869.1 A0JNW5 UH1BL_HUMAN UHRF1 binding protein 1-like 1088 breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 50 GGGCAACGTTCCTTAGGCTTT 0.313000 4 6 0.00198382 0.00217721 0.001984 1 0 SLC45A2 51151 broad.mit.edu 37 5 33947341 33947341 + Missense_Mutation SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr5:33947341C>A ENST00000382102.3 - 6 1352 c.1295G>T c.(1294-1296)gGt>gTt p.G432V SLC45A2_ENST00000296589.4_Missense_Mutation_p.G432V|SLC45A2_ENST00000342059.3_Missense_Mutation_p.G373V NM_001012509.2 NP_001012527.1 Q9UMX9 S45A2_HUMAN solute carrier family 45, member 2 432 melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception integral to membrane|melanosome membrane breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 GGACATTACACCAAACAGGCT 0.517000 12 227 2.27111e-07 3.04853e-07 0.013537 1 0 NSUN2 54888 broad.mit.edu 37 5 6609940 6609940 + Splice_Site SNP T T A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr5:6609940T>A ENST00000264670.6 - 12 1633 c.1323_splice c.e12+1 p.K441_splice NSUN2_ENST00000506139.1_Splice_Site_p.K406_splice|NSUN2_ENST00000539938.1_Splice_Site_p.K205_splice NM_017755.5 NP_060225.4 Q08J23 NSUN2_HUMAN NOP2/Sun RNA methyltransferase family, member 2 441 cytoplasm|nucleolus tRNA (cytosine-5-)-methyltransferase activity|tRNA binding breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 41 AAAACTCACCTTTGGCTGACG 0.368000 8 47 0 0 0.004482 0 0 PLEC 5339 broad.mit.edu 37 8 144993934 144993934 + Missense_Mutation SNP T T G TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr8:144993934T>G ENST00000322810.4 - 32 10635 c.10466A>C c.(10465-10467)cAg>cCg p.Q3489P PLEC_ENST00000345136.3_Missense_Mutation_p.Q3352P|PLEC_ENST00000398774.2_Missense_Mutation_p.Q3320P|PLEC_ENST00000357649.2_Missense_Mutation_p.Q3356P|PLEC_ENST00000436759.2_Missense_Mutation_p.Q3379P|PLEC_ENST00000527096.1_Missense_Mutation_p.Q3375P|PLEC_ENST00000354958.2_Missense_Mutation_p.Q3330P|PLEC_ENST00000354589.3_Missense_Mutation_p.Q3352P|PLEC_ENST00000356346.3_Missense_Mutation_p.Q3338P NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 3489 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 GCCACTGCCCTGCAGCAGCGT 0.652000 6 12 0 0 0.013537 0 0 FMN2 56776 broad.mit.edu 37 1 240341343 240341343 + Missense_Mutation SNP A A T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr1:240341343A>T ENST00000319653.9 + 3 2135 c.1905A>T c.(1903-1905)gaA>gaT p.E635D RP11-567G24.3_ENST00000412311.1_RNA|RP11-567G24.3_ENST00000444308.1_RNA NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 635 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CCGATGAGGAACACAGGCTCG 0.468000 4 50 0 0 0.001168 0 0 C1orf162 128346 broad.mit.edu 37 1 112020713 112020713 + Missense_Mutation SNP A A T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr1:112020713A>T ENST00000343534.5 + 6 686 c.436A>T c.(436-438)Att>Ttt p.I146F C1orf162_ENST00000369718.3_Missense_Mutation_p.I121F|C1orf162_ENST00000464591.1_3'UTR NM_174896.2 NP_777556.1 Q8NEQ5 CA162_HUMAN chromosome 1 open reading frame 162 146 integral to membrane NS(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1) 5 all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043) Lung(183;0.0236)|Colorectal(144;0.0286)|all cancers(265;0.0572)|Epithelial(280;0.0862)|COAD - Colon adenocarcinoma(174;0.112)|LUSC - Lung squamous cell carcinoma(189;0.134) CTTTGACCCCATTGTCTATGC 0.423000 16 63 0 0 0.006122 0 0 GABRA2 2555 broad.mit.edu 37 4 46307650 46307650 + Missense_Mutation SNP G G T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr4:46307650G>T ENST00000510861.1 - 7 811 c.638C>A c.(637-639)tCt>tAt p.S213Y GABRA2_ENST00000515082.1_Missense_Mutation_p.S213Y|GABRA2_ENST00000381620.4_Missense_Mutation_p.S213Y|GABRA2_ENST00000514090.1_Missense_Mutation_p.S213Y|GABRA2_ENST00000507069.1_Missense_Mutation_p.S213Y|GABRA2_ENST00000356504.1_Missense_Mutation_p.S213Y|GABRA2_ENST00000540012.1_Missense_Mutation_p.S158Y P47869 GBRA2_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 2 213 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 56 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) ATTTAACCTAGAGCCATCAGG 0.368000 10 51 7.48243e-07 9.70769e-07 0.006214 1 0 TCHH 7062 broad.mit.edu 37 1 152083862 152083862 + Nonsense_Mutation SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr1:152083862C>A ENST00000368804.1 - 2 1830 c.1831G>T c.(1831-1833)Gag>Tag p.E611* NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 611 9 X 28 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCCTCCTGCTCGAGTCTCTCC 0.682000 20 28 8.73648e-17 1.53991e-16 0.019004 1 0 ZNRF4 148066 broad.mit.edu 37 19 5456479 5456479 + Missense_Mutation SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr19:5456479C>A ENST00000222033.4 + 1 1054 c.977C>A c.(976-978)cCc>cAc p.P326H NM_181710.3 NP_859061.3 Q8WWF5 ZNRF4_HUMAN zinc and ring finger 4 326 integral to membrane zinc ion binding NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (162;0.0002) AAGATCCTGCCCTGCTCCCAC 0.622000 7 47 0.000157383 0.000183089 0.003080 1 0 NGEF 25791 broad.mit.edu 37 2 233785158 233785158 + Nonsense_Mutation SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr2:233785158C>A ENST00000264051.3 - 5 942 c.664G>T c.(664-666)Gag>Tag p.E222* NGEF_ENST00000409079.1_Nonsense_Mutation_p.E130*|NGEF_ENST00000373552.4_Nonsense_Mutation_p.E130* NM_019850.2 NP_062824.2 Q8N5V2 NGEF_HUMAN neuronal guanine nucleotide exchange factor 222 Poly-Glu.|Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity). apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|growth cone|plasma membrane Rho guanyl-nucleotide exchange factor activity central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4) 35 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604) tcctcctcctcctcttcttct 0.572000 13 23 0.00010058 0.000117793 0.013537 1 0 VIT 5212 broad.mit.edu 37 2 36982177 36982177 + Missense_Mutation SNP G G T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr2:36982177G>T ENST00000379242.3 + 5 691 c.389G>T c.(388-390)aGa>aTa p.R130I VIT_ENST00000401530.1_Missense_Mutation_p.R130I|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000457137.2_Missense_Mutation_p.R130I|VIT_ENST00000379241.3_Missense_Mutation_p.R130I|VIT_ENST00000404084.1_Missense_Mutation_p.R108I|VIT_ENST00000389975.3_Missense_Mutation_p.R130I NM_053276.3 NP_444506.2 Q6UXI7 VITRN_HUMAN vitrin 130 LCCL. proteinaceous extracellular matrix autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_hematologic(82;0.248) CCACGATGGAGAGAATCCTTT 0.438000 15 52 3.51602e-12 5.65479e-12 0.008871 1 0 FBN1 2200 broad.mit.edu 37 15 48726890 48726890 + Missense_Mutation SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr15:48726890C>A ENST00000316623.5 - 54 6972 c.6517G>T c.(6517-6519)Ggc>Tgc p.G2173C NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 2173 EGF-like 37; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) CAAGGATTGCCAACAGAACAT 0.408000 8 36 7.48243e-07 9.70769e-07 0.006214 1 0 ASTN2 23245 broad.mit.edu 37 9 119737556 119737556 + Missense_Mutation SNP T T C TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr9:119737556T>C ENST00000313400.4 - 10 1920 c.1820A>G c.(1819-1821)gAg>gGg p.E607G ASTN2_ENST00000361209.2_Missense_Mutation_p.E556G|ASTN2_ENST00000373996.3_Missense_Mutation_p.E603G|ASTN2_ENST00000361477.3_5'UTR O75129 ASTN2_HUMAN astrotactin 2 607 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 GATGGACAGCTCCACAGGCGG 0.547000 11 56 0 0 0.013537 0 0 EPHA3 2042 broad.mit.edu 37 3 89499516 89499516 + Missense_Mutation SNP G G T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr3:89499516G>T ENST00000336596.2 + 15 2911 c.2686G>T c.(2686-2688)Gca>Tca p.A896S EPHA3_ENST00000494014.1_Missense_Mutation_p.A896S NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 896 extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) CAGTGCAGCCGCAAGGTGACA 0.428000 TSP Lung(6;0.00050) 22 20 2.98393e-07 3.99001e-07 0.016522 1 0 SV2C 22987 broad.mit.edu 37 5 75427579 75427579 + Missense_Mutation SNP G G C TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr5:75427579G>C ENST00000502798.2 + 2 446 c.4G>C c.(4-6)Gaa>Caa p.E2Q SV2C_ENST00000322285.7_Missense_Mutation_p.E2Q NM_014979.1 NP_055794.1 Q496J9 SV2C_HUMAN synaptic vesicle glycoprotein 2C 2 Interaction with SYT1 (By similarity). neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) AGATAAGATGGAAGACTCTTA 0.443000 21 63 0 0 0.016522 0 0 NXPE1 120400 broad.mit.edu 37 11 114392743 114392743 + Missense_Mutation SNP G G T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr11:114392743G>T ENST00000536271.1 - 4 1982 c.739C>A c.(739-741)Cct>Act p.P247T NXPE1_ENST00000251921.2_Missense_Mutation_p.P389T|NXPE1_ENST00000424269.1_Missense_Mutation_p.P531T neurexophilin and PC-esterase domain family, member 1 ACATGATCAGGTGGGTGGATA 0.383000 19 103 1.55795e-14 2.65231e-14 0.012319 1 0 DENND5B 160518 broad.mit.edu 37 12 31632547 31632547 + Missense_Mutation SNP T T C TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr12:31632547T>C ENST00000389082.5 - 3 1144 c.880A>G c.(880-882)Atg>Gtg p.M294V DENND5B_ENST00000536562.1_Missense_Mutation_p.M329V|DENND5B_ENST00000545147.1_Intron|DENND5B_ENST00000354285.4_Missense_Mutation_p.M316V|DENND5B_ENST00000306833.6_Missense_Mutation_p.M329V NM_144973.3 NP_659410.3 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 294 DENN. integral to membrane NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 AGGATTTGCATCTCTAAAAGA 0.453000 4 14 0 0 0.014758 0 0 CTC1 80169 broad.mit.edu 37 17 8139421 8139421 + Silent SNP C C T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr17:8139421C>T ENST00000315684.8 - 6 1039 c.1032G>A c.(1030-1032)aaG>aaA p.K344K NM_025099.5 NP_079375.3 Q2NKJ3 CTC1_HUMAN CTS telomere maintenance complex component 1 344 positive regulation of DNA replication|telomere maintenance Stn1-Ten1 complex protein binding|single-stranded DNA binding NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4) 29 TTTCTGGATCCTTCTTGTCCT 0.532000 5 147 0 0 0.001168 0 0 APOB 338 broad.mit.edu 37 2 21236288 21236288 + Silent SNP G G T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr2:21236288G>T ENST00000233242.1 - 25 4087 c.3960C>A c.(3958-3960)gcC>gcA p.A1320A NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 1320 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TGAAGTGGAGGGCTGGTGTCC 0.448000 30 89 1.55811e-20 2.81752e-20 0.008361 1 0 LRP1B 53353 broad.mit.edu 37 2 141027816 141027816 + Silent SNP C C T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr2:141027816C>T ENST00000389484.3 - 86 14213 c.13242G>A c.(13240-13242)gtG>gtA p.V4414V NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4414 EGF-like 14. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CTCACAGACACACAGGTACAT 0.413000 TSP Lung(27;0.18) 6 40 0 0 0.001168 0 0 DNM1P46 196968 broad.mit.edu 37 15 100331113 100331113 + RNA SNP G G T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr15:100331113G>T ENST00000341853.1 - 0 3078 NR_003260.1 TGCATGGACAGCTTTCCTTGT 0.552000 5 23 0.014758 0.0156551 0.014758 1 0 GGCX 2677 broad.mit.edu 37 2 85783362 85783362 + Missense_Mutation SNP A A C TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr2:85783362A>C ENST00000233838.3 - 5 641 c.561T>G c.(559-561)aaT>aaG p.N187K GGCX_ENST00000430215.3_Missense_Mutation_p.N130K NM_000821.5 NP_000812.2 P38435 VKGC_HUMAN gamma-glutamyl carboxylase 187 blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification endoplasmic reticulum membrane|integral to membrane|membrane fraction gamma-glutamyl carboxylase activity endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2) 15 Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022) TCCTATGGGCATTCAGCAGAC 0.527000 8 29 0 0 0.003080 0 0 OR4S2 219431 broad.mit.edu 37 11 55419256 55419256 + Missense_Mutation SNP A A G TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr11:55419256A>G ENST00000312422.2 + 1 877 c.877A>G c.(877-879)Aag>Gag p.K293E NM_001004059.2 NP_001004059.2 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, member 2 293 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_epithelial(135;0.0748) TGCAGAAGTAAAGAATGCAAT 0.358000 17 82 0 0 0.010504 0 0 NIN 51199 broad.mit.edu 37 14 51243814 51243814 + Missense_Mutation SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr14:51243814C>A ENST00000245441.5 - 7 709 c.519G>T c.(517-519)caG>caT p.Q173H NIN_ENST00000389868.3_Missense_Mutation_p.Q173H|NIN_ENST00000530997.2_Missense_Mutation_p.Q173H|NIN_ENST00000324330.9_Missense_Mutation_p.Q173H|NIN_ENST00000453196.1_Missense_Mutation_p.Q173H|NIN_ENST00000382041.3_Missense_Mutation_p.Q173H|NIN_ENST00000382043.4_Missense_Mutation_p.Q173H NM_020921.3 NP_065972.3 Q8N4C6 NIN_HUMAN ninein (GSK3B interacting protein) 173 centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 71 all_epithelial(31;0.00244)|Breast(41;0.127) AAGATCCACTCTGTGAAGCAT 0.478000 T PDGFRB MPD 12 46 1.5739e-10 2.45219e-10 0.004007 1 0 OR13G1 441933 broad.mit.edu 37 1 247836151 247836151 + Missense_Mutation SNP C C G rs141463427 TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr1:247836151C>G ENST00000359688.2 - 1 214 c.193G>C c.(193-195)Gtt>Ctt p.V65L RP11-634B7.4_ENST00000449298.1_RNA NM_001005487.1 NP_001005487.1 Q8NGZ3 O13G1_HUMAN olfactory receptor, family 13, subfamily G, member 1 65 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2) 35 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) ATGTCCACAACAGCCAGTGTC 0.448000 16 24 0 0 0.004990 0 0 IBTK 25998 broad.mit.edu 37 6 82911190 82911190 + Missense_Mutation SNP A A T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr6:82911190A>T ENST00000306270.7 - 19 3288 c.2739T>A c.(2737-2739)gaT>gaA p.D913E IBTK_ENST00000503631.1_Missense_Mutation_p.D712E|IBTK_ENST00000510291.1_Missense_Mutation_p.D913E NM_015525.2 NP_056340.2 Q9P2D0 IBTK_HUMAN inhibitor of Bruton agammaglobulinemia tyrosine kinase 913 negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol cytoplasm|membrane|nucleus protein kinase binding|protein tyrosine kinase inhibitor activity central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037) BRCA - Breast invasive adenocarcinoma(397;0.0901) CGCTTAAAACATCAAGAGACC 0.318000 4 11 0 0 0.001168 0 0 IL12RB1 3594 broad.mit.edu 37 19 18179326 18179326 + Missense_Mutation SNP G G T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr19:18179326G>T ENST00000600835.1 - 12 1503 c.1200C>A c.(1198-1200)agC>agA p.S400R IL12RB1_ENST00000593993.1_Missense_Mutation_p.S400R|IL12RB1_ENST00000430026.2_Missense_Mutation_p.S400R P42701 I12R1_HUMAN interleukin 12 receptor, beta 1 400 Fibronectin type-III 4. cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response interleukin-12 receptor complex|interleukin-23 receptor complex cytokine receptor activity endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2) 8 CTCGACTCCAGCTGTAGGTTG 0.552000 25 65 7.01153e-11 1.10226e-10 0.007291 1 0 TENM3 55714 broad.mit.edu 37 4 183522271 183522271 + Nonsense_Mutation SNP C C T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr4:183522271C>T ENST00000511685.1 + 4 829 c.706C>T c.(706-708)Cag>Tag p.Q236* TENM3_ENST00000406950.2_Nonsense_Mutation_p.Q236* teneurin transmembrane protein 3 CGTCCAGCTGCAGGACAGCTG 0.532000 30 35 0 0 0.010771 0 0 OFCC1 266553 broad.mit.edu 37 6 9897138 9897138 + Nonsense_Mutation SNP G G T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr6:9897138G>T ENST00000316020.6 - 7 809 c.810C>A c.(808-810)taC>taA p.Y270* OFCC1_ENST00000472329.1_5'UTR orofacial cleft 1 candidate 1 endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|stomach(1) 11 Ovarian(93;0.0473)|Breast(50;0.201) all_hematologic(90;0.124) GCTCTCTATAGTACCTCCTGC 0.418000 8 29 6.5536e-12 1.04918e-11 0.003080 1 0 IRGQ 126298 broad.mit.edu 37 19 44096260 44096260 + Missense_Mutation SNP G G A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr19:44096260G>A ENST00000422989.1 - 3 1945 c.1790C>T c.(1789-1791)gCt>gTt p.A597V IRGQ_ENST00000602269.1_Missense_Mutation_p.A597V|L34079.2_ENST00000594374.1_Intron|IRGQ_ENST00000601520.1_Intron NM_001007561.2 NP_001007562.1 Q8WZA9 IRGQ_HUMAN immunity-related GTPase family, Q 597 Ala-rich. protein binding endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3) 18 Prostate(69;0.0199) GACGCCGTGAGCCGCTCGGTA 0.711000 6 3 0 0 0.004482 0 0 SRCAP 10847 broad.mit.edu 37 16 30733964 30733964 + Missense_Mutation SNP G G T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr16:30733964G>T ENST00000262518.4 + 23 4172 c.3787G>T c.(3787-3789)Gtg>Ttg p.V1263L SRCAP_ENST00000344771.4_Intron|SRCAP_ENST00000395059.2_Intron NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 1263 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) CATCCAGGCCGTGGCCCCGAC 0.647000 7 350 0.00307968 0.00335877 0.003080 1 0 LTBP1 4052 broad.mit.edu 37 2 33622279 33622279 + Missense_Mutation SNP G G T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr2:33622279G>T ENST00000404816.2 + 33 5267 c.4914G>T c.(4912-4914)agG>agT p.R1638S LTBP1_ENST00000354476.3_Missense_Mutation_p.R1639S|LTBP1_ENST00000418533.2_Missense_Mutation_p.R1270S|LTBP1_ENST00000402934.1_Missense_Mutation_p.R1257S|LTBP1_ENST00000272273.5_Missense_Mutation_p.R536S|LTBP1_ENST00000407925.1_Missense_Mutation_p.R1312S|LTBP1_ENST00000404525.1_Missense_Mutation_p.R1259S|LTBP1_ENST00000390003.4_Missense_Mutation_p.R1313S Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 1638 EGF-like 17. negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) GCTGTGTGAGGGTCCAGGAAG 0.473000 18 29 3.51602e-12 5.65479e-12 0.008871 1 0 PITPNM3 83394 broad.mit.edu 37 17 6367063 6367063 + Silent SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr17:6367063C>A ENST00000262483.8 - 17 2382 c.2295G>T c.(2293-2295)gtG>gtT p.V765V ACKR6_ENST00000576664.1_5'UTR|ACKR6_ENST00000421306.3_Silent_p.V729V NM_031220.3 NP_112497.2 GGACAACATCCACTGCACCCG 0.592000 3 14 0.00909568 0.00970762 0.009096 1 0 TNS3 64759 broad.mit.edu 37 7 47384613 47384613 + Missense_Mutation SNP C C G TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr7:47384613C>G ENST00000398879.1 - 19 2841 c.2475G>C c.(2473-2475)caG>caC p.Q825H TNS3_ENST00000355730.3_Missense_Mutation_p.Q585H|TNS3_ENST00000311160.9_Missense_Mutation_p.Q825H Q68CZ2 TENS3_HUMAN tensin 3 825 focal adhesion protein binding p.Q825H(1) NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 64 TATCGAGGTCCTGGGGATAGC 0.488000 12 32 0 0 0.010729 0 0 KIAA1958 158405 broad.mit.edu 37 9 115337206 115337206 + Silent SNP G G A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr9:115337206G>A ENST00000337530.6 + 2 1142 c.846G>A c.(844-846)caG>caA p.Q282Q KIAA1958_ENST00000374244.3_Silent_p.Q282Q|KIAA1958_ENST00000536272.1_Silent_p.Q282Q NM_133465.2 NP_597722.1 Q8N8K9 K1958_HUMAN KIAA1958 282 endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3) 25 CAATTGTCCAGAAGACTGCTA 0.542000 38 288 0 0 0.006999 0 0 ARHGAP30 257106 broad.mit.edu 37 1 161018084 161018084 + Silent SNP A A G TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr1:161018084A>G ENST00000368013.3 - 12 3047 c.2727T>C c.(2725-2727)tgT>tgC p.C909C ARHGAP30_ENST00000368015.1_Silent_p.C732C|ARHGAP30_ENST00000368016.3_Silent_p.C698C NM_001025598.1|NM_181720.2 NP_001020769.1|NP_859071.2 Q7Z6I6 RHG30_HUMAN Rho GTPase activating protein 30 909 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) AGGGGCATAGACAGCCGTCTG 0.617000 20 24 0 0 0.018920 0 0 PITPNM3 83394 broad.mit.edu 37 17 6367062 6367062 + Missense_Mutation SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr17:6367062C>A ENST00000262483.8 - 17 2383 c.2296G>T c.(2296-2298)Gat>Tat p.D766Y ACKR6_ENST00000576664.1_5'UTR|ACKR6_ENST00000421306.3_Missense_Mutation_p.D730Y NM_031220.3 NP_112497.2 CGGACAACATCCACTGCACCC 0.592000 3 16 0.00909568 0.00970762 0.009096 1 0 KLHL9 55958 broad.mit.edu 37 9 21334680 21334680 + Missense_Mutation SNP T T C rs140581276 TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr9:21334680T>C ENST00000359039.4 - 1 699 c.179A>G c.(178-180)gAt>gGt p.D60G KLHL9_ENST00000537938.1_Intron Q9P2J3 KLHL9_HUMAN kelch-like family member 9 60 BTB. cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex|midbody endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2) 32 Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118) GAAGATTTCATCTCCATCACC 0.423000 6 77 0 0 0.001168 0 0 SEMA3D 223117 broad.mit.edu 37 7 84751073 84751073 + Silent SNP G G T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr7:84751073G>T ENST00000284136.6 - 1 178 c.135C>A c.(133-135)ctC>ctA p.L45L SEMA3D_ENST00000444867.1_Silent_p.L45L NM_152754.2 NP_689967.2 O95025 SEM3D_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D 45 Sema. cell differentiation|nervous system development extracellular region|membrane receptor activity NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2) 73 AGGTTAGCTTGAGTCTTGGAA 0.303000 10 12 3.27435e-08 4.58935e-08 0.020292 1 0 VIT 5212 broad.mit.edu 37 2 36982178 36982178 + Missense_Mutation SNP A A T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr2:36982178A>T ENST00000379242.3 + 5 692 c.390A>T c.(388-390)agA>agT p.R130S VIT_ENST00000401530.1_Missense_Mutation_p.R130S|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000457137.2_Missense_Mutation_p.R130S|VIT_ENST00000379241.3_Missense_Mutation_p.R130S|VIT_ENST00000404084.1_Missense_Mutation_p.R108S|VIT_ENST00000389975.3_Missense_Mutation_p.R130S NM_053276.3 NP_444506.2 Q6UXI7 VITRN_HUMAN vitrin 130 LCCL. proteinaceous extracellular matrix autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_hematologic(82;0.248) CACGATGGAGAGAATCCTTTA 0.438000 14 51 0 0 0.007413 0 0 MT-ND4 4538 broad.mit.edu 37 MT 11154 11154 + Missense_Mutation SNP T T C TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chrM:11154T>C ENST00000361381.2 + 1 395 c.395T>C c.(394-396)aTc>aCc p.132_132insT mitochondrially encoded NADH dehydrogenase 4 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1) 13 CACCTTGGCTATCATCACCCG 0.443000 638 213 0 0 0.014410 0 0 ANK1 286 broad.mit.edu 37 8 41547754 41547754 + Silent SNP G G T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr8:41547754G>T ENST00000396942.1 - 33 4178 c.4095C>A c.(4093-4095)ccC>ccA p.P1365P ANK1_ENST00000289734.7_Silent_p.P1365P|ANK1_ENST00000352337.4_Silent_p.P1365P|ANK1_ENST00000379758.2_Silent_p.P1365P|ANK1_ENST00000347528.4_Silent_p.P1365P|ANK1_ENST00000396945.1_Silent_p.P1365P|ANK1_ENST00000265709.8_Silent_p.P1406P P16157 ANK1_HUMAN ankyrin 1, erythrocytic 1365 axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) CCTTGGCGCAGGGGGGCATGG 0.637000 4 31 2.56e-06 3.2371e-06 0.009096 1 0 DAPK1 1612 broad.mit.edu 37 9 90321137 90321137 + Missense_Mutation SNP G G A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr9:90321137G>A ENST00000469640.2 + 27 3601 c.3226G>A c.(3226-3228)Gtg>Atg p.V1076M DAPK1_ENST00000472284.1_Missense_Mutation_p.V1051M|DAPK1_ENST00000408954.3_Missense_Mutation_p.V1051M|DAPK1_ENST00000358077.5_Missense_Mutation_p.V1051M|DAPK1_ENST00000491893.1_Missense_Mutation_p.V985M P53355 DAPK1_HUMAN death-associated protein kinase 1 1051 apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1) 72 GTTGCTGTCCGTGGAGACCCC 0.642000 Chronic Lymphocytic Leukemia, Familial Clustering of 3 28 0 0 0.004672 0 0 MAGEC1 9947 broad.mit.edu 37 X 140995525 140995525 + Missense_Mutation SNP G G T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chrX:140995525G>T ENST00000285879.4 + 4 2621 c.2335G>T c.(2335-2337)Gtc>Ttc p.V779F MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 779 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) CCAGAGACCTGTCAGCTCCTT 0.557000 HNSCC(15;0.026) 6 199 2.0095e-06 2.55024e-06 0.001984 1 0 SORCS1 114815 broad.mit.edu 37 10 108459151 108459151 + Splice_Site SNP C C G TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr10:108459151C>G ENST00000263054.6 - 9 1241 c.1233_splice c.e9-1 p.D412_splice SORCS1_ENST00000344440.6_Splice_Site_p.D412_splice NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 412 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) ACATGCATGTCCTGTGAAAAG 0.453000 10 26 0 0 0.008291 0 0 NAT6 24142 broad.mit.edu 37 3 50334635 50334635 + Missense_Mutation SNP C C T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr3:50334635C>T ENST00000443842.1 - 2 1067 c.260G>A c.(259-261)cGc>cAc p.R87H HYAL3_ENST00000513170.1_Intron|HYAL3_ENST00000359051.3_Intron|HYAL3_ENST00000336307.1_Intron|NAT6_ENST00000417393.1_Missense_Mutation_p.R87H|HYAL3_ENST00000450982.1_Intron|NAT6_ENST00000354862.4_Missense_Mutation_p.R109H|NAT6_ENST00000443094.2_Missense_Mutation_p.R87H|HYAL3_ENST00000415204.1_Intron N-acetyltransferase 6 (GCN5-related) endometrium(3)|lung(1)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) GCGGGAGGTGCGGCTGCGGGG 0.647000 6 6 0 0 0.004482 0 0 INTU 27152 broad.mit.edu 37 4 128565196 128565196 + Missense_Mutation SNP G G T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr4:128565196G>T ENST00000335251.5 + 2 770 c.667G>T c.(667-669)Ggt>Tgt p.G223C INTU_ENST00000296461.5_Missense_Mutation_p.G223C NM_015693.3 NP_056508.2 Q9ULD6 PDZD6_HUMAN inturned planar cell polarity protein 223 PDZ. breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 43 TATGAAGAGCGGTCAGGTACT 0.483000 25 39 8.24728e-16 1.43915e-15 0.004656 1 0 RRS1 23212 broad.mit.edu 37 8 67341476 67341476 + Missense_Mutation SNP G G A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr8:67341476G>A ENST00000320270.2 + 1 214 c.110G>A c.(109-111)gGc>gAc p.G37D NM_015169.3 NP_055984.1 Q15050 RRS1_HUMAN RRS1 ribosome biogenesis regulator homolog (S. cerevisiae) 37 mitotic metaphase plate congression|ribosome biogenesis condensed nuclear chromosome|nucleolus kidney(2)|lung(2) 4 Lung NSC(129;0.197) Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226) TTTGACCTGGGCAACCTGCTG 0.677000 OREG0018806 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 7 0 0 0.004672 0 0 HTR3A 3359 broad.mit.edu 37 11 113857446 113857446 + Silent SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr11:113857446C>A ENST00000504030.2 + 7 1357 c.912C>A c.(910-912)ctC>ctA p.L304L HTR3A_ENST00000355556.2_Silent_p.L310L|HTR3A_ENST00000506841.2_Silent_p.L304L|HTR3A_ENST00000535865.1_Silent_p.L48L|HTR3A_ENST00000375498.2_Silent_p.L310L|HTR3A_ENST00000299961.5_Silent_p.L289L P46098 5HT3A_HUMAN 5-hydroxytryptamine (serotonin) receptor 3A, ionotropic 304 digestion|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 36 all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191) Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199) GCACTCCTCTCATTGGTAAGG 0.602000 12 41 3.07112e-06 3.86939e-06 0.010729 1 0 DNASE2B 58511 broad.mit.edu 37 1 84864322 84864322 + Silent SNP G G T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr1:84864322G>T ENST00000370665.3 + 1 108 c.75G>T c.(73-75)ctG>ctT p.L25L NM_021233.2 NP_067056.2 Q8WZ79 DNS2B_HUMAN deoxyribonuclease II beta 25 DNA metabolic process lysosome deoxyribonuclease II activity endometrium(1)|lung(4)|skin(1) 6 all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808) TTGGGGTGCTGGGGGCAGCAA 0.463000 12 110 2.27111e-07 3.04853e-07 0.013537 1 0 ARHGAP17 55114 broad.mit.edu 37 16 24953364 24953364 + Missense_Mutation SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr16:24953364C>A ENST00000289968.6 - 16 1503 c.1434G>T c.(1432-1434)gaG>gaT p.E478D ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.E478D NM_001006634.1 NP_001006635.1 Q68EM7 RHG17_HUMAN Rho GTPase activating protein 17 478 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|tight junction GTPase activator activity|SH3 domain binding breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2) 30 GBM - Glioblastoma multiforme(48;0.0407) GCCGCTTCCTCTCCAGGGTCC 0.483000 27 73 1.49673e-21 2.72062e-21 0.006230 1 0 SI 6476 broad.mit.edu 37 3 164735438 164735438 + Silent SNP T T G TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr3:164735438T>G ENST00000264382.3 - 31 3719 c.3657A>C c.(3655-3657)ccA>ccC p.P1219P NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1219 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) CCCAATAAGCTGGCATGACTG 0.333000 HNSCC(35;0.089) 4 9 0 0 0.014758 0 0 FLT1 2321 broad.mit.edu 37 13 28895700 28895700 + Missense_Mutation SNP G G C TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr13:28895700G>C ENST00000282397.4 - 23 3325 c.3074C>G c.(3073-3075)gCg>gGg p.A1025G FLT1_ENST00000540678.1_Missense_Mutation_p.A243G|FLT1_ENST00000543394.1_Missense_Mutation_p.A48G NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 1025 Protein kinase. cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity p.A1025E(1) NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) AATGTTTCTCGCTGCCAGGTC 0.388000 14 52 0 0 0.003163 0 0 CENPJ 55835 broad.mit.edu 37 13 25459510 25459510 + Missense_Mutation SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr13:25459510C>A ENST00000381884.4 - 13 3566 c.3381G>T c.(3379-3381)agG>agT p.R1127S CENPJ_ENST00000545981.1_3'UTR|CENPJ_ENST00000493190.1_5'UTR NM_018451.4 NP_060921.3 Q9HC77 CENPJ_HUMAN centromere protein J 1127 cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization centriole|cytosol|gamma-tubulin small complex|microtubule protein domain specific binding|tubulin binding endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139) CAAGTGGCTCCCTGGGAGAGG 0.448000 7 35 0.00198382 0.00217721 0.001984 1 0 PCDHA7 56141 broad.mit.edu 37 5 140215571 140215571 + Missense_Mutation SNP G G A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr5:140215571G>A ENST00000525929.1 + 1 1603 c.1603G>A c.(1603-1605)Gtg>Atg p.V535M PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.V535M|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCAGTTCCAGGTGAGCGCGCG 0.687000 7 36 0 0 0.016723 0 0 PCDHGA8 9708 broad.mit.edu 37 5 140773370 140773370 + Missense_Mutation SNP G G T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr5:140773370G>T ENST00000398604.2 + 1 990 c.990G>T c.(988-990)agG>agT p.R330S PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron NM_032088.1 NP_114477.1 endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCTGGGGAGGACCAAATTGC 0.393000 15 74 1.33834e-09 2.01327e-09 0.007413 1 0 TENM4 26011 broad.mit.edu 37 11 78381153 78381153 + Silent SNP G G A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr11:78381153G>A ENST00000278550.7 - 32 6699 c.6237C>T c.(6235-6237)gcC>gcT p.A2079A NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 AGTCAAAACGGGCGTTGACCA 0.532000 7 19 0 0 0.003080 0 0 GLE1 2733 broad.mit.edu 37 9 131285001 131285001 + Missense_Mutation SNP G G C TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr9:131285001G>C ENST00000309971.4 + 4 593 c.487G>C c.(487-489)Gag>Cag p.E163Q GLE1_ENST00000372770.4_Missense_Mutation_p.E163Q|GLE1_ENST00000539582.1_Intron NM_001003722.1 NP_001003722.1 Q53GS7 GLE1_HUMAN GLE1 RNA export mediator 163 poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport cytoplasm|nuclear pore protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1) 16 AGCCCTCTCGGAGATGGCATC 0.448000 4 27 0 0 0.014758 0 0 ANGPT1 284 broad.mit.edu 37 8 108315503 108315503 + Missense_Mutation SNP T T A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr8:108315503T>A ENST00000520734.1 - 4 586 c.301A>T c.(301-303)Act>Tct p.T101S ANGPT1_ENST00000518386.1_Intron|ANGPT1_ENST00000520052.1_Missense_Mutation_p.T100S Q15389 ANGP1_HUMAN angiopoietin 1 301 activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway extracellular space|membrane raft|microvillus|plasma membrane receptor tyrosine kinase binding NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 43 Breast(1;5.06e-08) OV - Ovarian serous cystadenocarcinoma(57;5.53e-09) ATATAAATAGTGTAGATTCCA 0.343000 8 63 0 0 0.003080 0 0 CASQ2 845 broad.mit.edu 37 1 116260500 116260500 + Missense_Mutation SNP C C T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr1:116260500C>T ENST00000261448.5 - 8 1038 c.799G>A c.(799-801)Ggg>Agg p.G267R CASQ2_ENST00000456138.2_Missense_Mutation_p.G196R NM_001232.3 NP_001223.2 O14958 CASQ2_HUMAN calsequestrin 2 (cardiac muscle) 267 heart development|striated muscle contraction sarcoplasmic reticulum lumen calcium ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1) 18 Lung SC(450;0.211) all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) ATGTGGATCCCATTCAAATCA 0.463000 16 85 0 0 0.006122 0 0 FOXP4 116113 broad.mit.edu 37 6 41557832 41557832 + Silent SNP G G T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr6:41557832G>T ENST00000373060.1 + 11 1739 c.1281G>T c.(1279-1281)ctG>ctT p.L427L FOXP4_ENST00000409208.1_Silent_p.L415L|FOXP4_ENST00000307972.4_Silent_p.L427L|FOXP4_ENST00000373063.3_Silent_p.L414L|FOXP4_ENST00000373057.3_Silent_p.L425L NM_001012426.1|NM_001012427.1 NP_001012426.1|NP_001012427.1 Q8IVH2 FOXP4_HUMAN forkhead box P4 427 embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 16 Ovarian(28;0.0327)|Colorectal(47;0.196) CCCCTGGCCTGGGCTCTGCCT 0.682000 8 19 3.09899e-07 4.11234e-07 0.004482 1 0 VWA3B 200403 broad.mit.edu 37 2 98779317 98779317 + Missense_Mutation SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr2:98779317C>A ENST00000477737.1 + 8 1196 c.992C>A c.(991-993)gCt>gAt p.A331D VWA3B_ENST00000451075.2_Missense_Mutation_p.A181D|VWA3B_ENST00000435344.1_Missense_Mutation_p.A331D NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 331 NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 CTTTTAGGAGCTGGAGTCAGA 0.622000 6 20 2.7689e-08 3.89655e-08 0.001984 1 0 TMEM74 157753 broad.mit.edu 37 8 109797367 109797367 + Splice_Site SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr8:109797367C>A ENST00000297459.3 - 2 140 c.e2-1 TMEM74_ENST00000518838.1_Intron NM_153015.1 NP_694560.1 Q96NL1 TMM74_HUMAN transmembrane protein 74 autophagy autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(57;3.08e-10) TCCGGAAAGTCTGCCAATAGC 0.522000 24 8 1.64293e-13 2.76997e-13 0.018920 1 0 SAAL1 113174 broad.mit.edu 37 11 18105129 18105129 + Missense_Mutation SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr11:18105129C>A ENST00000524803.1 - 10 1241 c.1192G>T c.(1192-1194)Gat>Tat p.D398Y SAAL1_ENST00000529318.1_Missense_Mutation_p.D400Y|SAAL1_ENST00000300013.4_Missense_Mutation_p.D397Y Q96ER3 SAAL1_HUMAN serum amyloid A-like 1 398 acute-phase response extracellular region binding breast(2)|large_intestine(5)|lung(8) 15 CATAAAATATCCTTTAAGATT 0.338000 8 22 1.33987e-11 2.13523e-11 0.008291 1 0 LINC01410 103352539 broad.mit.edu 37 9 66466693 66466693 + RNA SNP G G A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr9:66466693G>A ENST00000424345.1 + 0 1326 tctataactcgcttggttaca 0.483000 3 3 0 0 0.004672 0 0 CEP128 145508 broad.mit.edu 37 14 81259422 81259422 + Missense_Mutation SNP T T A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr14:81259422T>A ENST00000555265.1 - 14 1617 c.1242A>T c.(1240-1242)aaA>aaT p.K414N CEP128_ENST00000281129.3_Missense_Mutation_p.K414N Q6ZU80 CE128_HUMAN centrosomal protein 128kDa 414 centriole|spindle pole NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 51 GCAGTTGCTGTTTTTCCCCAT 0.418000 6 49 0 0 0.001168 0 0 ZNF98 148198 broad.mit.edu 37 19 22574939 22574939 + Silent SNP A A T rs74170714 TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr19:22574939A>T ENST00000357774.5 - 4 1219 c.1098T>A c.(1096-1098)acT>acA p.T366T NM_001098626.1 NP_001092096.1 A6NK75 ZNF98_HUMAN zinc finger protein 98 366 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) TCTTATGTGTAGTAAGGTGGG 0.383000 3 12 0 0 0.001984 0 0 STAB2 55576 broad.mit.edu 37 12 104149122 104149122 + Silent SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr12:104149122C>A ENST00000388887.2 + 62 6961 c.6757C>A c.(6757-6759)Cgg>Agg p.R2253R RP11-341G23.4_ENST00000551299.1_RNA NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 2253 Link. R -> G (in Ref. 5; BAD18723). angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 GGAGACCGGGCGGGTTGCCTA 0.582000 15 40 1.67942e-08 2.39231e-08 0.006122 1 0 DUSP27 92235 broad.mit.edu 37 1 167097620 167097620 + Silent SNP C C T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr1:167097620C>T ENST00000361200.2 + 6 3418 c.3252C>T c.(3250-3252)gcC>gcT p.A1084A DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Silent_p.A1084A|DUSP27_ENST00000443333.1_Silent_p.A1084A Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 1084 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 AATTTGGAGCCAAGAGGAAGT 0.522000 6 62 0 0 0.001168 0 0 OR52J3 119679 broad.mit.edu 37 11 5068378 5068378 + Missense_Mutation SNP T T C TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr11:5068378T>C ENST00000380370.1 + 1 623 c.623T>C c.(622-624)tTt>tCt p.F208S NM_001001916.2 NP_001001916.2 Q8NH60 O52J3_HUMAN olfactory receptor, family 52, subfamily J, member 3 208 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2) 36 Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204) Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19) GTTTCTTTCTTTGTTCTGAAC 0.443000 42 84 0 0 0.009718 0 0 CENPJ 55835 broad.mit.edu 37 13 25459511 25459511 + Missense_Mutation SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr13:25459511C>A ENST00000381884.4 - 13 3565 c.3380G>T c.(3379-3381)aGg>aTg p.R1127M CENPJ_ENST00000545981.1_3'UTR|CENPJ_ENST00000493190.1_5'UTR NM_018451.4 NP_060921.3 Q9HC77 CENPJ_HUMAN centromere protein J 1127 cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization centriole|cytosol|gamma-tubulin small complex|microtubule protein domain specific binding|tubulin binding endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139) AAGTGGCTCCCTGGGAGAGGC 0.448000 7 35 0.00198382 0.00217721 0.001984 1 0 IGHV3-16 28447 broad.mit.edu 37 14 106622022 106622022 + RNA SNP T T C TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr14:106622022T>C ENST00000390604.2 - 0 296 TGCGTCCTACTGCCATTCCAA 0.537000 88 294 0 0 0.014410 0 0 ATRX 546 broad.mit.edu 37 X 76920135 76920135 + Splice_Site SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chrX:76920135C>A ENST00000373344.5 - 11 4156 c.3943_splice c.e11+1 p.E1314_splice ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Splice_Site_p.E1276_splice NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1314 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) GGAGCTCACCCTCATCTCCTG 0.383000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 16 40 9.16793e-09 1.32215e-08 0.004990 1 0 KCNH4 23415 broad.mit.edu 37 17 40321504 40321504 + Silent SNP G G A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr17:40321504G>A ENST00000264661.3 - 9 1913 c.1581C>T c.(1579-1581)gaC>gaT p.D527D KCNH4_ENST00000607371.1_Silent_p.D527D NM_012285.2 NP_036417.1 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 4 527 regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1) 32 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) CCTCGTTGGCGTCGATGCCGC 0.632000 4 23 0 0 0.001168 0 0 XIST 7503 broad.mit.edu 37 X 73053169 73053169 + RNA SNP T T C TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chrX:73053169T>C ENST00000429829.1 - 0 11476 NR_001564.2 GAGCCTCTTATAGCTGTTTGC 0.448000 6 33 0 0 0.001984 0 0 ZFR 51663 broad.mit.edu 37 5 32403291 32403291 + Missense_Mutation SNP C C T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr5:32403291C>T ENST00000265069.8 - 8 1538 c.1436G>A c.(1435-1437)aGc>aAc p.S479N NM_016107.3 NP_057191.2 Q96KR1 ZFR_HUMAN zinc finger RNA binding protein 479 multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2) 32 STAD - Stomach adenocarcinoma(35;0.19) GTTAGATGTGCTATTAAGAGA 0.398000 7 144 0 0 0.001984 0 0 CCER1 196477 broad.mit.edu 37 12 91347827 91347827 + Silent SNP G G A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr12:91347827G>A ENST00000358859.2 - 1 1126 c.693C>T c.(691-693)tcC>tcT p.S231S CCER1_ENST00000548187.1_Intron NM_152638.2 NP_689851.1 coiled-coil glutamate-rich protein 1 CGTCGTTTCCGGAGGATCTGG 0.637000 4 58 0 0 0.014758 0 0 IGHV2-5 28457 broad.mit.edu 37 14 106494256 106494256 + RNA SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr14:106494256C>A ENST00000390597.2 - 0 255 TGGGCTGTAGCGCTTATCATC 0.542000 11 32 4.68919e-08 6.54611e-08 0.008291 1 0 C18orf63 644041 broad.mit.edu 37 18 72021504 72021504 + Splice_Site SNP G G T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr18:72021504G>T ENST00000579455.1 + 12 2330 c.e12+1 NM_001174123.1 NP_001167594.1 Q68DL7 CR063_HUMAN chromosome 18 open reading frame 63 breast(1) 1 TAAGAAGCAGGTAAAAAAAAA 0.348000 8 14 1.12685e-05 1.39458e-05 0.004482 1 0 GLE1 2733 broad.mit.edu 37 9 131285584 131285584 + Missense_Mutation SNP G G A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr9:131285584G>A ENST00000309971.4 + 5 713 c.607G>A c.(607-609)Gag>Aag p.E203K GLE1_ENST00000372770.4_Missense_Mutation_p.E203K|GLE1_ENST00000539582.1_5'UTR NM_001003722.1 NP_001003722.1 Q53GS7 GLE1_HUMAN GLE1 RNA export mediator 203 poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport cytoplasm|nuclear pore protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1) 16 GGGACACCAAGAGAAGCTAAA 0.488000 7 86 0 0 0.003080 0 0 RALGAPA1 253959 broad.mit.edu 37 14 36219737 36219737 + Missense_Mutation SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr14:36219737C>A ENST00000258840.6 - 9 1352 c.962G>T c.(961-963)gGa>gTa p.G321V RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.G321V|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.G321V|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.G321V Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 (catalytic) 321 activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 AATATGAGGTCCTGTATGTGG 0.418000 3 17 0.000602214 0.000684602 0.014758 1 0 ATRX 546 broad.mit.edu 37 X 76854957 76854957 + Nonsense_Mutation SNP G G C TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chrX:76854957G>C ENST00000373344.5 - 25 6093 c.5879C>G c.(5878-5880)tCa>tGa p.S1960* ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.S1922* NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1960 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) CCGAGATCTTGAATTCCAGAC 0.383000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 12 301 0 0 0.016723 0 0 WDR19 57728 broad.mit.edu 37 4 39233832 39233832 + Silent SNP C C T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr4:39233832C>T ENST00000399820.3 + 19 2347 c.2193C>T c.(2191-2193)aaC>aaT p.N731N WDR19_ENST00000288634.7_Silent_p.N571N|WDR19_ENST00000515631.1_3'UTR NM_025132.3 NP_079408.3 Q8NEZ3 WDR19_HUMAN WD repeat domain 19 731 cell projection organization microtubule basal body|motile cilium|photoreceptor connecting cilium binding large_intestine(1) 1 TGTTTACCAACGATTATAACC 0.408000 11 177 0 0 0.016723 0 0 WAS 7454 broad.mit.edu 37 X 48549500 48549500 + Missense_Mutation SNP G G A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chrX:48549500G>A ENST00000376701.4 + 12 1531 c.1456G>A c.(1456-1458)Gaa>Aaa p.E486K NM_000377.2 NP_000368.1 P42768 WASP_HUMAN Wiskott-Aldrich syndrome 486 Asp/Glu-rich (acidic). blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway actin cytoskeleton|cytosol identical protein binding|small GTPase regulator activity p.E486K(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 28 all_lung(315;1.27e-10) CCCTCCAGACGAAGGGGAGGA 0.582000 """Mis, N, F, S""" lymphoma 4 30 0 0 0.014758 0 0 AIM2 9447 broad.mit.edu 37 1 159035705 159035705 + Nonsense_Mutation SNP G G A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr1:159035705G>A ENST00000368130.4 - 4 1099 c.811C>T c.(811-813)Cag>Tag p.Q271* AIM2_ENST00000481829.1_5'UTR NM_004833.1 NP_004824.1 O14862 AIM2_HUMAN absent in melanoma 2 271 HIN-200. cellular response to drug|immune response|interleukin-1 beta secretion mitochondrion|nucleus breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1) 16 all_hematologic(112;0.0429) CTTACCTTCTGGACTACAAAC 0.363000 29 41 0 0 0.006320 0 0 CYP2C8 1558 broad.mit.edu 37 10 96802716 96802716 + Silent SNP G G A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr10:96802716G>A ENST00000371270.3 - 7 1174 c.1080C>T c.(1078-1080)gaC>gaT p.D360D CYP2C8_ENST00000539050.1_Silent_p.D274D|CYP2C8_ENST00000535898.1_Silent_p.D258D NM_000770.3|NM_001198853.1|NM_001198855.1 NP_000761.3|NP_001185782.1|NP_001185784.1 P10632 CP2C8_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 8 360 exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3) 21 Colorectal(252;0.0397) all cancers(201;6.21e-05) Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198) TGGGGACAAGGTCACTGTATC 0.488000 40 70 0 0 0.007835 0 0 ZNF99 7652 broad.mit.edu 37 19 22939802 22939802 + Silent SNP T T A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr19:22939802T>A ENST00000397104.3 - 6 2528 c.2529A>T c.(2527-2529)tcA>tcT p.S843S zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TCCTAAGGGCTGAGAAATTGC 0.343000 13 31 0 0 0.016723 0 0 TTLL7 79739 broad.mit.edu 37 1 84373139 84373139 + Splice_Site SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr1:84373139C>A ENST00000260505.8 - 16 2369 c.1992_splice c.e16+1 p.V664_splice TTLL7_ENST00000477524.1_5'UTR NM_024686.4 NP_078962.4 Q6ZT98 TTLL7_HUMAN tubulin tyrosine ligase-like family, member 7 664 cell differentiation|nervous system development|protein modification process cilium|dendrite|microtubule basal body|perikaryon tubulin-tyrosine ligase activity kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16) GATGACCTACCACTTGAGAGT 0.493000 5 43 0.000602214 0.000684602 0.014758 1 0 HMGCLL1 54511 broad.mit.edu 37 6 55360313 55360313 + Missense_Mutation SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr6:55360313C>A ENST00000398661.2 - 8 920 c.789G>T c.(787-789)ttG>ttT p.L263F HMGCLL1_ENST00000308161.4_Missense_Mutation_p.L201F|HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.L233F|HMGCLL1_ENST00000370850.2_Missense_Mutation_p.L130F NM_019036.2 NP_061909.2 Q8TB92 HMGC2_HUMAN 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 263 hydroxymethylglutaryl-CoA lyase activity|metal ion binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 Lung NSC(77;0.0875) LUSC - Lung squamous cell carcinoma(124;0.23) TCACACTTTCCAACATTCTTT 0.443000 11 34 0.00829132 0.00893108 0.008291 1 0 STAT4 6775 broad.mit.edu 37 2 191926454 191926454 + Splice_Site SNP C C T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr2:191926454C>T ENST00000392320.2 - 10 1349 c.e10+1 STAT4_ENST00000358470.4_Splice_Site NM_003151.3 NP_003142.1 Q14765 STAT4_HUMAN signal transducer and activator of transcription 4 JAK-STAT cascade cytoplasm|nucleus calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204) TTTTTGCCTACCTTAGTTTTA 0.433000 6 312 0 0 0.001984 0 0 HTR1F 3355 broad.mit.edu 37 3 88040437 88040437 + Missense_Mutation SNP G G T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr3:88040437G>T ENST00000319595.4 + 1 592 c.538G>T c.(538-540)Gtt>Ttt p.V180F NM_000866.3 NP_000857.1 P30939 5HT1F_HUMAN 5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled 180 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane serotonin binding|serotonin receptor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(8;0.147) Lung NSC(201;0.0283) LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664) Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315) CGACCACATTGTTTCCACCAT 0.383000 14 18 1.15088e-07 1.58132e-07 0.004007 1 0 UNC93A 54346 broad.mit.edu 37 6 167711434 167711434 + Splice_Site SNP G G A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr6:167711434G>A ENST00000230256.3 + 4 676 c.499_splice c.e4-1 p.E167_splice UNC93A_ENST00000366829.2_Intron NM_018974.3 NP_061847.2 Q86WB7 UN93A_HUMAN unc-93 homolog A (C. elegans) 167 integral to membrane|plasma membrane breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 40 Breast(66;7.62e-05)|Ovarian(120;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) ACTTCATAGAGACCCTTCCAG 0.532000 4 6 0 0 0.014758 0 0 ITPR2 3709 broad.mit.edu 37 12 26636691 26636691 + Silent SNP C C G TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr12:26636691C>G ENST00000381340.3 - 42 6368 c.5952G>C c.(5950-5952)ctG>ctC p.L1984L NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 1984 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) TCTGGTTGACCAGCGCTACAT 0.473000 21 84 0 0 0.010504 0 0 PRDM9 56979 broad.mit.edu 37 5 23524602 23524602 + Silent SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr5:23524602C>A ENST00000296682.3 + 10 1292 c.1110C>A c.(1108-1110)ggC>ggA p.G370G NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 370 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 TCAAGTGGGGCAGCAAGTGGA 0.478000 HNSCC(3;0.000094) 8 47 5.50884e-06 6.89098e-06 0.013537 1 0 SEMA3E 9723 broad.mit.edu 37 7 82997074 82997074 + Missense_Mutation SNP T T C TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr7:82997074T>C ENST00000307792.3 - 17 2623 c.2156A>G c.(2155-2157)tAt>tGt p.Y719C SEMA3E_ENST00000427262.1_Missense_Mutation_p.Y659C NM_012431.2 NP_036563.1 O15041 SEM3E_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E 719 axon guidance extracellular space|membrane receptor activity breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 51 Medulloblastoma(109;0.109) GAAGTTGCTATAACCGATCAG 0.473000 43 124 0 0 0.009718 0 0 C1orf173 127254 broad.mit.edu 37 1 75038498 75038498 + Nonsense_Mutation SNP T T A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr1:75038498T>A ENST00000326665.5 - 14 3114 c.2896A>T c.(2896-2898)Aga>Tga p.R966* C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 966 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 CCGTCCTCTCTCTTTGATGCT 0.527000 37 98 0 0 0.019004 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3682056 3682056 + Silent SNP C C T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr20:3682056C>T ENST00000344754.4 - 6 1460 c.1461G>A c.(1459-1461)ggG>ggA p.G487G SIGLEC1_ENST00000202578.4_Silent_p.G487G NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 487 Ig-like C2-type 4. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 ACTTGTACTCCCCACTGTCAG 0.592000 4 14 0 0 0.014758 0 0 DNAH2 146754 broad.mit.edu 37 17 7667525 7667525 + Silent SNP T T C TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr17:7667525T>C ENST00000572933.1 + 20 4730 c.3270T>C c.(3268-3270)acT>acC p.T1090T DNAH2_ENST00000389173.2_Silent_p.T1090T Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 1090 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) ACGTGGAGACTCAGATCCCTC 0.562000 27 97 0 0 0.008361 0 0 TRHDE 29953 broad.mit.edu 37 12 72680615 72680615 + Missense_Mutation SNP G G C TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr12:72680615G>C ENST00000261180.4 + 2 1030 c.934G>C c.(934-936)Gag>Cag p.E312Q NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 312 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 TTCCGTGTTTGAGGAAGATGG 0.398000 6 62 0 0 0.001984 0 0 ROBO4 54538 broad.mit.edu 37 11 124756441 124756441 + Missense_Mutation SNP G G T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr11:124756441G>T ENST00000306534.3 - 16 3198 c.2713C>A c.(2713-2715)Cac>Aac p.H905N ROBO4_ENST00000533054.1_Missense_Mutation_p.H760N|RP11-664I21.5_ENST00000524453.1_RNA NM_019055.5 NP_061928.4 Q8WZ75 ROBO4_HUMAN roundabout, axon guidance receptor, homolog 4 (Drosophila) 905 angiogenesis|cell differentiation integral to membrane receptor activity NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3) 76 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) CGGGCAAAGTGAGCATCAGCG 0.602000 8 14 2.80697e-09 4.15099e-09 0.010729 1 0 MOV10L1 54456 broad.mit.edu 37 22 50563938 50563938 + Missense_Mutation SNP G G C TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr22:50563938G>C ENST00000262794.5 + 11 1770 c.1687G>C c.(1687-1689)Ggg>Cgg p.G563R MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Missense_Mutation_p.G563R|MOV10L1_ENST00000540615.1_Missense_Mutation_p.G543R|MOV10L1_ENST00000545383.1_Missense_Mutation_p.G563R NM_018995.2 NP_061868.1 Q9BXT6 M10L1_HUMAN Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) 563 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3) 67 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) AAGAAGGAATGGGGATCTGCT 0.483000 9 21 0 0 0.006214 0 0 PDCD11 22984 broad.mit.edu 37 10 105173785 105173785 + Silent SNP T T C TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr10:105173785T>C ENST00000369797.3 + 10 1342 c.1248T>C c.(1246-1248)acT>acC p.T416T NM_014976.1 NP_055791.1 Q14690 RRP5_HUMAN programmed cell death 11 416 S1 motif 4. mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) CAGGGAACACTCACAAGTGTA 0.463000 6 43 0 0 0.001168 0 0 TPTE 7179 broad.mit.edu 37 21 10970051 10970051 + Missense_Mutation SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr21:10970051C>A ENST00000298232.7 - 6 444 c.77G>T c.(76-78)aGt>aTt p.S26I TPTE_ENST00000361285.4_Missense_Mutation_p.S26I|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.S26I NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 26 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TTTAAATTCACTTGTCTGTGG 0.378000 15 165 3.57192e-18 6.36021e-18 0.006122 1 0 CETP 1071 broad.mit.edu 37 16 57012021 57012021 + Missense_Mutation SNP A A C TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr16:57012021A>C ENST00000200676.3 + 11 1130 c.1000A>C c.(1000-1002)Agc>Cgc p.S334R CETP_ENST00000379780.2_Missense_Mutation_p.S274R|CETP_ENST00000566128.1_Missense_Mutation_p.S269R NM_000078.2 NP_000069.2 P11597 CETP_HUMAN cholesteryl ester transfer protein, plasma 334 cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling high-density lipoprotein particle|vesicle cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3) 23 CGGCTTCCCCAGCCAGGCCCA 0.587000 6 20 0 0 0.001984 0 0 HAND1 9421 broad.mit.edu 37 5 153857468 153857468 + Missense_Mutation SNP C C T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr5:153857468C>T ENST00000231121.2 - 1 356 c.101G>A c.(100-102)cGc>cAc p.R34H NM_004821.2 NP_004812.1 O96004 HAND1_HUMAN heart and neural crest derivatives expressed 1 34 angiogenesis|cardiac left ventricle formation|cardiac right ventricle formation|cardiac septum morphogenesis|heart looping|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|trophectodermal cell differentiation|ventricular cardiac muscle tissue morphogenesis cytoplasm|nucleolus|nucleoplasm bHLH transcription factor binding|DNA binding|protein homodimerization activity|transcription coactivator activity endometrium(1)|kidney(1)|large_intestine(2)|lung(2) 6 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577) CTGATGACAGCGCGAGGCCGG 0.692000 6 29 0 0 0.001984 0 0 ZNF260 339324 broad.mit.edu 37 19 37005994 37005994 + Missense_Mutation SNP A A T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr19:37005994A>T ENST00000523638.1 - 3 1268 c.147T>A c.(145-147)caT>caA p.H49Q ZNF260_ENST00000593142.1_Missense_Mutation_p.H49Q|ZNF260_ENST00000592282.1_Missense_Mutation_p.H49Q|ZNF260_ENST00000588993.1_Missense_Mutation_p.H49Q NM_001166036.1|NM_001166037.1|NM_001166038.1 NP_001159508.1|NP_001159509.1|NP_001159510.1 Q3ZCT1 ZN260_HUMAN zinc finger protein 260 49 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8) 15 Esophageal squamous(110;0.162) TCTCTCCAGTATGCATTTTCT 0.378000 12 70 0 0 0.013537 0 0 ZNF165 7718 broad.mit.edu 37 6 28056534 28056534 + Silent SNP G G C TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr6:28056534G>C ENST00000377325.1 + 4 1300 c.744G>C c.(742-744)tcG>tcC p.S248S NM_003447.3 NP_003438.1 P49910 ZN165_HUMAN zinc finger protein 165 248 viral reproduction nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 AGAGACTCTCGTCTGCCCAGG 0.438000 35 93 0 0 0.015359 0 0 FLI1 2313 broad.mit.edu 37 11 128680587 128680587 + Nonsense_Mutation SNP A A T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr11:128680587A>T ENST00000344954.6 + 9 1352 c.964A>T c.(964-966)Aga>Tga p.R322* FLI1_ENST00000525560.1_Nonsense_Mutation_p.R162*|FLI1_ENST00000281428.8_Nonsense_Mutation_p.R289*|FLI1_ENST00000429175.2_Nonsense_Mutation_p.R355*|FLI1_ENST00000534087.1_Nonsense_Mutation_p.R322* Q01543 FLI1_HUMAN Fli-1 proto-oncogene, ETS transcription factor 355 hemostasis|organ morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity EWSR1/FLI1(2569) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2) 31 all_hematologic(175;0.0641) Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182) OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327) GCACGGCAAAAGATATGCTTA 0.488000 T EWSR1 Ewing sarcoma 17 47 0 0 0.006122 0 0 CECR6 27439 broad.mit.edu 37 22 17601064 17601064 + Missense_Mutation SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr22:17601064C>A ENST00000331437.3 - 1 1079 c.954G>T c.(952-954)tgG>tgT p.W318C CECR6_ENST00000399875.1_Intron NM_031890.3 NP_114096.1 Q9BXQ6 CECR6_HUMAN cat eye syndrome chromosome region, candidate 6 318 haematopoietic_and_lymphoid_tissue(1) 1 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) Colorectal(9;0.221) AGTAGATAAGCCAGGCCAGGT 0.731000 10 16 2.80697e-09 4.15099e-09 0.010729 1 0 TRBV6-1 28606 broad.mit.edu 37 7 142028511 142028511 + RNA SNP G G T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr7:142028511G>T ENST00000390353.2 + 0 302 GTCCCCAATGGCTACAATGTC 0.517000 63 141 2.02627e-32 3.74163e-32 0.014410 1 0 KMT2C 58508 broad.mit.edu 37 7 151856048 151856048 + Missense_Mutation SNP G G A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr7:151856048G>A ENST00000355193.2 - 44 11788 c.11570C>T c.(11569-11571)aCg>aTg p.T3857M KMT2C_ENST00000262189.6_Missense_Mutation_p.T3857M lysine (K)-specific methyltransferase 2C TTTCTCACCCGTCCTCTGAGT 0.478000 21 118 0 0 0.010504 0 0 TEX14 56155 broad.mit.edu 37 17 56638913 56638913 + Silent SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr17:56638913C>A ENST00000389934.3 - 30 4362 c.4245G>T c.(4243-4245)gtG>gtT p.V1415V TEX14_ENST00000584699.1_5'UTR|TEX14_ENST00000349033.5_Silent_p.V1375V|TEX14_ENST00000240361.8_Silent_p.V1421V NM_001201457.1|NM_198393.3 NP_001188386.1|NP_938207.2 Q8IWB6 TEX14_HUMAN testis expressed 14 1421 cytoplasm ATP binding|protein kinase activity breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 81 Medulloblastoma(34;0.127)|all_neural(34;0.237) CTTGTAGCTCCACGCTCTCCT 0.478000 11 93 0.000422831 0.000485422 0.004007 1 0 WDTC1 23038 broad.mit.edu 37 1 27624556 27624556 + Missense_Mutation SNP G G C TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr1:27624556G>C ENST00000319394.3 + 12 1721 c.1186G>C c.(1186-1188)Gcc>Ccc p.A396P WDTC1_ENST00000361771.3_Missense_Mutation_p.A395P NM_001276252.1|NM_015023.3 NP_001263181.1|NP_055838.2 Q8N5D0 WDTC1_HUMAN WD and tetratricopeptide repeats 1 396 protein binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1) 21 all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476) CCCTCACAATGCCATGCTTTA 0.567000 31 47 0 0 0.019004 0 0 MED24 9862 broad.mit.edu 37 17 38188962 38188962 + Silent SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr17:38188962C>A ENST00000394126.1 - 8 1369 c.951G>T c.(949-951)ggG>ggT p.G317G MED24_ENST00000356271.3_Silent_p.G279G|MED24_ENST00000501516.3_Silent_p.G311G|MED24_ENST00000394128.2_Silent_p.G292G|MED24_ENST00000394127.2_Silent_p.G279G O75448 MED24_HUMAN mediator complex subunit 24 292 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 41 Colorectal(19;0.000442) ACTCAATGAGCCCCACGAAGC 0.572000 19 43 1.55795e-14 2.65231e-14 0.012319 1 0 VGLL3 389136 broad.mit.edu 37 3 87018027 87018027 + Missense_Mutation SNP G G C TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr3:87018027G>C ENST00000398399.2 - 3 1013 c.650C>G c.(649-651)cCa>cGa p.P217R VGLL3_ENST00000383698.3_Missense_Mutation_p.P217R NM_016206.2 NP_057290.2 A8MV65 VGLL3_HUMAN vestigial like 3 (Drosophila) 217 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11) 19 all_cancers(8;0.109)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) GCTGTAGGATGGGCTCACCTG 0.607000 19 55 0 0 0.008871 0 0 OR1A2 26189 broad.mit.edu 37 17 3101421 3101421 + Silent SNP C C T rs150553361 byFrequency TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr17:3101421C>T ENST00000381951.1 + 1 609 c.609C>T c.(607-609)gtC>gtT p.V203V NM_012352.1 NP_036484.1 Q9Y585 OR1A2_HUMAN olfactory receptor, family 1, subfamily A, member 2 203 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2) 18 ACCTAGGGGTCGGCGTTTTCT 0.433000 34 135 0 0 0.019004 0 0 HSPG2 3339 broad.mit.edu 37 1 22157749 22157749 + Missense_Mutation SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr1:22157749C>A ENST00000374695.3 - 84 11600 c.11521G>T c.(11521-11523)Ggc>Tgc p.G3841C NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 3841 Laminin G-like 1. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) TGGGAGATGCCGTGCGCCGTG 0.682000 12 37 2.27111e-07 3.04853e-07 0.013537 1 0 OR14K1 343170 broad.mit.edu 37 1 247902089 247902089 + Missense_Mutation SNP A A G TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr1:247902089A>G ENST00000283225.2 + 1 173 c.173A>G c.(172-174)tAc>tGc p.Y58C RP11-634B7.4_ENST00000449298.1_RNA olfactory receptor, family 14, subfamily K, member 1 NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1) 27 ATGGCAATGTACTTTTTCCTC 0.478000 38 86 0 0 0.007835 0 0 GPR112 139378 broad.mit.edu 37 X 135429739 135429739 + Missense_Mutation SNP C C T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chrX:135429739C>T ENST00000394143.1 + 6 4165 c.3874C>T c.(3874-3876)Cca>Tca p.P1292S GPR112_ENST00000412101.1_Missense_Mutation_p.P1087S|GPR112_ENST00000287534.4_Missense_Mutation_p.P1229S|GPR112_ENST00000394141.1_Missense_Mutation_p.P1087S|GPR112_ENST00000370652.1_Missense_Mutation_p.P1292S NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1292 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) CCGGGGTACTCCATCTTTGGA 0.443000 37 59 0 0 0.017118 0 0 GJB4 127534 broad.mit.edu 37 1 35226896 35226896 + Missense_Mutation SNP A A G TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr1:35226896A>G ENST00000339480.1 + 2 411 c.41A>G c.(40-42)aAc>aGc p.N14S NM_153212.2 NP_694944.1 Q9NTQ9 CXB4_HUMAN gap junction protein, beta 4, 30.3kDa 14 cell communication connexon complex|integral to membrane gap junction channel activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1) 16 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) AGTGGCGTGAACAAGTACTCC 0.587000 5 69 0 0 0.014758 0 0 CAMKV 79012 broad.mit.edu 37 3 49897636 49897636 + Missense_Mutation SNP T T A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr3:49897636T>A ENST00000477224.1 - 10 1388 c.910A>T c.(910-912)Att>Ttt p.I304F CAMKV_ENST00000463537.1_Missense_Mutation_p.I304F|CAMKV_ENST00000296471.7_Missense_Mutation_p.I276F|CAMKV_ENST00000467248.1_Missense_Mutation_p.I229F|CAMKV_ENST00000466940.1_Missense_Mutation_p.I261F|CAMKV_ENST00000488336.1_Missense_Mutation_p.I304F Q8NCB2 CAMKV_HUMAN CaM kinase-like vesicle-associated 304 cytoplasmic vesicle membrane|plasma membrane ATP binding|protein serine/threonine kinase activity central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2) 7 BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) TTCTTTTCAATCTGGGCACAG 0.473000 7 20 0 0 0.001984 0 0 OR5M1 390168 broad.mit.edu 37 11 56380754 56380754 + Silent SNP G G A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr11:56380754G>A ENST00000526538.1 - 1 224 c.225C>T c.(223-225)tcC>tcT p.S75S NM_001004740.1 NP_001004740.1 Q8NGP8 OR5M1_HUMAN olfactory receptor, family 5, subfamily M, member 1 75 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1) 12 GAGTAACATTGGAAGAATAGC 0.468000 37 114 0 0 0.005524 0 0 ITGAE 3682 broad.mit.edu 37 17 3649219 3649219 + Missense_Mutation SNP G G T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr17:3649219G>T ENST00000263087.4 - 18 2256 c.2158C>A c.(2158-2160)Ctc>Atc p.L720I NM_002208.4 NP_002199.3 P38570 ITAE_HUMAN integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) 720 cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 UCEC - Uterine corpus endometrioid carcinoma (3;0.0813) GCCTCGCGGAGGCCTGGGAAT 0.612000 10 48 7.03913e-09 1.01936e-08 0.013537 1 0 OR5M11 219487 broad.mit.edu 37 11 56310370 56310370 + Missense_Mutation SNP A A G TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr11:56310370A>G ENST00000528616.2 - 1 387 c.364T>C c.(364-366)Tat>Cat p.Y122H NM_001005245.1 NP_001005245.1 Q96RB7 OR5MB_HUMAN olfactory receptor, family 5, subfamily M, member 11 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14) 18 ATGGCCACATAGCGGTCATAG 0.473000 5 48 0 0 0.001168 0 0 FAM83C 128876 broad.mit.edu 37 20 33874426 33874426 + Missense_Mutation SNP C C T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr20:33874426C>T ENST00000374408.3 - 4 2252 c.2156G>A c.(2155-2157)cGg>cAg p.R719Q NM_178468.5 NP_848563.1 Q9BQN1 FA83C_HUMAN family with sequence similarity 83, member C 719 central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(18;0.00252) CAGGGTCAGCCGTTTCTCATC 0.557000 5 76 0 0 0.001168 0 0 RP1L1 94137 broad.mit.edu 37 8 10469930 10469930 + Missense_Mutation SNP T T A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr8:10469930T>A ENST00000382483.3 - 4 1901 c.1678A>T c.(1678-1680)Agg>Tgg p.R560W NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 560 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) GTCTCGGCCCTTGCCTTGCCT 0.647000 5 8 0 0 0.001168 0 0 PIK3C3 5289 broad.mit.edu 37 18 39623730 39623730 + Missense_Mutation SNP G G T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr18:39623730G>T ENST00000262039.4 + 20 2223 c.2137G>T c.(2137-2139)Ggg>Tgg p.G713W PIK3C3_ENST00000398870.3_Missense_Mutation_p.G650W|PIK3C3_ENST00000587402.1_Missense_Mutation_p.G60W|PIK3C3_ENST00000589056.1_Missense_Mutation_p.G60W|PIK3C3_ENST00000593098.1_Missense_Mutation_p.G198W NM_002647.2 NP_002638.2 Q8NEB9 PK3C3_HUMAN phosphatidylinositol 3-kinase, catalytic subunit type 3 713 PI3K/PI4K. cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway midbody|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1) 49 AAGTGAGAATGGGCCAAATGG 0.338000 TSP Lung(28;0.18) 15 48 6.94344e-10 1.05359e-09 0.006122 1 0 GLYATL1 92292 broad.mit.edu 37 11 58722740 58722740 + Silent SNP G G A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr11:58722740G>A ENST00000300079.5 + 6 548 c.498G>A c.(496-498)acG>acA p.T166T RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000317391.4_Silent_p.T135T NM_001220496.1|NM_080661.3 NP_001207425.1|NP_542392.2 Q969I3 GLYL1_HUMAN glycine-N-acyltransferase-like 1 135 mitochondrion glycine N-acyltransferase activity NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1) 34 Glycine(DB00145) TCTTGGTTACGGAAGATATTC 0.443000 26 72 0 0 0.018920 0 0 LINC01410 103352539 broad.mit.edu 37 9 66459813 66459813 + RNA SNP G G A rs10752517 by1000genomes TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr9:66459813G>A ENST00000424345.1 + 0 73 tccaggatttgtccccagtgc 0.343000 4 21 0 0 0.009096 0 0 GYS2 2998 broad.mit.edu 37 12 21757474 21757474 + Missense_Mutation SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr12:21757474C>A ENST00000261195.2 - 1 307 c.53G>T c.(52-54)tGg>tTg p.W18L NM_021957.3 NP_068776.2 P54840 GYS2_HUMAN glycogen synthase 2 (liver) 18 glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 TTCGACTTCCCACTGGGGAAG 0.483000 24 36 5.35356e-11 8.49269e-11 0.016522 1 0 RYR2 6262 broad.mit.edu 37 1 237872294 237872294 + Silent SNP G G T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr1:237872294G>T ENST00000366574.2 + 69 10355 c.10038G>T c.(10036-10038)ggG>ggT p.G3346G RYR2_ENST00000360064.6_Silent_p.G3344G|RYR2_ENST00000542537.1_Silent_p.G3330G NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 3346 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AGGCCAGGGGGGACATGTCGG 0.483000 19 30 1.01871e-10 1.59431e-10 0.008871 1 0 CEP112 201134 broad.mit.edu 37 17 64171266 64171266 + Missense_Mutation SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr17:64171266C>A ENST00000392769.2 - 4 584 c.366G>T c.(364-366)tgG>tgT p.W122C CEP112_ENST00000537949.1_Missense_Mutation_p.W122C|CEP112_ENST00000535342.2_Missense_Mutation_p.W122C NM_145036.3 NP_659473.2 Q8N8E3 CE112_HUMAN centrosomal protein 112kDa 122 centrosome NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 28 CACCCAGTACCCAGGCTGGTA 0.388000 8 51 5.68852e-11 8.98324e-11 0.004482 1 0 LILRB2 10288 broad.mit.edu 37 19 54778643 54778643 + Missense_Mutation SNP T T A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr19:54778643T>A ENST00000391748.1 - 14 1815 c.1688A>T c.(1687-1689)cAg>cTg p.Q563L LILRB2_ENST00000434421.1_Missense_Mutation_p.Q448L|LILRB2_ENST00000391746.1_3'UTR|LILRB2_ENST00000314446.5_Missense_Mutation_p.Q563L|LILRB2_ENST00000391749.4_Missense_Mutation_p.Q564L NM_001278403.1 NP_001265332.1 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 564 cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 44 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GCTGTGCAGCTGGGCGTAGGT 0.652000 9 43 0 0 0.010729 0 0 TRHDE 29953 broad.mit.edu 37 12 73012754 73012754 + Missense_Mutation SNP C C T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr12:73012754C>T ENST00000261180.4 + 13 2366 c.2270C>T c.(2269-2271)gCc>gTc p.A757V NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 757 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 TGGCATGCTGCCAGCCGAGCT 0.358000 8 22 0 0 0.010729 0 0 FGD3 89846 broad.mit.edu 37 9 95768376 95768376 + Missense_Mutation SNP G G A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr9:95768376G>A ENST00000375482.3 + 6 1247 c.751G>A c.(751-753)Gtc>Atc p.V251I FGD3_ENST00000337352.6_Missense_Mutation_p.V251I|FGD3_ENST00000416701.2_Missense_Mutation_p.V251I NM_001083536.1 NP_001077005.1 Q5JSP0 FGD3_HUMAN FYVE, RhoGEF and PH domain containing 3 251 DH. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1) 17 CGGCGAGTATGTCAAGAACTT 0.557000 4 36 0 0 0.009096 0 0 ALK 238 broad.mit.edu 37 2 29917779 29917779 + Nonsense_Mutation SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr2:29917779C>A ENST00000389048.3 - 3 1795 c.889G>T c.(889-891)Gag>Tag p.E297* ALK_ENST00000431873.1_Intron NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 297 MAM 1. 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) TGGGAGGCCTCCTCGGAGGGG 0.617000 """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 27 66 5.90632e-09 8.58878e-09 0.012213 1 0 TMEM145 284339 broad.mit.edu 37 19 42827827 42827827 + Silent SNP G G T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr19:42827827G>T ENST00000301204.3 + 14 1328 c.1287G>T c.(1285-1287)ggG>ggT p.G429G NM_173633.2 NP_775904.2 Q8NBT3 TM145_HUMAN transmembrane protein 145 429 integral to membrane breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 27 Prostate(69;0.00682) GACCCGGAGGGAGCCAATCCG 0.622000 9 29 5.4927e-09 8.02073e-09 0.004482 1 0 ITPR2 3709 broad.mit.edu 37 12 26572062 26572062 + Missense_Mutation SNP T T C TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr12:26572062T>C ENST00000381340.3 - 50 7446 c.7030A>G c.(7030-7032)Atg>Gtg p.M2344V RP11-513G19.1_ENST00000535324.1_RNA NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 2344 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) AGAAAGGCCATATCCAGGATG 0.458000 10 39 0 0 0.010729 0 0 RPL7L1 285855 broad.mit.edu 37 6 42847687 42847687 + Missense_Mutation SNP A A T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr6:42847687A>T ENST00000493763.1 + 1 315 c.12A>T c.(10-12)caA>caT p.Q4H RPL7L1_ENST00000424341.2_Missense_Mutation_p.Q4H|RPL7L1_ENST00000602561.1_Missense_Mutation_p.Q4H|RPL7L1_ENST00000397415.3_3'UTR|RPL7L1_ENST00000304734.5_Missense_Mutation_p.Q4H NM_198486.2 NP_940888.2 Q6DKI1 RL7L_HUMAN ribosomal protein L7-like 1 4 translation large ribosomal subunit protein binding|structural constituent of ribosome breast(1)|endometrium(1)|large_intestine(1)|lung(3) 6 Colorectal(47;0.196) Colorectal(64;0.00237)|all cancers(41;0.00288)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.088) TGGCGGAGCAAGAGTGAGTGT 0.532000 8 38 0 0 0.004482 0 0 TPR 7175 broad.mit.edu 37 1 186326650 186326650 + Nonsense_Mutation SNP G G A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr1:186326650G>A ENST00000367478.3 - 14 1899 c.1603C>T c.(1603-1605)Cag>Tag p.Q535* TPR_ENST00000474852.1_5'UTR NM_003292.2 NP_003283.2 P12270 TPR_HUMAN translocated promoter region, nuclear basket protein 535 carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8) 123 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) ACTAGATGCTGTGATATTACC 0.403000 T NTRK1 papillary thyroid 28 41 0 0 0.008361 0 0 TNFAIP8L3 388121 broad.mit.edu 37 15 51397204 51397204 + Missense_Mutation SNP A A T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr15:51397204A>T ENST00000327536.5 - 1 269 c.170T>A c.(169-171)cTt>cAt p.L57H RP11-108K3.1_ENST00000559909.1_lincRNA NM_207381.2 NP_997264.2 Q5GJ75 TP8L3_HUMAN tumor necrosis factor, alpha-induced protein 8-like 3 57 endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 11 all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338) GTGCTGACCAAGTCCCTTTCC 0.547000 12 119 0 0 0.013537 0 0 SIRPB2 284759 broad.mit.edu 37 20 1471924 1471924 + Missense_Mutation SNP A A T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr20:1471924A>T ENST00000359801.3 - 1 118 c.82T>A c.(82-84)Tca>Aca p.S28T SIRPB2_ENST00000537284.1_5'UTR|SIRPB2_ENST00000381630.1_Missense_Mutation_p.S28T|SIRPB2_ENST00000444444.1_Missense_Mutation_p.S28T NM_001122962.1 NP_001116434.1 Q5JXA9 SIRB2_HUMAN signal-regulatory protein beta 2 28 integral to membrane endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 CACTTACCTGAGGGGACAAGG 0.622000 5 18 0 0 0.014758 0 0 OR1J2 26740 broad.mit.edu 37 9 125274018 125274018 + Missense_Mutation SNP G G T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr9:125274018G>T ENST00000335302.5 + 1 938 c.938G>T c.(937-939)tGg>tTg p.W313L NM_054107.1 NP_473448.1 Q8NGS2 OR1J2_HUMAN olfactory receptor, family 1, subfamily J, member 2 313 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1) 26 TTTTTCTCTTGGTGACATCTG 0.373000 15 30 1.52009e-12 2.50241e-12 0.003163 1 0 ANXA5 308 broad.mit.edu 37 4 122604575 122604575 + Missense_Mutation SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr4:122604575C>A ENST00000296511.5 - 5 532 c.247G>T c.(247-249)Gct>Tct p.A83S ANXA5_ENST00000515017.1_Intron|ANXA5_ENST00000501272.2_Missense_Mutation_p.A23S|ANXA5_ENST00000509016.1_5'UTR NM_001154.3 NP_001145.1 P08758 ANXA5_HUMAN annexin A5 83 anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction cytoplasm calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1) 15 TTCATCAGAGCCACAATTAAT 0.353000 8 91 0.00307968 0.00335877 0.003080 1 0 SORCS1 114815 broad.mit.edu 37 10 108412234 108412234 + Missense_Mutation SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr10:108412234C>A ENST00000263054.6 - 18 2388 c.2381G>T c.(2380-2382)gGg>gTg p.G794V SORCS1_ENST00000369698.1_Missense_Mutation_p.G329V|SORCS1_ENST00000344440.6_Missense_Mutation_p.G794V NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 794 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) CGGGGCTTTCCCTGGGCACTT 0.517000 14 40 3.32936e-07 4.40131e-07 0.006122 1 0 RALGAPA1 253959 broad.mit.edu 37 14 36207850 36207850 + Missense_Mutation SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr14:36207850C>A ENST00000258840.6 - 12 1846 c.1456G>T c.(1456-1458)Ggg>Tgg p.G486W RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.G486W|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.G486W|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.G486W Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 (catalytic) 486 activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 GTATTGGTCCCATTTTCCTGA 0.378000 6 126 8.12818e-05 9.58357e-05 0.001984 1 0 OR2G6 391211 broad.mit.edu 37 1 248685578 248685578 + Missense_Mutation SNP G G A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr1:248685578G>A ENST00000343414.4 + 1 663 c.631G>A c.(631-633)Gtg>Atg p.V211M NM_001013355.1 NP_001013373.1 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, member 6 211 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AATTGTCCCGGTGTTACTCAT 0.483000 33 34 0 0 0.015359 0 0 SYPL2 284612 broad.mit.edu 37 1 110022016 110022016 + Missense_Mutation SNP A A G TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr1:110022016A>G ENST00000369872.3 + 6 881 c.665A>G c.(664-666)aAc>aGc p.N222S SYPL2_ENST00000401021.3_Missense_Mutation_p.N158S NM_001040709.1 NP_001035799.1 Q5VXT5 SYPL2_HUMAN synaptophysin-like 2 222 MARVEL. integral to membrane|synaptic vesicle transporter activity breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 16 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231) GGCTTTATCAACTTCTTCCTG 0.567000 5 120 0 0 0.001168 0 0 ERCC6 2074 broad.mit.edu 37 10 50668435 50668435 + Missense_Mutation SNP G G T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr10:50668435G>T ENST00000355832.5 - 20 4124 c.4046C>A c.(4045-4047)cCa>cAa p.P1349Q RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000465653.1_5'UTR|ERCC6_ENST00000542458.1_Missense_Mutation_p.P719Q NM_000124.2 NP_000115.1 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6 1349 base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 CTTCTCTGTTGGAGATGTTGA 0.373000 Direct reversal of damage;Nucleotide excision repair (NER) 14 41 4.36969e-10 6.71816e-10 0.016723 1 0 CDH6 1004 broad.mit.edu 37 5 31299735 31299735 + Missense_Mutation SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr5:31299735C>A ENST00000265071.2 + 5 1073 c.808C>A c.(808-810)Cag>Aag p.Q270K CDH6_ENST00000514738.1_Missense_Mutation_p.Q215K NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 270 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding p.Q270K(1) NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 CCGATTCCCCCAGAGTAGGAA 0.413000 12 31 6.42651e-13 1.07314e-12 0.010729 1 0 PMEPA1 56937 broad.mit.edu 37 20 56227579 56227579 + Missense_Mutation SNP G G A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr20:56227579G>A ENST00000341744.3 - 4 713 c.394C>T c.(394-396)Cgc>Tgc p.R132C PMEPA1_ENST00000347215.4_Missense_Mutation_p.R97C|PMEPA1_ENST00000395816.3_Missense_Mutation_p.R82C|PMEPA1_ENST00000265626.4_Missense_Mutation_p.R82C|PMEPA1_ENST00000395814.1_Missense_Mutation_p.R82C NM_020182.4 NP_064567.2 Q969W9 PMEPA_HUMAN prostate transmembrane protein, androgen induced 1 132 androgen receptor signaling pathway integral to membrane|plasma membrane WW domain binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1) 16 GGCTGGAAGCGGTGGAAGCGC 0.711000 7 18 0 0 0.004482 0 0 ARSF 416 broad.mit.edu 37 X 3028172 3028172 + Silent SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chrX:3028172C>A ENST00000381127.1 + 10 1490 c.1269C>A c.(1267-1269)gtC>gtA p.V423V ARSF_ENST00000359361.2_Silent_p.V423V|ARSF_ENST00000537104.1_Silent_p.V423V NM_001201538.1|NM_001201539.1 NP_001188467.1|NP_001188468.1 P54793 ARSF_HUMAN arylsulfatase F 423 extracellular region arylsulfatase activity|metal ion binding p.V423V(1) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 38 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TCTGCAGGGTCATTGACGGCC 0.557000 7 12 0.000157383 0.000183089 0.003080 1 0 NEK10 152110 broad.mit.edu 37 3 27161276 27161276 + Missense_Mutation SNP G G T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr3:27161276G>T ENST00000429845.2 - 36 3698 c.3336C>A c.(3334-3336)aaC>aaA p.N1112K NEK10_ENST00000383771.4_Missense_Mutation_p.N414K|NEK10_ENST00000383770.3_Missense_Mutation_p.N367K|NEK10_ENST00000295720.6_Missense_Mutation_p.N424K Q6ZWH5 NEK10_HUMAN NIMA-related kinase 10 1112 ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 GGGACAGGCTGTTTCCACCGG 0.398000 14 15 1.52009e-12 2.50241e-12 0.003163 1 0 PDE11A 50940 broad.mit.edu 37 2 178565928 178565928 + Missense_Mutation SNP G G T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr2:178565928G>T ENST00000286063.5 - 14 2482 c.2165C>A c.(2164-2166)gCc>gAc p.A722D PDE11A_ENST00000449286.2_Missense_Mutation_p.A364D|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000389683.3_Missense_Mutation_p.A278D|PDE11A_ENST00000409504.1_Missense_Mutation_p.A364D|AC012499.1_ENST00000412133.1_RNA|PDE11A_ENST00000358450.4_Missense_Mutation_p.A472D|AC012499.1_ENST00000450227.1_RNA NM_016953.3 NP_058649.3 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A 722 Catalytic (By similarity). platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding p.A472V(1)|p.A722V(1) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) TTGGGCCAGGGCAGAGCCACT 0.522000 Primary Pigmented Nodular Adrenocortical Disease, Familial 11 17 0.000673444 0.000763091 0.008291 1 0 MAGEL2 54551 broad.mit.edu 37 15 23890168 23890168 + Missense_Mutation SNP A A T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr15:23890168A>T ENST00000532292.1 - 1 1007 c.913T>A c.(913-915)Tgg>Agg p.W305R NM_019066.4 NP_061939.3 MAGE-like 2 breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) GGGCCCTGCCAGTCATGAAAG 0.632000 4 8 0 0 0.003080 0 0 ERCC6L2 375748 broad.mit.edu 37 9 98774917 98774917 + Missense_Mutation SNP G G T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr9:98774917G>T ENST00000407474.3 + 4 1541 c.1028G>T c.(1027-1029)aGt>aTt p.S343I Q5T890 RAD26_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2 78 DNA repair nucleus ATP binding|ATP-dependent helicase activity|DNA binding TCACCTGTTAGTTCTACTCAA 0.373000 14 22 4.3838e-07 5.75168e-07 0.016723 1 0 ALG1L 200810 broad.mit.edu 37 3 125651539 125651539 + Silent SNP A A C rs147593769 by1000genomes TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr3:125651539A>C ENST00000340333.3 - 3 277 c.114T>G c.(112-114)ctT>ctG p.L38L NM_001015050.2|NM_001195223.1 NP_001015050.2|NP_001182152.1 Q6GMV1 ALG1L_HUMAN ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like 38 transferase activity, transferring glycosyl groups large_intestine(2)|lung(2) 4 CATCAAGAGTAAGTTGTTCAA 0.423000 4 22 0 0 0.009096 0 0 CRHR2 1395 broad.mit.edu 37 7 30693187 30693187 + Silent SNP G G A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr7:30693187G>A ENST00000471646.1 - 12 1542 c.1125C>T c.(1123-1125)caC>caT p.H375H CRHR2_ENST00000341843.4_Silent_p.H361H|CRHR2_ENST00000348438.4_Silent_p.H402H|CRHR2_ENST00000506074.2_3'UTR NM_001202482.1|NM_001202483.1|NM_001883.4 NP_001189411.1|NP_001189412.1|NP_001874.2 Q13324 CRFR2_HUMAN corticotropin releasing hormone receptor 2 375 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CCTGCCAGCGGTGCCACCTCT 0.642000 6 63 0 0 0.001984 0 0 ANKRD44 91526 broad.mit.edu 37 2 197858365 197858365 + Missense_Mutation SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr2:197858365C>A ENST00000282272.8 - 26 2840 c.2841G>T c.(2839-2841)aaG>aaT p.K947N NM_001195144.1 NP_001182073.1 Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 955 protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.246) CAACTACCACCTTTAAGCCAT 0.463000 6 4 0.00116845 0.00130284 0.001168 1 0 ARRDC4 91947 broad.mit.edu 37 15 98509183 98509183 + Missense_Mutation SNP G G C TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr15:98509183G>C ENST00000268042.6 + 3 597 c.433G>C c.(433-435)Gtg>Ctg p.V145L ARRDC4_ENST00000538249.1_Missense_Mutation_p.V58L NM_183376.2 NP_899232.2 Q8NCT1 ARRD4_HUMAN arrestin domain containing 4 145 signal transduction breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3) 16 Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222) OV - Ovarian serous cystadenocarcinoma(32;0.0417) TGTGCGGGCAGTGTTGGAACG 0.433000 10 27 0 0 0.008291 0 0 EMILIN2 84034 broad.mit.edu 37 18 2891408 2891408 + Missense_Mutation SNP G G C TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr18:2891408G>C ENST00000254528.3 + 4 1442 c.1283G>C c.(1282-1284)gGa>gCa p.G428A NM_032048.2 NP_114437.2 Q9BXX0 EMIL2_HUMAN elastin microfibril interfacer 2 428 cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4) 48 READ - Rectum adenocarcinoma(2;0.1) ATGCTGAATGGAAGACTGGAC 0.443000 12 39 0 0 0.010729 0 0 TYR 7299 broad.mit.edu 37 11 88911387 88911387 + Missense_Mutation SNP G G T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr11:88911387G>T ENST00000263321.5 + 1 768 c.266G>T c.(265-267)tGc>tTc p.C89F TYR_ENST00000526139.1_3'UTR NM_000372.4 NP_000363.1 P14679 TYRO_HUMAN tyrosinase 89 C -> R (in OCA1A; dbSNP:rs28940877). eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033) Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157) AATAGGACCTGCCAGTGCTCT 0.502000 5 36 3.59834e-05 4.37568e-05 0.001168 1 0 SIGLEC6 946 broad.mit.edu 37 19 52033197 52033197 + Missense_Mutation SNP G G C TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr19:52033197G>C ENST00000346477.3 - 4 813 c.745C>G c.(745-747)Ctg>Gtg p.L249V SIGLEC6_ENST00000436458.1_Missense_Mutation_p.L213V|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.L276V|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.L265V|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.L265V|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.L254V NM_198845.4 NP_942142.3 O43699 SIGL6_HUMAN sialic acid binding Ig-like lectin 6 265 Ig-like C2-type 2. cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1) 28 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) TGGCCCTCCAGGACAGGGAGG 0.607000 7 27 0 0 0.006214 0 0 FLG 2312 broad.mit.edu 37 1 152282882 152282882 + Missense_Mutation SNP C C T rs147239265 byFrequency TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr1:152282882C>T ENST00000368799.1 - 3 4515 c.4480G>A c.(4480-4482)Ggg>Agg p.G1494R FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1494 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGCTTGACCCCGGGTGTCCA 0.582000 Ichthyosis 26 187 0 0 0.005443 0 0 UBE2E2 7325 broad.mit.edu 37 3 23574055 23574055 + Missense_Mutation SNP G G T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr3:23574055G>T ENST00000396703.1 + 5 551 c.371G>T c.(370-372)cGa>cTa p.R124L UBE2E2_ENST00000425792.1_Missense_Mutation_p.R124L NM_152653.3 NP_689866.1 Q96LR5 UB2E2_HUMAN ubiquitin-conjugating enzyme E2E 2 124 ISG15-protein conjugation|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination nucleolus ATP binding|ISG15 ligase activity|ubiquitin-protein ligase activity endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(2) 10 GTTACCTTCCGAACAAGAATC 0.318000 3 12 0.00024832 0.000286966 0.009096 1 0 EMP3 2014 broad.mit.edu 37 19 48830831 48830831 + Silent SNP G G T rs139549534 TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr19:48830831G>T ENST00000270221.6 + 3 433 c.132G>T c.(130-132)acG>acT p.T44T EMP3_ENST00000597279.1_Silent_p.T44T|EMP3_ENST00000596315.1_5'UTR NM_001425.2 NP_001416.1 P54852 EMP3_HUMAN epithelial membrane protein 3 44 cell growth|negative regulation of cell proliferation integral to membrane lung(1) 1 all_epithelial(76;6.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.00989)|Prostate(7;0.0143)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146) ACGACTGCACGTGGAACAACG 0.552000 8 31 1.08611e-07 1.49823e-07 0.010729 1 0 ZNF676 163223 broad.mit.edu 37 19 22363036 22363036 + Missense_Mutation SNP G G T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr19:22363036G>T ENST00000397121.2 - 3 1800 c.1483C>A c.(1483-1485)Cat>Aat p.H495N NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 495 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) ATTATCTTATGTTTAGTAAGG 0.378000 12 34 1.08611e-07 1.49823e-07 0.010729 1 0 OR4K13 390433 broad.mit.edu 37 14 20502530 20502530 + Missense_Mutation SNP G G A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr14:20502530G>A ENST00000315693.2 - 1 389 c.388C>T c.(388-390)Ctc>Ttc p.L130F NM_001004714.1 NP_001004714.1 Q8NH42 OR4KD_HUMAN olfactory receptor, family 4, subfamily K, member 13 130 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4) 24 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) ATGTAATGGAGGGGTTTGCAT 0.468000 24 88 0 0 0.004656 0 0 ATRNL1 26033 broad.mit.edu 37 10 117001379 117001379 + Missense_Mutation SNP G G T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr10:117001379G>T ENST00000355044.3 + 10 1678 c.1552G>T c.(1552-1554)Ggg>Tgg p.G518W NM_207303.2 NP_997186.1 Q5VV63 ATRN1_HUMAN attractin-like 1 518 integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) GAAAGAAAGTGGGTTTGCCAG 0.328000 7 14 2.0095e-06 2.55024e-06 0.001984 1 0 SPATA18 132671 broad.mit.edu 37 4 52938246 52938246 + Missense_Mutation SNP G G T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr4:52938246G>T ENST00000295213.4 + 6 1056 c.682G>T c.(682-684)Gat>Tat p.D228Y SPATA18_ENST00000506829.1_3'UTR|SPATA18_ENST00000419395.2_Missense_Mutation_p.D196Y NM_145263.2 NP_660306.1 Q8TC71 MIEAP_HUMAN spermatogenesis associated 18 228 mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus mitochondrial outer membrane protein binding breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204) AGCCATGTCCGATTATAAGAA 0.502000 33 77 2.51541e-25 4.59622e-25 0.021022 1 0 SIRT3 23410 broad.mit.edu 37 11 216720 216720 + Splice_Site SNP T T C TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr11:216720T>C ENST00000382743.4 - 7 1282 c.e7-2 SIRT3_ENST00000529382.1_Splice_Site|SIRT3_ENST00000525319.1_Splice_Site|SIRT3_ENST00000524564.1_Splice_Site|SIRT3_ENST00000532956.1_Splice_Site NM_001017524.2|NM_012239.5 NP_001017524.1|NP_036371.1 Q9NTG7 SIRT3_HUMAN sirtuin 3 chromatin silencing|protein ADP-ribosylation|protein deacetylation mitochondrial matrix hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding endometrium(1)|lung(5)|urinary_tract(1) 7 all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129) TCCATCAAGCTGGAATACAGA 0.463000 3 82 0 0 0.004672 0 0 ZNF91 7644 broad.mit.edu 37 19 23542621 23542621 + Nonsense_Mutation SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr19:23542621C>A ENST00000300619.7 - 4 3365 c.3160G>T c.(3160-3162)Gaa>Taa p.E1054* ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Nonsense_Mutation_p.E1022* NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 1054 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) TTGCCACATTCTTCACACTTG 0.358000 12 48 0.00010058 0.000117793 0.013537 1 0 OR52N1 79473 broad.mit.edu 37 11 5809704 5809704 + Missense_Mutation SNP C C T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr11:5809704C>T ENST00000317078.1 - 1 342 c.343G>A c.(343-345)Ggg>Agg p.G115R TRIM5_ENST00000380027.1_Intron NM_001001913.1 NP_001001913.1 Q8NH53 O52N1_HUMAN olfactory receptor, family 52, subfamily N, member 1 115 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3) 31 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) ATGAGCACCCCAGACTCCATC 0.493000 24 85 0 0 0.021523 0 0 ALLC 55821 broad.mit.edu 37 2 3743369 3743369 + Missense_Mutation SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr2:3743369C>A ENST00000252505.3 + 8 736 c.574C>A c.(574-576)Ccc>Acc p.P192T ALLC_ENST00000471711.1_3'UTR NM_018436.3 NP_060906.3 Q8N6M5 ALLC_HUMAN allantoicase 211 allantoicase activity breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 30 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088) all_cancers(51;0.24) OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206) TGCAACTGACCCCAAAGAACC 0.423000 HNSCC(21;0.051) 5 26 3.59834e-05 4.37568e-05 0.001168 1 0 LAMC1 3915 broad.mit.edu 37 1 183106849 183106849 + Missense_Mutation SNP G G T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr1:183106849G>T ENST00000258341.4 + 26 4617 c.4360G>T c.(4360-4362)Gtt>Ttt p.V1454F NM_002293.3 NP_002284.3 P11047 LAMC1_HUMAN laminin, gamma 1 (formerly LAMB2) 1454 Domain II and I. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 76 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TTTTGCAGAAGTTACAGATCT 0.383000 29 43 7.11191e-15 1.22269e-14 0.013726 1 0 SLC26A8 116369 broad.mit.edu 37 6 35911790 35911790 + Missense_Mutation SNP G G T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr6:35911790G>T ENST00000490799.1 - 20 3153 c.2800C>A c.(2800-2802)Ccg>Acg p.P934T SLC26A8_ENST00000394602.2_Missense_Mutation_p.P829T|SLC26A8_ENST00000355574.2_Missense_Mutation_p.P934T NM_052961.3 NP_443193.1 Q96RN1 S26A8_HUMAN solute carrier family 26 (anion exchanger), member 8 934 Interaction with RACGAP1. cell differentiation|meiosis|multicellular organismal development|spermatogenesis integral to membrane|plasma membrane anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 46 GCCATAGACGGATGATACATA 0.547000 5 171 8.12818e-05 9.58357e-05 0.001984 1 0 RYR2 6262 broad.mit.edu 37 1 237765336 237765336 + Silent SNP T T C TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr1:237765336T>C ENST00000366574.2 + 35 4925 c.4608T>C c.(4606-4608)agT>agC p.S1536S RYR2_ENST00000360064.6_Silent_p.S1534S|RYR2_ENST00000542537.1_Silent_p.S1520S NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1536 4 X approximate repeats.|B30.2/SPRY 3. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TGGAACCGAGTACAAAATTAT 0.308000 7 42 0 0 0.001984 0 0 SIK3 23387 broad.mit.edu 37 11 116747710 116747710 + Missense_Mutation SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr11:116747710C>A ENST00000375300.1 - 7 919 c.914G>T c.(913-915)cGc>cTc p.R305L SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000446921.2_Missense_Mutation_p.R305L|SIK3_ENST00000542607.1_Missense_Mutation_p.R247L|SIK3_ENST00000434315.2_Missense_Mutation_p.R146L|SIK3_ENST00000292055.4_Missense_Mutation_p.R247L Q9Y2K2 SIK3_HUMAN SIK family kinase 3 247 UBA. cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 57 CATGGAGAGGCGCTTATTGGG 0.552000 19 60 3.51602e-12 5.65479e-12 0.008871 1 0 INPP4B 8821 broad.mit.edu 37 4 143130048 143130048 + Splice_Site SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr4:143130048C>A ENST00000513000.1 - 14 1401 c.e14+1 INPP4B_ENST00000509777.1_Splice_Site|INPP4B_ENST00000308502.4_Splice_Site|INPP4B_ENST00000508116.1_Splice_Site|INPP4B_ENST00000262992.4_Splice_Site NM_003866.2 NP_003857.2 O15327 INP4B_HUMAN inositol polyphosphate-4-phosphatase, type II, 105kDa signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 all_hematologic(180;0.158) TGCTTCCACACCTGTTTCCTT 0.348000 10 36 6.40141e-05 7.651e-05 0.010729 1 0 KIAA1755 85449 broad.mit.edu 37 20 36870263 36870263 + Silent SNP G G T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr20:36870263G>T ENST00000279024.4 - 3 541 c.270C>A c.(268-270)gtC>gtA p.V90V NM_001029864.1 NP_001025035.1 Q5JYT7 K1755_HUMAN KIAA1755 90 breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1) 54 Myeloproliferative disorder(115;0.00874) GTGCCAAGTGGACCACAACTT 0.562000 16 123 6.94344e-10 1.05359e-09 0.006122 1 0 CRB1 23418 broad.mit.edu 37 1 197411417 197411417 + Missense_Mutation SNP G G C TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr1:197411417G>C ENST00000367400.3 + 11 4135 c.4000G>C c.(4000-4002)Gtg>Ctg p.V1334L CRB1_ENST00000367397.1_3'UTR|CRB1_ENST00000535699.1_Missense_Mutation_p.V1310L|CRB1_ENST00000544212.1_Missense_Mutation_p.V815L|CRB1_ENST00000367399.2_Missense_Mutation_p.V1222L|CRB1_ENST00000538660.1_Missense_Mutation_p.V798L|RP11-75C23.1_ENST00000422250.1_RNA NM_201253.2 NP_957705.1 P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 1334 cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 GCGCTGCGAGGTGGACGTAAG 0.488000 41 48 0 0 0.013114 0 0 ZNF536 9745 broad.mit.edu 37 19 31025865 31025865 + Missense_Mutation SNP G G A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr19:31025865G>A ENST00000355537.3 + 3 2429 c.2282G>A c.(2281-2283)cGg>cAg p.R761Q NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) AAAACTTTCCGGACATCCCAT 0.607000 11 91 0 0 0.010729 0 0 OR5D18 219438 broad.mit.edu 37 11 55587564 55587564 + Silent SNP A A T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr11:55587564A>T ENST00000333976.4 + 1 479 c.459A>T c.(457-459)ggA>ggT p.G153G NM_001001952.1 NP_001001952.1 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, member 18 153 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_epithelial(135;0.208) ATGCCTGGGGAGTCTCATGTT 0.473000 4 132 0 0 0.009096 0 0 LMTK2 22853 broad.mit.edu 37 7 97822452 97822452 + Missense_Mutation SNP A A G TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr7:97822452A>G ENST00000297293.5 + 11 2968 c.2675A>G c.(2674-2676)gAg>gGg p.E892G NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 892 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) GAGAGTGAGGAGACCCTGCGA 0.552000 9 22 0 0 0.006214 0 0 KIAA2026 158358 broad.mit.edu 37 9 5921211 5921211 + Silent SNP T T C TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr9:5921211T>C ENST00000399933.3 - 8 4784 c.4785A>G c.(4783-4785)tcA>tcG p.S1595S KIAA2026_ENST00000381461.2_Silent_p.S1565S NM_001017969.2 NP_001017969.2 Q5HYC2 K2026_HUMAN KIAA2026 1595 breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1) 46 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) ATATGTTAATTGATGGTATAG 0.373000 27 41 0 0 0.008361 0 0 SLC14A2 8170 broad.mit.edu 37 18 43204647 43204647 + Missense_Mutation SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr18:43204647C>A ENST00000255226.6 + 2 834 c.18C>A c.(16-18)agC>agA p.S6R SLC14A2_ENST00000586448.1_Missense_Mutation_p.S6R NM_007163.3 NP_009094.3 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), member 2 6 apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 ACCCCCACAGCAGTCCTCTCC 0.572000 49 135 3.37225e-12 5.52542e-12 0.014410 1 0 MYH3 4621 broad.mit.edu 37 17 10538233 10538233 + Missense_Mutation SNP T T C TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr17:10538233T>C ENST00000583535.1 - 31 4367 c.4280A>G c.(4279-4281)gAg>gGg p.E1427G MYH3_ENST00000226209.7_Missense_Mutation_p.E1427G NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 1427 muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 CATCAGATCCTCCACCTCTCC 0.537000 10 42 0 0 0.010729 0 0 C3orf67 200844 broad.mit.edu 37 3 58817568 58817568 + Silent SNP C C T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr3:58817568C>T ENST00000295966.7 - 13 1769 c.1266G>A c.(1264-1266)gaG>gaA p.E422E RP11-147N17.1_ENST00000463703.1_RNA|C3orf67_ENST00000482387.1_Silent_p.E548E|RP11-147N17.1_ENST00000493123.1_RNA|RP11-147N17.1_ENST00000492031.1_RNA|RP11-147N17.1_ENST00000482372.1_RNA NM_198463.2 NP_940865.1 Q6ZVT6 CC067_HUMAN chromosome 3 open reading frame 67 428 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1) 19 all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248) BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23) GCATCTGTAACTCGGATTCAC 0.493000 13 27 0 0 0.004007 0 0 NEK3 4752 broad.mit.edu 37 13 52710350 52710350 + Missense_Mutation SNP T T C TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr13:52710350T>C ENST00000452082.2 - 11 2318 c.1088A>G c.(1087-1089)cAt>cGt p.H363R NEK3_ENST00000339406.3_Missense_Mutation_p.H359R|NEK3_ENST00000400357.2_Missense_Mutation_p.H342R|NEK3_ENST00000378101.2_Missense_Mutation_p.H359R P51956 NEK3_HUMAN NIMA-related kinase 3 359 cell division|mitosis nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2) 18 Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.81e-08) CTGTCGTCTATGAAGATTTGG 0.403000 8 41 0 0 0.003080 0 0 CHEK2P2 646096 broad.mit.edu 37 15 20488814 20488814 + RNA SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr15:20488814C>A ENST00000555186.1 + 0 297 NR_038836.1 TATGTGGAACCCCCACCTGCT 0.428000 12 44 6.40141e-05 7.651e-05 0.010729 1 0 RP11-125O5.2 0 broad.mit.edu 37 12 21207544 21207544 + Nonsense_Mutation SNP T T G TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr12:21207544T>G ENST00000590779.1 + 1 17 c.17T>G c.(16-18)tTa>tGa p.L6* LST3_ENST00000381541.3_Silent_p.L552L|SLCO1B7_ENST00000421593.2_Silent_p.L505L|SLCO1B7_ENST00000554957.1_Silent_p.L552L|SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000540229.1_Intron CAGTTGGACTTACCTCATATT 0.353000 10 13 0 0 0.008291 0 0 KIF2B 84643 broad.mit.edu 37 17 51902048 51902048 + Missense_Mutation SNP C C A rs114241810 byFrequency TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr17:51902048C>A ENST00000268919.4 + 1 1810 c.1654C>A c.(1654-1656)Cgt>Agt p.R552S NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 552 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 GCCCTACCATCGTGGCCACTA 0.398000 40 55 4.10826e-27 7.54623e-27 0.014410 1 0 AADAT 51166 broad.mit.edu 37 4 170991790 170991790 + Missense_Mutation SNP T T C TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr4:170991790T>C ENST00000337664.4 - 6 944 c.668A>G c.(667-669)tAt>tGt p.Y223C AADAT_ENST00000353187.2_Missense_Mutation_p.Y223C|AADAT_ENST00000515480.1_Missense_Mutation_p.Y223C|AADAT_ENST00000509167.1_Missense_Mutation_p.Y227C NM_016228.3 NP_057312.1 Q8N5Z0 AADAT_HUMAN aminoadipate aminotransferase 223 2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process mitochondrial matrix 2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1) 11 Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17) GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118) L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) GAGGAAATCATATTTTCTTGC 0.234000 6 26 0 0 0.001984 0 0 ANK3 288 broad.mit.edu 37 10 61836088 61836088 + Silent SNP G G A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr10:61836088G>A ENST00000280772.1 - 37 4742 c.4551C>T c.(4549-4551)gcC>gcT p.A1517A ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 1517 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 AGCCTGACTTGGCTGGCCCAG 0.458000 21 61 0 0 0.008871 0 0 AMELX 265 broad.mit.edu 37 X 11316225 11316225 + Missense_Mutation SNP C C G TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chrX:11316225C>G ENST00000380712.3 + 4 173 c.105C>G c.(103-105)aaC>aaG p.N35K ARHGAP6_ENST00000337414.4_Intron|ARHGAP6_ENST00000380736.1_Intron|AMELX_ENST00000348912.4_Intron|ARHGAP6_ENST00000413512.3_Intron|AMELX_ENST00000380714.3_Intron|ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000380732.3_Intron NM_182680.1 NP_872621.1 Q99217 AMELX_HUMAN amelogenin, X-linked 34 cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction proteinaceous extracellular matrix cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel endometrium(3)|kidney(2)|large_intestine(1)|lung(9) 15 TTTTGTAGAACTCACATTCTC 0.358000 8 142 0 0 0.006214 0 0 RHAG 6005 broad.mit.edu 37 6 49578832 49578832 + Silent SNP G G T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr6:49578832G>T ENST00000371175.4 - 7 998 c.972C>A c.(970-972)atC>atA p.I324I RHAG_ENST00000229810.7_Intron NM_000324.2 NP_000315.2 Q02094 RHAG_HUMAN Rh-associated glycoprotein 324 carbon dioxide transport|cellular ion homeostasis integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 39 Lung NSC(77;0.0255) ATGTATCATGGATCCTCAGTT 0.428000 11 35 1.58986e-06 2.03994e-06 0.008291 1 0 SMG1 23049 broad.mit.edu 37 16 18887484 18887484 + Silent SNP G G A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr16:18887484G>A ENST00000446231.2 - 13 2264 c.1852C>T c.(1852-1854)Ctg>Ttg p.L618L SMG1_ENST00000389467.3_Silent_p.L618L|SMG1_ENST00000565224.1_Silent_p.L592L Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 618 Interaction with SMG8 and SMG9. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 ATTGTAGTCAGGGCACTGAGG 0.343000 25 70 0 0 0.018920 0 0 ZNF215 7762 broad.mit.edu 37 11 6977244 6977244 + Missense_Mutation SNP G G T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr11:6977244G>T ENST00000278319.5 + 7 1624 c.1036G>T c.(1036-1038)Gac>Tac p.D346Y ZNF215_ENST00000529903.1_Intron|ZNF215_ENST00000414517.2_Missense_Mutation_p.D346Y|ZNF215_ENST00000527171.1_3'UTR NM_013250.2 NP_037382.2 Q9UL58 ZN215_HUMAN zinc finger protein 215 346 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4) 32 Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134) ATTTAATTTAGACTCAGTAGG 0.323000 17 38 1.67942e-08 2.39231e-08 0.006122 1 0 KIAA0226L 80183 broad.mit.edu 37 13 46919590 46919590 + Missense_Mutation SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr13:46919590C>A ENST00000429979.1 - 13 2381 c.1777G>T c.(1777-1779)Ggc>Tgc p.G593C KIAA0226L_ENST00000534925.1_Missense_Mutation_p.G458C|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.G526C|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.G593C|KIAA0226L_ENST00000378781.3_3'UTR|KIAA0226L_ENST00000378787.3_Intron|KIAA0226L_ENST00000322896.6_Missense_Mutation_p.G436C|KIAA0226L_ENST00000378797.2_Intron|KIAA0226L_ENST00000409879.2_Missense_Mutation_p.G436C NM_025113.2 NP_079389.2 Q9H714 CM018_HUMAN KIAA0226-like 593 NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1) 26 ACCTCACAGCCAGCCACATGT 0.552000 8 11 3.09899e-07 4.11234e-07 0.004482 1 0 WBP11P1 441818 broad.mit.edu 37 18 30091980 30091980 + RNA SNP C C T rs79835848 TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr18:30091980C>T ENST00000567636.1 + 0 355 NR_003558.1 TGATCCGAGACATGGAGAAAT 0.408000 10 26 0 0 0.006214 0 0 GPR65 8477 broad.mit.edu 37 14 88477589 88477589 + Missense_Mutation SNP T T A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr14:88477589T>A ENST00000267549.3 + 2 956 c.398T>A c.(397-399)aTg>aAg p.M133K RP11-300J18.2_ENST00000554433.1_RNA NM_003608.3 NP_003599.2 Q8IYL9 PSYR_HUMAN G protein-coupled receptor 65 133 actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity integral to plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1) 16 TTTGCACTCATGGTCAGCCTG 0.428000 31 113 0 0 0.013726 0 0 KRTAP10-2 386679 broad.mit.edu 37 21 45971330 45971330 + Silent SNP G G A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr21:45971330G>A ENST00000391621.1 - 1 58 c.12C>T c.(10-12)tcC>tcT p.S4S TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron|KRTAP10-2_ENST00000498210.1_5'UTR NM_198693.2 NP_941966.1 P60368 KR102_HUMAN keratin associated protein 10-2 4 keratin filament large_intestine(1)|lung(4)|skin(1) 6 TGGACATGGTGGAGGCGGCCA 0.632000 4 84 0 0 0.001168 0 0 CD200R1 131450 broad.mit.edu 37 3 112643970 112643970 + Silent SNP G G T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr3:112643970G>T ENST00000471858.1 - 5 1003 c.771C>A c.(769-771)atC>atA p.I257I CD200R1_ENST00000308611.3_Silent_p.I280I|CD200R1_ENST00000295863.4_Intron NM_170780.2 NP_740750.1 Q8TD46 MO2R1_HUMAN CD200 receptor 1 257 interspecies interaction between organisms|regulation of immune response extracellular region|integral to membrane|plasma membrane receptor activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 26 TGAATCCCACGATGGTCAAAA 0.313000 7 40 1.12685e-05 1.39458e-05 0.004482 1 0 LOC643733 643733 broad.mit.edu 37 11 104778347 104778347 + RNA SNP T T A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr11:104778347T>A ENST00000532510.1 - 0 1085 CTTCATATTCTGGAAAAGAGC 0.473000 10 35 0 0 0.008291 0 0 SNRPD3 6634 broad.mit.edu 37 22 24964112 24964112 + Missense_Mutation SNP G G T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr22:24964112G>T ENST00000215829.3 + 3 874 c.287G>T c.(286-288)gGc>gTc p.G96V SNRPD3_ENST00000402849.1_Missense_Mutation_p.G96V NM_001278656.1|NM_004175.3 NP_001265585.1|NP_004166.1 P62318 SMD3_HUMAN small nuclear ribonucleoprotein D3 polypeptide 18kDa 96 Arg/Lys-rich (basic). histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP enzyme binding|histone pre-mRNA DCP binding endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 6 TCAGGGGCTGGCCGAGGAAAA 0.453000 24 30 1.99505e-19 3.58904e-19 0.012213 1 0 CDH5 1003 broad.mit.edu 37 16 66420949 66420949 + Missense_Mutation SNP G G A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr16:66420949G>A ENST00000341529.3 + 3 596 c.448G>A c.(448-450)Gtg>Atg p.V150M CDH5_ENST00000563425.2_Missense_Mutation_p.V150M NM_001795.3 NP_001786.2 P33151 CADH5_HUMAN cadherin 5, type 2 (vascular endothelium) 150 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity integral to membrane|membrane fraction beta-catenin binding|calcium ion binding|ion channel binding|receptor binding central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 Ovarian(137;0.0955) OV - Ovarian serous cystadenocarcinoma(108;0.107) CAACTGGCCTGTGTTCACGCA 0.567000 3 12 0 0 0.004672 0 0 PGK2 5232 broad.mit.edu 37 6 49754451 49754451 + Missense_Mutation SNP G G T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr6:49754451G>T ENST00000304801.3 - 1 602 c.450C>A c.(448-450)ttC>ttA p.F150L NM_138733.4 NP_620061.2 P07205 PGK2_HUMAN phosphoglycerate kinase 2 150 glycolysis cytosol ATP binding|phosphoglycerate kinase activity autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 47 Lung NSC(77;0.0402) GTGATGCTCGGAAGGCTTCTA 0.502000 14 50 1.3612e-06 1.75299e-06 0.003163 1 0 CAND1 55832 broad.mit.edu 37 12 67699344 67699344 + Silent SNP G G A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr12:67699344G>A ENST00000545606.1 + 10 2333 c.1896G>A c.(1894-1896)ttG>ttA p.L632L NM_018448.3 NP_060918.2 Q86VP6 CAND1_HUMAN cullin-associated and neddylation-dissociated 1 632 cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|ubiquitin ligase complex protein binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1) 35 GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(28;0.0279) TAAAGGCATTGACACTGATTG 0.408000 7 87 0 0 0.001984 0 0 TTN 7273 broad.mit.edu 37 2 179590742 179590742 + Silent SNP T T A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr2:179590742T>A ENST00000589042.1 - 70 20531 c.20307A>T c.(20305-20307)atA>atT p.I6769I TTN_ENST00000359218.5_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Silent_p.I5525I|TTN_ENST00000591111.1_Silent_p.I6452I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6452 Ig-like 49. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGGTTTCTACTATAGGAGGGA 0.388000 13 37 0 0 0.020292 0 0 DMXL1 1657 broad.mit.edu 37 5 118506471 118506471 + Missense_Mutation SNP A A T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr5:118506471A>T ENST00000311085.8 + 24 6065 c.5985A>T c.(5983-5985)aaA>aaT p.K1995N DMXL1_ENST00000539542.1_Missense_Mutation_p.K1995N NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 1995 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) AAACAGATAAAAAGTTGGATG 0.313000 7 22 0 0 0.003080 0 0 MIR519A2 574500 broad.mit.edu 37 19 54265669 54265669 + RNA SNP G G T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr19:54265669G>T ENST00000384990.1 + 0 72 NR_030222.1 TCCTTTTAGAGTGTTACTGTT 0.423000 13 88 1.5842e-08 2.27525e-08 0.016723 1 0 C9orf50 375759 broad.mit.edu 37 9 132375845 132375845 + Silent SNP G G T rs139948871 TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr9:132375845G>T ENST00000372478.4 - 5 1113 c.912C>A c.(910-912)gcC>gcA p.A304A NTMT1_ENST00000372486.1_Intron NM_199350.3 NP_955382.3 Q5SZB4 CI050_HUMAN chromosome 9 open reading frame 50 304 central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1) 10 Ovarian(14;0.00556) CTGGCAGGGCGGCCTTCTGGT 0.627000 16 10 2.39187e-15 4.13249e-15 0.008871 1 0 PCDH1 5097 broad.mit.edu 37 5 141248394 141248394 + Nonsense_Mutation SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr5:141248394C>A ENST00000287008.3 - 2 790 c.643G>T c.(643-645)Gag>Tag p.E215* PCDH1_ENST00000456271.1_Intron|PCDH1_ENST00000536585.1_Nonsense_Mutation_p.E193*|PCDH1_ENST00000503492.1_Nonsense_Mutation_p.E215*|PCDH1_ENST00000394536.3_Nonsense_Mutation_p.E215* NM_032420.2 NP_115796.2 Q08174 PCDH1_HUMAN protocadherin 1 215 Cadherin 2. cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1) 51 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) CCAAATAGCTCCTGGGCCTCA 0.607000 45 127 4.64027e-19 8.30488e-19 0.014410 1 0 THSD1 55901 broad.mit.edu 37 13 52971719 52971719 + Silent SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr13:52971719C>A ENST00000349258.4 - 3 1213 c.669G>T c.(667-669)ggG>ggT p.G223G THSD1_ENST00000544466.1_Intron|THSD1_ENST00000258613.4_Silent_p.G223G NM_199263.2 NP_954872.1 Q9NS62 THSD1_HUMAN thrombospondin, type I, domain containing 1 223 extracellular region|integral to membrane|intracellular membrane-bounded organelle breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.8e-08) CTGAGTCTCGCCCAAGCAGCT 0.542000 4 26 0.00909568 0.00970762 0.009096 1 0 KIAA1211 57482 broad.mit.edu 37 4 57190412 57190412 + Missense_Mutation SNP C C T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr4:57190412C>T ENST00000504228.1 + 8 3626 c.3521C>T c.(3520-3522)aCt>aTt p.T1174I KIAA1211_ENST00000541073.1_Missense_Mutation_p.T1167I|KIAA1211_ENST00000264229.6_Missense_Mutation_p.T1174I Q6ZU35 K1211_HUMAN KIAA1211 1174 endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) AAGGCCAATACTCTTCCTACG 0.498000 13 18 0 0 0.004007 0 0 LAX1 54900 broad.mit.edu 37 1 203740567 203740567 + Missense_Mutation SNP A A T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr1:203740567A>T ENST00000442561.2 + 3 662 c.272A>T c.(271-273)aAt>aTt p.N91I LAX1_ENST00000367215.1_3'UTR|LAX1_ENST00000367217.5_Missense_Mutation_p.N75I NM_017773.3 NP_060243.2 Q8IWV1 LAX1_HUMAN lymphocyte transmembrane adaptor 1 91 B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation Golgi apparatus|integral to membrane|plasma membrane protein kinase binding|SH2 domain binding central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2) 24 all_cancers(21;0.0915) BRCA - Breast invasive adenocarcinoma(75;0.109) AGAGCCAAAAATATTTATGAC 0.468000 57 298 0 0 0.014410 0 0 CACNA1A 773 broad.mit.edu 37 19 13395964 13395964 + Nonsense_Mutation SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr19:13395964C>A ENST00000360228.5 - 21 3609 c.3610G>T c.(3610-3612)Gag>Tag p.E1204* CACNA1A_ENST00000573710.2_Nonsense_Mutation_p.E1205* NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 1205 Poly-Glu. cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) tcttcctcctcctccttcttc 0.552000 6 24 3.59834e-05 4.37568e-05 0.001168 1 0 STX1B 112755 broad.mit.edu 37 16 31008351 31008351 + Missense_Mutation SNP C C A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr16:31008351C>A ENST00000215095.5 - 6 615 c.384G>T c.(382-384)gaG>gaT p.E128D STX1B_ENST00000565419.1_Missense_Mutation_p.E128D NM_052874.3 NP_443106.1 P61266 STX1B_HUMAN syntaxin 1B 128 intracellular protein transport|neurotransmitter transport|synaptic transmission integral to plasma membrane extracellular-glutamate-gated ion channel activity|SNAP receptor activity breast(2)|endometrium(1)|large_intestine(5)|lung(5) 13 CGGTCATTACCTCCACGAACT 0.622000 7 19 1.76689e-08 2.50669e-08 0.006214 1 0 NDUFB5 4711 broad.mit.edu 37 3 179341712 179341712 + Missense_Mutation SNP A A G TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr3:179341712A>G ENST00000493866.1 + 4 323 c.298A>G c.(298-300)Aag>Gag p.K100E NDUFB5_ENST00000472629.1_Missense_Mutation_p.K140E|NDUFB5_ENST00000259037.3_Missense_Mutation_p.K152E|NDUFB5_ENST00000473500.1_3'UTR NM_001199957.1 NP_001186886.1 O43674 NDUB5_HUMAN NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa 152 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity endometrium(1)|lung(6)|skin(1) 8 all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18) NADH(DB00157) TTACAGGGTAAAGGAGCTGGA 0.393000 11 112 0 0 0.020292 0 0 RERE 473 broad.mit.edu 37 1 8418524 8418525 + Frame_Shift_Ins INS - - G TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr1:8418524_8418525insG ENST00000337907.3 - 21 4704_4705 c.4070_4071insC c.(4069-4071)cacfs p.H1357fs RERE_ENST00000377464.1_Frame_Shift_Ins_p.H1089fs|RERE_ENST00000476556.1_Frame_Shift_Ins_p.H803fs|RERE_ENST00000400908.2_Frame_Shift_Ins_p.H1357fs|RERE_ENST00000400907.2_Intron NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide (RE) repeats 1357 multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) GCCCGGCGGTCGGGGGGATGGT 0.703 2 4 --- --- --- --- RP1-159A19.4 0 broad.mit.edu 37 1 27852856 27852857 + RNA INS - - G TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr1:27852856_27852857insG ENST00000443579.1 + 0 81 TTTTCTTTGGAGGGGGGGACGG 0.515 3 6 --- --- --- --- LOC101928460 101928460 broad.mit.edu 37 1 29671660 29671660 + RNA DEL G G - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr1:29671660delG ENST00000417651.1 - 0 432 AGCTAGGGGAGGGGCCTCAGG 0.557 2 4 --- --- --- --- RP11-84A19.4 0 broad.mit.edu 37 1 32332332 32332332 + RNA DEL G G - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr1:32332332delG ENST00000602889.1 - 0 485 aagtgaacatgggatgcatgt 0.418 2 4 --- --- --- --- RP5-884C9.2 0 broad.mit.edu 37 1 38543750 38543750 + RNA DEL T T - rs141538728 TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr1:38543750delT ENST00000432922.1 + 0 301 tttttcttccttttttttttt 0.468 2 4 --- --- --- --- LINC01057 101928079 broad.mit.edu 37 1 95185177 95185178 + RNA DEL AC AC - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr1:95185177_95185178delAC ENST00000452922.1 - 0 506 CCAACTCTCTACAGGCTCTGAG 0.460 2 4 --- --- --- --- LOC101927209 101927209 broad.mit.edu 37 1 142638276 142638276 + RNA DEL A A - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr1:142638276delA ENST00000369381.2 - 0 2507 RP11-417J8.3_ENST00000426408.1_lincRNA CTGTCATCTGACCCCCCACAC 0.567 2 4 --- --- --- --- LOC101927209 101927209 broad.mit.edu 37 1 142648461 142648462 + RNA INS - - T rs149586890 TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr1:142648461_142648462insT ENST00000369381.2 - 0 2507 RP11-417J8.3_ENST00000426408.1_lincRNA taatttttgtattttttttttg 0.475 4 3 --- --- --- --- LOC101927209 101927209 broad.mit.edu 37 1 142675957 142675957 + RNA DEL G G - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr1:142675957delG ENST00000369381.2 - 0 2507 cataccagaagaccaagcagc 0.423 4 3 --- --- --- --- RP11-640M9.2 0 broad.mit.edu 37 1 144597567 144597568 + RNA INS - - A rs67984124 TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr1:144597567_144597568insA ENST00000419820.1 + 0 439 TAAAATCTCTTACAGCTATTAT 0.272 4 3 --- --- --- --- FAM63A 55793 broad.mit.edu 37 1 150970641 150970644 + Frame_Shift_Del DEL AGTC AGTC - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr1:150970641_150970644delAGTC ENST00000361936.5 - 9 2041_2044 c.1087_1090delGACT c.(1087-1092)ttfs p.DF363fs FAM63A_ENST00000493834.2_Frame_Shift_Del_p.DF268fs|FAM63A_ENST00000361738.6_Frame_Shift_Del_p.DF411fs|FAM63A_ENST00000312210.5_Frame_Shift_Del_p.DF221fs NM_018379.4 NP_060849.2 Q8N5J2 FA63A_HUMAN family with sequence similarity 63, member A 363 protein binding breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CTCAGGTGAAAGTCAGAGTCACAA 0.554 71 202 --- --- --- --- FLG-AS1 339400 broad.mit.edu 37 1 152302092 152302093 + RNA DEL TC TC - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr1:152302092_152302093delTC ENST00000392688.2 + 0 914 FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NR_103778.1 AGtctctctttctctctctctc 0.436 2 4 --- --- --- --- LOC400794 400794 broad.mit.edu 37 1 165548530 165548530 + RNA DEL A A - rs145895783 TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr1:165548530delA ENST00000438275.1 - 0 774 RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA agagtgagacaaaaaaaaaaa 0.473 2 4 --- --- --- --- LINC00626 79100 broad.mit.edu 37 1 168760767 168760768 + RNA DEL CA CA - rs72119337 TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr1:168760767_168760768delCA ENST00000420691.1 + 0 399 NR_024160.1 CTATCTTTATcacacacacaca 0.470 4 9 --- --- --- --- LINC00970 101978719 broad.mit.edu 37 1 168946606 168946606 + RNA DEL C C - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr1:168946606delC ENST00000366408.3 - 0 209 TCTCCAAGCTcctggctcttc 0.458 2 4 --- --- --- --- RP5-1011O1.2 0 broad.mit.edu 37 1 192511554 192511554 + RNA DEL C C - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr1:192511554delC ENST00000434300.1 - 0 71 tgccaccatgcccagctaatt 0.502 2 4 --- --- --- --- LOC400800 400800 broad.mit.edu 37 1 199350020 199350021 + RNA INS - - C TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr1:199350020_199350021insC ENST00000452199.1 + 0 309 attttttatcacccccagatga 0.351 2 4 --- --- --- --- HLX-AS1 100873924 broad.mit.edu 37 1 221023125 221023125 + RNA DEL A A - rs34072294 TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr1:221023125delA ENST00000552026.1 - 0 292 tttttggaagaatttgaatag 0.318 4 3 --- --- --- --- RP11-400N13.1 0 broad.mit.edu 37 1 222405266 222405267 + RNA INS - - T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr1:222405266_222405267insT ENST00000416510.1 - 0 167 AAACATGACTATTTTGACATTC 0.361 2 4 --- --- --- --- RP11-400N13.1 0 broad.mit.edu 37 1 222417657 222417658 + RNA INS - - A rs75967382 by1000genomes TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr1:222417657_222417658insA ENST00000416510.1 - 0 167 gaccctgtctcaaaaaaaatta 0.426 3 3 --- --- --- --- RP11-239E10.3 0 broad.mit.edu 37 1 223355458 223355458 + RNA DEL T T - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr1:223355458delT ENST00000446145.1 + 0 149 gagccagggctttcatctcca 0.473 2 4 --- --- --- --- CTD-2090I13.1 0 broad.mit.edu 37 1 227586615 227586615 + RNA DEL A A - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr1:227586615delA ENST00000445817.1 + 0 210 actaaacatcaaaaaaattag 0.517 2 4 --- --- --- --- LOC101927787 101927787 broad.mit.edu 37 1 234798921 234798921 + RNA DEL C C - rs113432863 TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr1:234798921delC ENST00000441360.1 + 0 98 acctcactcacctcacctcac 0.537 6 5 --- --- --- --- RP11-634B7.4 0 broad.mit.edu 37 1 247806104 247806105 + RNA INS - - C rs138858297 by1000genomes TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr1:247806104_247806105insC ENST00000449298.1 + 0 681 RP11-634B7.4_ENST00000582218.1_RNA TACCAACATTATTTGCTTGGAG 0.426 6 2 --- --- --- --- LINC01250 101927554 broad.mit.edu 37 2 3012678 3012678 + RNA DEL A A - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr2:3012678delA ENST00000457478.1 - 0 438 AATTTTCACTAAACATATCAA 0.388 2 4 --- --- --- --- AC019118.3 0 broad.mit.edu 37 2 3135490 3135491 + RNA INS - - G rs147270613 by1000genomes TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr2:3135490_3135491insG ENST00000425776.1 - 0 579_580 CCCTCCGCCCTGGGGGCCGTGT 0.584 2 4 --- --- --- --- AC016768.1 0 broad.mit.edu 37 2 23245887 23245887 + RNA DEL A A - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr2:23245887delA ENST00000421581.1 - 0 410 taataaaactaaaaaaaaaaa 0.448 3 5 --- --- --- --- LINC01317 104355287 broad.mit.edu 37 2 33943400 33943400 + RNA DEL A A - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr2:33943400delA ENST00000366209.2 + 0 68 AGTTGGACTTAAAAAAAAAAA 0.468 2 4 --- --- --- --- AC006369.2 0 broad.mit.edu 37 2 37854610 37854611 + RNA INS - - A rs143523490 by1000genomes TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr2:37854610_37854611insA ENST00000419425.1 + 0 313 AAATACCAATTAAAAAAAAAAT 0.356 2 4 --- --- --- --- AC009229.5 0 broad.mit.edu 37 2 38463674 38463675 + RNA INS - - G TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr2:38463674_38463675insG ENST00000450854.1 - 0 533 gttacctacatgggggggaaaa 0.421 3 3 --- --- --- --- SLC8A1-AS1 100128590 broad.mit.edu 37 2 40189891 40189891 + RNA DEL G G - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr2:40189891delG ENST00000418854.1 + 0 132 SLC8A1-AS1_ENST00000599740.1_RNA tattggtcaagggtatatctt 0.483 2 4 --- --- --- --- LRPPRC 10128 broad.mit.edu 37 2 44190820 44190821 + Frame_Shift_Ins INS - - A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr2:44190820_44190821insA ENST00000260665.7 - 12 1451_1452 c.1394_1395insT c.(1393-1395)acafs p.T465fs LRPPRC_ENST00000409659.1_Frame_Shift_Ins_p.T465fs|LRPPRC_ENST00000409946.1_Frame_Shift_Ins_p.T465fs NM_133259.3 NP_573566.2 P42704 LPPRC_HUMAN leucine-rich pentatricopeptide repeat containing 465 mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm beta-tubulin binding|microtubule binding|RNA binding breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2) 41 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) CCAATTCTTGCATTCCTTTGAG 0.356 20 71 --- --- --- --- LINC01122 400955 broad.mit.edu 37 2 59203599 59203600 + RNA INS - - T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr2:59203599_59203600insT ENST00000452840.1 + 0 815 ctctctctctctttttttcttt 0.401 2 4 --- --- --- --- LOC100507073 100507073 broad.mit.edu 37 2 66887745 66887746 + RNA INS - - G rs144053403 by1000genomes TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr2:66887745_66887746insG ENST00000433396.1 + 0 136 atgaaatcacttagtgtgtttt 0.381 4 4 --- --- --- --- AC010987.5 0 broad.mit.edu 37 2 67819217 67819218 + RNA INS - - A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr2:67819217_67819218insA ENST00000419809.1 - 0 126 aaaacacccttaaaaaaaccaa 0.356 2 4 --- --- --- --- WBP1 23559 broad.mit.edu 37 2 74687542 74687543 + Frame_Shift_Ins INS - - C TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr2:74687542_74687543insC ENST00000393972.3 + 5 849_850 c.646_647insC c.(646-648)cccfs p.P216fs WBP1_ENST00000494741.1_3'UTR|WBP1_ENST00000409737.1_Frame_Shift_Ins_p.P179fs|WBP1_ENST00000233615.2_Frame_Shift_Ins_p.P182fs Q96G27 WBP1_HUMAN WW domain binding protein 1 182 WW domain binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1) 8 CCACCAGAGTGCCCCCCCTCAT 0.604 7 86 --- --- --- --- LOC101927948 101927948 broad.mit.edu 37 2 78330725 78330725 + RNA DEL T T - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr2:78330725delT ENST00000439259.1 + 0 352 tttggtgcacttttttttttt 0.413 2 4 --- --- --- --- AC010105.1 0 broad.mit.edu 37 2 82709075 82709076 + RNA INS - - AT rs144399460 by1000genomes TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr2:82709075_82709076insAT ENST00000437290.2 - 0 204 gacacaaggtgatatatgttca 0.248 4 2 --- --- --- --- AC096669.1 0 broad.mit.edu 37 2 108002487 108002488 + RNA INS - - CG rs34398758 byFrequency TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr2:108002487_108002488insCG ENST00000422203.2 + 0 374 AC096669.2_ENST00000414300.1_lincRNA acacacacacacacacaACAGA 0.426 3 4 --- --- --- --- NIFK-AS1 254128 broad.mit.edu 37 2 122469230 122469230 + RNA DEL A A - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr2:122469230delA ENST00000419902.1 + 0 637 NR_037857.1 caacagagttaaaaaaaaaaa 0.473 2 4 --- --- --- --- TEX41 401014 broad.mit.edu 37 2 145608670 145608670 + RNA DEL A A - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr2:145608670delA ENST00000445791.1 + 0 307 NR_033870.2 AGAGTGTCATAAGCCAGTGGT 0.353 2 4 --- --- --- --- LOC101927156 101927156 broad.mit.edu 37 2 182250495 182250495 + RNA DEL A A - rs112756274 TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr2:182250495delA ENST00000435411.1 + 0 590 aatatttaccaaaaaaaaaat 0.318 3 3 --- --- --- --- LOC101927865 101927865 broad.mit.edu 37 2 208086822 208086823 + RNA INS - - A rs71036908 by1000genomes TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr2:208086822_208086823insA ENST00000448786.1 - 0 665 AC007879.1_ENST00000435643.1_lincRNA ACACTTTCCACAAAAAAAGAAA 0.450 8 3 --- --- --- --- AC007879.5 0 broad.mit.edu 37 2 208173235 208173235 + RNA DEL G G - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr2:208173235delG ENST00000412387.1 - 0 315 tctctgcacagggcaagaaat 0.502 2 4 --- --- --- --- AC098820.2 0 broad.mit.edu 37 2 217267522 217267522 + RNA DEL T T - rs34142901 TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr2:217267522delT ENST00000457694.1 - 0 272 ATGCTAATGCTCTTTCCCAAA 0.423 3 4 --- --- --- --- KIF9-AS1 285352 broad.mit.edu 37 3 47262087 47262087 + RNA DEL T T - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr3:47262087delT ENST00000429315.3 + 0 329 NR_033373.1 cattcatctatttttccaccc 0.493 2 4 --- --- --- --- PRICKLE2-AS1 100652759 broad.mit.edu 37 3 64066305 64066306 + RNA INS - - C rs61258686 by1000genomes TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr3:64066305_64066306insC ENST00000482609.1 + 0 198 RP11-129B22.2_ENST00000485805.1_lincRNA NR_045697.1 CAGCTTTTTTTCCCACATCTTC 0.465 3 5 --- --- --- --- ADAMTS9-AS2 100507098 broad.mit.edu 37 3 64755615 64755615 + RNA DEL G G - rs10709752 TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr3:64755615delG ENST00000460833.1 + 0 430 ADAMTS9-AS2_ENST00000481312.1_RNA|ADAMTS9-AS2_ENST00000474768.1_RNA TGAAAGAGATGGGGGAAACCA 0.438 2 4 --- --- --- --- LOC101927346 101927346 broad.mit.edu 37 3 74052053 74052054 + RNA INS - - T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr3:74052053_74052054insT ENST00000494761.1 + 0 89 ttctttttttcttttttttttt 0.426 2 4 --- --- --- --- EPHA6 285220 broad.mit.edu 37 3 96706208 96706208 + Frame_Shift_Del DEL G G - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr3:96706208delG ENST00000389672.5 + 3 523 c.485delG c.(484-486)agfs p.R162fs EPHA6_ENST00000470610.2_Frame_Shift_Del_p.R162fs|EPHA6_ENST00000542517.1_Frame_Shift_Del_p.R68fs NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 67 Ephrin-binding. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 GAACATAATAGGCCCATTCAC 0.368 29 62 --- --- --- --- RP11-200A1.1 0 broad.mit.edu 37 3 134034954 134034957 + RNA DEL TCCG TCCG - rs66630779 TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr3:134034954_134034957delTCCG ENST00000482019.1 + 0 42 cattcattcatccgtccattcagt 0.387 3 5 --- --- --- --- AADACL2-AS1 101928142 broad.mit.edu 37 3 151614330 151614331 + RNA INS - - CT rs147334829 by1000genomes TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr3:151614330_151614331insCT ENST00000483843.2 - 0 439 RP11-454C18.2_ENST00000475855.1_RNA acactctctcactctctctctc 0.356 2 4 --- --- --- --- RP11-246A10.1 0 broad.mit.edu 37 3 151842543 151842544 + RNA INS - - C TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr3:151842543_151842544insC ENST00000482382.1 - 0 59 aaaaaaaaaaaaaagaaatgta 0.490 2 4 --- --- --- --- LINC00578 100505566 broad.mit.edu 37 3 177238022 177238023 + RNA INS - - C TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr3:177238022_177238023insC ENST00000442937.1 + 0 190 NR_047568.1 cggtctgtatgcccccctagaa 0.559 2 4 --- --- --- --- LINC00578 100505566 broad.mit.edu 37 3 177289390 177289390 + RNA DEL T T - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr3:177289390delT ENST00000442937.1 + 0 289 NR_047568.1 gggtaccaagtttccaactct 0.428 2 4 --- --- --- --- LOC100507391 100507391 broad.mit.edu 37 3 194443192 194443192 + RNA DEL G G - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr3:194443192delG ENST00000423318.1 + 0 727 NR_037891.1 acacctttgtgggaatttgaa 0.512 2 4 --- --- --- --- LOC100129917 100129917 broad.mit.edu 37 4 766287 766288 + RNA DEL TG TG - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr4:766287_766288delTG ENST00000507446.1 - 0 59 RP11-440L14.1_ENST00000503571.1_RNA gttttttctttgtgtgtgtgtg 0.495 2 4 --- --- --- --- STX18-AS1 100507266 broad.mit.edu 37 4 4576600 4576601 + RNA DEL AC AC - rs3839105 TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr4:4576600_4576601delAC ENST00000502693.1 + 0 357 STX18-AS1_ENST00000512438.1_RNA CTTCCTCCCAacacacacacac 0.535 3 6 --- --- --- --- LINC00504 201853 broad.mit.edu 37 4 14878010 14878010 + RNA DEL A A - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr4:14878010delA ENST00000505089.1 - 0 111 tcaaggacctaaaaaaagaac 0.378 2 4 --- --- --- --- LOC401134 401134 broad.mit.edu 37 4 65830776 65830776 + RNA DEL G G - rs147094992 by1000genomes TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr4:65830776delG ENST00000509932.1 - 0 239 NR_033976.1 tttgatggctgcatagtattc 0.383 2 4 --- --- --- --- RASGEF1B 153020 broad.mit.edu 37 4 82592303 82592304 + RNA DEL AC AC - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr4:82592303_82592304delAC ENST00000510780.1 - 0 390 GGTGCTAACAacacacacacac 0.396 3 3 --- --- --- --- RP11-556I14.2 0 broad.mit.edu 37 4 105789671 105789671 + RNA DEL A A - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr4:105789671delA ENST00000515127.1 - 0 366 CAGCATGCTTAAAAAAAAAGA 0.338 2 4 --- --- --- --- LINC00616 641365 broad.mit.edu 37 4 138978086 138978095 + RNA DEL CTTGCAGGAA CTTGCAGGAA - rs67079742 TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr4:138978086_138978095delCTTGCAGGAA ENST00000514600.1 - 0 870 NR_037866.1 GCAGAAAACTCTTGCAGGAACTTGCAGGAA 0.543 2 4 --- --- --- --- RP11-284M14.1 0 broad.mit.edu 37 4 144039955 144039956 + RNA INS - - G TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr4:144039955_144039956insG ENST00000507826.1 - 0 354 GATAGAAAAAAGGGAAGATGTG 0.396 2 4 --- --- --- --- LOC100506272 100506272 broad.mit.edu 37 4 188464837 188464837 + RNA DEL A A - rs141398371 TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr4:188464837delA ENST00000515660.1 - 0 258 atggagttggaagcagtatcc 0.418 4 2 --- --- --- --- LINC01262 101928971 broad.mit.edu 37 4 190582425 190582426 + RNA INS - - G rs71213139 TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr4:190582425_190582426insG ENST00000513681.1 + 0 664_665 TGTATCCTTAAGCTTTGAGGCC 0.500 2 4 --- --- --- --- LINC01340 102546227 broad.mit.edu 37 5 96900005 96900006 + RNA INS - - A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr5:96900005_96900006insA ENST00000504012.1 + 0 159 ttcagacattgaaaaacaaagt 0.406 2 4 --- --- --- --- LINC01340 102546227 broad.mit.edu 37 5 97005389 97005390 + RNA INS - - AG rs143155647 by1000genomes TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr5:97005389_97005390insAG ENST00000504012.1 + 0 271 aggagagtaacgggagaaagtg 0.391 2 4 --- --- --- --- RP11-492A10.1 0 broad.mit.edu 37 5 113930205 113930206 + RNA INS - - A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr5:113930205_113930206insA ENST00000514115.1 - 0 331 gtgaaagtcccaaaaaactatt 0.431 2 4 --- --- --- --- CTB-1I21.1 0 broad.mit.edu 37 5 136084622 136084622 + RNA DEL T T - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr5:136084622delT ENST00000502421.1 + 0 79 agtttaattatttttttttTC 0.303 2 4 --- --- --- --- NPY6R 4888 broad.mit.edu 37 5 137146173 137146174 + RNA INS - - T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr5:137146173_137146174insT ENST00000510937.1 + 0 2721_2722 NR_002713.3 tggaggatcacttttgcccagg 0.455 2 4 --- --- --- --- LOC101926941 101926941 broad.mit.edu 37 5 141870555 141870555 + RNA DEL T T - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr5:141870555delT ENST00000443800.1 + 0 243 AC005592.2_ENST00000425963.1_RNA AAGAGTTCCATTTTTTTTTTA 0.398 2 4 --- --- --- --- LOC101927115 101927115 broad.mit.edu 37 5 151510715 151510715 + RNA DEL T T - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr5:151510715delT ENST00000524295.1 + 0 199 ATCAAATGCATTTTTAAAATG 0.323 2 4 --- --- --- --- LOC101927766 101927766 broad.mit.edu 37 5 159272242 159272243 + RNA INS - - C TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr5:159272242_159272243insC ENST00000522627.1 - 0 3691 acttttcactgccccctccctg 0.485 2 4 --- --- --- --- RP11-91H12.4 0 broad.mit.edu 37 5 175336357 175336357 + RNA DEL C C - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr5:175336357delC ENST00000502813.1 - 0 87 cccaaagcttccagtgacttc 0.557 2 4 --- --- --- --- RP11-686D16.1 0 broad.mit.edu 37 6 19321242 19321242 + RNA DEL A A - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr6:19321242delA ENST00000443504.1 - 0 10 TACTTATTGCAAAAGCAGTTC 0.353 2 4 --- --- --- --- RP1-209A6.1 0 broad.mit.edu 37 6 22756461 22756462 + RNA INS - - A rs5874888 by1000genomes TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr6:22756461_22756462insA ENST00000420572.2 - 0 197 TTTCTGCAATGATGCATTCCCT 0.431 4 3 --- --- --- --- CMAHP 8418 broad.mit.edu 37 6 25118798 25118799 + RNA INS - - T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr6:25118798_25118799insT ENST00000377989.4 - 0 724 NS(1) 1 catatttaaaatttttgttgcc 0.332 2 4 --- --- --- --- GUSBP2 387036 broad.mit.edu 37 6 26857093 26857093 + RNA DEL T T - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr6:26857093delT ENST00000463434.1 - 0 94 TGCttttttcttttttttttt 0.493 3 6 --- --- --- --- HCG9 10255 broad.mit.edu 37 6 29945375 29945376 + RNA INS - - T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr6:29945375_29945376insT ENST00000376800.3 + 0 406 TTTACCAAAGCTTTTTTTTCTC 0.322 2 4 --- --- --- --- LINC00243 401247 broad.mit.edu 37 6 30798144 30798145 + RNA DEL TG TG - rs34860577 TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr6:30798144_30798145delTG ENST00000399196.1 - 0 145 TCCCCACTGTTGTGTGTGTGGG 0.535 4 3 --- --- --- --- CLIC1 1192 broad.mit.edu 37 6 31701701 31701702 + Frame_Shift_Ins INS - - C rs1049227 TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr6:31701701_31701702insC ENST00000375780.2 - 4 758_759 c.186_187insG c.(184-189)ggagctfs p.A63fs CLIC1_ENST00000375784.3_Frame_Shift_Ins_p.A63fs|CLIC1_ENST00000395892.1_Frame_Shift_Ins_p.A63fs|CLIC1_ENST00000375779.2_Frame_Shift_Ins_p.A63fs O00299 CLIC1_HUMAN chloride intracellular channel 1 63 Required for insertion into the membrane. Q -> E (in Ref. 1; AAC25675 and 3; AAD26137). signal transduction brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction protein binding|voltage-gated chloride channel activity central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1) 7 AATGGGAGCTGCCCCCCTGGGC 0.564 7 207 --- --- --- --- LOC101928516 101928516 broad.mit.edu 37 6 75147812 75147812 + RNA DEL A A - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr6:75147812delA ENST00000435946.1 + 0 193 GAGACTTCTCATTTACCTTTT 0.458 2 4 --- --- --- --- TARID 100507308 broad.mit.edu 37 6 134032763 134032763 + RNA DEL C C - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr6:134032763delC ENST00000607033.1 - 0 623 RP3-323P13.2_ENST00000606544.1_RNA|RP3-323P13.2_ENST00000606292.1_RNA|RP3-323P13.2_ENST00000607573.1_RNA ctccccatttcccccctcagc 0.373 2 4 --- --- --- --- RP3-466P17.1 0 broad.mit.edu 37 6 146058257 146058258 + RNA DEL TC TC - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr6:146058257_146058258delTC ENST00000603994.1 + 0 1552_1553 RP3-466P17.2_ENST00000603042.1_lincRNA GTTGTGTGCTTCCCAAATGGCA 0.470 2 4 --- --- --- --- NPSR1-AS1 404744 broad.mit.edu 37 7 34613631 34613631 + RNA DEL T T - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr7:34613631delT ENST00000419766.1 - 0 160 NR_033664.1|NR_033665.1 TATGAAGCAATTTTTTCCCCT 0.383 2 4 --- --- --- --- TYW1B 441250 broad.mit.edu 37 7 72048663 72048664 + RNA INS - - A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr7:72048663_72048664insA ENST00000438125.1 - 0 1399 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity CAACCTCAGCCAAAAAATGTAG 0.401 2 4 --- --- --- --- TYW1B 441250 broad.mit.edu 37 7 72195695 72195696 + RNA INS - - A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr7:72195695_72195696insA ENST00000438125.1 - 0 696 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity ggaggcgtaggaaaaaaagcct 0.450 2 4 --- --- --- --- ZAN 7455 broad.mit.edu 37 7 100366360 100366360 + RNA DEL G G - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr7:100366360delG ENST00000542585.1 + 0 5301 ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_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) CTGGGGGTCAGGGGAGCCAGG 0.647 2 4 --- --- --- --- RELN 5649 broad.mit.edu 37 7 103629671 103629671 + Frame_Shift_Del DEL C C - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr7:103629671delC ENST00000424685.2 - 1 292 c.133delG c.(133-135)agfs p.E45fs RELN_ENST00000428762.1_Frame_Shift_Del_p.E45fs|RELN_ENST00000343529.5_Frame_Shift_Del_p.E45fs P78509 RELN_HUMAN reelin 45 Reelin. axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CCTTCCAGCTCCCCGTGGTGG 0.627 12 47 --- --- --- --- RP5-921G16.1 0 broad.mit.edu 37 7 123719980 123719980 + RNA DEL T T - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr7:123719980delT ENST00000484322.1 + 0 168 ctgctgcttcttttttttttg 0.398 2 4 --- --- --- --- C7orf13 129790 broad.mit.edu 37 7 156307047 156307048 + RNA INS - - GG rs112661643 by1000genomes TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr7:156307047_156307048insGG ENST00000447933.1 - 0 300 aagctATGGGTGTGTGTGTGTG 0.475 2 4 --- --- --- --- RP11-459E5.1 0 broad.mit.edu 37 8 22551580 22551581 + RNA INS - - GG TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr8:22551580_22551581insGG ENST00000523627.1 + 0 164 CGCGCAGGGTTGGGGGGGTGTT 0.589 2 4 --- --- --- --- LOC102724623 102724623 broad.mit.edu 37 8 64862611 64862612 + RNA INS - - C TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr8:64862611_64862612insC ENST00000524360.1 - 0 195 RP11-32K4.1_ENST00000521958.1_RNA|RP11-32K4.1_ENST00000523191.1_RNA ACTGATTCTGACCCCCCCATAA 0.332 2 4 --- --- --- --- LINC01111 101926978 broad.mit.edu 37 8 77408080 77408080 + RNA DEL T T - rs34551593 TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr8:77408080delT ENST00000518732.1 + 0 332 ZFHX4-AS1_ENST00000522961.1_RNA ctactcctgcttttttttttt 0.289 2 4 --- --- --- --- LOC101927040 101927040 broad.mit.edu 37 8 80717757 80717757 + RNA DEL A A - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr8:80717757delA ENST00000502766.2 - 0 349 ctatgaggttaaaaaaaaagg 0.398 2 4 --- --- --- --- RP11-122C21.1 0 broad.mit.edu 37 8 92678274 92678274 + RNA DEL A A - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr8:92678274delA ENST00000518416.1 - 0 415 AGTAATTTTTAAGGATATGCA 0.299 4 3 --- --- --- --- FLJ46284 441369 broad.mit.edu 37 8 93776922 93776923 + RNA INS - - A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr8:93776922_93776923insA ENST00000504861.2 - 0 140 RP11-100L22.2_ENST00000521148.1_RNA NR_046114.1 acagaattgagaaaaaaaaaaa 0.356 3 4 --- --- --- --- RP11-1084E5.1 0 broad.mit.edu 37 8 109989327 109989327 + RNA DEL T T - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr8:109989327delT ENST00000522244.1 - 0 264 GTCCAAGGAATTTGGGAAATA 0.403 2 4 --- --- --- --- RP11-3G20.1 0 broad.mit.edu 37 8 122684145 122684146 + RNA INS - - A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr8:122684145_122684146insA ENST00000518922.1 - 0 280_281 AGGCTTTCTTCAAAAACGGAAA 0.416 2 4 --- --- --- --- RP11-89K10.1 0 broad.mit.edu 37 8 127628733 127628736 + RNA DEL TCCT TCCT - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr8:127628733_127628736delTCCT ENST00000519880.1 + 0 156 RP11-89K10.1_ENST00000517915.1_RNA|RP11-89K10.1_ENST00000520512.1_RNA|RP11-89K10.1_ENST00000517773.1_RNA tttccttccctccttccttccttc 0.373 4 5 --- --- --- --- CASC8 727677 broad.mit.edu 37 8 128465856 128465858 + RNA DEL AAG AAG - rs60735771 TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr8:128465856_128465858delAAG ENST00000502082.1 - 0 1041 CASC8_ENST00000502056.1_RNA AAAAAAAAAAAAGCGTACTCCCA 0.365 2 4 --- --- --- --- LOC401478 401478 broad.mit.edu 37 8 138955940 138955941 + RNA INS - - T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr8:138955940_138955941insT ENST00000518973.1 - 0 514 TCCCAGAACTGTTTTTGAATGG 0.490 2 4 --- --- --- --- LOC401478 401478 broad.mit.edu 37 8 139043525 139043526 + RNA DEL AT AT - rs149929011 TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr8:139043525_139043526delAT ENST00000518973.1 - 0 514 atacatatacatatatatatac 0.257 2 4 --- --- --- --- MROH5 389690 broad.mit.edu 37 8 142477454 142477463 + RNA DEL CCTGGCCCTT CCTGGCCCTT - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr8:142477454_142477463delCCTGGCCCTT ENST00000430863.1 - 0 2403 NM_207414.2 NP_997297.2 maestro heat-like repeat family member 5 CCCTCCGCCCcctggcccttcctggccctt 0.671 5 8 --- --- --- --- LOC101928438 101928438 broad.mit.edu 37 9 102483511 102483512 + RNA INS - - A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr9:102483511_102483512insA ENST00000427039.1 - 0 190 acaccacatccaaaaaaaccca 0.347 2 4 --- --- --- --- RP11-308N19.1 0 broad.mit.edu 37 9 109084026 109084027 + RNA INS - - T rs151143116 by1000genomes TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr9:109084026_109084027insT ENST00000435485.1 + 0 171 CTGGAAGCACATTTTTTTTTAA 0.401 3 3 --- --- --- --- RP11-343J18.2 0 broad.mit.edu 37 9 128887448 128887448 + RNA DEL A A - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr9:128887448delA ENST00000441473.1 + 0 235 ccattattggaacgctaagca 0.473 2 4 --- --- --- --- ZNF32-AS3 414201 broad.mit.edu 37 10 44131796 44131797 + RNA INS - - T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr10:44131796_44131797insT ENST00000458063.1 + 0 162 NR_038867.1 tgatcatgtggtttttgtcttt 0.332 2 4 --- --- --- --- LINC00842 643650 broad.mit.edu 37 10 47147408 47147409 + RNA INS - - C TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr10:47147408_47147409insC ENST00000422732.2 - 0 435 NR_033957.1 aaacaaaacaacccccccaaac 0.406 2 4 --- --- --- --- ZNF503 84858 broad.mit.edu 37 10 77040314 77040315 + RNA DEL GT GT - rs72205518 TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr10:77040314_77040315delGT ENST00000418818.2 - 0 253 gtgtgtatgcgtgtgtgtgtgt 0.460 3 5 --- --- --- --- LINC01520 101929684 broad.mit.edu 37 10 87226375 87226376 + RNA INS - - A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr10:87226375_87226376insA ENST00000441457.1 + 0 1208 ataaaaagatgaaaaaaagatg 0.332 2 4 --- --- --- --- RP11-452K12.7 0 broad.mit.edu 37 10 99174805 99174805 + RNA DEL A A - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr10:99174805delA ENST00000422848.1 + 0 259 accttatctcaaaaaaaaaaa 0.488 4 7 --- --- --- --- RP11-98J9.1 0 broad.mit.edu 37 11 13828708 13828709 + RNA INS - - G TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr11:13828708_13828709insG ENST00000531749.1 + 0 188 ggggtgaggaagggggagggag 0.416 2 4 --- --- --- --- SPON1 10418 broad.mit.edu 37 11 14253352 14253352 + RNA DEL A A - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr11:14253352delA ENST00000310358.7 + 0 1360 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) AGCAATGTCTAAAAAAAAAAG 0.294 3 3 --- --- --- --- RP11-396O20.1 0 broad.mit.edu 37 11 15683166 15683166 + RNA DEL C C - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr11:15683166delC ENST00000532242.1 + 0 151 CTCTAACTTTCCCCCAGGACT 0.507 2 4 --- --- --- --- PLEKHA7 144100 broad.mit.edu 37 11 16876505 16876505 + Frame_Shift_Del DEL C C - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr11:16876505delC ENST00000355661.3 - 6 463 c.453delG c.(451-453)ggfs p.G151fs PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Frame_Shift_Del_p.G151fs|PLEKHA7_ENST00000448080.2_Frame_Shift_Del_p.G151fs Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A member 7 151 epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 37 GGTCTCTCTTCCCAAAGCTGT 0.493 24 97 --- --- --- --- RP11-115J23.1 0 broad.mit.edu 37 11 28856739 28856740 + RNA INS - - G TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr11:28856739_28856740insG ENST00000513853.1 + 0 304 ACgttgggggagggggggaata 0.450 2 4 --- --- --- --- PAMR1 25891 broad.mit.edu 37 11 35492305 35492305 + Frame_Shift_Del DEL C C - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr11:35492305delC ENST00000378880.2 - 5 1001 c.556delG c.(556-558)atfs p.D186fs PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000378878.3_Intron|PAMR1_ENST00000278360.3_Frame_Shift_Del_p.D186fs|PAMR1_ENST00000532848.1_Frame_Shift_Del_p.D146fs NM_001001991.1 NP_001001991.1 Q6UXH9 PAMR1_HUMAN peptidase domain containing associated with muscle regeneration 1 186 CUB. proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 26 TTGTCTCCATCACGAACCTCA 0.547 12 35 --- --- --- --- C11orf97 643037 broad.mit.edu 37 11 94246111 94246112 + RNA DEL AC AC - rs72198400 TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr11:94246111_94246112delAC ENST00000542198.1 + 0 93 AAAGGAATTAacacacacacac 0.386 4 3 --- --- --- --- RP11-108O10.2 0 broad.mit.edu 37 11 111643970 111643970 + RNA DEL T T - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr11:111643970delT ENST00000529841.1 - 0 131 CAATGGTAGAttttttttttg 0.468 3 6 --- --- --- --- USP2-AS1 100499227 broad.mit.edu 37 11 119266396 119266397 + RNA INS - - T rs111269978 by1000genomes TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr11:119266396_119266397insT ENST00000498979.2 + 0 273 USP2-AS1_ENST00000500970.1_RNA|USP2-AS1_ENST00000578923.1_RNA|USP2-AS1_ENST00000577297.1_RNA|USP2-AS1_ENST00000530002.1_RNA NR_034160.1 acacccagctattttttttttc 0.505 2 4 --- --- --- --- LOC283177 283177 broad.mit.edu 37 11 134343532 134343533 + RNA INS - - C TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr11:134343532_134343533insC ENST00000528482.2 + 0 1554 tctttgggatgccccccgccct 0.554 2 4 --- --- --- --- RP11-1038A11.3 0 broad.mit.edu 37 12 5475204 5475204 + RNA DEL T T - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr12:5475204delT ENST00000537192.1 + 0 219 gcacaaagagtttttTTTTTA 0.353 2 4 --- --- --- --- LOC102724050 102724050 broad.mit.edu 37 12 54819418 54819418 + RNA DEL T T - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr12:54819418delT ENST00000550474.1 + 0 47 RP11-753H16.5_ENST00000552785.1_RNA gggtaccctcttccagtctct 0.493 2 4 --- --- --- --- RP11-981P6.1 0 broad.mit.edu 37 12 89970358 89970358 + RNA DEL A A - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr12:89970358delA ENST00000552778.1 + 0 147 AATTGTTCATATGGGGGATTC 0.418 2 4 --- --- --- --- RP11-497G19.3 0 broad.mit.edu 37 12 117037684 117037685 + RNA INS - - C TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr12:117037684_117037685insC ENST00000550742.1 + 0 398 TCTTGGGTCCTCCCCCCACCTC 0.599 OREG0022159 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 4 --- --- --- --- ZNF664-FAM101A 100533183 broad.mit.edu 37 12 124577355 124577356 + RNA INS - - G TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr12:124577355_124577356insG ENST00000540762.1 + 0 247 atgatgatggtgtgatgatgat 0.436 2 4 --- --- --- --- NCOR2 9612 broad.mit.edu 37 12 124846815 124846816 + Frame_Shift_Ins INS - - G TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr12:124846815_124846816insG ENST00000356219.3 - 23 3108_3109 c.2953_2954insC c.(2953-2955)ggafs p.G985fs NCOR2_ENST00000397355.1_Frame_Shift_Ins_p.G969fs|NCOR2_ENST00000429285.2_Frame_Shift_Ins_p.G968fs|NCOR2_ENST00000405201.1_Frame_Shift_Ins_p.G986fs|NCOR2_ENST00000404621.1_Frame_Shift_Ins_p.G968fs|NCOR2_ENST00000404121.2_Frame_Shift_Ins_p.G539fs NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 986 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) TGCGTCCTCCCGGGGGGGCTCA 0.653 2 4 --- --- --- --- GJB6 10804 broad.mit.edu 37 13 20797249 20797249 + Frame_Shift_Del DEL T T - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr13:20797249delT ENST00000356192.6 - 5 991 c.371delA c.(370-372)cgfs p.Q124fs GJB6_ENST00000400066.3_Frame_Shift_Del_p.Q124fs|GJB6_ENST00000400065.3_Frame_Shift_Del_p.Q124fs|GJB6_ENST00000241124.6_Frame_Shift_Del_p.Q124fs NM_001110219.2 NP_001103689.1 O95452 CXB6_HUMAN gap junction protein, beta 6, 30kDa 124 Q -> H (in Ref. 1; CAA06611). cell communication|sensory perception of sound connexon complex|integral to membrane|intracellular membrane-bounded organelle biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1) 9 all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822) all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744) CCGAACCTTCTGCTTTTTAAT 0.468 20 63 --- --- --- --- LINC00457 100874179 broad.mit.edu 37 13 35033467 35033467 + RNA DEL A A - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr13:35033467delA ENST00000605909.1 + 0 170 ATATTTTTGGAAAGCCCTTAT 0.318 2 4 --- --- --- --- RP11-321C24.1 0 broad.mit.edu 37 13 45620804 45620805 + RNA INS - - T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr13:45620804_45620805insT ENST00000437748.2 - 0 159_160 TGCTTCTCAGGTTTTTCCGCCA 0.470 2 4 --- --- --- --- RNASEH2B-AS1 100874255 broad.mit.edu 37 13 51462614 51462614 + RNA DEL T T - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr13:51462614delT ENST00000596992.1 - 0 382 RNASEH2B-AS1_ENST00000594244.1_RNA|RNASEH2B-AS1_ENST00000593750.1_RNA|RNASEH2B-AS1_ENST00000454605.1_RNA|RNASEH2B-AS1_ENST00000601286.1_RNA|RNASEH2B-AS1_ENST00000593369.1_RNA GAATACACTATTTGGTTTCCC 0.348 2 4 --- --- --- --- GUCY1B2 2974 broad.mit.edu 37 13 51589121 51589122 + RNA DEL CA CA - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr13:51589121_51589122delCA ENST00000493639.2 - 0 1729 NR_003923.2 tacacacatgcacacacacaca 0.386 3 3 --- --- --- --- LINC00558 100861552 broad.mit.edu 37 13 54432786 54432786 + RNA DEL C C - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr13:54432786delC ENST00000569422.1 + 0 432 NR_047488.1 CTCAAACTTGCCCTACTACCT 0.393 2 4 --- --- --- --- RP11-223F20.2 0 broad.mit.edu 37 13 66444037 66444037 + RNA DEL G G - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr13:66444037delG ENST00000437777.1 + 0 70 cacccaggctggagagcagtg 0.423 2 4 --- --- --- --- NALCN-AS1 100885778 broad.mit.edu 37 13 101551039 101551040 + RNA INS - - T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr13:101551039_101551040insT ENST00000457843.1 + 0 141 NR_047687.1 AATTATAGGAATTTTTTTTTCC 0.356 2 4 --- --- --- --- RP11-355I22.2 0 broad.mit.edu 37 14 62573320 62573320 + RNA DEL T T - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr14:62573320delT ENST00000554252.1 - 0 228 GCCTGTCTTCTTCCACTTTGG 0.363 2 4 --- --- --- --- LINC01269 103695436 broad.mit.edu 37 14 71174167 71174168 + RNA INS - - G rs146667061 by1000genomes TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr14:71174167_71174168insG ENST00000553682.1 + 0 458 AGGCCACAGCTGGGGGGGCAGG 0.545 3 4 --- --- --- --- RP6-114E22.1 0 broad.mit.edu 37 14 72322071 72322071 + RNA DEL G G - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr14:72322071delG ENST00000555581.1 + 0 131 tctggggaatggacatattgg 0.294 2 4 --- --- --- --- RP3-514A23.2 0 broad.mit.edu 37 14 73045925 73045926 + RNA INS - - GGA rs145725826 by1000genomes TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr14:73045925_73045926insGGA ENST00000555303.1 - 0 451 CACAAGGAATCGGAGAACAAGG 0.495 3 4 --- --- --- --- RP1-240K6.3 0 broad.mit.edu 37 14 73943355 73943355 + RNA DEL T T - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr14:73943355delT ENST00000515412.2 + 0 486 AAGGGTTCAGTTAGGCTCTCT 0.483 2 4 --- --- --- --- RP11-666E17.1 0 broad.mit.edu 37 14 82490719 82490719 + RNA DEL A A - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr14:82490719delA ENST00000554814.1 + 0 315 tatacccagtaatggaattgc 0.363 2 4 --- --- --- --- LOC100128714 100128714 broad.mit.edu 37 15 26166325 26166326 + RNA DEL AC AC - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr15:26166325_26166326delAC ENST00000383019.2 + 0 207 NR_040082.1 ggtattaaagacacacacacag 0.460 2 4 --- --- --- --- LINC00927 283688 broad.mit.edu 37 15 80620779 80620780 + RNA INS - - G rs138883962 by1000genomes TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr15:80620779_80620780insG ENST00000558913.1 - 0 213 NR_033833.1 AGGGGTGCCATGGGGGGGAAGA 0.554 2 4 --- --- --- --- RP11-276M12.1 0 broad.mit.edu 37 15 82282388 82282388 + RNA DEL T T - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr15:82282388delT ENST00000559299.1 - 0 240 aacttattcattttattatga 0.358 2 4 --- --- --- --- RP11-420N3.2 0 broad.mit.edu 37 16 5925245 5925245 + RNA DEL A A - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr16:5925245delA ENST00000569895.1 + 0 436 tgttacagacaaaaaaactga 0.423 2 4 --- --- --- --- RP11-67H24.2 0 broad.mit.edu 37 16 32828380 32828381 + RNA INS - - T rs148268914 by1000genomes TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr16:32828380_32828381insT ENST00000569859.1 + 0 373 agcatctgtggtttgttaggtc 0.337 3 5 --- --- --- --- RP11-467L24.1 0 broad.mit.edu 37 16 64511545 64511546 + RNA DEL CA CA - rs74264159 TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr16:64511545_64511546delCA ENST00000564046.1 + 0 243 CTCTCTCTCTcacacacacaca 0.480 3 4 --- --- --- --- LINC00922 283867 broad.mit.edu 37 16 65508716 65508717 + RNA INS - - G TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr16:65508716_65508717insG ENST00000569736.1 - 0 217 NR_027755.1 AGAGTTATTATGGGGGGGTGCT 0.455 2 4 --- --- --- --- AC009120.6 0 broad.mit.edu 37 16 74349703 74349703 + RNA DEL C C - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr16:74349703delC ENST00000565313.1 - 0 47 AC009120.6_ENST00000561921.1_RNA ttctttcctacctttttttaa 0.373 2 4 --- --- --- --- CCDC144NL-AS1 440416 broad.mit.edu 37 17 20846129 20846129 + RNA DEL G G - rs71160106 TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr17:20846129delG ENST00000582583.1 + 0 123 RP11-344E13.3_ENST00000423473.2_RNA|RP11-344E13.3_ENST00000437829.1_RNA|RP11-344E13.3_ENST00000580056.1_RNA|RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000433763.2_RNA|RP11-344E13.3_ENST00000583481.1_RNA gtcctgcactgggggaaaaag 0.363 3 3 --- --- --- --- LOC100505782 100505782 broad.mit.edu 37 17 39571232 39571232 + RNA DEL A A - rs34649891 TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr17:39571232delA ENST00000432258.1 + 0 2194 cctgggtgacaaaAAAAAAAA 0.507 2 4 --- --- --- --- RP11-429O1.1 0 broad.mit.edu 37 17 50593940 50593940 + RNA DEL A A - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr17:50593940delA ENST00000572848.1 + 0 76 TATGACTCCTAGAGAAATTAC 0.458 2 4 --- --- --- --- CASC17 101928165 broad.mit.edu 37 17 69153033 69153033 + RNA DEL G G - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr17:69153033delG ENST00000569074.1 - 0 134 aagccaatatgattatttaaa 0.294 2 4 --- --- --- --- CASC17 101928165 broad.mit.edu 37 17 69169970 69169971 + RNA INS - - C TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr17:69169970_69169971insC ENST00000569074.1 - 0 134 TTAAATGATATCCCCGTGCTGA 0.386 2 4 --- --- --- --- MRPS7 51081 broad.mit.edu 37 17 73258564 73258565 + Frame_Shift_Ins INS - - C TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr17:73258564_73258565insC ENST00000579002.1 + 1 572_573 c.157_158insC c.(157-159)cccfs p.P53fs MRPS7_ENST00000579761.1_Intron|MRPS7_ENST00000245539.6_Intron Q9Y2R9 RT07_HUMAN mitochondrial ribosomal protein S7 0 translation cytosolic small ribosomal subunit|mitochondrion protein binding|RNA binding|structural constituent of ribosome breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2) 6 all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07) all cancers(21;3.02e-07)|Epithelial(20;2.92e-06) CCTCCTCCTTTCCCCCCCTCCC 0.554 7 184 --- --- --- --- KC6 641516 broad.mit.edu 37 18 39067810 39067810 + RNA DEL A A - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr18:39067810delA ENST00000592302.1 - 0 507 NR_002838.1 tgtaatgtttacctccctgtg 0.473 4 5 --- --- --- --- LOC643542 643542 broad.mit.edu 37 18 65456231 65456231 + RNA DEL C C - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr18:65456231delC ENST00000583687.1 + 0 204 NR_033921.1 TTCTGTCCTGCCCTGGGCCAC 0.607 2 4 --- --- --- --- RP11-421N8.2 0 broad.mit.edu 37 18 65930817 65930818 + RNA INS - - C TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr18:65930817_65930818insC ENST00000581844.1 - 0 46_47 tgtgctttcctcccccacacct 0.505 2 4 --- --- --- --- CTC-459F4.5 0 broad.mit.edu 37 19 28363509 28363509 + RNA DEL G G - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr19:28363509delG ENST00000589471.1 - 0 118 tgatgatggtgatgatgatga 0.403 2 4 --- --- --- --- CTC-439O9.3 0 broad.mit.edu 37 19 31682501 31682502 + RNA INS - - T TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr19:31682501_31682502insT ENST00000589511.1 + 0 223 tataaaagacatttttaatttc 0.436 2 4 --- --- --- --- LOC400684 400684 broad.mit.edu 37 19 32882998 32882998 + RNA DEL A A - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr19:32882998delA ENST00000592680.1 - 0 667 NR_046201.1 agagaaagagaaaaaaaaaaa 0.498 2 4 --- --- --- --- TGM3 7053 broad.mit.edu 37 20 2298023 2298023 + Frame_Shift_Del DEL G G - rs146568830 by1000genomes TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr20:2298023delG ENST00000381458.5 + 7 938 c.875delG c.(874-876)cgfs p.R292fs TGM3_ENST00000463090.1_3'UTR NM_003245.3 NP_003236.3 Q08188 TGM3_HUMAN transglutaminase 3 292 cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization cytoplasm|extrinsic to internal side of plasma membrane acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 39 L-Glutamine(DB00130) ATTCCTTCCCGGGTGATCACC 0.567 27 96 --- --- --- --- RP4-610C12.1 0 broad.mit.edu 37 20 29585451 29585452 + RNA INS - - C rs73605368 TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr20:29585451_29585452insC ENST00000432067.1 - 0 152 ATCAACCATTTCCCATGTCCCT 0.421 4 3 --- --- --- --- C20orf112 140688 broad.mit.edu 37 20 31041555 31041556 + Frame_Shift_Ins INS - - G TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr20:31041555_31041556insG ENST00000359676.5 - 4 538_539 c.396_397insC c.(394-399)ccacagfs p.Q133fs C20orf112_ENST00000475781.1_5'UTR NM_001256798.1|NM_080616.4 NP_001243727.1|NP_542183.2 Q96MY1 CT112_HUMAN chromosome 20 open reading frame 112 133 endometrium(3)|kidney(2)|large_intestine(5)|lung(5) 15 CCAGAGCTGTAGGGGGGGGACT 0.634 3 6 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11096512 11096516 + RNA DEL GTTTT GTTTT - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr21:11096512_11096516delGTTTT ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ccATTTTTAAgttttgttttgtttt 0.493 4 2 --- --- --- --- AP001347.6 0 broad.mit.edu 37 21 15405594 15405595 + RNA INS - - A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr21:15405594_15405595insA ENST00000428809.1 + 0 177 TATTTCATATGTCATTAGAAAA 0.391 2 4 --- --- --- --- AP000476.1 0 broad.mit.edu 37 21 25806085 25806088 + RNA DEL AAAT AAAT - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr21:25806085_25806088delAAAT ENST00000453784.2 + 0 165 tccctaccaaaaataaataaataa 0.412 2 4 --- --- --- --- LOC339622 339622 broad.mit.edu 37 21 26410160 26410161 + RNA INS - - A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr21:26410160_26410161insA ENST00000441009.1 + 0 406 NR_046198.3 TAAATTACACCAAAAACATTTG 0.431 2 4 --- --- --- --- BACH1 571 broad.mit.edu 37 21 30730426 30730426 + RNA DEL A A - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr21:30730426delA ENST00000504298.1 + 0 265 NR_027655.1 GGGGAGAAGGAGGGCCCCTGG 0.532 2 4 --- --- --- --- AP000318.2 0 broad.mit.edu 37 21 35604133 35604134 + RNA INS - - G TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr21:35604133_35604134insG ENST00000427022.1 + 0 311 AGTAAAATGTTGGGGGGCAGgg 0.530 2 4 --- --- --- --- RFPL1S 10740 broad.mit.edu 37 22 29846987 29846988 + RNA INS - - A TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chr22:29846987_29846988insA ENST00000461286.2 - 0 258 NR_002727.2 gatcctgtctcaaaaaaaaaTT 0.475 3 3 --- --- --- --- CA5BP1 340591 broad.mit.edu 37 X 15710376 15710376 + RNA DEL T T - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chrX:15710376delT ENST00000380334.2 + 0 225 Cttttttttcttttttttttt 0.403 3 3 --- --- --- --- PTCHD1-AS 100873065 broad.mit.edu 37 X 22639040 22639040 + RNA DEL C C - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chrX:22639040delC ENST00000455399.1 - 0 312 CTCATACCTACCACAGTATCT 0.443 2 4 --- --- --- --- RP1-154K9.2 0 broad.mit.edu 37 X 42536319 42536319 + RNA DEL A A - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chrX:42536319delA ENST00000411879.1 + 0 676 agctttggacaaaaaaacctg 0.443 2 4 --- --- --- --- GS1-256O22.5 0 broad.mit.edu 37 X 142469806 142469806 + RNA DEL T T - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chrX:142469806delT ENST00000431432.1 + 0 176 gctgaaggactttttggccaa 0.358 2 4 --- --- --- --- GS1-256O22.5 0 broad.mit.edu 37 X 142552752 142552753 + RNA DEL GT GT - TCGA-17-Z025-01A-01W-0746-08 TCGA-17-Z025-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99eab29e-32d3-49d5-aa30-56de8be556e7 e77e7ede-a75b-457f-a132-7120368a422b g.chrX:142552752_142552753delGT ENST00000431432.1 + 0 268 AAGATTAAGAGTGTGTGTGTGT 0.347 3 3 --- --- --- ---