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 MAGEC1 9947 broad.mit.edu 37 X 140995522 140995522 + Missense_Mutation SNP C C A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chrX:140995522C>A ENST00000285879.4 + 4 2618 c.2332C>A c.(2332-2334)Cct>Act p.P778T MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 778 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) TCTCCAGAGACCTGTCAGCTC 0.557000 HNSCC(15;0.026) 74 232 9.25274e-37 1.4748e-36 0.139131 1 0 TAF1L 138474 broad.mit.edu 37 9 32630458 32630458 + Missense_Mutation SNP C C G TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr9:32630458C>G ENST00000242310.4 - 1 5209 c.5120G>C c.(5119-5121)gGc>gCc p.G1707A NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 1707 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) CCTACCTTGGCCCTGGCACAT 0.507000 26 133 0 0 0.050027 0 0 OR5R1 219479 broad.mit.edu 37 11 56185534 56185534 + Missense_Mutation SNP T T A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr11:56185534T>A ENST00000312253.1 - 1 174 c.175A>T c.(175-177)Atg>Ttg p.M59L NM_001004744.1 NP_001004744.1 Q8NH85 OR5R1_HUMAN olfactory receptor, family 5, subfamily R, member 1 59 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(21;0.00448) AAATAGTACATAGGTGTGTGG 0.438000 27 102 0 0 0.144211 0 0 PDCL3 79031 broad.mit.edu 37 2 101183005 101183005 + Missense_Mutation SNP A A G TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr2:101183005A>G ENST00000264254.6 + 2 425 c.47A>G c.(46-48)aAa>aGa p.K16R NM_024065.4 NP_076970.1 Q9H2J4 PDCL3_HUMAN phosducin-like 3 16 apoptosis|interspecies interaction between organisms cytoplasm protein binding endometrium(3)|large_intestine(2)|liver(1)|lung(6) 12 ATCTTACGCAAAAAGGGTATC 0.512000 14 18 0 0 0.033300 0 0 CAPN10 11132 broad.mit.edu 37 2 241528836 241528836 + Missense_Mutation SNP G G A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr2:241528836G>A ENST00000391984.2 + 2 414 c.218G>A c.(217-219)tGc>tAc p.C73Y CAPN10_ENST00000404753.3_Missense_Mutation_p.C73Y|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000391982.2_Missense_Mutation_p.C73Y|CAPN10_ENST00000354082.4_Missense_Mutation_p.C73Y|CAPN10_ENST00000270364.7_Missense_Mutation_p.C73Y NM_023083.3 NP_075571.1 Q9HC96 CAN10_HUMAN calpain 10 73 Calpain catalytic. actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis cytosol|plasma membrane calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1) 27 all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032) CTGGGGGATTGCTGGTTCCTG 0.607000 8 35 0 0 0.058154 0 0 IGSF1 3547 broad.mit.edu 37 X 130415733 130415733 + Missense_Mutation SNP C C T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chrX:130415733C>T ENST00000370904.1 - 14 2315 c.1405G>A c.(1405-1407)Ggc>Agc p.G469S IGSF1_ENST00000370903.3_Missense_Mutation_p.G478S|IGSF1_ENST00000370910.1_Missense_Mutation_p.G469S|IGSF1_ENST00000361420.3_Missense_Mutation_p.G478S Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 478 Ig-like C2-type 5. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 GTCCCTGTGCCTTTCCCGTCA 0.478000 24 87 0 0 0.083992 0 0 PCDHGA3 56112 broad.mit.edu 37 5 140723843 140723843 + Missense_Mutation SNP C C G rs143610564 by1000genomes TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr5:140723843C>G ENST00000253812.6 + 1 243 c.243C>G c.(241-243)agC>agG p.S81R PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATCCGCAAAGCGGCAGCTTGG 0.577000 20 47 0 0 0.076483 0 0 IPP 3652 broad.mit.edu 37 1 46179937 46179937 + Missense_Mutation SNP T T C TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr1:46179937T>C ENST00000396478.3 - 8 1613 c.1511A>G c.(1510-1512)gAa>gGa p.E504G NM_005897.2 NP_005888.1 Q9Y573 IPP_HUMAN intracisternal A particle-promoted polypeptide 504 actin cytoskeleton|cytoplasm actin binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2) 20 Acute lymphoblastic leukemia(166;0.155) GGAATATTTTTCTACAGTATG 0.393000 14 53 0 0 0.132662 0 0 LAIR1 3903 broad.mit.edu 37 19 54868136 54868136 + Missense_Mutation SNP G G A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr19:54868136G>A ENST00000391743.3 - 5 773 c.493C>T c.(493-495)Ctc>Ttc p.L165F LAIR1_ENST00000474878.1_Missense_Mutation_p.L165F|LAIR1_ENST00000313038.6_Missense_Mutation_p.L176F|LAIR1_ENST00000463489.1_5'UTR|LAIR1_ENST00000348231.4_Missense_Mutation_p.L166F|LAIR1_ENST00000391742.2_Missense_Mutation_p.L183F|LAIR1_ENST00000434277.2_Missense_Mutation_p.L182F Q6GTX8 LAIR1_HUMAN leukocyte-associated immunoglobulin-like receptor 1 183 integral to membrane|plasma membrane protein binding|receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3) 26 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0573) AGGCAGAAGAGGACCAGGAGG 0.542000 12 47 0 0 0.105934 0 0 MAPK8IP1 9479 broad.mit.edu 37 11 45924191 45924191 + Silent SNP C C T rs138625751 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr11:45924191C>T ENST00000395629.2 + 5 1173 c.843C>T c.(841-843)gaC>gaT p.D281D MAPK8IP1_ENST00000241014.2_Silent_p.D291D Q9UQF2 JIP1_HUMAN mitogen-activated protein kinase 8 interacting protein 1 291 JNK-binding domain (JBD). vesicle-mediated transport nucleus|perinuclear region of cytoplasm kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2) 24 GBM - Glioblastoma multiforme(35;0.231) GGCCCCCAGACGCTGCAGAGC 0.672000 7 15 0 0 0.038147 0 0 NUGGC 389643 broad.mit.edu 37 8 27925799 27925799 + Silent SNP G G A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr8:27925799G>A ENST00000413272.2 - 5 556 c.414C>T c.(412-414)tgC>tgT p.C138C NUGGC_ENST00000341513.6_Silent_p.C138C NM_001010906.1 NP_001010906.1 nuclear GTPase, germinal center associated CTTGTACAATGCAGGAAGTAC 0.498000 3 13 0 0 0.115264 0 0 CLCA4 22802 broad.mit.edu 37 1 87041215 87041215 + Missense_Mutation SNP T T A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr1:87041215T>A ENST00000370563.3 + 11 1926 c.1884T>A c.(1882-1884)aaT>aaA p.N628K RP4-651E10.4_ENST00000456587.1_RNA NM_012128.3 NP_036260.2 Q14CN2 CLCA4_HUMAN chloride channel accessory 4 628 apical plasma membrane|extracellular region|integral to plasma membrane chloride channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 Lung NSC(277;0.238) all cancers(265;0.0202)|Epithelial(280;0.0404) TTGGAGCCAATGTGACTGCTT 0.373000 26 87 0 0 0.108266 0 0 GART 2618 broad.mit.edu 37 21 34877985 34877985 + Missense_Mutation SNP T T A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr21:34877985T>A ENST00000381831.3 - 20 2871 c.2608A>T c.(2608-2610)Aat>Tat p.N870Y GART_ENST00000381815.4_Missense_Mutation_p.N870Y|GART_ENST00000543717.1_Missense_Mutation_p.N422Y|GART_ENST00000381839.3_Missense_Mutation_p.N870Y NM_001136005.1 NP_001129477.1 P22102 PUR2_HUMAN phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase 870 GART. 'de novo' IMP biosynthetic process|purine base biosynthetic process cytosol ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1) 31 Pemetrexed(DB00642) TCTACACGATTTTTATACAGT 0.333000 5 14 0 0 0.014758 0 0 PORCN 64840 broad.mit.edu 37 X 48374534 48374534 + Splice_Site SNP G G C TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chrX:48374534G>C ENST00000367574.4 + 11 1432 c.927_splice c.e11+1 p.L309_splice PORCN_ENST00000359882.4_Splice_Site_p.L385_splice|PORCN_ENST00000355092.3_Splice_Site_p.L385_splice|PORCN_ENST00000355961.4_Splice_Site_p.L386_splice|PORCN_ENST00000537758.1_Splice_Site_p.L391_splice|PORCN_ENST00000361988.3_Splice_Site_p.L380_splice|PORCN_ENST00000326194.6_Splice_Site_p.L391_splice Q9H237 PORCN_HUMAN porcupine homolog (Drosophila) 391 Wnt receptor signaling pathway endoplasmic reticulum membrane|integral to membrane acyltransferase activity breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 AGCATCGCTTGGTGAGGGTTC 0.567000 7 23 0 0 0.080935 0 0 OR13C3 138803 broad.mit.edu 37 9 107298670 107298670 + Missense_Mutation SNP C C T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr9:107298670C>T ENST00000374781.2 - 1 467 c.425G>A c.(424-426)tGt>tAt p.C142Y NM_001001961.1 NP_001001961.1 Q8NGS6 O13C3_HUMAN olfactory receptor, family 13, subfamily C, member 3 142 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1) 19 AAGAAGCAGACATTCTGTTGA 0.458000 68 192 0 0 0.139131 0 0 C2orf78 388960 broad.mit.edu 37 2 74043608 74043608 + Missense_Mutation SNP G G A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr2:74043608G>A ENST00000409561.1 + 3 2379 c.2258G>A c.(2257-2259)cGa>cAa p.R753Q NM_001080474.1 NP_001073943.1 A6NCI8 CB078_HUMAN chromosome 2 open reading frame 78 753 cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1) 34 TACCCTGCTCGACCTGATTCT 0.552000 7 168 0 0 0.047766 0 0 TRBV7-4 28594 broad.mit.edu 37 7 142176589 142176589 + RNA SNP G G C TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr7:142176589G>C ENST00000390369.2 - 0 86 TTGCGACTTTGTACCTTGGGG 0.488000 35 71 0 0 0.074837 0 0 STRA6 64220 broad.mit.edu 37 15 74473151 74473151 + Missense_Mutation SNP G G T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr15:74473151G>T ENST00000323940.5 - 18 2057 c.1812C>A c.(1810-1812)gaC>gaA p.D604E STRA6_ENST00000563965.1_Missense_Mutation_p.D643E|STRA6_ENST00000574278.1_Missense_Mutation_p.D619E|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000535552.1_Missense_Mutation_p.D641E|STRA6_ENST00000395105.4_Missense_Mutation_p.D604E|STRA6_ENST00000449139.2_Missense_Mutation_p.D604E|STRA6_ENST00000423167.2_Missense_Mutation_p.D595E|STRA6_ENST00000416286.3_Missense_Mutation_p.D596E NM_001142617.1|NM_001142618.1|NM_001142619.1 NP_001136089.1|NP_001136090.1|NP_001136091.1 Q9BX79 STRA6_HUMAN stimulated by retinoic acid 6 604 adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning integral to membrane|plasma membrane|protein complex receptor activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2) 26 GTCTGAGGCTGTCCTGGGGGG 0.617000 9 29 6.40141e-05 7.12781e-05 0.080935 1 0 ERBB2IP 55914 broad.mit.edu 37 5 65350250 65350250 + Missense_Mutation SNP A A T rs137933401 byFrequency TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr5:65350250A>T ENST00000284037.5 + 21 3493 c.3104A>T c.(3103-3105)aAt>aTt p.N1035I ERBB2IP_ENST00000380943.2_Missense_Mutation_p.N1035I|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.N1035I|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.N1035I|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.N1035I|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.N1035I|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.N1031I|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.N1035I|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.N1035I NM_001253697.1 NP_001240626.1 Q96RT1 LAP2_HUMAN erbb2 interacting protein 1035 basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization basement membrane|cytoplasm|hemidesmosome|nucleus ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2) 36 Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191) AATCATAACAATGTTCGAGCT 0.428000 28 73 0 0 0.116897 0 0 PAX2 5076 broad.mit.edu 37 10 102568895 102568895 + Missense_Mutation SNP C C A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr10:102568895C>A ENST00000370296.2 + 8 1440 c.890C>A c.(889-891)aCc>aAc p.T297N PAX2_ENST00000361791.3_Missense_Mutation_p.T274N|PAX2_ENST00000355243.3_Missense_Mutation_p.T274N|PAX2_ENST00000556085.1_Missense_Mutation_p.T273N|PAX2_ENST00000428433.1_Missense_Mutation_p.T297N Q02962 PAX2_HUMAN paired box 2 297 anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception centriolar satellite|nucleus|protein complex|protein-DNA complex core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 18 Colorectal(252;0.234) Epithelial(162;1.32e-08)|all cancers(201;7.32e-07) CCAGCCCTGACCCCTGGGCTT 0.562000 14 39 2.23348e-06 2.60712e-06 0.146539 1 0 IFNA14 3448 broad.mit.edu 37 9 21239770 21239770 + Missense_Mutation SNP G G C TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr9:21239770G>C ENST00000380222.2 - 1 208 c.165C>G c.(163-165)gaC>gaG p.D55E NM_002172.2 NP_002163.2 P01570 IFN14_HUMAN interferon, alpha 14 55 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7) 11 Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) AGTCATGTCTGTCCTTCAGGC 0.478000 24 80 0 0 0.091800 0 0 ZNF845 91664 broad.mit.edu 37 19 53856702 53856702 + Missense_Mutation SNP G G A rs150688663 by1000genomes TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr19:53856702G>A ENST00000458035.1 + 4 2891 c.2774G>A c.(2773-2775)cGt>cAt p.R925H ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 925 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R925H(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 AAAACCTTCCGTCACAATTCA 0.363000 3 25 0 0 0.115264 0 0 GRK4 2868 broad.mit.edu 37 4 2990509 2990509 + Missense_Mutation SNP G G T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr4:2990509G>T ENST00000398052.4 + 3 547 c.204G>T c.(202-204)agG>agT p.R68S GRK4_ENST00000345167.6_Missense_Mutation_p.R36S|GRK4_ENST00000398051.4_Missense_Mutation_p.R36S|GRK4_ENST00000504933.1_Missense_Mutation_p.R68S NM_182982.2 NP_892027.2 P32298 GRK4_HUMAN G protein-coupled receptor kinase 4 68 N-terminal.|RGS. cell cortex ATP binding|G-protein coupled receptor kinase activity|signal transducer activity lung(1)|upper_aerodigestive_tract(1) 2 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GTCTCTTCAGGCAGTTCTGTG 0.418000 10 55 5.16669e-11 6.84531e-11 0.080935 1 0 AP4E1 23431 broad.mit.edu 37 15 51293309 51293309 + Missense_Mutation SNP C C G TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr15:51293309C>G ENST00000261842.5 + 20 3288 c.3182C>G c.(3181-3183)tCt>tGt p.S1061C AP4E1_ENST00000560508.1_Missense_Mutation_p.S986C|AP4E1_ENST00000561397.1_3'UTR NM_001252127.1|NM_007347.4 NP_001239056.1|NP_031373.2 Q9UPM8 AP4E1_HUMAN adaptor-related protein complex 4, epsilon 1 subunit 1061 intracellular protein transport|vesicle-mediated transport COPI vesicle coat binding|structural molecule activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2) 27 all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364) ATGTCAGAATCTCAAGCTGCA 0.338000 36 61 0 0 0.086207 0 0 CLEC4A 50856 broad.mit.edu 37 12 8288251 8288251 + Silent SNP A A G TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr12:8288251A>G ENST00000229332.5 + 4 616 c.369A>G c.(367-369)gaA>gaG p.E123E CLEC4A_ENST00000352620.3_Silent_p.E90E|CLEC4A_ENST00000345999.3_Silent_p.E51E|CLEC4A_ENST00000360500.3_Silent_p.E84E NM_016184.3|NM_194447.2|NM_194450.2 NP_057268.1|NP_919429.2|NP_919432.1 Q9UMR7 CLC4A_HUMAN C-type lectin domain family 4, member A 123 C-type lectin. cell adhesion|cell surface receptor linked signaling pathway|innate immune response integral to plasma membrane sugar binding|transmembrane receptor activity cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1) 11 Kidney(36;0.0915) TTTCTACTGAATCAGCATCTT 0.443000 36 61 0 0 0.117977 0 0 IGKV3D-20 28874 broad.mit.edu 37 2 90078162 90078162 + RNA SNP C C A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr2:90078162C>A ENST00000390270.2 + 0 296 GGCGCCCAGGCTCCTCATCTA 0.597000 30 101 9.78485e-24 1.49148e-23 0.054565 1 0 CD34 947 broad.mit.edu 37 1 208072370 208072370 + Missense_Mutation SNP G G A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr1:208072370G>A ENST00000356522.4 - 3 785 c.464C>T c.(463-465)aCa>aTa p.T155I CD34_ENST00000537704.1_Intron|CD34_ENST00000310833.7_Missense_Mutation_p.T155I|CD34_ENST00000485761.1_5'UTR NM_001773.2 NP_001764.1 P28906 CD34_HUMAN CD34 molecule 155 cell-cell adhesion|leukocyte migration|regulation of immune response integral to membrane carbohydrate binding kidney(2)|large_intestine(2)|lung(8)|ovary(1) 13 AGTGGGAGATGTTGCAAGGCT 0.473000 48 199 0 0 0.139131 0 0 TRPM2 7226 broad.mit.edu 37 21 45784063 45784063 + Silent SNP C C G TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr21:45784063C>G ENST00000397928.1 + 3 766 c.321C>G c.(319-321)acC>acG p.T107T TRPM2_ENST00000300481.9_Silent_p.T107T|TRPM2_ENST00000397932.2_Silent_p.T107T|TRPM2_ENST00000300482.5_Silent_p.T107T NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 107 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 AGCCCCACACCTTCCAGGGCA 0.572000 4 12 0 0 0.009096 0 0 BHMT2 23743 broad.mit.edu 37 5 78379105 78379105 + Missense_Mutation SNP G G T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr5:78379105G>T ENST00000255192.3 + 6 755 c.689G>T c.(688-690)gGg>gTg p.G230V BHMT2_ENST00000521567.1_Missense_Mutation_p.G166V|DMGDH_ENST00000520388.1_Intron NM_017614.4 NP_060084.2 Q9H2M3 BHMT2_HUMAN betaine--homocysteine S-methyltransferase 2 230 Hcy-binding. methionine biosynthetic process cytoplasm betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1) 15 all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36) L-Methionine(DB00134) GAGTGGGCAGGGCTGAAAGCG 0.582000 25 60 9.39395e-14 1.32869e-13 0.116897 1 0 PABPC5 140886 broad.mit.edu 37 X 90690938 90690938 + Missense_Mutation SNP C C A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chrX:90690938C>A ENST00000312600.3 + 2 576 c.362C>A c.(361-363)gCc>gAc p.A121D PABPC5_ENST00000373105.1_Intron NM_080832.2 NP_543022.1 Q96DU9 PABP5_HUMAN poly(A) binding protein, cytoplasmic 5 121 RRM 2. cytoplasm nucleotide binding|RNA binding central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1) 42 GACAATAGGGCCCTGTTTTAC 0.438000 18 88 5.03518e-11 6.69935e-11 0.043863 1 0 THOC2 57187 broad.mit.edu 37 X 122757644 122757644 + Missense_Mutation SNP G G C TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chrX:122757644G>C ENST00000245838.8 - 28 3528 c.3497C>G c.(3496-3498)gCt>gGt p.A1166G THOC2_ENST00000491737.1_Missense_Mutation_p.A1051G|THOC2_ENST00000355725.4_Missense_Mutation_p.A1166G NM_001081550.1 NP_001075019.1 Q8NI27 THOC2_HUMAN THO complex 2 1166 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3) 63 TTACCCCATAGCCAATGCATA 0.343000 20 62 0 0 0.083992 0 0 TAS2R1 50834 broad.mit.edu 37 5 9630051 9630051 + Missense_Mutation SNP C C A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr5:9630051C>A ENST00000382492.2 - 1 412 c.94G>T c.(94-96)Ggc>Tgc p.G32C CTD-2001E22.1_ENST00000504182.2_RNA NM_019599.2 NP_062545.1 Q9NYW7 TA2R1_HUMAN taste receptor, type 2, member 1 32 chemosensory behavior|sensory perception of taste integral to membrane taste receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1) 39 AAGTCAATGCCATTCACCACC 0.393000 17 89 1.99824e-07 2.45096e-07 0.033300 1 0 NET1 10276 broad.mit.edu 37 10 5498644 5498644 + Missense_Mutation SNP T T G TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr10:5498644T>G ENST00000355029.4 + 12 1620 c.1478T>G c.(1477-1479)tTc>tGc p.F493C NET1_ENST00000380359.3_Missense_Mutation_p.F439C|NET1_ENST00000542715.1_Missense_Mutation_p.F312C NM_001047160.1 NP_001040625.1 Q7Z628 ARHG8_HUMAN neuroepithelial cell transforming 1 493 PH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|nucleus Rho guanyl-nucleotide exchange factor activity breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1) 23 CAGCAGTGGTTCAACTGTATT 0.552000 16 65 0 0 0.091800 0 0 DSC3 1825 broad.mit.edu 37 18 28602406 28602406 + Missense_Mutation SNP G G T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr18:28602406G>T ENST00000434452.1 - 7 992 c.838C>A c.(838-840)Ctg>Atg p.L280M DSC3_ENST00000360428.4_Missense_Mutation_p.L280M NM_024423.2 NP_077741.2 Q14574 DSC3_HUMAN desmocollin 3 280 Cadherin 2. homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) CTGTATTTCAGGCGCGTATGC 0.458000 31 86 8.4185e-14 1.19611e-13 0.050027 1 0 TMEM260 54916 broad.mit.edu 37 14 57078984 57078984 + Missense_Mutation SNP A A G TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr14:57078984A>G ENST00000261556.6 + 7 960 c.838A>G c.(838-840)Agt>Ggt p.S280G TMEM260_ENST00000538838.1_Missense_Mutation_p.S280G|TMEM260_ENST00000553335.1_3'UTR|TMEM260_ENST00000536419.1_5'UTR NM_017799.3 NP_060269.3 transmembrane protein 260 AATAGGATCCAGTATGTCTGA 0.299000 14 32 0 0 0.043863 0 0 GOLGA4 2803 broad.mit.edu 37 3 37343688 37343688 + Missense_Mutation SNP G G A rs141780526 by1000genomes TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr3:37343688G>A ENST00000361924.2 + 10 1473 c.1099G>A c.(1099-1101)Gca>Aca p.A367T GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000435830.2_3'UTR|GOLGA4_ENST00000356847.4_Missense_Mutation_p.A389T NM_002078.4 NP_002069.2 Q13439 GOGA4_HUMAN golgin A4 367 Glu-rich. Golgi to plasma membrane protein transport Golgi membrane|trans-Golgi network protein binding NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 AATGGTAATCGCAGAGACAAA 0.388000 12 24 0 0 0.105934 0 0 THRAP3 9967 broad.mit.edu 37 1 36754665 36754665 + Missense_Mutation SNP C C G TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr1:36754665C>G ENST00000354618.5 + 5 1269 c.1045C>G c.(1045-1047)Cta>Gta p.L349V THRAP3_ENST00000469141.2_Missense_Mutation_p.L349V NM_005119.3 NP_005110.2 Q9Y2W1 TR150_HUMAN thyroid hormone receptor associated protein 3 349 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1) 37 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) AAATAGGTATCTAGAAGAGCA 0.353000 T USP6 aneurysmal bone cysts 12 75 0 0 0.105934 0 0 PPARGC1A 10891 broad.mit.edu 37 4 23815833 23815833 + Missense_Mutation SNP A A T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr4:23815833A>T ENST00000264867.2 - 8 1392 c.1273T>A c.(1273-1275)Tct>Act p.S425T PPARGC1A_ENST00000509702.1_5'UTR NM_013261.3 NP_037393.1 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 alpha 425 androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5) 51 Breast(46;0.0503) TCTGTGGAAGAACAAATCTGC 0.438000 19 60 0 0 0.043863 0 0 SYF2 25949 broad.mit.edu 37 1 25554002 25554002 + Missense_Mutation SNP C C A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr1:25554002C>A ENST00000236273.4 - 5 423 c.398G>T c.(397-399)cGc>cTc p.R133L SYF2_ENST00000354361.3_Missense_Mutation_p.R91L NM_015484.4 NP_056299.1 O95926 SYF2_HUMAN SYF2 pre-mRNA-splicing factor 133 catalytic step 2 spliceosome kidney(1)|large_intestine(1)|lung(4) 6 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-26)|Colorectal(126;2.54e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000455)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00145)|GBM - Glioblastoma multiforme(114;0.00443)|READ - Rectum adenocarcinoma(331;0.0936)|Lung(427;0.201) ATGATACTGGCGTAACTGGGC 0.373000 19 99 0.000175454 0.000193988 0.055883 1 0 IL12RB2 3595 broad.mit.edu 37 1 67792502 67792502 + Missense_Mutation SNP A A G TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr1:67792502A>G ENST00000262345.1 + 4 1089 c.449A>G c.(448-450)gAc>gGc p.D150G IL12RB2_ENST00000371000.1_Missense_Mutation_p.D150G|IL12RB2_ENST00000544434.1_Missense_Mutation_p.D150G|IL12RB2_ENST00000541374.1_Missense_Mutation_p.D150G NM_001559.2 NP_001550.1 Q99665 I12R2_HUMAN interleukin 12 receptor, beta 2 150 Fibronectin type-III 1. positive regulation of cell proliferation|positive regulation of interferon-gamma production integral to plasma membrane cytokine receptor activity breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 45 AGAGGACGAGACACCCACTTA 0.413000 5 30 0 0 0.029380 0 0 FLNB 2317 broad.mit.edu 37 3 58095863 58095863 + Missense_Mutation SNP G G C TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr3:58095863G>C ENST00000357272.4 + 16 2615 c.2450G>C c.(2449-2451)gGg>gCg p.G817A FLNB_ENST00000348383.5_Missense_Mutation_p.G817A|FLNB_ENST00000358537.3_Missense_Mutation_p.G817A|FLNB_ENST00000295956.4_Missense_Mutation_p.G817A|FLNB_ENST00000493452.1_Missense_Mutation_p.G648A|FLNB_ENST00000429972.2_Missense_Mutation_p.G817A|FLNB_ENST00000419752.2_Missense_Mutation_p.G648A|FLNB_ENST00000490882.1_Missense_Mutation_p.G817A O75369 FLNB_HUMAN filamin B, beta 817 actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) CCTGCTGCTGGGCGATACACT 0.498000 27 64 0 0 0.125774 0 0 PLCL2 23228 broad.mit.edu 37 3 17056386 17056386 + Missense_Mutation SNP G G A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr3:17056386G>A ENST00000418129.2 + 3 3088 c.2623G>A c.(2623-2625)Gta>Ata p.V875I PLCL2_ENST00000396755.2_Missense_Mutation_p.V875I|PLCL2_ENST00000432376.1_Missense_Mutation_p.V875I NM_001144382.1 NP_001137854.1 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 1001 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 GAAGAAGATCGTAACAACTTA 0.488000 7 106 0 0 0.047766 0 0 ZSCAN1 284312 broad.mit.edu 37 19 58551817 58551817 + Splice_Site SNP G G C TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr19:58551817G>C ENST00000282326.1 + 4 617 c.e4-1 NM_182572.3 NP_872378.3 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) CTCCCGCACAGTTCTGGTATC 0.582000 5 39 0 0 0.029380 0 0 ABCB5 340273 broad.mit.edu 37 7 20782578 20782578 + Missense_Mutation SNP G G T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr7:20782578G>T ENST00000404938.2 + 25 3755 c.3103G>T c.(3103-3105)Ggc>Tgc p.G1035C ABCB5_ENST00000258738.6_Missense_Mutation_p.G590C NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 590 regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 CATCCTCCGTGGCTTATCCCT 0.463000 19 111 5.03518e-11 6.69935e-11 0.043863 1 0 OR6V1 346517 broad.mit.edu 37 7 142749650 142749650 + Silent SNP A A T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr7:142749650A>T ENST00000418316.1 + 1 234 c.213A>T c.(211-213)gtA>gtT p.V71V NM_001001667.1 NP_001001667.1 Q8N148 OR6V1_HUMAN olfactory receptor, family 6, subfamily V, member 1 71 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1) 20 Melanoma(164;0.059) AGATCTTGGTAACCATGACTG 0.493000 72 312 0 0 0.139131 0 0 SOGA2 23255 broad.mit.edu 37 18 8824940 8824940 + Missense_Mutation SNP G G T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr18:8824940G>T ENST00000359865.3 + 15 3574 c.3432G>T c.(3430-3432)gaG>gaT p.E1144D SOGA2_ENST00000518815.1_Missense_Mutation_p.E469D|SOGA2_ENST00000306329.11_Missense_Mutation_p.E1463D|SOGA2_ENST00000517570.1_Missense_Mutation_p.E1103D|SOGA2_ENST00000306285.7_Missense_Mutation_p.E469D|SOGA2_ENST00000400050.3_Missense_Mutation_p.E1103D NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 1454 CAGGGCACGAGGACAGCACAG 0.627000 9 43 5.50884e-06 6.35947e-06 0.093190 1 0 DLGAP1 9229 broad.mit.edu 37 18 3879466 3879466 + Missense_Mutation SNP C C G TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr18:3879466C>G ENST00000315677.3 - 4 1198 c.603G>C c.(601-603)tgG>tgC p.W201C DLGAP1_ENST00000515196.2_Missense_Mutation_p.W201C|DLGAP1_ENST00000584874.1_Missense_Mutation_p.W201C|DLGAP1_ENST00000581527.1_Missense_Mutation_p.W201C|DLGAP1-AS3_ENST00000577649.1_RNA NM_004746.3 NP_004737.2 O14490 DLGP1_HUMAN discs, large (Drosophila) homolog-associated protein 1 201 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 56 Colorectal(8;0.0257) CCGAGCTCCACCAGCCCGGGG 0.701000 17 74 0 0 0.108266 0 0 REG1P 5969 broad.mit.edu 37 2 79365175 79365175 + RNA SNP T T A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr2:79365175T>A ENST00000444841.1 - 0 83 GCAGTGAATCTCTTGCTTAAG 0.468000 6 34 0 0 0.029380 0 0 ACAN 176 broad.mit.edu 37 15 89398511 89398511 + Missense_Mutation SNP C C G TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr15:89398511C>G ENST00000439576.2 + 12 3069 c.2695C>G c.(2695-2697)Ctg>Gtg p.L899V ACAN_ENST00000352105.7_Missense_Mutation_p.L899V|ACAN_ENST00000561243.1_Missense_Mutation_p.L899V|ACAN_ENST00000559004.1_Missense_Mutation_p.L899V NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 899 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) CTCTGGAGACCTGGACTCCAG 0.572000 6 12 0 0 0.029380 0 0 DCHS1 8642 broad.mit.edu 37 11 6647186 6647186 + Silent SNP T T A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr11:6647186T>A ENST00000299441.3 - 17 7107 c.6696A>T c.(6694-6696)acA>acT p.T2232T NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 2232 Cadherin 21. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCAGGATGGCTGTGGTAGTGA 0.582000 9 24 0 0 0.069234 0 0 NETO1 81832 broad.mit.edu 37 18 70417732 70417732 + Missense_Mutation SNP C C A rs140307788 byFrequency TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr18:70417732C>A ENST00000327305.6 - 9 1763 c.1106G>T c.(1105-1107)cGt>cTt p.R369L NETO1_ENST00000299430.2_Missense_Mutation_p.R368L|NETO1_ENST00000583169.1_Missense_Mutation_p.R369L NM_138966.3 NP_620416.1 Q8TDF5 NETO1_HUMAN neuropilin (NRP) and tolloid (TLL)-like 1 369 memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity p.R369H(1) NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1) 63 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) ATACTTTTTACGAGGCTGTTT 0.458000 40 108 5.85753e-14 8.36029e-14 0.139131 1 0 TMC5 79838 broad.mit.edu 37 16 19501836 19501836 + Missense_Mutation SNP A A G TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr16:19501836A>G ENST00000396229.2 + 18 3442 c.2693A>G c.(2692-2694)tAt>tGt p.Y898C TMC5_ENST00000381414.4_Intron|TMC5_ENST00000564959.1_Missense_Mutation_p.Y581C|TMC5_ENST00000219821.5_Missense_Mutation_p.Y652C|TMC5_ENST00000561503.1_Missense_Mutation_p.Y539C|TMC5_ENST00000542583.2_Missense_Mutation_p.Y898C|TMC5_ENST00000541464.1_Missense_Mutation_p.Y846C NM_001105248.1 NP_001098718.1 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 898 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 GTTTGGATCTATCGGAACCTC 0.522000 62 195 0 0 0.139131 0 0 ARHGEF6 9459 broad.mit.edu 37 X 135770096 135770096 + Missense_Mutation SNP G G C TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chrX:135770096G>C ENST00000250617.6 - 11 2445 c.1240C>G c.(1240-1242)Ctc>Gtc p.L414V ARHGEF6_ENST00000535227.1_Missense_Mutation_p.L287V|ARHGEF6_ENST00000370620.1_Missense_Mutation_p.L260V|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.L260V NM_004840.2 NP_004831.1 Q15052 ARHG6_HUMAN Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 414 DH. apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1) 38 Acute lymphoblastic leukemia(192;0.000127) CCTACCATGAGAGTTTTGAAT 0.353000 19 68 0 0 0.069288 0 0 PPFIA4 8497 broad.mit.edu 37 1 203033008 203033008 + Missense_Mutation SNP C C T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr1:203033008C>T ENST00000367240.2 + 24 3391 c.2864C>T c.(2863-2865)cCc>cTc p.P955L PPFIA4_ENST00000295706.4_Missense_Mutation_p.P461L|PPFIA4_ENST00000599966.1_Missense_Mutation_p.P461L|PPFIA4_ENST00000447715.2_Missense_Mutation_p.P954L|PPFIA4_ENST00000414050.2_Missense_Mutation_p.P683L|PPFIA4_ENST00000272198.6_Missense_Mutation_p.P470L O75335 LIPA4_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 470 cell communication cell surface|cytoplasm protein binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 50 GAATGGCTACCCAGCCTGGGG 0.592000 20 62 0 0 0.076483 0 0 SCN3A 6328 broad.mit.edu 37 2 165971985 165971985 + Missense_Mutation SNP G G T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr2:165971985G>T ENST00000360093.3 - 19 3985 c.3494C>A c.(3493-3495)cCg>cAg p.P1165Q SCN3A_ENST00000283254.7_Missense_Mutation_p.P1165Q|SCN3A_ENST00000409101.3_Missense_Mutation_p.P1116Q NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 1165 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) ACAAGCTTCCGGTTTAAGGTC 0.388000 15 47 3.41278e-10 4.48374e-10 0.033300 1 0 NELL1 4745 broad.mit.edu 37 11 20805255 20805255 + Missense_Mutation SNP C C A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr11:20805255C>A ENST00000298925.5 + 4 451 c.298C>A c.(298-300)Cat>Aat p.H100N NELL1_ENST00000325319.5_Missense_Mutation_p.H72N|NELL1_ENST00000532434.1_Missense_Mutation_p.H72N|NELL1_ENST00000357134.5_Missense_Mutation_p.H72N Q92832 NELL1_HUMAN NEL-like 1 (chicken) 72 TSP N-terminal. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity p.H72Y(1) NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 TGCAGCTCCTCATGTGAGTGA 0.443000 15 74 2.4624e-09 3.16882e-09 0.049695 1 0 AKR7A2 8574 broad.mit.edu 37 1 19633560 19633560 + Missense_Mutation SNP T T C TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr1:19633560T>C ENST00000235835.3 - 5 745 c.724A>G c.(724-726)Aag>Gag p.K242E NM_003689.3 NP_003680.2 O43488 ARK72_HUMAN aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase) 242 carbohydrate metabolic process|cellular aldehyde metabolic process Golgi apparatus alditol:NADP+ 1-oxidoreductase activity|electron carrier activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 9 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) TTCCCGTCCTTGTCCTCATAC 0.632000 17 48 0 0 0.033300 0 0 LOC642943 642943 broad.mit.edu 37 9 95646901 95646901 + RNA SNP C C T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr9:95646901C>T ENST00000446878.1 + 0 435 ANKRD19P_ENST00000473204.1_RNA GCTTTCACAACTGCAGAGGTG 0.612000 65 159 0 0 0.139131 0 0 KLHL13 90293 broad.mit.edu 37 X 117043455 117043455 + Missense_Mutation SNP T T C TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chrX:117043455T>C ENST00000371876.1 - 4 3443 c.1022A>G c.(1021-1023)tAt>tGt p.Y341C KLHL13_ENST00000371882.1_Missense_Mutation_p.Y341C|KLHL13_ENST00000371878.1_Missense_Mutation_p.Y341C|KLHL13_ENST00000541812.1_Missense_Mutation_p.Y376C|KLHL13_ENST00000540167.1_Missense_Mutation_p.Y376C|KLHL13_ENST00000545703.1_Missense_Mutation_p.Y350C|KLHL13_ENST00000539496.1_Missense_Mutation_p.Y395C|KLHL13_ENST00000469946.1_Missense_Mutation_p.Y341C|KLHL13_ENST00000262820.3_Missense_Mutation_p.Y392C Q9P2N7 KLH13_HUMAN kelch-like family member 13 392 cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 GCCAACCACATAGAGAAAATT 0.443000 18 84 0 0 0.069288 0 0 BOD1L1 259282 broad.mit.edu 37 4 13601241 13601241 + Missense_Mutation SNP G G A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr4:13601241G>A ENST00000040738.5 - 10 7418 c.7283C>T c.(7282-7284)gCg>gTg p.A2428V NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 2428 DNA binding TTCTTTTTCCGCACAAACAGC 0.547000 OREG0016115 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 295 0 0 0.029380 0 0 MAGEA6 4105 broad.mit.edu 37 X 151869626 151869626 + Missense_Mutation SNP C C G TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chrX:151869626C>G ENST00000329342.5 + 3 541 c.316C>G c.(316-318)Caa>Gaa p.Q106E NM_005363.2 NP_005354.1 P43360 MAGA6_HUMAN melanoma antigen family A, 6 106 protein binding breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) GTCTGAGTTCCAAGCAGCACT 0.542000 23 115 0 0 0.083992 0 0 PCDH11X 27328 broad.mit.edu 37 X 91873578 91873578 + Missense_Mutation SNP C C A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chrX:91873578C>A ENST00000373094.1 + 7 4528 c.3683C>A c.(3682-3684)gCt>gAt p.A1228D PCDH11X_ENST00000361655.2_Missense_Mutation_p.A1210D|PCDH11X_ENST00000298274.8_Missense_Mutation_p.A1191D|PCDH11X_ENST00000504220.1_3'UTR|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A1191D|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A1218D|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A1220D NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 1228 homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 CTAGTGCAGGCTACTGCACTT 0.597000 50 209 6.07242e-22 9.21131e-22 0.139131 1 0 GUCY2D 3000 broad.mit.edu 37 17 7918200 7918200 + Missense_Mutation SNP C C A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr17:7918200C>A ENST00000254854.4 + 14 2750 c.2600C>A c.(2599-2601)aCg>aAg p.T867K NM_000180.3 NP_000171.1 Q02846 GUC2D_HUMAN guanylate cyclase 2D, membrane (retina-specific) 867 intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity skin(1) 1 Prostate(122;0.157) GCCTTGAAGACGGGGACACCA 0.602000 10 21 2.27111e-07 2.7428e-07 0.093190 1 0 SLC18A3 6572 broad.mit.edu 37 10 50819611 50819611 + Missense_Mutation SNP C C A rs145315435 byFrequency TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr10:50819611C>A ENST00000374115.3 + 1 1265 c.825C>A c.(823-825)aaC>aaA p.N275K CHAT_ENST00000339797.1_Intron NM_003055.2 NP_003046.2 Q16572 VACHT_HUMAN solute carrier family 18 (vesicular acetylcholine transporter), member 3 275 neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 43 CTCGGGCCAACCTGCCAGTGG 0.657000 7 23 1.99824e-07 2.45096e-07 0.033300 1 0 EMP3 2014 broad.mit.edu 37 19 48830831 48830831 + Silent SNP G G T rs139549534 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d 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 3 24 0.000602214 0.000654309 0.014758 1 0 SLC6A19 340024 broad.mit.edu 37 5 1216989 1216989 + Missense_Mutation SNP A A C TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr5:1216989A>C ENST00000304460.10 + 8 1158 c.1102A>C c.(1102-1104)Aac>Cac p.N368H NM_001003841.2 NP_001003841.1 Q695T7 S6A19_HUMAN solute carrier family 6 (neutral amino acid transporter), member 19 368 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10) Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) GCAGCGGTGCAACGCCTCCGA 0.617000 5 38 0 0 0.014758 0 0 POLR2M 81488 broad.mit.edu 37 15 58006742 58006742 + Missense_Mutation SNP A A T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr15:58006742A>T ENST00000299638.3 + 4 1186 c.972A>T c.(970-972)caA>caT p.Q324H POLR2M_ENST00000380557.4_Missense_Mutation_p.Q167H|GCOM1_ENST00000484300.1_3'UTR|GCOM1_ENST00000587652.1_Missense_Mutation_p.Q721H|GCOM1_ENST00000380568.3_Missense_Mutation_p.K438M|GCOM1_ENST00000380569.2_Missense_Mutation_p.Q506H|POLR2M_ENST00000380563.2_Intron NM_015532.3 NP_056347.1 polymerase (RNA) II (DNA directed) polypeptide M AGGAGATGCAAGCAAAGCTCG 0.398000 55 119 0 0 0.139131 0 0 BNC1 646 broad.mit.edu 37 15 83926700 83926700 + Missense_Mutation SNP T T C TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr15:83926700T>C ENST00000345382.2 - 5 2564 c.2479A>G c.(2479-2481)Atg>Gtg p.M827V RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.M820V NM_001717.3 NP_001708.3 Q01954 BNC1_HUMAN basonuclin 1 827 epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 56 AGACTGCCCATTCGACTTGTT 0.512000 24 80 0 0 0.125774 0 0 PTPRD 5789 broad.mit.edu 37 9 8528597 8528597 + Silent SNP G G T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr9:8528597G>T ENST00000381196.4 - 12 1078 c.535C>A c.(535-537)Cga>Aga p.R179R PTPRD_ENST00000486161.1_Silent_p.R179R|PTPRD_ENST00000356435.5_Silent_p.R179R|PTPRD_ENST00000463477.1_Silent_p.R179R|PTPRD_ENST00000355233.5_Silent_p.R179R|PTPRD_ENST00000397606.3_Silent_p.R179R|PTPRD_ENST00000397611.3_Silent_p.R179R|PTPRD_ENST00000397617.3_Silent_p.R179R|PTPRD_ENST00000358503.5_Silent_p.R179R|PTPRD_ENST00000540109.1_Silent_p.R179R|PTPRD_ENST00000360074.4_Silent_p.R179R|PTPRD_ENST00000537002.1_Silent_p.R179R NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 179 Ig-like C2-type 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.R179*(4) NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) CTACCTGATCGTAACTGCTTA 0.328000 TSP Lung(15;0.13) 35 175 3.54909e-21 5.33212e-21 0.124865 1 0 AP1G1 164 broad.mit.edu 37 16 71787790 71787790 + Splice_Site SNP C C A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr16:71787790C>A ENST00000299980.4 - 13 1671 c.1229_splice c.e13-1 p.K410_splice AP1G1_ENST00000569748.1_Splice_Site_p.K410_splice|AP1G1_ENST00000423132.2_Splice_Site_p.K413_splice|AP1G1_ENST00000393512.3_Splice_Site_p.K413_splice|AP1G1_ENST00000433195.2_Splice_Site_p.K433_splice NM_001128.5 NP_001119.3 O43747 AP1G1_HUMAN adaptor-related protein complex 1, gamma 1 subunit 410 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome kinesin binding|protein transporter activity breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1) 28 Ovarian(137;0.125) AAGGTGCATACCTGAAAAAAA 0.423000 37 112 4.00102e-26 6.2194e-26 0.086207 1 0 KIAA0232 9778 broad.mit.edu 37 4 6873323 6873323 + Missense_Mutation SNP T T C TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr4:6873323T>C ENST00000307659.5 + 8 4279 c.3824T>C c.(3823-3825)aTa>aCa p.I1275T KIAA0232_ENST00000425103.1_Missense_Mutation_p.I1275T NM_014743.2 NP_055558.2 Q92628 K0232_HUMAN KIAA0232 1275 ATP binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1) 41 AACACTGATATACAAGGAATG 0.348000 21 95 0 0 0.108266 0 0 SNRPD1 6632 broad.mit.edu 37 18 19203777 19203777 + Nonsense_Mutation SNP C C T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr18:19203777C>T ENST00000300413.4 + 3 323 c.160C>T c.(160-162)Cag>Tag p.Q54* SNRPD1_ENST00000582475.1_Nonsense_Mutation_p.Q10*|SNRPD1_ENST00000579618.1_Intron NM_006938.2 NP_008869.1 P62314 SMD1_HUMAN small nuclear ribonucleoprotein D1 polypeptide 16kDa 54 ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex protein binding|RNA binding lung(2)|prostate(1) 3 AGAACCTGTACAGCTGGAAAC 0.388000 11 58 0 0 0.093190 0 0 PCDH11X 27328 broad.mit.edu 37 X 91873562 91873562 + Missense_Mutation SNP C C T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chrX:91873562C>T ENST00000373094.1 + 7 4512 c.3667C>T c.(3667-3669)Cct>Tct p.P1223S PCDH11X_ENST00000361655.2_Missense_Mutation_p.P1205S|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P1186S|PCDH11X_ENST00000504220.1_3'UTR|PCDH11X_ENST00000373088.1_Missense_Mutation_p.P1186S|PCDH11X_ENST00000373097.1_Missense_Mutation_p.P1213S|PCDH11X_ENST00000406881.1_Missense_Mutation_p.P1215S NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 1223 homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 CCACCACAGTCCTCCTCTAGT 0.587000 53 201 0 0 0.139131 0 0 TAB3 257397 broad.mit.edu 37 X 30873050 30873050 + Silent SNP A A G TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chrX:30873050A>G ENST00000378933.1 - 3 909 c.732T>C c.(730-732)acT>acC p.T244T TAB3_ENST00000288422.2_Silent_p.T244T|TAB3_ENST00000378930.3_Silent_p.T244T|TAB3_ENST00000378932.2_Silent_p.T244T NM_152787.3 NP_690000.2 Q8N5C8 TAB3_HUMAN TGF-beta activated kinase 1/MAP3K7 binding protein 3 244 Pro-rich. activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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 cytosol|endosome membrane|plasma membrane protein binding|zinc ion binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1) 27 TACTCTGAGGAGTTTGTCTTC 0.463000 7 11 0 0 0.029380 0 0 OR51B5 282763 broad.mit.edu 37 11 5364598 5364598 + Missense_Mutation SNP G G C TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr11:5364598G>C ENST00000300773.2 - 1 211 c.157C>G c.(157-159)Ctt>Gtt p.L53V HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron NM_001005567.2 NP_001005567.2 Q9H339 O51B5_HUMAN olfactory receptor, family 51, subfamily B, member 5 53 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L53I(1) NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 28 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGCTCATGAAGATTGTGATCT 0.502000 25 84 0 0 0.099896 0 0 RBM10 8241 broad.mit.edu 37 X 47039331 47039331 + Silent SNP G G T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chrX:47039331G>T ENST00000377604.3 + 10 1696 c.954G>T c.(952-954)ggG>ggT p.G318G RBM10_ENST00000468791.1_Intron|RBM10_ENST00000329236.7_Silent_p.G241G|RBM10_ENST00000345781.6_Silent_p.G241G NM_001204467.1|NM_001204468.1|NM_005676.4 NP_001191396.1|NP_001191397.1|NP_005667.2 P98175 RBM10_HUMAN RNA binding motif protein 10 318 RRM 2. mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 48 CCATCCTGGGGGCCCTGGCAC 0.592000 7 9 3.09899e-07 3.72828e-07 0.047766 1 0 PKHD1 5314 broad.mit.edu 37 6 51524198 51524198 + Missense_Mutation SNP A A T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr6:51524198A>T ENST00000371117.3 - 61 11001 c.10726T>A c.(10726-10728)Tgg>Agg p.W3576R NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 3576 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity p.W3576R(1) NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) ACTATTTCCCAGCCTTTTTCT 0.423000 47 67 0 0 0.139131 0 0 IPP 3652 broad.mit.edu 37 1 46179938 46179938 + Nonsense_Mutation SNP C C A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr1:46179938C>A ENST00000396478.3 - 8 1612 c.1510G>T c.(1510-1512)Gaa>Taa p.E504* NM_005897.2 NP_005888.1 Q9Y573 IPP_HUMAN intracisternal A particle-promoted polypeptide 504 actin cytoskeleton|cytoplasm actin binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2) 20 Acute lymphoblastic leukemia(166;0.155) GAATATTTTTCTACAGTATGA 0.393000 14 53 2.32078e-09 2.99887e-09 0.132662 1 0 OBP2A 29991 broad.mit.edu 37 9 138439035 138439035 + Missense_Mutation SNP G G T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr9:138439035G>T ENST00000539850.1 + 3 244 c.218G>T c.(217-219)cGg>cTg p.R73L OBP2A_ENST00000371776.1_Missense_Mutation_p.R73L|OBP2A_ENST00000340780.3_Missense_Mutation_p.R73L|OBP2A_ENST00000342114.4_Silent_p.S28S Q9NY56 OBP2A_HUMAN odorant binding protein 2A 73 response to stimulus|sensory perception of smell extracellular region odorant binding|transporter activity endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05) AGGGAGGATCGGTGCATCCAG 0.642000 4 48 8.12818e-05 9.01855e-05 0.029380 1 0 VCAN 1462 broad.mit.edu 37 5 82786291 82786291 + Splice_Site SNP G G T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr5:82786291G>T ENST00000265077.3 + 3 1010 c.445_splice c.e3+1 p.G149_splice VCAN_ENST00000513984.1_Splice_Site_p.G149_splice|VCAN_ENST00000343200.5_Splice_Site_p.G149_splice|VCAN_ENST00000502527.2_Splice_Site_p.G149_splice|VCAN_ENST00000342785.4_Splice_Site_p.G149_splice|VCAN_ENST00000512590.2_Splice_Site_p.G101_splice NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 149 cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) GACTGTGGATGGTAAGGCTTT 0.463000 22 59 4.72057e-08 5.92904e-08 0.091800 1 0 SCML2 10389 broad.mit.edu 37 X 18264765 18264765 + Missense_Mutation SNP A A T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chrX:18264765A>T ENST00000251900.4 - 13 1913 c.1754T>A c.(1753-1755)cTa>cAa p.L585Q SCML2_ENST00000398048.3_Missense_Mutation_p.L321Q NM_006089.2 NP_006080.1 Q9UQR0 SCML2_HUMAN sex comb on midleg-like 2 (Drosophila) 585 anatomical structure morphogenesis PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 36 Hepatocellular(33;0.183) GTCCCCAACTAGTGGTGAACT 0.413000 28 113 0 0 0.134883 0 0 FGD1 2245 broad.mit.edu 37 X 54472781 54472781 + Missense_Mutation SNP G G C TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chrX:54472781G>C ENST00000375135.3 - 18 3380 c.2647C>G c.(2647-2649)Cgg>Ggg p.R883G NM_004463.2 NP_004454.2 P98174 FGD1_HUMAN FYVE, RhoGEF and PH domain containing 1 883 PH 2. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 CTGTCAGGCCGCTCCCCTGCC 0.632000 9 14 0 0 0.080935 0 0 FAM47C 442444 broad.mit.edu 37 X 37028425 37028425 + Missense_Mutation SNP A A G rs145580328 byFrequency TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chrX:37028425A>G ENST00000358047.3 + 1 1994 c.1942A>G c.(1942-1944)Aat>Gat p.N648D NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 648 p.N648D(7) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 GGAGCCTCCCAATACTGGAGT 0.642000 4 140 0 0 0.021553 0 0 TNNT2 7139 broad.mit.edu 37 1 201335967 201335967 + Splice_Site SNP T T C TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr1:201335967T>C ENST00000509001.1 - 7 488 c.203_splice c.e7+1 p.R68_splice TNNT2_ENST00000236918.7_Splice_Site_p.R73_splice|TNNT2_ENST00000367320.2_Splice_Site_p.R77_splice|TNNT2_ENST00000458432.2_Splice_Site_p.R80_splice|TNNT2_ENST00000367322.1_Splice_Site_p.R68_splice|TNNT2_ENST00000421663.2_Splice_Site_p.R70_splice|TNNT2_ENST00000360372.4_Splice_Site_p.R63_splice|TNNT2_ENST00000367315.2_Splice_Site_p.R68_splice|TNNT2_ENST00000367317.4_Splice_Site_p.R68_splice|TNNT2_ENST00000367318.5_Splice_Site_p.R68_splice NM_001276347.1 NP_001263276.1 P45379 TNNT2_HUMAN troponin T type 2 (cardiac) 78 ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis cytosol|troponin complex actin binding|tropomyosin binding|troponin C binding|troponin I binding breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9) 20 CCCACTCACCTGGGCTTTGGT 0.622000 13 77 0 0 0.146539 0 0 WDR44 54521 broad.mit.edu 37 X 117570673 117570673 + Silent SNP T T C TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chrX:117570673T>C ENST00000254029.3 + 14 2255 c.1860T>C c.(1858-1860)ttT>ttC p.F620F WDR44_ENST00000371825.3_Silent_p.F620F|WDR44_ENST00000371822.5_Silent_p.F595F NM_019045.4 NP_061918.3 Q5JSH3 WDR44_HUMAN WD repeat domain 44 620 cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 33 AGAACTACTTTCTTCTTTCTT 0.318000 11 26 0 0 0.093190 0 0 PDIA4 9601 broad.mit.edu 37 7 148702415 148702415 + Missense_Mutation SNP T T A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr7:148702415T>A ENST00000286091.4 - 9 1572 c.1340A>T c.(1339-1341)gAg>gTg p.E447V NM_004911.4 NP_004902.1 P13667 PDIA4_HUMAN protein disulfide isomerase family A, member 4 447 cell redox homeostasis|glycerol ether metabolic process|protein secretion endoplasmic reticulum lumen|melanosome electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity large_intestine(6)|lung(15)|ovary(2)|prostate(1) 24 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00385) AAAGGTGTACTCAGGGAAGTC 0.587000 OREG0018420 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 37 38 0 0 0.104719 0 0 ETV7 51513 broad.mit.edu 37 6 36334711 36334711 + Silent SNP C C G TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr6:36334711C>G ENST00000373738.1 - 6 1529 c.684G>C c.(682-684)ctG>ctC p.L228L ETV7_ENST00000340181.4_Silent_p.L283L|ETV7_ENST00000339796.5_Silent_p.L283L|ETV7_ENST00000373737.4_Silent_p.L206L|ETV7_ENST00000538992.1_Silent_p.L132L NM_001207036.1 NP_001193965.1 Q9Y603 ETV7_HUMAN ets variant 7 283 organ morphogenesis|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4) 10 AATAGTGGCGCAGGGCACGAG 0.532000 49 52 0 0 0.139131 0 0 HBM 3042 broad.mit.edu 37 16 216613 216613 + Missense_Mutation SNP C C T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr16:216613C>T ENST00000356815.3 + 3 352 c.332C>T c.(331-333)tCc>tTc p.S111F HBM_ENST00000472539.1_3'UTR NM_001003938.3 NP_001003938.1 Q6B0K9 HBM_HUMAN hemoglobin, mu 111 hemoglobin complex heme binding|oxygen binding|oxygen transporter activity all_cancers(16;1.62e-06)|all_epithelial(16;4.01e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239) GTGCTGGCCTCCCACCTGCAG 0.647000 3 25 0 0 0.115264 0 0 OR5P2 120065 broad.mit.edu 37 11 7818426 7818426 + Missense_Mutation SNP C C G TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr11:7818426C>G ENST00000329434.2 - 1 94 c.64G>C c.(64-66)Gat>Cat p.D22H RP11-35J10.5_ENST00000527565.1_lincRNA NM_153444.1 NP_703145.1 Q8WZ92 OR5P2_HUMAN olfactory receptor, family 5, subfamily P, member 2 22 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4) 22 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) ATTGGATCATCTGTTAAGCCC 0.428000 28 55 0 0 0.099896 0 0 OR4N5 390437 broad.mit.edu 37 14 20611982 20611982 + Missense_Mutation SNP C C A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr14:20611982C>A ENST00000333629.1 + 1 88 c.88C>A c.(88-90)Cta>Ata p.L30I NM_001004724.1 NP_001004724.1 Q8IXE1 OR4N5_HUMAN olfactory receptor, family 4, subfamily N, member 5 30 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1) 29 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) GGTCTTTGTGCTAGTCTTAAT 0.428000 77 242 3.86735e-44 6.25952e-44 0.139131 1 0 SPIN4 139886 broad.mit.edu 37 X 62570191 62570191 + Missense_Mutation SNP C C T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chrX:62570191C>T ENST00000374884.2 - 1 1032 c.454G>A c.(454-456)Gac>Aac p.D152N SPIN4-AS1_ENST00000451979.1_RNA|SPIN4_ENST00000335144.3_Missense_Mutation_p.D170N Q56A73 SPIN4_HUMAN spindlin family, member 4 170 gamete generation endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 11 TCTTTGTAGTCATCAAGCAGC 0.478000 31 147 0 0 0.064281 0 0 COX10-AS1 100874058 broad.mit.edu 37 17 13927814 13927814 + RNA SNP A A T rs141406384 by1000genomes TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr17:13927814A>T ENST00000602743.1 - 0 224 TTGGTGGGAGACGCTCAAGAG 0.512000 6 16 0 0 0.080935 0 0 CSHL1 1444 broad.mit.edu 37 17 61987508 61987508 + Missense_Mutation SNP G G A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr17:61987508G>A ENST00000450719.3 - 3 440 c.203C>T c.(202-204)cCa>cTa p.P68L CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000561003.1_Missense_Mutation_p.P79L|CSHL1_ENST00000309894.5_Intron|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000392824.4_3'UTR|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000346606.6_Intron Q14406 CSHL_HUMAN chorionic somatomammotropin hormone-like 1 0 extracellular region hormone activity|metal ion binding endometrium(3)|lung(6) 9 GGGGACCCCTGGTGCCACCCT 0.572000 15 61 0 0 0.055883 0 0 PCDHB7 56129 broad.mit.edu 37 5 140554673 140554673 + Missense_Mutation SNP C C A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr5:140554673C>A ENST00000231137.3 + 1 2431 c.2257C>A c.(2257-2259)Ctg>Atg p.L753M NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 753 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.L753L(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGAGGTGTGCCTGACTGGAGG 0.582000 11 244 6.72482e-11 8.87225e-11 0.132662 1 0 SALL1 6299 broad.mit.edu 37 16 51174345 51174345 + Silent SNP C C G TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr16:51174345C>G ENST00000440970.1 - 2 1928 c.1497G>C c.(1495-1497)ggG>ggC p.G499G SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Silent_p.G596G NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 596 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) ACTCAGGGCCCCCGGAGTCAC 0.607000 7 22 0 0 0.058154 0 0 PRKCG 5582 broad.mit.edu 37 19 54401312 54401312 + Nonsense_Mutation SNP C C A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr19:54401312C>A ENST00000536044.1 + 9 1247 c.951C>A c.(949-951)tgC>tgA p.C317* PRKCG_ENST00000540413.1_Missense_Mutation_p.H347N|PRKCG_ENST00000263431.3_Missense_Mutation_p.H347N|PRKCG_ENST00000542049.1_Missense_Mutation_p.H234N P05129 KPCG_HUMAN protein kinase C, gamma 0 RVRM -> VSRT (in Ref. 3; AAA60102). activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1) 10 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) AGGACGCCTGCACATCTCCGA 0.612000 4 25 2.0095e-06 2.35441e-06 0.029380 1 0 ADGB 79747 broad.mit.edu 37 6 147109743 147109743 + Missense_Mutation SNP A A T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr6:147109743A>T ENST00000397944.3 + 33 4610 c.4534A>T c.(4534-4536)Att>Ttt p.I1512F ADGB_ENST00000367488.1_Missense_Mutation_p.I235F|ADGB_ENST00000367493.3_3'UTR NM_024694.3 NP_078970.3 Q8N7X0 CAN7L_HUMAN androglobin 1512 oxygen transport|proteolysis intracellular calcium-dependent cysteine-type endopeptidase activity|heme binding|oxygen binding breast(1)|endometrium(2)|kidney(2) 5 GAAGGAAAACATTCGTAAGTA 0.413000 3 5 0 0 0.115264 0 0 FN1 2335 broad.mit.edu 37 2 216295507 216295507 + Nonsense_Mutation SNP G G A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr2:216295507G>A ENST00000354785.4 - 5 985 c.616C>T c.(616-618)Caa>Taa p.Q206* FN1_ENST00000432072.2_Nonsense_Mutation_p.Q206*|FN1_ENST00000421182.1_Nonsense_Mutation_p.Q206*|FN1_ENST00000359671.1_Nonsense_Mutation_p.Q206*|FN1_ENST00000357867.4_Nonsense_Mutation_p.Q206*|FN1_ENST00000357009.2_Nonsense_Mutation_p.Q206*|FN1_ENST00000356005.4_Nonsense_Mutation_p.Q206*|FN1_ENST00000345488.5_Nonsense_Mutation_p.Q206*|FN1_ENST00000336916.4_Nonsense_Mutation_p.Q206*|FN1_ENST00000323926.6_Nonsense_Mutation_p.Q206*|FN1_ENST00000426059.1_Nonsense_Mutation_p.Q206*|FN1_ENST00000446046.1_Nonsense_Mutation_p.Q206*|FN1_ENST00000443816.1_Nonsense_Mutation_p.Q206*|FN1_ENST00000346544.3_Nonsense_Mutation_p.Q206* P02751 FINC_HUMAN fibronectin 1 206 Fibrin- and heparin-binding 1.|Fibronectin type-I 4. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ATCCAGCCTTGGTAGGGCTTC 0.438000 9 33 0 0 0.058154 0 0 MYH4 4622 broad.mit.edu 37 17 10368833 10368833 + Missense_Mutation SNP C C T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr17:10368833C>T ENST00000255381.2 - 5 541 c.431G>A c.(430-432)cGa>cAa p.R144Q CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 144 Myosin head-like. 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 CTTTTTGCCTCGGTAGGCTGT 0.542000 37 74 0 0 0.092188 0 0 ZSCAN5B 342933 broad.mit.edu 37 19 56701625 56701625 + Silent SNP C C G TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr19:56701625C>G ENST00000586855.2 - 5 1372 c.1059G>C c.(1057-1059)ccG>ccC p.P353P ZSCAN5B_ENST00000358992.3_Silent_p.P353P A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 353 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 ATGCAAAGGGCGGCAGGGCCT 0.527000 18 97 0 0 0.062417 0 0 TCN1 6947 broad.mit.edu 37 11 59620776 59620776 + Silent SNP G G T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr11:59620776G>T ENST00000257264.3 - 8 1244 c.1140C>A c.(1138-1140)cgC>cgA p.R380R NM_001062.3 NP_001053.2 P20061 TCO1_HUMAN transcobalamin I (vitamin B12 binding protein, R binder family) 380 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular region cobalamin binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 all_epithelial(135;0.198) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GCCCCCATGAGCGCTCCTCCA 0.458000 19 59 1.33834e-09 1.73652e-09 0.043863 1 0 C10orf71 118461 broad.mit.edu 37 10 50531470 50531470 + Missense_Mutation SNP G G T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr10:50531470G>T ENST00000374144.3 + 3 1168 c.880G>T c.(880-882)Gct>Tct p.A294S C10orf71_ENST00000323868.4_Missense_Mutation_p.A294S Q711Q0 CJ071_HUMAN chromosome 10 open reading frame 71 294 endometrium(1) 1 AAAGGACACAGCTGGAACCGT 0.537000 41 101 5.20837e-25 8.0168e-25 0.104719 1 0 MYH6 4624 broad.mit.edu 37 14 23863473 23863473 + Missense_Mutation SNP G G T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr14:23863473G>T ENST00000405093.3 - 21 2559 c.2489C>A c.(2488-2490)cCc>cAc p.P830H MYH6_ENST00000356287.3_Missense_Mutation_p.P830H NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 830 P -> L (in CMD1EE). 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) CTTCATCCAGGGCCAATTCTT 0.552000 17 48 9.16793e-09 1.16078e-08 0.033300 1 0 KCNH1 3756 broad.mit.edu 37 1 211263912 211263912 + Nonsense_Mutation SNP G G T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr1:211263912G>T ENST00000367007.4 - 4 600 c.431C>A c.(430-432)tCa>tAa p.S144* KCNH1_ENST00000271751.4_Nonsense_Mutation_p.S144* NM_002238.3|NM_172362.2 NP_002229.1|NP_758872.1 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 1 144 PAC. myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) ACCTTTACATGAATCATCCTC 0.348000 20 90 1.42536e-11 1.91266e-11 0.099896 1 0 KCNA2 3737 broad.mit.edu 37 1 111146839 111146839 + Missense_Mutation SNP C C G TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr1:111146839C>G ENST00000485317.1 - 3 1239 c.566G>C c.(565-567)cGg>cCg p.R189P KCNA2_ENST00000525120.1_Intron|KCNA2_ENST00000440270.1_Missense_Mutation_p.R189P|KCNA2_ENST00000316361.4_Missense_Mutation_p.R189P|KCNA2_ENST00000369770.3_Missense_Mutation_p.R189P P16389 KCNA2_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 2 189 juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191) ATTCTCATCCCGGAAGATGGG 0.502000 24 64 0 0 0.116897 0 0 LDLRAD4 753 broad.mit.edu 37 18 13645521 13645521 + Missense_Mutation SNP C C A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr18:13645521C>A ENST00000361205.4 + 7 1454 c.786C>A c.(784-786)caC>caA p.H262Q LDLRAD4_ENST00000586765.1_Missense_Mutation_p.H207Q|LDLRAD4_ENST00000587757.1_Missense_Mutation_p.H225Q|RP11-701H16.4_ENST00000588397.1_RNA|LDLRAD4_ENST00000359446.5_Missense_Mutation_p.H262Q|LDLRAD4_ENST00000399848.3_Missense_Mutation_p.H244Q|LDLRAD4_ENST00000592991.1_Missense_Mutation_p.H164Q|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.H185Q NM_001276249.1|NM_181481.3 NP_001263178.1|NP_852146.1 low density lipoprotein receptor class A domain containing 4 TGGGCCACCACCCAGGCGCCT 0.607000 13 25 9.31168e-06 1.07101e-05 0.105934 1 0 SPTB 6710 broad.mit.edu 37 14 65239517 65239517 + Missense_Mutation SNP C C A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr14:65239517C>A ENST00000389722.3 - 25 5387 c.5334G>T c.(5332-5334)atG>atT p.M1778I SPTB_ENST00000542895.1_Missense_Mutation_p.M1778I|SPTB_ENST00000389720.3_Missense_Mutation_p.M1778I|SPTB_ENST00000389721.5_Missense_Mutation_p.M1778I|SPTB_ENST00000556626.1_Missense_Mutation_p.M1778I NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 1778 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) GGTCTGCCCACATCTCGTTCA 0.637000 9 41 2.27111e-07 2.7428e-07 0.093190 1 0 STYK1 55359 broad.mit.edu 37 12 10772762 10772762 + Missense_Mutation SNP T T C TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr12:10772762T>C ENST00000075503.3 - 11 1770 c.1250A>G c.(1249-1251)tAc>tGc p.Y417C NM_018423.2 NP_060893.2 Q6J9G0 STYK1_HUMAN serine/threonine/tyrosine kinase 1 417 integral to membrane|plasma membrane ATP binding|non-membrane spanning protein tyrosine kinase activity p.Y417C(1) breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 26 GCTATAGTTGTAGAAGAGGCT 0.448000 HNSCC(73;0.22) 79 102 0 0 0.139131 0 0 IL13RA2 3598 broad.mit.edu 37 X 114245312 114245312 + Missense_Mutation SNP A A T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chrX:114245312A>T ENST00000371936.1 - 7 850 c.601T>A c.(601-603)Tat>Aat p.Y201N IL13RA2_ENST00000243213.1_Missense_Mutation_p.Y201N Q14627 I13R2_HUMAN interleukin 13 receptor, alpha 2 201 Fibronectin type-III 2. extracellular space|integral to membrane|soluble fraction cytokine receptor activity NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 23 GCCTCCAAATAGGGAAATCTG 0.368000 15 70 0 0 0.132662 0 0 CRX 1406 broad.mit.edu 37 19 48343114 48343114 + Missense_Mutation SNP G G T rs138146799 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr19:48343114G>T ENST00000221996.7 + 4 996 c.790G>T c.(790-792)Gtg>Ttg p.V264L TPRX2P_ENST00000535362.1_Intron|CRX_ENST00000539067.1_Missense_Mutation_p.V264L NM_000554.4 NP_000545.1 O43186 CRX_HUMAN cone-rod homeobox 264 organ morphogenesis|response to stimulus|visual perception leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1) 23 all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133) OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521) CTACAGCCCCGTGGATAGCTT 0.612000 39 187 1.23103e-26 1.9231e-26 0.131918 1 0 CPA3 1359 broad.mit.edu 37 3 148597578 148597578 + Missense_Mutation SNP G G T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr3:148597578G>T ENST00000296046.3 + 6 530 c.478G>T c.(478-480)Ggg>Tgg p.G160W RP11-680B3.2_ENST00000488190.1_RNA NM_001870.2 NP_001861.2 P15088 CBPA3_HUMAN carboxypeptidase A3 (mast cell) 160 proteolysis stored secretory granule|transport vesicle metallocarboxypeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 35 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) TAAATAGATTGGGGAAAAGAA 0.373000 11 46 7.03913e-09 9.02157e-09 0.093190 1 0 OR2T3 343173 broad.mit.edu 37 1 248637525 248637525 + Missense_Mutation SNP C C A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr1:248637525C>A ENST00000359594.2 + 1 899 c.874C>A c.(874-876)Ccc>Acc p.P292T NM_001005495.1 NP_001005495.1 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, member 3 292 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3) 31 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) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TGTGCTGAACCCCCTCATTTA 0.488000 59 465 6.25564e-26 9.67621e-26 0.139131 1 0 DIDO1 11083 broad.mit.edu 37 20 61513366 61513366 + Silent SNP C C A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr20:61513366C>A ENST00000266070.4 - 16 4267 c.3942G>T c.(3940-3942)ctG>ctT p.L1314L DIDO1_ENST00000395343.1_Silent_p.L1314L NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 1314 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) GGATGTGCTCCAGCGGTGATG 0.622000 3 3 6.4e-05 7.12781e-05 0.115264 1 0 FAM47A 158724 broad.mit.edu 37 X 34149363 34149363 + Missense_Mutation SNP G G T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chrX:34149363G>T ENST00000346193.3 - 1 1084 c.1033C>A c.(1033-1035)Cgt>Agt p.R345S NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 345 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 GACCCCCGACGAGTCTTGGAA 0.667000 20 64 2.44723e-14 3.52491e-14 0.099896 1 0 ZCCHC5 203430 broad.mit.edu 37 X 77913900 77913900 + Silent SNP T T A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chrX:77913900T>A ENST00000321110.1 - 2 313 c.18A>T c.(16-18)gcA>gcT p.A6A NM_152694.2 NP_689907.1 Q8N8U3 ZCHC5_HUMAN zinc finger, CCHC domain containing 5 6 nucleic acid binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1) 37 TATAGGAGGCTGCTAAGTCCT 0.473000 10 34 0 0 0.069234 0 0 MAP10 54627 broad.mit.edu 37 1 232942878 232942878 + Missense_Mutation SNP G G C TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr1:232942878G>C ENST00000418460.1 + 1 2236 c.2109G>C c.(2107-2109)aaG>aaC p.K703N NM_019090.2 NP_061963.2 microtubule-associated protein 10 CTGAAGATAAGTATTTAGATT 0.363000 6 7 0 0 0.038147 0 0 OR6K2 81448 broad.mit.edu 37 1 158669686 158669686 + Missense_Mutation SNP A A T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr1:158669686A>T ENST00000359610.2 - 1 800 c.757T>A c.(757-759)Ttt>Att p.F253I NM_001005279.1 NP_001005279.1 Q8NGY2 OR6K2_HUMAN olfactory receptor, family 6, subfamily K, member 2 253 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 46 all_hematologic(112;0.0378) ACACTGCCAAAGAAGAGCGAA 0.478000 19 104 0 0 0.069288 0 0 RIPPLY1 92129 broad.mit.edu 37 X 106145412 106145412 + Silent SNP G G T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chrX:106145412G>T ENST00000276173.4 - 2 218 c.189C>A c.(187-189)tcC>tcA p.S63S RIPPLY1_ENST00000411805.1_Intron|CLDN2_ENST00000541806.1_Intron NM_138382.2 NP_612391.1 Q0D2K3 RIPP1_HUMAN ripply transcriptional repressor 1 63 negative regulation of transcription, DNA-dependent|somite rostral/caudal axis specification|somite specification|transcription, DNA-dependent nucleus lung(1)|urinary_tract(1) 2 AGTCATTTGTGGAAGACAGCC 0.517000 9 20 4.3838e-07 5.25387e-07 0.105934 1 0 CD163L1 283316 broad.mit.edu 37 12 7586213 7586213 + Missense_Mutation SNP G G C TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr12:7586213G>C ENST00000313599.3 - 3 259 c.202C>G c.(202-204)Cag>Gag p.Q68E CD163L1_ENST00000396630.1_Missense_Mutation_p.Q68E|CD163L1_ENST00000416109.2_Missense_Mutation_p.Q68E Q9NR16 C163B_HUMAN CD163 molecule-like 1 68 SRCR 1. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 GTCCCCCACTGTCCCTGGAAT 0.498000 61 221 0 0 0.139131 0 0 NFATC4 4776 broad.mit.edu 37 14 24839231 24839231 + Silent SNP T T C TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr14:24839231T>C ENST00000413692.2 + 3 960 c.816T>C c.(814-816)ttT>ttC p.F272F NFATC4_ENST00000554661.1_Silent_p.F139F|NFATC4_ENST00000424781.2_Silent_p.F222F|NFATC4_ENST00000555453.1_Silent_p.F197F|NFATC4_ENST00000539237.2_Silent_p.F241F|NFATC4_ENST00000422617.3_Silent_p.F197F|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000553708.1_Silent_p.F209F|NFATC4_ENST00000557451.1_Silent_p.F139F|NFATC4_ENST00000553469.1_Silent_p.F241F|NFATC4_ENST00000553879.1_Silent_p.F139F|NFATC4_ENST00000554344.1_Silent_p.F139F|NFATC4_ENST00000556279.1_Silent_p.F241F|NFATC4_ENST00000556169.1_Silent_p.F197F|NFATC4_ENST00000554050.1_Silent_p.F209F|NFATC4_ENST00000555590.1_Silent_p.F222F|NFATC4_ENST00000250373.4_Silent_p.F209F|NFATC4_ENST00000554966.1_Silent_p.F222F|NFATC4_ENST00000554591.1_Silent_p.F272F NM_001136022.1|NM_001198967.1 NP_001129494.1|NP_001185896.1 Q14934 NFAC4_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 209 2 approximate SP repeats.|Pro-rich. cell differentiation|inflammatory response|transcription from RNA polymerase II promoter cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2) 34 GBM - Glioblastoma multiforme(265;0.018) CCTCCCGCTTTGGCCTGGGCT 0.682000 8 15 0 0 0.047766 0 0 SV2B 9899 broad.mit.edu 37 15 91832761 91832761 + Missense_Mutation SNP G G T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr15:91832761G>T ENST00000394232.1 + 12 2189 c.1719G>T c.(1717-1719)atG>atT p.M573I SV2B_ENST00000330276.4_Missense_Mutation_p.M573I|SV2B_ENST00000545111.2_Missense_Mutation_p.M422I NM_014848.4 NP_055663.1 Q7L1I2 SV2B_HUMAN synaptic vesicle glycoprotein 2B 573 neurotransmitter transport acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 42 Lung NSC(78;0.0987)|all_lung(78;0.172) BRCA - Breast invasive adenocarcinoma(143;0.0895) GTGGCTCCATGCTAATCTCTG 0.527000 21 92 7.41945e-09 9.47036e-09 0.108266 1 0 TDRD5 163589 broad.mit.edu 37 1 179631373 179631373 + Silent SNP C C T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr1:179631373C>T ENST00000444136.1 + 15 2707 c.2457C>T c.(2455-2457)agC>agT p.S819S TDRD5_ENST00000367614.1_Silent_p.S765S|TDRD5_ENST00000294848.8_Silent_p.S765S NM_001199085.1|NM_001199089.1 NP_001186014.1|NP_001186018.1 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 810 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 TTACTGCAAGCCTTGGTGGAA 0.448000 12 50 0 0 0.119110 0 0 ATG2B 55102 broad.mit.edu 37 14 96761865 96761865 + Silent SNP T T A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr14:96761865T>A ENST00000359933.4 - 35 6065 c.5172A>T c.(5170-5172)acA>acT p.T1724T ATG2B_ENST00000261834.5_5'UTR NM_018036.5 NP_060506.5 Q96BY7 ATG2B_HUMAN autophagy related 2B 1724 breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7) 64 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) CAGAAAGACTTGTGAAGAAAT 0.308000 16 50 0 0 0.083992 0 0 DDX60L 91351 broad.mit.edu 37 4 169377245 169377245 + Missense_Mutation SNP C C T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr4:169377245C>T ENST00000511577.1 - 7 1029 c.782G>A c.(781-783)cGt>cAt p.R261H DDX60L_ENST00000505890.1_Missense_Mutation_p.R261H|DDX60L_ENST00000260184.7_Missense_Mutation_p.R261H Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 261 ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) ACAGAGAACACGCTGGATGTC 0.398000 10 50 0 0 0.080935 0 0 MIR381HG 378881 broad.mit.edu 37 14 101515008 101515008 + RNA SNP A A G TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr14:101515008A>G ENST00000553692.1 + 0 28 MIR544A_ENST00000384855.1_RNA ttcatcacctagggatcttgt 0.408000 4 10 0 0 0.014758 0 0 DNAH17 8632 broad.mit.edu 37 17 76498745 76498745 + Silent SNP G G C TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr17:76498745G>C ENST00000389840.5 - 33 5209 c.5085C>G c.(5083-5085)acC>acG p.T1695T DNAH17-AS1_ENST00000598378.1_3'UTR|DNAH17_ENST00000585328.1_Silent_p.T1703T 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) GGCCCACCTCGGTCGTCCACC 0.532000 4 8 0 0 0.014758 0 0 KIF21B 23046 broad.mit.edu 37 1 200956012 200956012 + Missense_Mutation SNP G G T rs79881792 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr1:200956012G>T ENST00000332129.2 - 26 3965 c.3649C>A c.(3649-3651)Ctg>Atg p.L1217M KIF21B_ENST00000422435.2_Missense_Mutation_p.L1217M|KIF21B_ENST00000461742.2_Missense_Mutation_p.L1217M|KIF21B_ENST00000360529.5_Missense_Mutation_p.L1217M NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 1217 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 CTTCTCGTCAGCGGGGACGTC 0.547000 3 16 1.23904e-05 1.40963e-05 0.014758 1 0 ELK1 2002 broad.mit.edu 37 X 47496438 47496438 + Missense_Mutation SNP G G A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chrX:47496438G>A ENST00000247161.3 - 5 1261 c.1162C>T c.(1162-1164)Cgt>Tgt p.R388C ELK1_ENST00000343894.4_Missense_Mutation_p.P95L|ELK1_ENST00000376983.3_Missense_Mutation_p.R388C|ELK1_ENST00000592066.1_Missense_Mutation_p.R334C NM_005229.4 NP_005220.2 P19419 ELK1_HUMAN ELK1, member of ETS oncogene family 388 Sufficient for interaction with MAD2L2. innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|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 protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2) 10 GCCGGGCTACGGGGCGCAATG 0.617000 3 12 0 0 0.009096 0 0 ZFPM2 23414 broad.mit.edu 37 8 106431376 106431376 + Silent SNP G G T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr8:106431376G>T ENST00000407775.2 + 2 295 c.45G>T c.(43-45)ccG>ccT p.P15P ZFPM2_ENST00000520492.1_5'UTR NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 15 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) TTCAAGGGCCGCTTGAAGATG 0.398000 11 29 2.27111e-07 2.7428e-07 0.093190 1 0 DSG3 1830 broad.mit.edu 37 18 29036401 29036401 + Splice_Site SNP A A T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr18:29036401A>T ENST00000257189.4 + 2 131 c.e2-1 NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) AAATGTCTGCAGGTGGTCATA 0.244000 8 48 0 0 0.080935 0 0 PCDH19 57526 broad.mit.edu 37 X 99662938 99662938 + Missense_Mutation SNP C C A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chrX:99662938C>A ENST00000373034.4 - 1 2333 c.658G>T c.(658-660)Ggc>Tgc p.G220C PCDH19_ENST00000420881.2_Missense_Mutation_p.G220C|PCDH19_ENST00000255531.7_Missense_Mutation_p.G220C NM_001184880.1 NP_001171809.1 Q8TAB3 PCD19_HUMAN protocadherin 19 220 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 68 CCAACGGTGCCCAGGCGCGGC 0.607000 7 18 1.52009e-12 2.06627e-12 0.132662 1 0 FAM155B 27112 broad.mit.edu 37 X 68749571 68749571 + Silent SNP G G A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chrX:68749571G>A ENST00000252338.4 + 3 1233 c.1191G>A c.(1189-1191)caG>caA p.Q397Q NM_015686.2 NP_056501.2 O75949 F155B_HUMAN family with sequence similarity 155, member B 398 integral to membrane autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1) 16 accaccaacagtaccatcact 0.592000 5 24 0 0 0.038147 0 0 XIRP2 129446 broad.mit.edu 37 2 168103802 168103802 + Missense_Mutation SNP T T C TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr2:168103802T>C ENST00000409195.1 + 9 5989 c.5900T>C c.(5899-5901)gTt>gCt p.V1967A XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.V1745A|XIRP2_ENST00000295237.9_Missense_Mutation_p.V1967A|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1792 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 ATTCATCAGGTTGCTGTCCAG 0.448000 30 93 0 0 0.050027 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296282 39296282 + Missense_Mutation SNP G G T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr17:39296282G>T ENST00000345847.4 - 1 457 c.458C>A c.(457-459)tCt>tAt p.S153Y NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 149 29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP]. keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 ttcacagcaagaggggcggca 0.662000 4 35 0.00909568 0.0096488 0.009096 1 0 SHOC2 8036 broad.mit.edu 37 10 112724437 112724437 + Missense_Mutation SNP A A T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr10:112724437A>T ENST00000369452.4 + 2 666 c.321A>T c.(319-321)ttA>ttT p.L107F SHOC2_ENST00000265277.5_Missense_Mutation_p.L107F|SHOC2_ENST00000489390.1_Intron NM_007373.3 NP_031399.2 Q9UQ13 SHOC2_HUMAN soc-2 suppressor of clear homolog (C. elegans) 107 fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction nucleus|protein phosphatase type 1 complex protein phosphatase binding|protein phosphatase regulator activity breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2) 17 Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126) GTTTGGACTTATCCAAGAGAT 0.408000 26 170 0 0 0.108266 0 0 FRMPD3 84443 broad.mit.edu 37 X 106845567 106845567 + Missense_Mutation SNP C C G TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chrX:106845567C>G ENST00000276185.4 + 16 4397 c.4397C>G c.(4396-4398)cCc>cGc p.P1466R Q5JV73 FRPD3_HUMAN FERM and PDZ domain containing 3 1466 cytoskeleton breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1) 28 GCAAGCCTCCCCATAGCCTTG 0.637000 6 30 0 0 0.058154 0 0 PTPRE 5791 broad.mit.edu 37 10 129868648 129868648 + Missense_Mutation SNP G G T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr10:129868648G>T ENST00000254667.3 + 14 1506 c.1227G>T c.(1225-1227)aaG>aaT p.K409N PTPRE_ENST00000419012.2_Missense_Mutation_p.K409N|PTPRE_ENST00000306042.5_Missense_Mutation_p.K351N NM_006504.4 NP_006495.1 P23469 PTPRE_HUMAN protein tyrosine phosphatase, receptor type, E 409 negative regulation of insulin receptor signaling pathway|protein phosphorylation cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 22 all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203) CCCTGGAGAAGCACCTGCAGA 0.587000 12 82 1.3612e-06 1.60082e-06 0.132662 1 0 TRIM33 51592 broad.mit.edu 37 1 114952807 114952807 + Splice_Site SNP T T A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr1:114952807T>A ENST00000358465.2 - 12 2276 c.2194_splice c.e12+1 p.S731_splice TRIM33_ENST00000450349.2_Splice_Site_p.S363_splice|TRIM33_ENST00000369543.2_Splice_Site_p.S731_splice NM_015906.3 NP_056990.3 Q9UPN9 TRI33_HUMAN tripartite motif containing 33 731 negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent nucleus co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 48 all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184) all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TTGCTTTACCTGATGATCCCG 0.423000 T RET papillary thyroid 16 92 0 0 0.043863 0 0 RASSF2 9770 broad.mit.edu 37 20 4771116 4771116 + Missense_Mutation SNP C C A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr20:4771116C>A ENST00000379400.3 - 7 713 c.518G>T c.(517-519)gGc>gTc p.G173V RASSF2_ENST00000478553.1_5'UTR|RASSF2_ENST00000379376.2_Missense_Mutation_p.G173V NM_014737.2 NP_055552.1 P50749 RASF2_HUMAN Ras association (RalGDS/AF-6) domain family member 2 173 cell cycle|signal transduction nucleus protein binding p.G173V(1) endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2) 34 GTAGAAATGGCCGTTGATGGA 0.597000 11 15 2.27111e-07 2.7428e-07 0.093190 1 0 DZIP3 9666 broad.mit.edu 37 3 108344739 108344739 + Silent SNP C C A rs140722866 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr3:108344739C>A ENST00000361582.3 + 7 734 c.504C>A c.(502-504)atC>atA p.I168I DZIP3_ENST00000463306.1_Silent_p.I168I NM_014648.3 NP_055463.1 Q86Y13 DZIP3_HUMAN DAZ interacting zinc finger protein 3 168 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 45 AGATGATGATCCAAGAAAATG 0.308000 17 59 2.48551e-13 3.45331e-13 0.033300 1 0 FAM83B 222584 broad.mit.edu 37 6 54806246 54806246 + Nonsense_Mutation SNP C C A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr6:54806246C>A ENST00000306858.7 + 5 2593 c.2477C>A c.(2476-2478)tCa>tAa p.S826* NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 826 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) AAAGTTGATTCATCTCCTAGA 0.383000 3 47 0.115264 0.118277 0.115264 1 0 NAGA 4668 broad.mit.edu 37 22 42464516 42464516 + Missense_Mutation SNP G G C TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr22:42464516G>C ENST00000396398.3 - 2 611 c.79C>G c.(79-81)Ccc>Gcc p.P27A NAGA_ENST00000402937.1_Missense_Mutation_p.P27A|NAGA_ENST00000403363.1_Missense_Mutation_p.P27A NM_000262.2 NP_000253.1 P17050 NAGAB_HUMAN N-acetylgalactosaminidase, alpha- 27 glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process lysosome alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 11 CAGCCCATGGGTGGTGTCTGC 0.567000 17 22 0 0 0.069288 0 0 TRPC1 7220 broad.mit.edu 37 3 142499778 142499778 + Silent SNP G G T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr3:142499778G>T ENST00000273482.6 + 5 1156 c.765G>T c.(763-765)acG>acT p.T255T TRPC1_ENST00000476941.1_Silent_p.T289T NM_003304.4 NP_003295.1 P48995 TRPC1_HUMAN transient receptor potential cation channel, subfamily C, member 1 289 axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion cytosol|integral to plasma membrane protein binding|store-operated calcium channel activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1) 37 TAAACCATACGTCTAGTGACG 0.378000 11 50 1.05317e-09 1.37218e-09 0.119110 1 0 DNMT3B 1789 broad.mit.edu 37 20 31368194 31368194 + Missense_Mutation SNP T T C TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr20:31368194T>C ENST00000328111.2 + 2 386 c.65T>C c.(64-66)cTc>cCc p.L22P DNMT3B_ENST00000348286.2_Missense_Mutation_p.L22P|DNMT3B_ENST00000375623.4_Missense_Mutation_p.L22P|DNMT3B_ENST00000201963.3_Missense_Mutation_p.L34P|DNMT3B_ENST00000443239.3_Missense_Mutation_p.L22P|DNMT3B_ENST00000456297.2_Missense_Mutation_p.L22P|DNMT3B_ENST00000353855.2_Missense_Mutation_p.L22P|DNMT3B_ENST00000344505.4_Missense_Mutation_p.L22P NM_006892.3 NP_008823.1 Q9UBC3 DNM3B_HUMAN DNA (cytosine-5-)-methyltransferase 3 beta 22 Interaction with DNMT1 and DNMT3A. negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation metal ion binding|protein binding|transcription corepressor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GACTCGATCCTCGTCAACGGG 0.642000 6 11 0 0 0.038147 0 0 HK3 3101 broad.mit.edu 37 5 176310847 176310847 + Silent SNP G G A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr5:176310847G>A ENST00000292432.5 - 15 2068 c.1977C>T c.(1975-1977)gcC>gcT p.A659A NM_002115.2 NP_002106.2 P52790 HXK3_HUMAN hexokinase 3 (white cell) 659 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CATTGACAATGGCAACCACAT 0.572000 9 17 0 0 0.105934 0 0 SEMA3A 10371 broad.mit.edu 37 7 83592525 83592525 + Missense_Mutation SNP T T A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr7:83592525T>A ENST00000265362.3 - 16 2170 c.1856A>T c.(1855-1857)gAa>gTa p.E619V SEMA3A_ENST00000436949.1_Missense_Mutation_p.E619V NM_006080.2 NP_006071.1 Q14563 SEM3A_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A 619 Ig-like C2-type. axon guidance extracellular region|membrane receptor activity breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 CTGTACCTCTTCTTTTCGCTC 0.393000 49 152 0 0 0.139131 0 0 PRSS58 136541 broad.mit.edu 37 7 141955425 141955425 + Missense_Mutation SNP C C A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr7:141955425C>A ENST00000552471.1 - 2 428 c.109G>T c.(109-111)Gac>Tac p.D37Y PRSS58_ENST00000547058.2_Missense_Mutation_p.D37Y Q8IYP2 PRS58_HUMAN protease, serine, 58 37 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2) 19 GGCAAGTAGTCAGATTTCAAA 0.473000 74 68 2.17402e-21 3.28193e-21 0.139131 1 0 TP53 7157 broad.mit.edu 37 17 7577518 7577518 + Missense_Mutation SNP T T A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr17:7577518T>A ENST00000420246.2 - 7 895 c.763A>T c.(763-765)Atc>Ttc p.I255F TP53_ENST00000445888.2_Missense_Mutation_p.I255F|TP53_ENST00000269305.4_Missense_Mutation_p.I255F|TP53_ENST00000413465.2_Missense_Mutation_p.I255F|TP53_ENST00000455263.2_Missense_Mutation_p.I255F|TP53_ENST00000359597.4_Missense_Mutation_p.I255F NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 255 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity). I -> F (in sporadic cancers; somatic mutation).|I -> M (in sporadic cancers; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.I255F(20)|p.0?(8)|p.I255del(7)|p.I255fs*9(3)|p.I255V(3)|p.T253_I255del(2)|p.I255fs*8(1)|p.?(1)|p.I254fs*7(1)|p.I254_T256del(1)|p.R249_T256delRPILTIIT(1)|p.I255fs*90(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TCCAGTGTGATGATGGTGAGG 0.582000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 14 41 0 0 0.132662 0 0 THRA 7067 broad.mit.edu 37 17 38245627 38245627 + Missense_Mutation SNP G G T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr17:38245627G>T ENST00000450525.2 + 9 1642 c.1151G>T c.(1150-1152)cGc>cTc p.R384L THRA_ENST00000584985.1_Intron|THRA_ENST00000394121.4_Intron|THRA_ENST00000264637.4_Intron|THRA_ENST00000546243.1_Missense_Mutation_p.R384L NM_199334.3 NP_955366.1 P10827 THA_HUMAN thyroid hormone receptor, alpha 451 negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter cytosol|nucleoplasm protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1) 11 Colorectal(19;0.000442) Myeloproliferative disorder(1115;0.0255) Levothyroxine(DB00451)|Liothyronine(DB00279) CACGCCAGCCGCTTCCTCCAC 0.587000 8 22 3.8784e-16 5.74443e-16 0.062417 1 0 SIGLEC10 89790 broad.mit.edu 37 19 51918646 51918646 + Silent SNP G G T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr19:51918646G>T ENST00000353836.5 - 7 1340 c.1119C>A c.(1117-1119)ggC>ggA p.G373G SIGLEC10_ENST00000439889.2_Silent_p.G315G|SIGLEC10_ENST00000432469.2_Silent_p.G290G|SIGLEC10_ENST00000356298.5_Silent_p.G373G|SIGLEC10_ENST00000442846.3_Silent_p.G225G|SIGLEC10_ENST00000441969.3_Silent_p.G315G|SIGLEC10_ENST00000339313.5_Silent_p.G373G|SIGLEC10_ENST00000436984.2_Silent_p.G325G|SIGLEC10_ENST00000525998.1_Silent_p.G283G NM_001171157.1|NM_001171158.1|NM_001171159.1 NP_001164628.1|NP_001164629.1|NP_001164630.1 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 373 Ig-like C2-type 3. cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) ACAGGCTTTGGCCCTCCAGTA 0.627000 7 45 7.48243e-07 8.86597e-07 0.058154 1 0 CPA1 1357 broad.mit.edu 37 7 130020972 130020972 + Silent SNP G G A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr7:130020972G>A ENST00000011292.3 + 2 249 c.99G>A c.(97-99)gaG>gaA p.E33E CPA1_ENST00000484324.1_5'UTR NM_001868.2 NP_001859.1 P15085 CBPA1_HUMAN carboxypeptidase A1 (pancreatic) 33 proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1) 21 Melanoma(18;0.0435) TAGCCGATGAGGCCCAGGTAC 0.637000 6 18 0 0 0.047766 0 0 CSMD1 64478 broad.mit.edu 37 8 3047572 3047572 + Missense_Mutation SNP C C A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr8:3047572C>A ENST00000520002.1 - 35 5818 c.5263G>T c.(5263-5265)Ggt>Tgt p.G1755C CSMD1_ENST00000542608.1_Missense_Mutation_p.G1754C|CSMD1_ENST00000539096.1_Missense_Mutation_p.G1754C|CSMD1_ENST00000537824.1_Missense_Mutation_p.G1754C|CSMD1_ENST00000400186.3_Missense_Mutation_p.G1755C|CSMD1_ENST00000602723.1_Missense_Mutation_p.G1755C|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602557.1_Missense_Mutation_p.G1755C Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1755 Sushi 10. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) AACTCAGAACCAATTCTCCTT 0.572000 4 9 1.23904e-05 1.40963e-05 0.014758 1 0 PCDHB17P 54661 broad.mit.edu 37 5 140536976 140536976 + Missense_Mutation SNP C C A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr5:140536976C>A ENST00000539533.1 + 1 1400 c.1400C>A c.(1399-1401)cCc>cAc p.P467H AACAACAGCCCCGCCCTGCAC 0.632000 29 86 2.48909e-17 3.72178e-17 0.139131 1 0 F11R 50848 broad.mit.edu 37 1 160970066 160970066 + Missense_Mutation SNP G G A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr1:160970066G>A ENST00000368026.6 - 5 735 c.461C>T c.(460-462)tCa>tTa p.S154L F11R_ENST00000289779.3_3'UTR|F11R_ENST00000472573.1_5'UTR|F11R_ENST00000537746.1_Missense_Mutation_p.S105L NM_016946.4 NP_058642.1 Q9Y624 JAM1_HUMAN F11 receptor 154 Ig-like V-type 2. blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly integral to membrane|tight junction breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2) 12 all_cancers(52;6.73e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00207) ATCTTGTTCTGAGCATGTCAG 0.522000 9 57 0 0 0.093190 0 0 KRTAP15-1 254950 broad.mit.edu 37 21 31812895 31812895 + Missense_Mutation SNP T T A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr21:31812895T>A ENST00000334067.3 + 1 299 c.250T>A c.(250-252)Tgc>Agc p.C84S NM_181623.1 NP_853654.1 Q3LI76 KR151_HUMAN keratin associated protein 15-1 84 intermediate filament kidney(1)|large_intestine(3)|lung(6)|skin(1) 11 TTCCATCTTCTGCAGTCCCCG 0.517000 57 121 0 0 0.139131 0 0 SSH2 85464 broad.mit.edu 37 17 28004720 28004720 + Silent SNP G G A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr17:28004720G>A ENST00000269033.3 - 6 589 c.438C>T c.(436-438)agC>agT p.S146S RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Silent_p.S173S|SSH2_ENST00000324677.7_5'UTR NM_033389.2 NP_203747.2 Q76I76 SSH2_HUMAN slingshot protein phosphatase 2 146 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity SSH2/SUZ12(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TTAGCGTGTCGCTCCAGAGAG 0.443000 25 92 0 0 0.045705 0 0 H2BFM 286436 broad.mit.edu 37 X 103294617 103294617 + Missense_Mutation SNP C C A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chrX:103294617C>A ENST00000243297.5 + 3 383 c.383C>A c.(382-384)cCc>cAc p.P128H H2BFM_ENST00000355016.3_Missense_Mutation_p.P25H H2B histone family, member M endometrium(1)|lung(1)|ovary(1) 3 ATCCAGGAGCCCAAAGAGGCC 0.637000 3 11 0.115264 0.118277 0.115264 1 0 OR4N4 283694 broad.mit.edu 37 15 22382663 22382663 + Missense_Mutation SNP G G T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr15:22382663G>T ENST00000328795.4 + 1 282 c.191G>T c.(190-192)gGc>gTc p.G64V RP11-69H14.6_ENST00000558896.1_RNA NM_001005241.2 NP_001005241.2 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, member 4 64 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TTATTTCTGGGCAACTTGGCC 0.463000 21 254 1.90571e-15 2.78322e-15 0.069456 1 0 TRIM33 51592 broad.mit.edu 37 1 114952806 114952806 + Splice_Site SNP C C A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr1:114952806C>A ENST00000358465.2 - 12 2277 c.2194_splice c.e12+1 p.G732_splice TRIM33_ENST00000450349.2_Splice_Site_p.G364_splice|TRIM33_ENST00000369543.2_Splice_Site_p.G732_splice NM_015906.3 NP_056990.3 Q9UPN9 TRI33_HUMAN tripartite motif containing 33 732 negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent nucleus co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 48 all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184) all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TTTGCTTTACCTGATGATCCC 0.428000 T RET papillary thyroid 16 92 2.94398e-08 3.71249e-08 0.043863 1 0 AVL9 23080 broad.mit.edu 37 7 32609734 32609734 + Missense_Mutation SNP C C A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr7:32609734C>A ENST00000318709.4 + 11 1539 c.1318C>A c.(1318-1320)Caa>Aaa p.Q440K AVL9_ENST00000404479.1_Intron|AVL9_ENST00000409301.1_Missense_Mutation_p.Q440K NM_015060.1 NP_055875.1 Q8NBF6 AVL9_HUMAN AVL9 homolog (S. cerevisiase) 440 integral to membrane endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 CCTTTTTCGACAACAGAAACA 0.443000 19 108 1.00905e-13 1.41447e-13 0.049695 1 0 EPHA7 2045 broad.mit.edu 37 6 93956625 93956625 + Missense_Mutation SNP C C T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr6:93956625C>T ENST00000369303.4 - 15 2795 c.2611G>A c.(2611-2613)Gat>Aat p.D871N NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 871 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) TGCCAACAATCCAACATTAGC 0.418000 16 62 0 0 0.033300 0 0 RYR2 6262 broad.mit.edu 37 1 237586495 237586495 + Missense_Mutation SNP G G C TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr1:237586495G>C ENST00000366574.2 + 12 1269 c.952G>C c.(952-954)Gac>Cac p.D318H RYR2_ENST00000360064.6_Missense_Mutation_p.D316H|RYR2_ENST00000542537.1_Missense_Mutation_p.D302H NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 318 MIR 4. 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) TCTACTCATGGACAAAGAGAA 0.423000 16 65 0 0 0.146539 0 0 ABI3BP 25890 broad.mit.edu 37 3 100568898 100568898 + Missense_Mutation SNP T T A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr3:100568898T>A ENST00000471714.1 - 17 1622 c.1513A>T c.(1513-1515)Acg>Tcg p.T505S ABI3BP_ENST00000495063.1_Missense_Mutation_p.T505S|ABI3BP_ENST00000284322.5_Missense_Mutation_p.T456S Q7Z7G0 TARSH_HUMAN ABI family, member 3 (NESH) binding protein 456 Pro-rich. extracellular space central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 50 CCAGGTGTCGTAGGCTGCATT 0.383000 6 26 0 0 0.038147 0 0 LGALS13 29124 broad.mit.edu 37 19 40095876 40095876 + Missense_Mutation SNP G G T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr19:40095876G>T ENST00000221797.4 + 3 196 c.151G>T c.(151-153)Gcc>Tcc p.A51S NM_013268.2 NP_037400.1 Q9UHV8 PP13_HUMAN lectin, galactoside-binding, soluble, 13 51 Galectin. lipid catabolic process|phospholipid metabolic process carboxylesterase activity|lysophospholipase activity|sugar binding lung(5)|ovary(1)|urinary_tract(1) 7 all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116) Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281) TTCAGATATTGCCTTCCGTTT 0.507000 16 66 0.000566183 0.000619448 0.033300 1 0 SPAG17 200162 broad.mit.edu 37 1 118565977 118565977 + Missense_Mutation SNP G G T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr1:118565977G>T ENST00000336338.5 - 28 4084 c.4019C>A c.(4018-4020)tCt>tAt p.S1340Y NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1340 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) TTTCTGCTGAGAAATAGAGTC 0.423000 14 90 9.16793e-09 1.16078e-08 0.033300 1 0 C4BPA 722 broad.mit.edu 37 1 207286344 207286344 + Splice_Site SNP A A C TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr1:207286344A>C ENST00000367070.3 + 2 169 c.e2-1 NM_000715.3 NP_000706.1 P04003 C4BPA_HUMAN complement component 4 binding protein, alpha complement activation, classical pathway|innate immune response extracellular region protein binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2) 28 TTCTTTCAGCAGAAAAACATC 0.428000 24 93 0 0 0.125774 0 0 BRCA2 675 broad.mit.edu 37 13 32906434 32906434 + Silent SNP A A T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr13:32906434A>T ENST00000544455.1 + 10 1046 c.819A>T c.(817-819)tcA>tcT p.S273S BRCA2_ENST00000380152.3_Silent_p.S273S NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 273 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) CAGGGAATTCATTTAAAGTAA 0.303000 """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) 7 23 0 0 0.047766 0 0 CLMN 79789 broad.mit.edu 37 14 95682072 95682072 + Splice_Site SNP T T A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr14:95682072T>A ENST00000298912.4 - 5 438 c.e5-2 NM_024734.3 NP_079010.2 Q96JQ2 CLMN_HUMAN calmin (calponin-like, transmembrane) integral to membrane actin binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3) 44 Epithelial(152;0.193) CAGTTTTACCTGGAGGGAAGC 0.433000 6 14 0 0 0.038147 0 0 ASCC2 84164 broad.mit.edu 37 22 30197038 30197038 + Nonsense_Mutation SNP C C A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr22:30197038C>A ENST00000397771.2 - 16 1807 c.1630G>T c.(1630-1632)Gag>Tag p.E544* ASCC2_ENST00000542393.1_Nonsense_Mutation_p.E468*|ASCC2_ENST00000307790.3_Nonsense_Mutation_p.E544* Q9H1I8 ASCC2_HUMAN activating signal cointegrator 1 complex subunit 2 544 regulation of transcription, DNA-dependent|transcription, DNA-dependent endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259) ACATCAAACTCGTCATTCTGG 0.567000 4 142 0.014758 0.0156027 0.014758 1 0 IGSF21 84966 broad.mit.edu 37 1 18692124 18692124 + Missense_Mutation SNP G G T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr1:18692124G>T ENST00000251296.1 + 6 1331 c.948G>T c.(946-948)gaG>gaT p.E316D NM_032880.4 NP_116269.3 Q96ID5 IGS21_HUMAN immunoglobin superfamily, member 21 316 extracellular region endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 40 Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157) TCGACAACGAGGCCCTCTTCA 0.632000 25 97 9.65021e-13 1.32322e-12 0.045705 1 0 DYNC1H1 1778 broad.mit.edu 37 14 102505474 102505474 + Silent SNP C C T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr14:102505474C>T ENST00000360184.4 + 60 11507 c.11343C>T c.(11341-11343)acC>acT p.T3781T RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 3781 AAA 5 (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 CAGAGGTCACCAGGAAAGTTG 0.547000 14 27 0 0 0.146539 0 0 FLG 2312 broad.mit.edu 37 1 152285700 152285700 + Missense_Mutation SNP C C A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr1:152285700C>A ENST00000368799.1 - 3 1697 c.1662G>T c.(1660-1662)agG>agT p.R554S FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 554 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) AGGCATCAGACCTTCCCTGGG 0.562000 Ichthyosis 45 177 5.82218e-30 9.14082e-30 0.139131 1 0 AK2 204 broad.mit.edu 37 1 33478834 33478834 + Missense_Mutation SNP A A G TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr1:33478834A>G ENST00000373449.2 - 6 709 c.668T>C c.(667-669)aTc>aCc p.I223T AK2_ENST00000480134.1_3'UTR|RP1-117O3.2_ENST00000427524.1_RNA|AK2_ENST00000354858.6_Missense_Mutation_p.I223T|AK2_ENST00000467905.1_Missense_Mutation_p.I223T|AK2_ENST00000548033.1_Missense_Mutation_p.I181T|AK2_ENST00000491241.1_5'UTR NM_001199199.1|NM_013411.4 NP_001186128.1|NP_037543.1 P54819 KAD2_HUMAN adenylate kinase 2 223 nucleobase, nucleoside and nucleotide interconversion mitochondrial intermembrane space adenylate kinase activity|ATP binding kidney(1)|large_intestine(2)|lung(4)|skin(1) 8 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) GGCTGCTAGGATGCTTGCGAA 0.498000 3 89 0 0 0.047766 0 0 WWC3 55841 broad.mit.edu 37 X 10109476 10109476 + Splice_Site SNP G G C TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chrX:10109476G>C ENST00000380861.4 + 23 3605 c.3212_splice c.e23-1 p.E1072_splice WWC3_ENST00000454666.1_Splice_Site_p.E1072_splice NM_015691.3 NP_056506.2 Q9ULE0 WWC3_HUMAN WWC family member 3 1072 NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 52 CGGTCCCAGGGAGAAGATAGC 0.463000 9 54 0 0 0.058154 0 0 ZSCAN5B 342933 broad.mit.edu 37 19 56703226 56703226 + Missense_Mutation SNP C C A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr19:56703226C>A ENST00000586855.2 - 3 894 c.581G>T c.(580-582)aGg>aTg p.R194M ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.R194M A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 194 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 CACCTGCCTCCTGGACAGTGC 0.612000 5 44 0.000274275 0.000302184 0.047766 1 0 KRT4 3851 broad.mit.edu 37 12 53205732 53205732 + Silent SNP G G T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr12:53205732G>T ENST00000551956.1 - 2 984 c.492C>A c.(490-492)gtC>gtA p.V164V KRT4_ENST00000458244.2_Silent_p.V144V|KRT4_ENST00000293774.4_Silent_p.V238V B4DRS2 B4DRS2_HUMAN keratin 4 164 keratin filament structural molecule activity endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2) 29 TGGTCTCCAGGACCTTATTCT 0.547000 10 20 3.86212e-05 4.33109e-05 0.069234 1 0 LOC644669 644669 broad.mit.edu 37 18 15316704 15316704 + RNA SNP G G T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr18:15316704G>T ENST00000455308.2 - 0 719 NR_027417.1 GCTTTCAGCCGTGTCAGGTGT 0.423000 5 19 0.00116845 0.0012608 0.021553 1 0 RHOH 399 broad.mit.edu 37 4 40245314 40245314 + Missense_Mutation SNP G G C TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr4:40245314G>C ENST00000381799.4 + 3 1032 c.308G>C c.(307-309)aGg>aCg p.R103T RHOH_ENST00000505618.1_Missense_Mutation_p.R103T NM_001278363.1|NM_001278365.1|NM_004310.3 NP_001265292.1|NP_001265294.1|NP_004301.1 Q15669 RHOH_HUMAN ras homolog family member H 103 negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation cytosol|mitochondrion|plasma membrane GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding kidney(1)|large_intestine(3)|lung(7)|ovary(1) 12 GGTGAAATTAGGAGCAACTTG 0.577000 19 44 0 0 0.038395 0 0 TG 7038 broad.mit.edu 37 8 133906050 133906050 + Silent SNP G G A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr8:133906050G>A ENST00000220616.4 + 11 2917 c.2877G>A c.(2875-2877)gtG>gtA p.V959V TG_ENST00000377869.1_Silent_p.V959V NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 959 Thyroglobulin type-1 8. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GTTTCCTGGTGGCCAAGGGAA 0.572000 67 119 0 0 0.139131 0 0 PCDHB7 56129 broad.mit.edu 37 5 140553933 140553933 + Missense_Mutation SNP T T A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr5:140553933T>A ENST00000231137.3 + 1 1691 c.1517T>A c.(1516-1518)aTc>aAc p.I506N NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 506 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTGGTCTCCATCAACGCGGAC 0.687000 13 36 0 0 0.033300 0 0 ACTRT1 139741 broad.mit.edu 37 X 127185705 127185705 + Missense_Mutation SNP C C A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chrX:127185705C>A ENST00000371124.3 - 1 677 c.481G>T c.(481-483)Ggg>Tgg p.G161W NM_138289.3 NP_612146.1 Q8TDG2 ACTT1_HUMAN actin-related protein T1 161 cytoplasm|cytoskeleton breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 34 CAAGTGACCCCATCTCCACTG 0.572000 95 263 1.72158e-54 2.80092e-54 0.139131 1 0 MMP21 118856 broad.mit.edu 37 10 127464357 127464357 + Missense_Mutation SNP G G T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr10:127464357G>T ENST00000368808.3 - 1 33 c.34C>A c.(34-36)Ctg>Atg p.L12M NM_147191.1 NP_671724.1 Q8N119 MMP21_HUMAN matrix metallopeptidase 21 12 proteolysis extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1) 16 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) CAGCAGAGCAGCAGTGTCGGA 0.677000 4 51 5.18039e-06 6.00237e-06 0.038147 1 0 CBL 867 broad.mit.edu 37 11 119145632 119145632 + Missense_Mutation SNP C C T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr11:119145632C>T ENST00000264033.4 + 5 1214 c.838C>T c.(838-840)Cgg>Tgg p.R280W NM_005188.3 NP_005179.2 P22681 CBL_HUMAN Cbl proto-oncogene, E3 ubiquitin protein ligase 280 Cbl-PTB.|SH2-like. epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 251 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) AGTGAAAGCTCGGCTCCAGAA 0.428000 """T, Mis S, O""" MLL """AML, JMML, MDS""" Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies 10 61 0 0 0.119110 0 0 CEP170 9859 broad.mit.edu 37 1 243362479 243362479 + Missense_Mutation SNP G G A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr1:243362479G>A ENST00000366542.1 - 7 565 c.514C>T c.(514-516)Cgt>Tgt p.R172C CEP170_ENST00000366543.1_Missense_Mutation_p.R172C|CEP170_ENST00000366544.1_Missense_Mutation_p.R172C NM_014812.2 NP_055627.2 Q5SW79 CE170_HUMAN centrosomal protein 170kDa 172 centriole|microtubule|spindle NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 62 all_neural(11;0.101) all_cancers(173;0.003) all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101) GGAGTACCACGGGGCATAGCA 0.433000 6 27 0 0 0.047766 0 0 KRAS 3845 broad.mit.edu 37 12 25398282 25398282 + Missense_Mutation SNP C C A rs121913535 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr12:25398282C>A ENST00000311936.3 - 2 228 c.37G>T c.(37-39)Ggc>Tgc p.G13C KRAS_ENST00000557334.1_Missense_Mutation_p.G13C|KRAS_ENST00000556131.1_Missense_Mutation_p.G13C|KRAS_ENST00000256078.4_Missense_Mutation_p.G13C NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 13 G -> D (in a breast carcinoma cell line and GASC; somatic mutation).|G -> R (in pylocytic astrocytoma; somatic mutation; increase activation of the Ras pathway). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G13C(213)|p.G13S(59)|p.G13R(43)|p.G12_G13insG(3)|p.G13N(1)|p.G13I(1)|p.G12_G13insA(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) TTGCCTACGCCACCAGCTCCA 0.343000 G13C(MORCPR_LUNG)|G13C(NCIH1355_LUNG)|G13C(NCIH1734_LUNG)|G13C(TOV21G_OVARY) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 7 8 0.0477658 0.0499948 0.047766 1 0 ZDHHC18 84243 broad.mit.edu 37 1 27176877 27176877 + Silent SNP C C G TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr1:27176877C>G ENST00000374142.3 + 4 827 c.732C>G c.(730-732)ctC>ctG p.L244L NM_032283.2 NP_115659.1 Q9NUE0 ZDH18_HUMAN zinc finger, DHHC-type containing 18 244 integral to membrane zinc ion binding endometrium(1)|large_intestine(2) 3 all_cancers(24;5.82e-22)|all_epithelial(13;9.91e-20)|Colorectal(325;0.000147)|Breast(348;0.000706)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;5.71e-53)|Epithelial(14;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(117;1.53e-29)|Colorectal(126;1.9e-09)|COAD - Colon adenocarcinoma(152;4.2e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000548)|STAD - Stomach adenocarcinoma(196;0.00065)|KIRC - Kidney renal clear cell carcinoma(1967;0.000779)|GBM - Glioblastoma multiforme(114;0.0265)|READ - Rectum adenocarcinoma(331;0.0455)|Lung(427;0.163)|LUSC - Lung squamous cell carcinoma(448;0.237) TTCTCTCCCTCTCATTCCTGA 0.572000 4 33 0 0 0.014758 0 0 ROR2 4920 broad.mit.edu 37 9 94486414 94486414 + Missense_Mutation SNP C C A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr9:94486414C>A ENST00000375708.3 - 9 2560 c.2362G>T c.(2362-2364)Ggg>Tgg p.G788W ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 788 Pro-rich. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding p.G788W(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 TGCTTGGGCCCCACGTAGCGG 0.667000 20 41 1.64293e-13 2.2928e-13 0.083992 1 0 ITK 3702 broad.mit.edu 37 5 156608054 156608054 + Silent SNP T T C TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr5:156608054T>C ENST00000422843.3 + 1 218 c.66T>C c.(64-66)tcT>tcC p.S22S NM_005546.3 NP_005537.3 Q08881 ITK_HUMAN IL2-inducible T-cell kinase 22 PH. cellular defense response|intracellular signal transduction|T cell receptor signaling pathway cytosol|plasma membrane ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 70 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.1) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GAAGAACTTCTCCCTCGAACT 0.428000 T SYK peripheral T-cell lymphoma 13 66 0 0 0.093190 0 0 ACOT12 134526 broad.mit.edu 37 5 80626271 80626271 + Missense_Mutation SNP G G T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr5:80626271G>T ENST00000307624.3 - 15 1638 c.1610C>A c.(1609-1611)gCc>gAc p.A537D ACOT12_ENST00000508234.1_5'UTR NM_130767.2 NP_570123.1 Q8WYK0 ACO12_HUMAN acyl-CoA thioesterase 12 537 START. acyl-CoA metabolic process|fatty acid metabolic process cytosol acetyl-CoA hydrolase activity|carboxylesterase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2) 23 Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34) TATACAAGAGGCTGCTGTTTC 0.368000 20 28 5.26018e-13 7.24428e-13 0.062417 1 0 USH2A 7399 broad.mit.edu 37 1 216256892 216256892 + Missense_Mutation SNP C C A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr1:216256892C>A ENST00000366943.2 - 26 5590 c.5204G>T c.(5203-5205)gGa>gTa p.G1735V RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000442606.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.G1735V|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 1735 Laminin G-like 2. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AAAGTTCATTCCACCATGAAA 0.333000 HNSCC(13;0.011) 33 128 3.11337e-16 4.63317e-16 0.054565 1 0 TP53TG5 27296 broad.mit.edu 37 20 44004176 44004176 + Missense_Mutation SNP T T A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr20:44004176T>A ENST00000372726.3 - 4 427 c.271A>T c.(271-273)Aat>Tat p.N91Y TP53TG5_ENST00000537995.1_Missense_Mutation_p.N75Y|SYS1-DBNDD2_ENST00000452133.1_Intron|TP53TG5_ENST00000494455.1_5'UTR|SYS1-DBNDD2_ENST00000475242.1_Intron|SYS1_ENST00000426004.1_3'UTR NM_014477.2 NP_055292.1 Q9Y2B4 T53G5_HUMAN TP53 target 5 91 intracellular signal transduction|negative regulation of cell growth cytoplasm|nucleus central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1) 12 TTTGTTTTATTGCAGGCACTG 0.507000 13 38 0 0 0.093190 0 0 TRAT1 50852 broad.mit.edu 37 3 108572676 108572676 + Silent SNP C C T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr3:108572676C>T ENST00000295756.6 + 6 743 c.513C>T c.(511-513)ccC>ccT p.P171P TRAT1_ENST00000426646.1_Silent_p.P134P NM_016388.2 NP_057472.2 Q6PIZ9 TRAT1_HUMAN T cell receptor associated transmembrane adaptor 1 171 cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway integral to plasma membrane|T cell receptor complex phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3) 28 ATGATGATCCCATCAGACTGT 0.428000 31 78 0 0 0.059317 0 0 HOXB1 3211 broad.mit.edu 37 17 46606949 46606949 + Missense_Mutation SNP C C A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr17:46606949C>A ENST00000239174.6 - 2 958 c.866G>T c.(865-867)tGc>tTc p.C289F HOXB1_ENST00000577092.1_3'UTR NM_002144.3 NP_002135.2 P14653 HXB1_HUMAN homeobox B1 289 nucleus protein domain specific binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 CGGGGAGGTGCATGTCGACTG 0.642000 15 38 1.99824e-07 2.45096e-07 0.033300 1 0 RSRC1 51319 broad.mit.edu 37 3 157920997 157920997 + Nonsense_Mutation SNP A A T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr3:157920997A>T ENST00000295930.3 + 4 619 c.457A>T c.(457-459)Aaa>Taa p.K153* RSRC1_ENST00000464171.1_Intron|RSRC1_ENST00000312179.6_Intron|RSRC1_ENST00000496268.1_3'UTR|RSRC1_ENST00000480820.1_Nonsense_Mutation_p.K153*|RSRC1_ENST00000475278.2_Nonsense_Mutation_p.K153* NM_001271838.1|NM_016625.2 NP_001258767.1|NP_057709.2 Q96IZ7 RSRC1_HUMAN arginine/serine-rich coiled-coil 1 153 nucleocytoplasmic transport cytoplasm|nuclear speck protein binding cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1) 18 Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575) ggagaaggataaagggaagga 0.433000 14 31 0 0 0.146539 0 0 CCNG1 900 broad.mit.edu 37 5 162869132 162869132 + Missense_Mutation SNP C C T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr5:162869132C>T ENST00000340828.2 + 5 903 c.679C>T c.(679-681)Ctt>Ttt p.L227F CCNG1_ENST00000512163.1_Missense_Mutation_p.L93F|CCNG1_ENST00000510664.1_Missense_Mutation_p.L99F|AC112205.1_ENST00000599797.1_Intron|CCNG1_ENST00000393929.1_Missense_Mutation_p.L227F|CCNG1_ENST00000504553.1_Missense_Mutation_p.L93F|CCNG1_ENST00000511683.2_Missense_Mutation_p.L93F NM_004060.3 NP_004051.1 P51959 CCNG1_HUMAN cyclin G1 227 cell division|mitosis|regulation of cyclin-dependent protein kinase activity nucleus p.L227F(1) autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(2) 12 Renal(175;0.000281) Medulloblastoma(196;0.00853)|all_neural(177;0.0408) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0597)|OV - Ovarian serous cystadenocarcinoma(192;0.107)|Epithelial(171;0.164) AATAGAATGTCTTCAGAAACA 0.358000 8 39 0 0 0.058154 0 0 SLC6A8 6535 broad.mit.edu 37 X 152956967 152956967 + Missense_Mutation SNP C C G rs143019641 byFrequency TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chrX:152956967C>G ENST00000253122.5 + 3 1079 c.603C>G c.(601-603)gaC>gaG p.D201E SLC6A8_ENST00000430077.2_Missense_Mutation_p.D86E NM_001142805.1|NM_005629.3 NP_001136277.1|NP_005620.1 P48029 SC6A8_HUMAN solute carrier family 6 (neurotransmitter transporter), member 8 201 creatine metabolic process|muscle contraction integral to plasma membrane creatine:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1) 13 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) Creatine(DB00148) TCACCTGTGACCAGCTTGCTG 0.632000 9 30 0 0 0.119110 0 0 CD300LG 146894 broad.mit.edu 37 17 41926251 41926251 + Silent SNP C C T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr17:41926251C>T ENST00000317310.4 + 2 410 c.369C>T c.(367-369)ttC>ttT p.F123F CD300LG_ENST00000588884.1_Silent_p.F123F|CD300LG_ENST00000586233.1_Silent_p.F123F|CD300LG_ENST00000539718.1_Silent_p.F123F|CD300LG_ENST00000377203.4_Silent_p.F123F|CD300LG_ENST00000293396.8_Silent_p.F123F NM_145273.3 NP_660316.2 Q6UXG3 CLM9_HUMAN CD300 molecule-like family member g 123 apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane receptor activity central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4) 19 Breast(137;0.0199) BRCA - Breast invasive adenocarcinoma(366;0.115) TCTCTCTGTTCGTCTTTCCAG 0.557000 7 26 0 0 0.029380 0 0 DCUN1D3 123879 broad.mit.edu 37 16 20873760 20873760 + Missense_Mutation SNP G G A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr16:20873760G>A ENST00000324344.3 - 2 386 c.101C>T c.(100-102)gCa>gTa p.A34V DCUN1D3_ENST00000563934.1_Missense_Mutation_p.A34V|ERI2_ENST00000564349.1_Intron NM_173475.2 NP_775746.1 Q8IWE4 DCNL3_HUMAN DCN1, defective in cullin neddylation 1, domain containing 3 34 negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of apoptosis|response to gamma radiation|response to UV-C perinuclear region of cytoplasm NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2) 14 GBM - Glioblastoma multiforme(48;0.249) ACGGTGGCCTGCACCCCTCCT 0.597000 62 210 0 0 0.139131 0 0 KIAA0556 23247 broad.mit.edu 37 16 27788315 27788315 + Missense_Mutation SNP G G C TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr16:27788315G>C ENST00000261588.4 + 25 4535 c.4516G>C c.(4516-4518)Gcg>Ccg p.A1506P NM_015202.2 NP_056017.2 O60303 K0556_HUMAN KIAA0556 1506 breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 76 GTGGAATTATGCGAAAACACC 0.448000 20 83 0 0 0.083992 0 0 ELAVL4 1996 broad.mit.edu 37 1 50666503 50666503 + Missense_Mutation SNP C C A rs116030028 by1000genomes TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr1:50666503C>A ENST00000371821.1 + 7 1126 c.811C>A c.(811-813)Cct>Act p.P271T ELAVL4_ENST00000371827.1_Intron|ELAVL4_ENST00000371819.1_Intron|ELAVL4_ENST00000357083.4_Intron|ELAVL4_ENST00000371823.4_Missense_Mutation_p.P266T|ELAVL4_ENST00000448907.2_Intron|ELAVL4_ENST00000371824.1_Intron P26378 ELAV4_HUMAN ELAV like neuron-specific RNA binding protein 4 266 mRNA processing AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 32 ACCAGTCCCCCCTTCTGCTTG 0.527000 24 186 9.95505e-16 1.46069e-15 0.069288 1 0 PTCHD4 442213 broad.mit.edu 37 6 47846929 47846929 + Missense_Mutation SNP C C A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr6:47846929C>A ENST00000339488.4 - 3 1684 c.1651G>T c.(1651-1653)Gtg>Ttg p.V551L NM_001013732.3 NP_001013754.3 Q6ZW05 CF138_HUMAN patched domain containing 4 551 integral to membrane hedgehog receptor activity TACTGCTCCACCCAGGACACT 0.463000 18 18 3.62473e-10 4.74236e-10 0.062417 1 0 FBN2 2201 broad.mit.edu 37 5 127686693 127686693 + Missense_Mutation SNP G G C TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr5:127686693G>C ENST00000508053.1 - 27 3653 c.2679C>G c.(2677-2679)agC>agG p.S893R FBN2_ENST00000508989.1_Missense_Mutation_p.S860R|FBN2_ENST00000262464.4_Missense_Mutation_p.S893R P35556 FBN2_HUMAN fibrillin 2 893 bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TCCCCTTCAGGCTGTCTGAAA 0.468000 19 59 0 0 0.083992 0 0 RBMX 27316 broad.mit.edu 37 X 135956613 135956613 + Splice_Site SNP T T A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chrX:135956613T>A ENST00000320676.7 - 9 1020 c.e9-2 RBMX_ENST00000431446.3_Intron|RBMX_ENST00000570135.1_Splice_Site|RBMX_ENST00000565438.1_Splice_Site|RBMX_ENST00000562646.1_3'UTR NM_002139.3 NP_002130.2 P38159 HNRPG_HUMAN RNA binding motif protein, X-linked catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1) 33 Acute lymphoblastic leukemia(192;0.000127) GTGAGTTACCTGCAGGGTCAA 0.413000 17 61 0 0 0.069288 0 0 MTMR6 9107 broad.mit.edu 37 13 25835922 25835922 + Missense_Mutation SNP T T A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr13:25835922T>A ENST00000381801.5 - 6 1371 c.610A>T c.(610-612)Agt>Tgt p.S204C MTMR6_ENST00000540661.1_Missense_Mutation_p.S204C|MTMR6_ENST00000482345.1_5'UTR NM_004685.3 NP_004676.3 Q9Y217 MTMR6_HUMAN myotubularin related protein 6 204 Myotubularin phosphatase. cytoplasm|nuclear envelope calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3) 36 Lung SC(185;0.0225)|Breast(139;0.0351) all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164) AGTGGCTGACTACATCGACAA 0.388000 9 12 0 0 0.047766 0 0 KIAA0020 9933 broad.mit.edu 37 9 2820023 2820023 + Missense_Mutation SNP T T C TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr9:2820023T>C ENST00000397885.2 - 13 1470 c.1264A>G c.(1264-1266)Ata>Gta p.I422V NM_014878.4 NP_055693.4 Q15397 K0020_HUMAN KIAA0020 422 PUM-HD. endoplasmic reticulum|nucleolus RNA binding NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1) 21 GBM - Glioblastoma multiforme(50;0.0319) CTTACTGATATGATTATCTGC 0.388000 8 70 0 0 0.038147 0 0 YIPF7 285525 broad.mit.edu 37 4 44638008 44638008 + Missense_Mutation SNP A A G TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr4:44638008A>G ENST00000332990.5 - 3 299 c.283T>C c.(283-285)Tcc>Ccc p.S95P NM_182592.2 NP_872398.2 Q8N8F6 YIPF7_HUMAN Yip1 domain family, member 7 95 endoplasmic reticulum membrane|integral to membrane breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1) 12 TCTGAGTTGGATGCTGGCTGA 0.418000 21 73 0 0 0.069288 0 0 COL24A1 255631 broad.mit.edu 37 1 86304322 86304322 + Splice_Site SNP C C T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr1:86304322C>T ENST00000370571.2 - 43 3994 c.e43-1 COL24A1_ENST00000436319.1_Splice_Site NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) CCACTGGACCCTACAGAGACC 0.398000 39 156 0 0 0.124865 0 0 PCDHB7 56129 broad.mit.edu 37 5 140554452 140554452 + Missense_Mutation SNP A A T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr5:140554452A>T ENST00000231137.3 + 1 2210 c.2036A>T c.(2035-2037)gAc>gTc p.D679V NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 679 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCGGCCCCGGACCAGGCCAAC 0.701000 10 170 0 0 0.080935 0 0 GRIN2B 2904 broad.mit.edu 37 12 14018911 14018911 + Missense_Mutation SNP G G A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr12:14018911G>A ENST00000279593.3 - 2 441 c.232C>T c.(232-234)Cca>Tca p.P78S NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 78 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) ATGCTCTTTGGGTCGGTCTCA 0.552000 75 99 0 0 0.139131 0 0 PAPPA2 60676 broad.mit.edu 37 1 176526298 176526298 + Silent SNP T T A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr1:176526298T>A ENST00000367662.3 + 2 2004 c.840T>A c.(838-840)gcT>gcA p.A280A PAPPA2_ENST00000367661.3_Silent_p.A280A NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 280 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 AAGTGCTGGCTGAGATTCCCC 0.582000 14 67 0 0 0.033300 0 0 OR8U1 219417 broad.mit.edu 37 11 56143746 56143746 + Missense_Mutation SNP T T A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr11:56143746T>A ENST00000302270.1 + 1 647 c.647T>A c.(646-648)gTc>gAc p.V216D NM_001005204.1 NP_001005204.1 olfactory receptor, family 8, subfamily U, member 1 NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1) 39 Esophageal squamous(21;0.00448) ATTGTCTTTGTCTCCTACATG 0.498000 21 87 0 0 0.055883 0 0 UNC80 285175 broad.mit.edu 37 2 210858055 210858055 + Missense_Mutation SNP T T G TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr2:210858055T>G ENST00000439458.1 + 62 9295 c.9215T>G c.(9214-9216)cTa>cGa p.L3072R UNC80_ENST00000272845.5_Missense_Mutation_p.L3048R NM_032504.1 NP_115893.1 Q8N2C7 UNC80_HUMAN unc-80 homolog (C. elegans) 3072 integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1) 20 CGTCCTCTACTATCACGTCAG 0.453000 3 10 0 0 0.115264 0 0 LRFN5 145581 broad.mit.edu 37 14 42360493 42360493 + Missense_Mutation SNP C C A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr14:42360493C>A ENST00000298119.4 + 4 2615 c.1426C>A c.(1426-1428)Ctg>Atg p.L476M LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron NM_152447.3 NP_689660.2 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III domain containing 5 476 Fibronectin type-III. integral to membrane p.L476V(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) GGTCAATAATCTGGCTGCTGG 0.403000 HNSCC(30;0.082) 13 75 5.26018e-13 7.24428e-13 0.062417 1 0 ACBD5 91452 broad.mit.edu 37 10 27508756 27508756 + Missense_Mutation SNP T T A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr10:27508756T>A ENST00000396271.3 - 6 647 c.521A>T c.(520-522)aAc>aTc p.N174I ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375897.3_Missense_Mutation_p.N65I|ACBD5_ENST00000375905.4_Missense_Mutation_p.N139I|ACBD5_ENST00000375888.1_Missense_Mutation_p.N183I|ACBD5_ENST00000375901.1_Missense_Mutation_p.N65I NM_145698.3 NP_663736.2 Q5T8D3 ACBD5_HUMAN acyl-CoA binding domain containing 5 183 transport integral to membrane|peroxisomal membrane fatty-acyl-CoA binding breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1) 13 GGTTTTGGCGTTTGGAGTAGA 0.388000 14 34 0 0 0.105934 0 0 NHLH2 4808 broad.mit.edu 37 1 116380682 116380682 + Silent SNP C C A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr1:116380682C>A ENST00000369506.1 - 1 5856 c.312G>T c.(310-312)ctG>ctT p.L104L NHLH2_ENST00000320238.3_Silent_p.L104L Q02577 HEN2_HUMAN nescient helix loop helix 2 104 Helix-loop-helix motif. cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding prostate(1) 1 Lung SC(450;0.184) all_cancers(81;1.75e-06)|all_epithelial(167;1.16e-06)|all_lung(203;9.55e-06)|Lung NSC(69;5.83e-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) GCAGCGTGGGCAGCAATTTGC 0.657000 6 17 0.0381472 0.040061 0.038147 1 0 FAM47A 158724 broad.mit.edu 37 X 34150181 34150181 + Missense_Mutation SNP C C A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chrX:34150181C>A ENST00000346193.3 - 1 266 c.215G>T c.(214-216)cGc>cTc p.R72L NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 72 p.R72H(1) NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 CTCGTCACGGCGACAAACGAG 0.537000 48 140 4.17328e-34 6.61824e-34 0.139131 1 0 FYB 2533 broad.mit.edu 37 5 39202804 39202804 + Nonsense_Mutation SNP C C A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr5:39202804C>A ENST00000351578.6 - 2 449 c.259G>T c.(259-261)Gga>Tga p.G87* FYB_ENST00000512982.1_Nonsense_Mutation_p.G87*|FYB_ENST00000540520.1_Nonsense_Mutation_p.G97*|FYB_ENST00000505428.1_Nonsense_Mutation_p.G87*|FYB_ENST00000515010.1_Nonsense_Mutation_p.G87* NM_199335.3 NP_955367.1 O15117 FYB_HUMAN FYN binding protein 87 cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1) 45 all_lung(31;0.000343) Epithelial(62;0.235) TGGCCTGCTCCAGTGGGCTTT 0.542000 15 87 1.15088e-07 1.42836e-07 0.146539 1 0 CLCN4 1183 broad.mit.edu 37 X 10188801 10188801 + Missense_Mutation SNP G G T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chrX:10188801G>T ENST00000380833.4 + 12 2467 c.2076G>T c.(2074-2076)aaG>aaT p.K692N CLCN4_ENST00000380829.1_Missense_Mutation_p.K661N|CLCN4_ENST00000421085.2_Missense_Mutation_p.K598N NM_001256944.1|NM_001830.3 NP_001243873.1|NP_001821.2 P51793 CLCN4_HUMAN chloride channel, voltage-sensitive 4 692 early endosome membrane|integral to membrane|late endosome membrane antiporter activity|ATP binding|voltage-gated chloride channel activity breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 ATCCCCTGAAGCTGCGGCGCA 0.592000 52 244 3.30712e-30 5.21827e-30 0.139131 1 0 ATP4A 495 broad.mit.edu 37 19 36050049 36050049 + Silent SNP G G A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr19:36050049G>A ENST00000262623.3 - 8 1129 c.1101C>T c.(1099-1101)tgC>tgT p.C367C NM_000704.2 NP_000695.2 P20648 ATP4A_HUMAN ATPase, H+/K+ exchanging, alpha polypeptide 367 ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding p.C367C(1) breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 53 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) TCTTGACCACGCAGTTCTTAC 0.617000 67 510 0 0 0.139131 0 0 EMC3 55831 broad.mit.edu 37 3 10049235 10049235 + RNA SNP G G T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr3:10049235G>T ENST00000383808.2 - 0 763 GAGGCCTGACGTAGGAGTGCT 0.587000 26 60 3.65163e-15 5.30839e-15 0.116897 1 0 DUSP27 92235 broad.mit.edu 37 1 167096156 167096156 + Missense_Mutation SNP C C A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr1:167096156C>A ENST00000361200.2 + 6 1954 c.1788C>A c.(1786-1788)caC>caA p.H596Q DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.H596Q|DUSP27_ENST00000271385.5_Missense_Mutation_p.H596Q Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 596 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 AGCTGAAACACCAGAAGAAGG 0.622000 11 37 0.00244969 0.00263426 0.119110 1 0 LPHN2 23266 broad.mit.edu 37 1 82436122 82436122 + Missense_Mutation SNP G G T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr1:82436122G>T ENST00000370728.1 + 18 3491 c.2846G>T c.(2845-2847)aGg>aTg p.R949M LPHN2_ENST00000370717.2_Missense_Mutation_p.R949M|LPHN2_ENST00000271029.4_Missense_Mutation_p.R949M|LPHN2_ENST00000370730.1_Missense_Mutation_p.R949M|LPHN2_ENST00000370713.1_Missense_Mutation_p.R936M|LPHN2_ENST00000394879.1_Missense_Mutation_p.R936M|LPHN2_ENST00000335786.5_Missense_Mutation_p.R949M|LPHN2_ENST00000370727.1_Missense_Mutation_p.R949M|LPHN2_ENST00000319517.6_Missense_Mutation_p.R936M|LPHN2_ENST00000370723.1_Missense_Mutation_p.R936M|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370715.1_Missense_Mutation_p.R936M|LPHN2_ENST00000359929.3_Missense_Mutation_p.R936M|LPHN2_ENST00000370725.1_Missense_Mutation_p.R949M|LPHN2_ENST00000370721.1_Missense_Mutation_p.R874M O95490 LPHN2_HUMAN latrophilin 2 949 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) GAATATTCAAGGAAAAAATAT 0.378000 8 27 0.00621372 0.00663642 0.058154 1 0 MAN1A2 10905 broad.mit.edu 37 1 118039517 118039517 + Missense_Mutation SNP G G A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr1:118039517G>A ENST00000356554.3 + 10 2152 c.1417G>A c.(1417-1419)Gat>Aat p.D473N NM_006699.3 NP_006690.1 O60476 MA1A2_HUMAN mannosidase, alpha, class 1A, member 2 473 N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1) 27 Lung SC(450;0.225) all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05) Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243) ACTAGGAGCAGATGGTTCCAG 0.433000 29 93 0 0 0.144211 0 0 MORC4 79710 broad.mit.edu 37 X 106219857 106219857 + Missense_Mutation SNP G G A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chrX:106219857G>A ENST00000355610.4 - 9 1388 c.1114C>T c.(1114-1116)Cct>Tct p.P372S MORC4_ENST00000255495.7_Missense_Mutation_p.P372S|MORC4_ENST00000535534.1_Missense_Mutation_p.P120S NM_001085354.2|NM_024657.4 NP_001078823.1|NP_078933.3 Q8TE76 MORC4_HUMAN MORC family CW-type zinc finger 4 372 ATP binding|zinc ion binding endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 28 TTGTAGGCAGGTTTTAGGAAA 0.408000 35 165 0 0 0.098360 0 0 TMEM131 23505 broad.mit.edu 37 2 98475769 98475769 + Missense_Mutation SNP T T C TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr2:98475769T>C ENST00000186436.5 - 5 709 c.481A>G c.(481-483)Agg>Ggg p.R161G TMEM131_ENST00000425805.2_Missense_Mutation_p.R112G NM_015348.1 NP_056163.1 Q92545 TM131_HUMAN transmembrane protein 131 161 integral to membrane NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1) 57 AAACTTACCCTATTTTGAAAA 0.303000 46 54 0 0 0.139131 0 0 SATL1 340562 broad.mit.edu 37 X 84363384 84363384 + Silent SNP G G A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chrX:84363384G>A ENST00000509231.1 - 1 670 c.591C>T c.(589-591)ggC>ggT p.G197G SATL1_ENST00000395409.3_Silent_p.G10G|SATL1_ENST00000332921.5_Silent_p.G10G Q86VE3 SATL1_HUMAN spermidine/spermine N1-acetyl transferase-like 1 10 Gln-rich. N-acetyltransferase activity NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1) 29 GTTGTTGCACGCCTGGTTGCC 0.572000 24 78 0 0 0.083992 0 0 MAGEA6 4105 broad.mit.edu 37 X 151869625 151869625 + Missense_Mutation SNP C C A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chrX:151869625C>A ENST00000329342.5 + 3 540 c.315C>A c.(313-315)ttC>ttA p.F105L NM_005363.2 NP_005354.1 P43360 MAGA6_HUMAN melanoma antigen family A, 6 105 protein binding breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) AGTCTGAGTTCCAAGCAGCAC 0.547000 22 114 1.10513e-12 1.50875e-12 0.069288 1 0 GTPBP2 54676 broad.mit.edu 37 6 43593175 43593175 + Silent SNP G G A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr6:43593175G>A ENST00000307126.5 - 5 629 c.630C>T c.(628-630)cgC>cgT p.R210R GTPBP2_ENST00000307114.7_Silent_p.R122R|GTPBP2_ENST00000476510.1_5'UTR NM_019096.3 NP_061969.3 Q9BX10 GTPB2_HUMAN GTP binding protein 2 210 GTP binding|GTPase activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004) all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167) CATGCAGGTGGCGGAAAAGGT 0.582000 85 86 0 0 0.139131 0 0 LILRA2 11027 broad.mit.edu 37 19 55085904 55085904 + Missense_Mutation SNP G G T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr19:55085904G>T ENST00000251377.3 + 4 340 c.207G>T c.(205-207)tgG>tgT p.W69C LILRA2_ENST00000251376.3_Missense_Mutation_p.W69C|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.W57C|LILRA2_ENST00000391738.3_Missense_Mutation_p.W69C|LILRA2_ENST00000495786.1_3'UTR|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 GBM - Glioblastoma multiforme(193;0.0963) CAGCATCCTGGGTTAGACGGA 0.537000 14 62 6.31663e-08 7.90207e-08 0.132662 1 0 PSMD3 5709 broad.mit.edu 37 17 38153787 38153787 + Missense_Mutation SNP G G A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr17:38153787G>A ENST00000264639.4 + 12 1732 c.1558G>A c.(1558-1560)Gag>Aag p.E520K PSMD3_ENST00000541736.1_3'UTR NM_002809.3 NP_002800.2 O43242 PSMD3_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 3 520 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome complex enzyme regulator activity|protein binding p.E520Q(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(19;0.000442) GCAGGACTTGGAGTTTGCCAA 0.607000 12 36 0 0 0.146539 0 0 PCDHGB3 56102 broad.mit.edu 37 5 140751832 140751832 + Missense_Mutation SNP G G C TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr5:140751832G>C ENST00000576222.1 + 1 2002 c.1871G>C c.(1870-1872)gGt>gCt p.G624A PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018924.2|NM_032097.1 NP_061747.1|NP_115268.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGCGCACGGGTGAGGTGCGC 0.687000 6 29 0 0 0.038147 0 0 OR5I1 10798 broad.mit.edu 37 11 55703852 55703852 + Missense_Mutation SNP T T A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr11:55703852T>A ENST00000301532.3 - 1 24 c.25A>T c.(25-27)Acg>Tcg p.T9S NM_006637.1 NP_006628.1 Q13606 OR5I1_HUMAN olfactory receptor, family 5, subfamily I, member 1 9 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 GTGACCAACGTGTAGTTTCTA 0.328000 11 55 0 0 0.069234 0 0 ADD3 120 broad.mit.edu 37 10 111890136 111890136 + Missense_Mutation SNP G G A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr10:111890136G>A ENST00000277900.8 + 13 1989 c.1624G>A c.(1624-1626)Gat>Aat p.D542N ADD3_ENST00000356080.4_Missense_Mutation_p.D542N|ADD3_ENST00000360162.3_Missense_Mutation_p.D542N NM_001121.2 NP_001112.2 Q9UEY8 ADDG_HUMAN adducin 3 (gamma) 542 cytoskeleton actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 29 Breast(234;0.052)|Lung NSC(174;0.223) Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742) GCAATTTGAAGATGATGATCA 0.348000 4 94 0 0 0.038395 0 0 TRAPPC5 126003 broad.mit.edu 37 19 7747434 7747434 + Missense_Mutation SNP G G T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr19:7747434G>T ENST00000317378.5 + 2 482 c.295G>T c.(295-297)Ggc>Tgc p.G99C TRAPPC5_ENST00000596148.1_Missense_Mutation_p.G99C|TRAPPC5_ENST00000595985.1_Missense_Mutation_p.G32C|CTD-3214H19.16_ENST00000597959.1_3'UTR|TRAPPC5_ENST00000426877.2_Missense_Mutation_p.G99C NM_174894.2 NP_777554.1 Q8IUR0 TPPC5_HUMAN trafficking protein particle complex 5 99 vesicle-mediated transport endoplasmic reticulum guanylate cyclase activity|heme binding NS(1)|lung(2) 3 GGCGCTCTTCGGCAAGGAGGC 0.642000 9 17 3.07112e-06 3.5716e-06 0.080935 1 0 PCDH11X 27328 broad.mit.edu 37 X 91133015 91133015 + Silent SNP C C A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chrX:91133015C>A ENST00000373094.1 + 2 2621 c.1776C>A c.(1774-1776)atC>atA p.I592I PCDH11X_ENST00000361655.2_Silent_p.I592I|PCDH11X_ENST00000298274.8_Silent_p.I592I|PCDH11X_ENST00000504220.1_Silent_p.I592I|PCDH11X_ENST00000361724.1_Silent_p.I592I|PCDH11X_ENST00000373088.1_Silent_p.I592I|PCDH11X_ENST00000395337.2_Silent_p.I592I|PCDH11X_ENST00000373097.1_Silent_p.I592I|PCDH11X_ENST00000406881.1_Silent_p.I592I NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 592 Cadherin 6. homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 TAGGACTAATCACTGTAACTG 0.398000 15 64 8.10497e-08 1.00991e-07 0.055883 1 0 NRXN3 9369 broad.mit.edu 37 14 79423671 79423671 + Missense_Mutation SNP C C T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr14:79423671C>T ENST00000554719.1 + 8 1734 c.1243C>T c.(1243-1245)Ctt>Ttt p.L415F NRXN3_ENST00000335750.5_Missense_Mutation_p.L415F NM_004796.4 NP_004787.2 Q9HDB5 NRX3B_HUMAN neurexin 3 185 angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) AGGAAAAAGCCTTAAGTTAAC 0.493000 20 58 0 0 0.062417 0 0 KDR 3791 broad.mit.edu 37 4 55963852 55963852 + Missense_Mutation SNP G G T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr4:55963852G>T ENST00000263923.4 - 18 2886 c.2591C>A c.(2590-2592)aCa>aAa p.T864K NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 864 Protein kinase. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) GACTGCTACTGTCCTGCAAGT 0.403000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 13 61 0.000308642 0.000338859 0.132662 1 0 HRG 3273 broad.mit.edu 37 3 186395280 186395280 + Missense_Mutation SNP C C A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr3:186395280C>A ENST00000232003.4 + 7 1266 c.1186C>A c.(1186-1188)Ccc>Acc p.P396T NM_000412.2 NP_000403.1 P04196 HRG_HUMAN histidine-rich glycoprotein 396 His/Pro-rich (HRR). fibrinolysis|platelet activation|platelet degranulation extracellular region|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0683) tggacaccacccccatggaca 0.552000 10 24 3.86212e-05 4.33109e-05 0.069234 1 0 PDZD7 79955 broad.mit.edu 37 10 102783311 102783311 + Nonsense_Mutation SNP C C A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr10:102783311C>A ENST00000370215.3 - 4 649 c.424G>T c.(424-426)Gag>Tag p.E142* PDZD7_ENST00000470414.1_Nonsense_Mutation_p.E142* NM_024895.4 NP_079171.1 Q9H5P4 PDZD7_HUMAN PDZ domain containing 7 142 PDZ 1. cilium|nucleus protein binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Epithelial(162;6.98e-09)|all cancers(201;3.55e-07) GTGGTGCTCTCCAGGCTCAGC 0.652000 8 30 0.0692343 0.0719853 0.069234 1 0 MAGI3 260425 broad.mit.edu 37 1 114226575 114226575 + Nonsense_Mutation SNP G G A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr1:114226575G>A ENST00000307546.9 + 21 4460 c.4385G>A c.(4384-4386)tGg>tAg p.W1462* MAGI3_ENST00000369615.1_3'UTR NM_001142782.1 NP_001136254.1 Q5TCQ9 MAGI3_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 3 1487 apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CCAGGGCCCTGGAAGGTTCCA 0.413000 7 36 0 0 0.047766 0 0 CSMD2 114784 broad.mit.edu 37 1 34383799 34383799 + Silent SNP G G T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr1:34383799G>T ENST00000373381.4 - 5 992 c.816C>A c.(814-816)atC>atA p.I272I NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 232 CUB 2. 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) GCTCAGCCAGGATGGTCCATG 0.587000 11 48 7.93312e-07 9.36466e-07 0.119110 1 0 AKAP6 9472 broad.mit.edu 37 14 33290934 33290934 + Silent SNP G G T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr14:33290934G>T ENST00000280979.4 + 13 4085 c.3915G>T c.(3913-3915)ctG>ctT p.L1305L AKAP6_ENST00000557272.1_Intron NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 1305 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) TGCCATTTCTGAAAAACAATC 0.413000 20 70 8.24728e-16 1.2158e-15 0.099896 1 0 AQR 9716 broad.mit.edu 37 15 35210473 35210473 + Missense_Mutation SNP T T A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr15:35210473T>A ENST00000156471.5 - 15 1553 c.1328A>T c.(1327-1329)tAc>tTc p.Y443F NM_014691.2 NP_055506.1 O60306 AQR_HUMAN aquarius intron-binding spliceosomal factor 443 catalytic step 2 spliceosome RNA binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 57 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) TCCAGAATAGTACTCAGTTGG 0.353000 6 15 0 0 0.021553 0 0 MROH2B 133558 broad.mit.edu 37 5 41018009 41018009 + Missense_Mutation SNP G G C TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr5:41018009G>C ENST00000399564.4 - 28 3277 c.2827C>G c.(2827-2829)Ctg>Gtg p.L943V MROH2B_ENST00000506092.2_Missense_Mutation_p.L498V NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B ATGGTGGGCAGGGTATCACAG 0.483000 8 29 0 0 0.058154 0 0 MAPKAPK2 9261 broad.mit.edu 37 1 206906050 206906050 + Missense_Mutation SNP C C T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr1:206906050C>T ENST00000367103.3 + 10 1383 c.1190C>T c.(1189-1191)gCt>gTt p.A397V MAPKAPK2_ENST00000294981.4_3'UTR NM_004759.4|NM_032960.3 NP_004750.1|NP_116584.2 P49137 MAPK2_HUMAN mitogen-activated protein kinase-activated protein kinase 2 397 activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|prostanoid metabolic process|Ras protein signal transduction|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 cytosol|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 19 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.211) GAGGCTGCGGCTCTGGCCCAC 0.527000 15 38 0 0 0.049695 0 0 UFSP2 55325 broad.mit.edu 37 4 186339797 186339797 + Silent SNP G G T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr4:186339797G>T ENST00000264689.6 - 3 326 c.210C>A c.(208-210)acC>acA p.T70T UFSP2_ENST00000502282.1_5'UTR NM_018359.3 NP_060829.2 Q9NUQ7 UFSP2_HUMAN UFM1-specific peptidase 2 70 endoplasmic reticulum|nucleus small conjugating protein-specific protease activity endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166) CTCCAGGAATGGTGTTTATGT 0.393000 24 80 7.92952e-12 1.07322e-11 0.091800 1 0 PSG6 5675 broad.mit.edu 37 19 43421938 43421938 + Missense_Mutation SNP G G T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr19:43421938G>T ENST00000187910.2 - 1 72 c.7C>A c.(7-9)Ccc>Acc p.P3T PSG6_ENST00000601833.1_Intron|PSG6_ENST00000292125.2_Missense_Mutation_p.P3T|PSG6_ENST00000402603.4_Missense_Mutation_p.P3T NM_001031850.3 NP_001027020.1 pregnancy specific beta-1-glycoprotein 6 central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 Prostate(69;0.00899) GCTGAGAGGGGTCCCATGGTC 0.602000 27 84 7.68411e-24 1.17698e-23 0.134883 1 0 IQGAP3 128239 broad.mit.edu 37 1 156503601 156503601 + Missense_Mutation SNP C C A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr1:156503601C>A ENST00000361170.2 - 31 3950 c.3940G>T c.(3940-3942)Gat>Tat p.D1314Y NM_178229.4 NP_839943.2 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 1314 small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3) 75 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TCCCCAAGATCCTCCAGGAGC 0.602000 6 42 0.0692343 0.0719853 0.069234 1 0 ATM 472 broad.mit.edu 37 11 108175416 108175416 + Missense_Mutation SNP T T G TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr11:108175416T>G ENST00000278616.4 + 37 5896 c.5511T>G c.(5509-5511)ttT>ttG p.F1837L ATM_ENST00000452508.2_Missense_Mutation_p.F1837L NM_000051.3 NP_000042.3 Q13315 ATM_HUMAN ataxia telangiectasia mutated 1837 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) AAACTGACTTTTGTCAGACTG 0.308000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 11 40 0 0 0.093190 0 0 COL9A1 1297 broad.mit.edu 37 6 71003934 71003934 + Missense_Mutation SNP G G T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr6:71003934G>T ENST00000357250.6 - 5 790 c.632C>A c.(631-633)cCa>cAa p.P211Q COL9A1_ENST00000370496.3_Missense_Mutation_p.P211Q NM_001851.4 NP_001842.3 P20849 CO9A1_HUMAN collagen, type IX, alpha 1 211 Nonhelical region (NC4).|TSP N-terminal. axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding p.P211Q(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 AATGTCAATTGGGCCTCTTGG 0.423000 58 74 1.16596e-39 1.86791e-39 0.139131 1 0 LIG3 3980 broad.mit.edu 37 17 33326409 33326409 + Missense_Mutation SNP C C T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr17:33326409C>T ENST00000378526.4 + 15 2330 c.2197C>T c.(2197-2199)Cat>Tat p.H733Y LIG3_ENST00000262327.5_Missense_Mutation_p.H733Y NM_013975.3 NP_039269.2 P49916 DNLI3_HUMAN ligase III, DNA, ATP-dependent 733 base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1) 31 Ovarian(249;0.17) Bleomycin(DB00290) TGCAGGAGGCCATGATGATGC 0.587000 Other BER factors 15 31 0 0 0.146539 0 0 WNK3 65267 broad.mit.edu 37 X 54334456 54334456 + Missense_Mutation SNP C C T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chrX:54334456C>T ENST00000354646.2 - 5 1426 c.988G>A c.(988-990)Gat>Aat p.D330N WNK3_ENST00000375159.2_Missense_Mutation_p.D330N|WNK3_ENST00000375169.3_Missense_Mutation_p.D330N NM_020922.4 NP_065973.2 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 330 Protein kinase. intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 GCATAAACATCTACGGATTCA 0.393000 19 83 0 0 0.049695 0 0 ADD3 120 broad.mit.edu 37 10 111890202 111890202 + Missense_Mutation SNP G G A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr10:111890202G>A ENST00000277900.8 + 13 2055 c.1690G>A c.(1690-1692)Gag>Aag p.E564K ADD3_ENST00000356080.4_Missense_Mutation_p.E564K|ADD3_ENST00000360162.3_Missense_Mutation_p.E564K NM_001121.2 NP_001112.2 Q9UEY8 ADDG_HUMAN adducin 3 (gamma) 564 cytoskeleton actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 29 Breast(234;0.052)|Lung NSC(174;0.223) Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742) AGAACTTGAAGAGTATAAGAG 0.378000 20 121 0 0 0.069288 0 0 PCDHB11 56125 broad.mit.edu 37 5 140579470 140579470 + Missense_Mutation SNP C C A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr5:140579470C>A ENST00000354757.3 + 1 123 c.123C>A c.(121-123)agC>agA p.S41R PCDHB11_ENST00000536699.1_Intron NM_018931.2 NP_061754.1 Q9Y5F2 PCDBB_HUMAN 41 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAATGCAGAGCGGGAGTTTTG 0.522000 12 36 2.62699e-14 3.76655e-14 0.132662 1 0 TECRL 253017 broad.mit.edu 37 4 65274942 65274942 + Missense_Mutation SNP G G T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr4:65274942G>T ENST00000381210.3 - 1 238 c.128C>A c.(127-129)gCg>gAg p.A43E TECRL_ENST00000507440.1_Missense_Mutation_p.A43E NM_001010874.4 NP_001010874.2 Q5HYJ1 TECRL_HUMAN trans-2,3-enoyl-CoA reductase-like 43 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1) 47 TAGAGGGCCCGCTGAGAGTAC 0.393000 17 48 1.00905e-13 1.41447e-13 0.049695 1 0 BPTF 2186 broad.mit.edu 37 17 65907022 65907022 + Missense_Mutation SNP G G A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr17:65907022G>A ENST00000321892.4 + 13 3461 c.3400G>A c.(3400-3402)Gat>Aat p.D1134N BPTF_ENST00000306378.6_Missense_Mutation_p.D1008N|BPTF_ENST00000335221.5_Missense_Mutation_p.D1134N|BPTF_ENST00000424123.3_Missense_Mutation_p.D995N Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 1134 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) TTCTGACAGTGATAAACCCTG 0.333000 7 35 0 0 0.029380 0 0 CYP4Z2P 163720 broad.mit.edu 37 1 47337315 47337316 + RNA INS - - T rs149213285 by1000genomes TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr1:47337315_47337316insT ENST00000505841.1 - 0 879 NR_002788.2 taatttttaaatttttgtagag 0.490 6 4 --- --- --- --- RP4-683M8.2 0 broad.mit.edu 37 1 48524241 48524242 + RNA INS - - G TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr1:48524241_48524242insG ENST00000439795.1 + 0 185 GGTTGTGGGGAGGGGGGAGACC 0.446 3 4 --- --- --- --- LOC101926964 101926964 broad.mit.edu 37 1 61202009 61202012 + RNA DEL TGTG TGTG - rs71756661 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr1:61202009_61202012delTGTG ENST00000423403.1 - 0 249 caaagatgcatgtgtgtgtgtgtg 0.382 3 2 --- --- --- --- RP4-771M4.3 0 broad.mit.edu 37 1 63362017 63362018 + RNA INS - - ACAC rs67161884 by1000genomes TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr1:63362017_63362018insACAC ENST00000450811.1 + 0 101 CATTTTCTGTTacacacacaca 0.351 5 2 --- --- --- --- GNG12-AS1 100289178 broad.mit.edu 37 1 68361515 68361516 + RNA INS - - A rs145881425 by1000genomes TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr1:68361515_68361516insA ENST00000420587.1 + 0 134 GNG12-AS1_ENST00000413628.1_RNA NR_040077.1 Q6ZVV5 Q6ZVV5_HUMAN agtgcccatttaaaAAAAAATG 0.307 4 2 --- --- --- --- RP11-424D14.1 0 broad.mit.edu 37 1 69573549 69573550 + RNA INS - - A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr1:69573549_69573550insA ENST00000425517.1 + 0 317 gactctgtctcaaaaaaaaaaa 0.455 2 4 --- --- --- --- RP11-424D14.1 0 broad.mit.edu 37 1 69589276 69589277 + RNA INS - - CT rs10634406 by1000genomes TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr1:69589276_69589277insCT ENST00000425517.1 + 0 317 tcttttttctcctctctctctc 0.431 3 4 --- --- --- --- LOC101927244 101927244 broad.mit.edu 37 1 71191618 71191619 + RNA INS - - T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr1:71191618_71191619insT ENST00000419450.1 + 0 637 gtgacccctgctttttttttcc 0.351 2 4 --- --- --- --- RP4-788P17.1 0 broad.mit.edu 37 1 74103049 74103049 + RNA DEL C C - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr1:74103049delC ENST00000424953.1 + 0 26 cattcaacaacccatgtaatc 0.368 2 4 --- --- --- --- LOC101927587 101927587 broad.mit.edu 37 1 84282869 84282870 + RNA DEL CA CA - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr1:84282869_84282870delCA ENST00000417975.1 - 0 178 cattcacacccacacacacaca 0.386 3 4 --- --- --- --- RP11-202K23.1 0 broad.mit.edu 37 1 102853536 102853536 + RNA DEL C C - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr1:102853536delC ENST00000447916.1 - 0 232 CTAAAATCTGCCTGGAGATGA 0.323 2 4 --- --- --- --- LOC101927209 101927209 broad.mit.edu 37 1 142631481 142631481 + RNA DEL C C - rs142199870 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr1:142631481delC ENST00000369381.2 - 0 5218 RP11-417J8.3_ENST00000426408.1_lincRNA accctttcttccagttgatcg 0.403 5 2 --- --- --- --- LOC101927209 101927209 broad.mit.edu 37 1 142647217 142647217 + RNA DEL A A - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr1:142647217delA ENST00000369381.2 - 0 2507 RP11-417J8.3_ENST00000426408.1_lincRNA actctgtctcaaaaaaaaaaa 0.443 2 4 --- --- --- --- RP11-423O2.5 0 broad.mit.edu 37 1 142804885 142804885 + RNA DEL A A - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr1:142804885delA ENST00000423385.1 - 0 356 TTTTTTTTTTAAATCAAGGAC 0.328 10 7 --- --- --- --- RP11-435B5.6 0 broad.mit.edu 37 1 143504722 143504722 + RNA DEL T T - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr1:143504722delT ENST00000429884.1 + 0 167 gtactcttaattttttattta 0.294 4 4 --- --- --- --- RP4-791M13.3 0 broad.mit.edu 37 1 144833624 144833624 + RNA DEL A A - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr1:144833624delA ENST00000466343.2 - 0 415 aggaaatcctaaaaggaataa 0.308 2 4 --- --- --- --- FLG-AS1 339400 broad.mit.edu 37 1 152170075 152170077 + RNA DEL TCC TCC - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr1:152170075_152170077delTCC ENST00000420707.1 + 0 158 FLG-AS1_ENST00000593011.1_RNA tttcttctcttcctcctcctcct 0.488 2 4 --- --- --- --- RP11-306I1.2 0 broad.mit.edu 37 1 165589648 165589649 + RNA INS - - C rs34110096 by1000genomes TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr1:165589648_165589649insC ENST00000452618.1 + 0 315 tatacactgggcccaaatattc 0.426 5 3 --- --- --- --- LOC102724661 102724661 broad.mit.edu 37 1 177332523 177332524 + RNA INS - - T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr1:177332523_177332524insT ENST00000451341.1 + 0 284 TTGTTTTTGTGTTTTTAAATAA 0.376 2 4 --- --- --- --- LINC01036 104169671 broad.mit.edu 37 1 187214190 187214191 + RNA INS - - T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr1:187214190_187214191insT ENST00000458683.1 + 0 105 TATTTTTCAAGTTTTTTTTTCC 0.347 2 4 --- --- --- --- LOC400800 400800 broad.mit.edu 37 1 199272207 199272208 + RNA DEL AT AT - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr1:199272207_199272208delAT ENST00000452199.1 + 0 309 atatatctccatatatatatat 0.366 2 4 --- --- --- --- RP11-554K11.2 0 broad.mit.edu 37 1 213702792 213702792 + RNA DEL T T - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr1:213702792delT ENST00000417161.1 + 0 275 AATATGTACATTTTTTTAACC 0.378 2 4 --- --- --- --- LOC101927787 101927787 broad.mit.edu 37 1 234785247 234785253 + RNA DEL GATAGAT GATAGAT - rs5781794 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr1:234785247_234785253delGATAGAT ENST00000417805.1 + 0 217 tagatagatagatagatgatagataga 0.386 3 5 --- --- --- --- AC079779.6 0 broad.mit.edu 37 2 319054 319067 + RNA DEL GGGCATGTGTGTGC GGGCATGTGTGTGC - rs115023434 by1000genomes TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr2:319054_319067delGGGCATGTGTGTGC ENST00000436808.2 + 0 11 acgtgagtgtgggcatgtgtgtgcgggcatgtga 0.645 2 4 --- --- --- --- LINC01115 339822 broad.mit.edu 37 2 849942 849943 + RNA INS - - CT TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr2:849942_849943insCT ENST00000414556.1 - 0 309 NR_033880.1 ctctctctcacctctctctctc 0.470 2 4 --- --- --- --- LINC01250 101927554 broad.mit.edu 37 2 3073844 3073845 + RNA INS - - A rs142249305 by1000genomes TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr2:3073844_3073845insA ENST00000457478.1 - 0 438 tgtctcaccacaaaaaatgagt 0.322 6 4 --- --- --- --- LOC100506457 100506457 broad.mit.edu 37 2 12302473 12302474 + RNA DEL AC AC - rs111715878 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr2:12302473_12302474delAC ENST00000412294.1 + 0 197 CTGCCCGATGacacacacacac 0.490 3 4 --- --- --- --- LINC00276 100499171 broad.mit.edu 37 2 13898228 13898229 + RNA INS - - G TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr2:13898228_13898229insG ENST00000420828.1 + 0 783_784 gtgtattctgtgggggggatgg 0.342 2 4 --- --- --- --- LINC00276 100499171 broad.mit.edu 37 2 14518029 14518031 + RNA DEL TCT TCT - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr2:14518029_14518031delTCT ENST00000418420.1 - 0 116 NR_103814.1 cctctctctctcttcttctttca 0.429 6 2 --- --- --- --- AC008069.1 0 broad.mit.edu 37 2 16922342 16922343 + RNA INS - - C TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr2:16922342_16922343insC ENST00000448650.1 + 0 56 cctcccaaaggccccccctgct 0.505 2 4 --- --- --- --- AC068490.2 0 broad.mit.edu 37 2 22244948 22244949 + RNA INS - - C TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr2:22244948_22244949insC ENST00000450551.1 - 0 200 CCACAACTCTTCCCCCTCCCTT 0.386 2 4 --- --- --- --- AC016768.1 0 broad.mit.edu 37 2 23303068 23303068 + RNA DEL A A - rs36041303 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr2:23303068delA ENST00000421581.1 - 0 91 attcttagataaaatcccatt 0.308 3 4 --- --- --- --- SLC8A1-AS1 100128590 broad.mit.edu 37 2 40245046 40245047 + RNA INS - - A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr2:40245046_40245047insA ENST00000418854.1 + 0 132 SLC8A1-AS1_ENST00000599740.1_RNA aggactcatgcaaaaaaaCcaa 0.342 2 4 --- --- --- --- SLC8A1-AS1 100128590 broad.mit.edu 37 2 40290991 40290992 + RNA DEL GA GA - rs34176075 by1000genomes TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr2:40290991_40290992delGA ENST00000439606.1 + 0 249 SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000418854.1_RNA gtgtgtgtgtgagatgcttgtg 0.426 4 7 --- --- --- --- AC079807.4 0 broad.mit.edu 37 2 48378837 48378837 + RNA DEL C C - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr2:48378837delC ENST00000447571.1 - 0 240 p.0?(2) tcttcttgtaccccacgcttg 0.318 2 4 --- --- --- --- LOC730100 730100 broad.mit.edu 37 2 52244356 52244356 + RNA DEL T T - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr2:52244356delT ENST00000440698.1 + 0 879 ccagagctggttttctggttc 0.398 2 4 --- --- --- --- LOC101927533 101927533 broad.mit.edu 37 2 65916892 65916893 + RNA INS - - C TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr2:65916892_65916893insC ENST00000377977.3 + 0 862 GGCAGAGGGGACCCCCCCAAGC 0.535 3 4 --- --- --- --- LINC00152 112597 broad.mit.edu 37 2 87834869 87834870 + RNA INS - - AC TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr2:87834869_87834870insAC ENST00000409054.1 + 0 278 NR_015395.1 TCTCTCCATGAacacacacaca 0.495 3 5 --- --- --- --- ANKRD36BP2 645784 broad.mit.edu 37 2 89073098 89073099 + RNA INS - - A rs145200928 by1000genomes TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr2:89073098_89073099insA ENST00000393525.3 + 0 401 CTTTGGTAGATACAGTGTTTTA 0.317 3 4 --- --- --- --- ANKRD36C 400986 broad.mit.edu 37 2 96525717 96525718 + Frame_Shift_Ins INS - - T rs77057279 by1000genomes TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr2:96525717_96525718insT ENST00000456556.1 - 61 3871_3872 c.3787_3788insA c.(3787-3789)gaafs p.E1263fs ANKRD36C_ENST00000419039.2_Frame_Shift_Ins_p.E290fs|ANKRD36C_ENST00000420871.2_Frame_Shift_Ins_p.E514fs ankyrin repeat domain 36C breast(1)|endometrium(8)|kidney(5)|lung(4) 18 CTTATTTTTCAGTTTTCGAATT 0.282 5 8 --- --- --- --- AC108051.1 0 broad.mit.edu 37 2 103593055 103593056 + RNA DEL AC AC - rs67141422 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr2:103593055_103593056delAC ENST00000431897.1 - 0 74 acacacacatacacacacacac 0.376 2 4 --- --- --- --- GACAT1 104326057 broad.mit.edu 37 2 108415369 108415370 + RNA INS - - T rs35174011 by1000genomes TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr2:108415369_108415370insT ENST00000419650.1 + 0 245 CAGTTTCAGTCTTTTTGAGTTA 0.535 5 2 --- --- --- --- TEX41 401014 broad.mit.edu 37 2 145608179 145608179 + RNA DEL T T - rs75787663 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr2:145608179delT ENST00000445791.1 + 0 307 NR_033870.2 ATTTAAAGTGTTTTTTTTTTT 0.303 3 3 --- --- --- --- AC092684.1 0 broad.mit.edu 37 2 165184050 165184051 + RNA DEL TT TT - rs59117666 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr2:165184050_165184051delTT ENST00000429636.1 - 0 104 TTGTTGTGTGtttttttttttt 0.366 2 4 --- --- --- --- AC074363.1 0 broad.mit.edu 37 2 168182791 168182794 + RNA DEL TTGT TTGT - rs148399278 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr2:168182791_168182794delTTGT ENST00000442316.1 + 0 164 cttaattggattgtttgttttttc 0.338 3 6 --- --- --- --- AC074363.1 0 broad.mit.edu 37 2 168264526 168264537 + RNA DEL ACACACACACAC ACACACACACAC - rs58271290 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr2:168264526_168264537delACACACACACAC ENST00000442316.1 + 0 164 gcaggcaaagacacacacacacacacacacac 0.406 2 4 --- --- --- --- AC007319.1 0 broad.mit.edu 37 2 187958554 187958555 + RNA INS - - G TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr2:187958554_187958555insG ENST00000412276.1 + 0 92 AC007319.1_ENST00000453517.1_RNA ttctctgtcctggggggagaca 0.356 2 4 --- --- --- --- AC007879.1 0 broad.mit.edu 37 2 208041686 208041687 + RNA DEL GT GT - rs112498669 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr2:208041686_208041687delGT ENST00000435643.1 + 0 181 TTGAGTGAGGgtgtgtgtgtgt 0.431 3 4 --- --- --- --- AC007879.5 0 broad.mit.edu 37 2 208329302 208329303 + RNA INS - - G TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr2:208329302_208329303insG ENST00000418850.1 - 0 256 AC007879.5_ENST00000412387.1_RNA ctcctgttgatgggggcaattc 0.505 2 4 --- --- --- --- AC007563.5 0 broad.mit.edu 37 2 217824611 217824612 + RNA INS - - G TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr2:217824611_217824612insG ENST00000447289.1 + 0 510 AC007563.5_ENST00000607591.1_RNA attattatTGAGGAATTTTTTT 0.441 2 4 --- --- --- --- AC067956.1 0 broad.mit.edu 37 2 221485284 221485284 + RNA DEL A A - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr2:221485284delA ENST00000414512.1 + 0 368 aaaaattgccaggcgtggtga 0.483 2 4 --- --- --- --- LINC01237 101927289 broad.mit.edu 37 2 242931922 242931923 + RNA INS - - ATGCATCT rs147538776 by1000genomes TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr2:242931922_242931923insATGCATCT ENST00000415434.1 + 0 310 attatccatccatccatccacc 0.500 2 4 --- --- --- --- ADAMTS9-AS2 100507098 broad.mit.edu 37 3 64786773 64786773 + RNA DEL C C - rs71102821 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr3:64786773delC ENST00000460833.1 + 0 2063 ADAMTS9-AS2_ENST00000474768.1_RNA|ADAMTS9-AS2_ENST00000481312.1_RNA aaaaaaaaaacaaaaaaaaaa 0.418 2 4 --- --- --- --- ADAMTS9-AS2 100507098 broad.mit.edu 37 3 64954945 64954946 + RNA INS - - C TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr3:64954945_64954946insC ENST00000474768.1 + 0 663 ADAMTS9-AS2_ENST00000481312.1_RNA TCGCTTTTTATCCCCCCCGCCG 0.475 2 4 --- --- --- --- RP11-85I21.1 0 broad.mit.edu 37 3 67348251 67348252 + RNA INS - - ACACACACAC rs60106362 by1000genomes TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr3:67348251_67348252insACACACACAC ENST00000484222.1 + 0 104 tatacatatgtacacacacaca 0.386 2 4 --- --- --- --- SUCLG2-AS1 101927111 broad.mit.edu 37 3 67976817 67976817 + RNA DEL G G - rs111682452 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr3:67976817delG ENST00000482677.1 + 0 1653 gattgcttgagcctaggagtt 0.443 4 2 --- --- --- --- RP11-260O18.1 0 broad.mit.edu 37 3 82092644 82092645 + RNA DEL AG AG - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr3:82092644_82092645delAG ENST00000470263.1 + 0 244 GAagagagatagagagagagag 0.426 3 4 --- --- --- --- RP11-572M11.4 0 broad.mit.edu 37 3 112805456 112805457 + RNA INS - - G TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr3:112805456_112805457insG ENST00000460707.1 + 0 390 RP11-572M11.4_ENST00000467342.1_RNA|RP11-572M11.4_ENST00000496389.1_RNA|RP11-572M11.4_ENST00000470313.1_RNA GGGAAAGTGAAGGGGGGGTCCT 0.564 2 4 --- --- --- --- RP11-384F7.1 0 broad.mit.edu 37 3 118173223 118173224 + RNA INS - - AA rs142935260 by1000genomes TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr3:118173223_118173224insAA ENST00000482142.1 - 0 232 cacatgcacctaaaggtggtgg 0.535 4 2 --- --- --- --- LOC101927123 101927123 broad.mit.edu 37 3 127081410 127081410 + RNA DEL A A - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr3:127081410delA ENST00000488425.1 - 0 225 GGGAGAGCCCATGTCCCATGA 0.597 2 4 --- --- --- --- RP11-649A16.1 0 broad.mit.edu 37 3 146817541 146817541 + RNA DEL G G - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr3:146817541delG ENST00000473299.1 - 0 229 attctcacaaggggggtacaa 0.483 5 6 --- --- --- --- LINC01324 104355289 broad.mit.edu 37 3 164501722 164501723 + RNA INS - - C TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr3:164501722_164501723insC ENST00000497379.2 - 0 67 ttccatggtctccccctctccc 0.614 2 4 --- --- --- --- STX18-AS1 100507266 broad.mit.edu 37 4 4557092 4557093 + RNA INS - - A rs11413961 by1000genomes TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr4:4557092_4557093insA ENST00000502693.1 + 0 357 STX18-AS1_ENST00000512438.1_RNA|STX18-AS1_ENST00000507244.1_RNA TAGTTAGTCATAAAAAAACCCA 0.446 5 1 --- --- --- --- RP11-472K22.1 0 broad.mit.edu 37 4 29183216 29183216 + RNA DEL T T - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr4:29183216delT ENST00000503299.1 + 0 468 tagaataatcttaaataatcg 0.388 2 4 --- --- --- --- LOC344967 344967 broad.mit.edu 37 4 40058324 40058325 + RNA INS - - G TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr4:40058324_40058325insG ENST00000381811.2 - 0 239 NR_027277.1 CCGGCGGGCTTGGGGGGGGGCG 0.797 2 4 --- --- --- --- RP11-463H12.2 0 broad.mit.edu 37 4 55813297 55813298 + RNA INS - - AC rs150613832 by1000genomes TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr4:55813297_55813298insAC ENST00000509711.1 + 0 58 ttagggtatgtacacacacaca 0.446 3 6 --- --- --- --- LINC00989 100506035 broad.mit.edu 37 4 80443977 80443978 + RNA INS - - T rs79586971 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr4:80443977_80443978insT ENST00000508174.1 + 0 760 TGATGATTATGTTTTTTTTTTT 0.381 2 4 --- --- --- --- LOC101929468 101929468 broad.mit.edu 37 4 105467479 105467479 + RNA DEL A A - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr4:105467479delA ENST00000500179.1 + 0 96 TTATGAGCCCAAAAGACAGAA 0.373 2 4 --- --- --- --- RP11-556I14.2 0 broad.mit.edu 37 4 105737873 105737874 + RNA DEL AC AC - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr4:105737873_105737874delAC ENST00000515127.1 - 0 366 ATACTTTGATacacacacacac 0.312 2 4 --- --- --- --- LOC100996694 100996694 broad.mit.edu 37 4 120869573 120869574 + RNA INS - - AA rs10718219 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr4:120869573_120869574insAA ENST00000505122.2 + 0 136 aactctgtctcaaaaaaaaaaa 0.376 2 4 --- --- --- --- RP11-679C8.2 0 broad.mit.edu 37 4 121199614 121199615 + RNA INS - - GA rs143322765 by1000genomes TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr4:121199614_121199615insGA ENST00000508362.1 + 0 138 RP11-679C8.2_ENST00000504106.1_RNA tgtgtgtgtgtgACTTTGAGTT 0.332 7 1 --- --- --- --- RP11-125O18.1 0 broad.mit.edu 37 4 128306195 128306195 + RNA DEL G G - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr4:128306195delG ENST00000504050.1 - 0 368 aaaccacaatgagatatggtc 0.323 2 4 --- --- --- --- RP11-775H9.2 0 broad.mit.edu 37 4 137122739 137122739 + RNA DEL C C - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr4:137122739delC ENST00000513332.1 - 0 279 tcttccatgacccacggcttc 0.527 2 4 --- --- --- --- SLC7A11-AS1 641364 broad.mit.edu 37 4 139079206 139079207 + RNA INS - - A rs33961527 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr4:139079206_139079207insA ENST00000510767.1 + 0 1725 SLC7A11-AS1_ENST00000512786.1_RNA NR_038380.1 gagtttggtggaaaaaaaaaca 0.361 3 5 --- --- --- --- RP11-98O2.1 0 broad.mit.edu 37 4 139718822 139718823 + RNA INS - - TGTG rs72516471 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr4:139718822_139718823insTGTG ENST00000502606.1 + 0 144 AAGAATAtgtatatgtgtgagt 0.416 3 4 --- --- --- --- RP11-526A4.1 0 broad.mit.edu 37 4 150396785 150396786 + RNA INS - - G TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr4:150396785_150396786insG ENST00000511993.1 - 0 1878 tgtagcactgaggggggaagaa 0.416 2 4 --- --- --- --- LOC101928877 101928877 broad.mit.edu 37 4 185978121 185978121 + RNA DEL T T - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr4:185978121delT ENST00000509017.1 + 0 404 tattgatgccttagaatattc 0.368 2 4 --- --- --- --- RP11-706F1.1 0 broad.mit.edu 37 4 190115586 190115586 + RNA DEL A A - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr4:190115586delA ENST00000514966.1 + 0 177 ATATCCTAGCAAATAGGAGCA 0.373 2 4 --- --- --- --- LINC01511 100506791 broad.mit.edu 37 5 1376960 1376961 + RNA DEL AC AC - rs10532046 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr5:1376960_1376961delAC ENST00000504989.1 - 0 506 ttaccaaaaaacaaaaacagtg 0.302 2 4 --- --- --- --- RP11-445O3.2 0 broad.mit.edu 37 5 4766779 4766784 + RNA DEL TGTGTG TGTGTG - rs71602183 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr5:4766779_4766784delTGTGTG ENST00000507435.1 - 0 429 atcgccattctgtgtgtgtgtgtgtg 0.510 2 4 --- --- --- --- LINC01020 340094 broad.mit.edu 37 5 5043429 5043432 + RNA DEL AAAG AAAG - rs66711034 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr5:5043429_5043432delAAAG ENST00000508201.1 + 0 308 cttaccacaaaaagaaagaaagaa 0.373 5 7 --- --- --- --- LOC285692 285692 broad.mit.edu 37 5 9775742 9775743 + RNA DEL CT CT - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr5:9775742_9775743delCT ENST00000511616.1 - 0 521 NR_027112.2 ggctcaagggctctctctctct 0.525 2 4 --- --- --- --- LOC285692 285692 broad.mit.edu 37 5 9834865 9834866 + RNA INS - - A rs144394874 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr5:9834865_9834866insA ENST00000511616.1 - 0 521 NR_027112.2 ATTACTGCATTAAAAAAAAAAA 0.411 3 5 --- --- --- --- CTD-2023M8.1 0 broad.mit.edu 37 5 18737199 18737200 + RNA DEL CA CA - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr5:18737199_18737200delCA ENST00000512978.1 - 0 176 CTCTCCCTCTCACACACACACA 0.391 2 4 --- --- --- --- RP11-124N3.3 0 broad.mit.edu 37 5 18999971 18999972 + RNA DEL TG TG - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr5:18999971_18999972delTG ENST00000504827.1 - 0 289 GTTAACAAACTGTGCAAAATCA 0.351 4 3 --- --- --- --- RP11-774D14.1 0 broad.mit.edu 37 5 20923264 20923265 + RNA INS - - A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr5:20923264_20923265insA ENST00000502427.1 + 0 541 cactccactagaaaaaaaaaat 0.416 3 4 --- --- --- --- GUSBP1 728411 broad.mit.edu 37 5 21536533 21536538 + RNA DEL ATAAGC ATAAGC - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr5:21536533_21536538delATAAGC ENST00000607545.1 + 0 314 NR_027026.1 gtttataacaataagctggctgcagt 0.422 3 5 --- --- --- --- GUSBP1 728411 broad.mit.edu 37 5 21539615 21539616 + RNA INS - - TA rs71310756 by1000genomes TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr5:21539615_21539616insTA ENST00000607545.1 + 0 314 NR_027026.1 aacagaaagacatactgcctga 0.376 7 3 --- --- --- --- GUSBP1 728411 broad.mit.edu 37 5 21569539 21569539 + RNA DEL T T - rs35875149 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr5:21569539delT ENST00000607545.1 + 0 314 NR_027026.1 ttgggtctcatttttttttcc 0.244 4 3 --- --- --- --- RP11-152K4.2 0 broad.mit.edu 37 5 31176545 31176546 + RNA INS - - T rs149830888 by1000genomes TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr5:31176545_31176546insT ENST00000523584.1 - 0 125 GGGAGACACTGTTTTTGGTTTT 0.386 4 3 --- --- --- --- LOC101928539 101928539 broad.mit.edu 37 5 57192199 57192200 + RNA INS - - ATA rs147011943 by1000genomes TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr5:57192199_57192200insATA ENST00000510444.1 - 0 2789_2790 AAATGCTTGTGATAAATTAAAG 0.351 4 2 --- --- --- --- MSH3 4437 broad.mit.edu 37 5 79950724 79950725 + In_Frame_Ins INS - - CCGCAGCGC rs70991168 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr5:79950724_79950725insCCGCAGCGC ENST00000265081.6 + 1 258_259 c.178_179insCCGCAGCGC c.(178-180)cgc>CCGCAGCGCcgc p.59_60insPQR DHFR_ENST00000439211.2_5'UTR NM_002439.4 NP_002430.3 P20585 MSH3_HUMAN mutS homolog 3 59 Poly-Ala. Missing. maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) ggccgcagcggccgcagcgCCC 0.708 Mismatch excision repair (MMR) 4 2 --- --- --- --- AC008834.1 0 broad.mit.edu 37 5 97466700 97466701 + RNA INS - - T rs77191694 by1000genomes TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr5:97466700_97466701insT ENST00000505908.1 - 0 454 AGTGGTGCCACTTTCCAGGATG 0.431 7 2 --- --- --- --- LOC285638 285638 broad.mit.edu 37 5 108574815 108574816 + RNA INS - - G TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr5:108574815_108574816insG ENST00000512693.1 - 0 4472 ATTGTTTATAAGGGGGGGTCCC 0.441 3 4 --- --- --- --- LOC101927379 101927379 broad.mit.edu 37 5 121989261 121989270 + RNA DEL ATTACATTAC ATTACATTAC - rs6875718 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr5:121989261_121989270delATTACATTAC ENST00000511194.1 - 0 921 TATATCATCTattacattacattacattac 0.324 2 4 --- --- --- --- CTB-57H20.1 0 broad.mit.edu 37 5 143161544 143161545 + RNA INS - - GT rs141034350 by1000genomes TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr5:143161544_143161545insGT ENST00000503323.1 + 0 379 gtgtgtttaaggtgtgtgtgtg 0.460 3 3 --- --- --- --- LOC101927115 101927115 broad.mit.edu 37 5 151501916 151501917 + RNA INS - - C rs11446591 by1000genomes TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr5:151501916_151501917insC ENST00000524295.1 + 0 199 TTAGTAATAATCCCTACCTGTT 0.347 3 3 --- --- --- --- LOC101927740 101927740 broad.mit.edu 37 5 158539317 158539317 + RNA DEL T T - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr5:158539317delT ENST00000499583.1 + 0 297 ATTAACCACCTTTTTTTTTCT 0.388 3 4 --- --- --- --- LOC102546299 102546299 broad.mit.edu 37 5 164497373 164497374 + RNA INS - - G rs149771468 by1000genomes TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr5:164497373_164497374insG ENST00000519570.1 + 0 451 CTC-340A15.2_ENST00000522646.1_RNA|CTC-340A15.2_ENST00000522303.1_RNA|CTC-340A15.2_ENST00000519267.1_RNA tatgttgaataggagtggtaag 0.386 4 3 --- --- --- --- LINC01411 101928176 broad.mit.edu 37 5 173933999 173934000 + RNA INS - - A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr5:173933999_173934000insA ENST00000510234.1 + 0 194 acaaacaaaccaaaaaaaacaa 0.475 2 4 --- --- --- --- CTD-2532K18.1 0 broad.mit.edu 37 5 174234837 174234840 + RNA DEL TTTG TTTG - rs144910617 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr5:174234837_174234840delTTTG ENST00000502684.1 + 0 50 GCCAGGCCACTTTGTTTGATGTGT 0.397 5 3 --- --- --- --- RP1-223B1.1 0 broad.mit.edu 37 6 3608527 3608527 + RNA DEL C C - rs56188206 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr6:3608527delC ENST00000443445.1 - 0 500 CCCAGCGTGGCTTCGGCAACT 0.552 7 3 --- --- --- --- RP1-290I10.7 0 broad.mit.edu 37 6 10453180 10453181 + RNA DEL TG TG - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr6:10453180_10453181delTG ENST00000366312.2 + 0 310 tgcgcgcacctgtgtgtgtgtg 0.559 2 4 --- --- --- --- LOC101927189 101927189 broad.mit.edu 37 6 53799546 53799546 + RNA DEL G G - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr6:53799546delG ENST00000431554.2 + 0 232 ttgagtccctgggaaatagac 0.403 2 4 --- --- --- --- RP3-399L15.2 0 broad.mit.edu 37 6 114856187 114856188 + RNA INS - - C TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr6:114856187_114856188insC ENST00000435802.1 - 0 160 gtgtggttttaccccctgcttc 0.525 3 6 --- --- --- --- RP11-351A11.1 0 broad.mit.edu 37 6 119266655 119266657 + RNA DEL AAA AAA - rs67515130 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr6:119266655_119266657delAAA ENST00000518570.1 + 0 206 aagacaaaggaaaaaaatgaatc 0.335 2 4 --- --- --- --- RNF217-AS1 7955 broad.mit.edu 37 6 125265140 125265140 + RNA DEL A A - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr6:125265140delA ENST00000439075.1 - 0 526 NR_026876.1 attttttaccaaaaaaaaggt 0.303 2 4 --- --- --- --- RP11-69I8.3 0 broad.mit.edu 37 6 132395574 132395575 + RNA INS - - T rs35129618 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr6:132395574_132395575insT ENST00000435287.1 + 0 309 gtccccaTGCAttttttttttt 0.426 2 4 --- --- --- --- RP11-307P5.1 0 broad.mit.edu 37 6 148261338 148261339 + RNA INS - - T rs71748775 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr6:148261338_148261339insT ENST00000427015.1 + 0 117 GGCAGAATTCATTTTTTTTTTT 0.411 2 4 --- --- --- --- RP3-495K2.3 0 broad.mit.edu 37 6 169362942 169362964 + RNA DEL GGTCCTCGGGCAGGGAGGAGGCA GGTCCTCGGGCAGGGAGGAGGCA - rs149014272 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr6:169362942_169362964delGGTCCTCGGGCAGGGAGGAGGCA ENST00000444586.1 - 0 654_676 TCTGAAGCTTGGTCCTCGGGCAGGGAGGAGGCAGGTCCTCGGG 0.570 2 4 --- --- --- --- RP1-137D17.1 0 broad.mit.edu 37 6 169775969 169775970 + RNA INS - - T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr6:169775969_169775970insT ENST00000440168.1 - 0 185 AAGGGATTGTCTTTTTTGTAAA 0.347 2 4 --- --- --- --- AC004538.3 0 broad.mit.edu 37 7 11324422 11324423 + RNA INS - - T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr7:11324422_11324423insT ENST00000421121.1 + 0 113 AC004538.3_ENST00000428967.1_RNA|AC004538.3_ENST00000441110.1_RNA|AC004538.3_ENST00000445839.1_RNA|AC004538.3_ENST00000599875.1_RNA gatgtgtagtgttttttctgag 0.386 3 5 --- --- --- --- AC004538.3 0 broad.mit.edu 37 7 11330761 11330762 + RNA INS - - C TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr7:11330761_11330762insC ENST00000421121.1 + 0 113 AC004538.3_ENST00000428967.1_RNA|AC004538.3_ENST00000441110.1_RNA|AC004538.3_ENST00000445839.1_RNA|AC004538.3_ENST00000599875.1_RNA TTATTTCCCTGCCCCCAGCCTG 0.401 2 4 --- --- --- --- AC006000.5 0 broad.mit.edu 37 7 13383520 13383520 + RNA DEL C C - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr7:13383520delC ENST00000456809.1 - 0 365 tttgctttatcccaaaggtgt 0.294 2 4 --- --- --- --- LOC101927668 101927668 broad.mit.edu 37 7 20006826 20006827 + RNA INS - - A rs138379463 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr7:20006826_20006827insA ENST00000449573.1 - 0 462 agaacaacaacaacagaaataa 0.351 3 5 --- --- --- --- NPSR1-AS1 404744 broad.mit.edu 37 7 34493882 34493882 + RNA DEL T T - rs67530038 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr7:34493882delT ENST00000419766.1 - 0 310 NR_033664.1|NR_033665.1 CAATATGTAATTTTTTTATAT 0.249 6 3 --- --- --- --- AC092657.2 0 broad.mit.edu 37 7 46363395 46363395 + RNA DEL G G - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr7:46363395delG ENST00000436266.1 + 0 49 tcctacatgtggaagccacag 0.532 2 4 --- --- --- --- AC004901.1 0 broad.mit.edu 37 7 46990103 46990104 + RNA INS - - TG TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr7:46990103_46990104insTG ENST00000433337.1 - 0 237 GTCTAGGTGCATGTGTGTGTGC 0.426 2 4 --- --- --- --- RP4-724E13.2 0 broad.mit.edu 37 7 50942268 50942269 + RNA INS - - TGGA rs71265024 by1000genomes TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr7:50942268_50942269insTGGA ENST00000420449.1 + 0 24 gaattgcaagctgaagaactaa 0.366 2 4 --- --- --- --- RP5-945F2.3 0 broad.mit.edu 37 7 67734738 67734739 + RNA DEL GT GT - rs72303609 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr7:67734738_67734739delGT ENST00000446187.1 - 0 179 tgtgtgtgtggtgtgtgtgtgt 0.436 3 4 --- --- --- --- AC003988.1 0 broad.mit.edu 37 7 79893792 79893792 + RNA DEL A A - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr7:79893792delA ENST00000447198.2 - 0 202 catgcccgtgaatgacagcaa 0.368 3 3 --- --- --- --- LOC100128317 100128317 broad.mit.edu 37 7 81235540 81235540 + RNA DEL A A - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr7:81235540delA ENST00000413944.2 - 0 314 CTAGGTCAGGAAATTGAAATT 0.289 2 4 --- --- --- --- STEAP2-AS1 100874100 broad.mit.edu 37 7 89733941 89733950 + RNA DEL CACACACCCC CACACACCCC - rs112608068 by1000genomes TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr7:89733941_89733950delCACACACCCC ENST00000478318.2 - 0 424 cacacacacacacacacccccacacacaca 0.333 5 4 --- --- --- --- POT1-AS1 401398 broad.mit.edu 37 7 124602446 124602447 + RNA INS - - T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr7:124602446_124602447insT ENST00000453342.1 + 0 202 gaaagtatatgtgtcaggtgtg 0.426 3 4 --- --- --- --- AC024084.1 0 broad.mit.edu 37 7 135730917 135730920 + RNA DEL TGTG TGTG - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr7:135730917_135730920delTGTG ENST00000440744.2 + 0 134 AGGGAGAAACTGTGTGTGAGTTCC 0.466 6 1 --- --- --- --- EPHA1-AS1 285965 broad.mit.edu 37 7 143205895 143205896 + RNA INS - - G TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr7:143205895_143205896insG ENST00000429289.1 + 0 263 NR_033897.1 ataatgtgagagggggtggaga 0.406 2 4 --- --- --- --- C7orf13 129790 broad.mit.edu 37 7 156321160 156321161 + RNA INS - - T rs34848584 by1000genomes TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr7:156321160_156321161insT ENST00000447933.1 - 0 300 TGAAGCTGTGGTTTTTTTCCTT 0.505 5 2 --- --- --- --- LOC101927914 101927914 broad.mit.edu 37 7 157280615 157280615 + RNA DEL A A - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr7:157280615delA ENST00000444158.1 + 0 2547 ggcacacgggagagccgggga 0.761 5 6 --- --- --- --- ERICH1-AS1 619343 broad.mit.edu 37 8 1071685 1071746 + RNA DEL TCATCTTTCCTGAACCCATGACCACCCATCCTTGTCCCTTTAGAACCCACAACCACCCGTCT TCATCTTTCCTGAACCCATGACCACCCATCCTTGTCCCTTTAGAACCCACAACCACCCGTCT - rs138695363 by1000genomes TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr8:1071685_1071746delTCATCTTTCCTGAACCCATGACCACCCATCCTTGTCCCTTTAGAACCCACAACCACCCGTCT ENST00000522092.1 + 0 332 NR_073397.1|NR_073466.1 CCACCCAACCTCATCTTTCCTGAACCCATGACCACCCATCCTTGTCCCTTTAGAACCCACAACCACCCGTCTTCATCTTTCC 0.504 3 3 --- --- --- --- AC100802.3 0 broad.mit.edu 37 8 19945773 19945774 + RNA INS - - A rs139430114 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr8:19945773_19945774insA ENST00000519197.1 + 0 218 gcctccatctcaaaaaaaaaaa 0.436 6 5 --- --- --- --- RP11-563N12.2 0 broad.mit.edu 37 8 20227227 20227227 + RNA DEL A A - rs76553491 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr8:20227227delA ENST00000521139.1 + 0 422 actccatctgaaaaaaaaaaa 0.373 3 5 --- --- --- --- RP11-213G6.2 0 broad.mit.edu 37 8 23586376 23586377 + RNA INS - - A rs35466576 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr8:23586376_23586377insA ENST00000520375.1 - 0 162 RP11-175E9.1_ENST00000523874.1_RNA gagacaaggtcaaaaaaaaaaa 0.450 3 3 --- --- --- --- RP11-624C23.1 0 broad.mit.edu 37 8 24410354 24410354 + RNA DEL A A - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr8:24410354delA ENST00000519689.1 - 0 184 catattgttgaaatcacaaat 0.403 2 4 --- --- --- --- LOC101929470 101929470 broad.mit.edu 37 8 29677949 29677950 + RNA INS - - AC TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr8:29677949_29677950insAC ENST00000507496.1 - 0 578 caccacacacaacacacacacc 0.465 4 9 --- --- --- --- LOC101929470 101929470 broad.mit.edu 37 8 29681140 29681141 + RNA INS - - TT rs67766739 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr8:29681140_29681141insTT ENST00000507496.1 - 0 93 AAACCCTTGTGTTTTTTTTTTT 0.411 2 4 --- --- --- --- RP11-350F16.1 0 broad.mit.edu 37 8 47836182 47836183 + RNA INS - - G TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr8:47836182_47836183insG ENST00000524012.1 + 0 408 CAGGCCAGGCTGGGGGGCCATG 0.554 2 4 --- --- --- --- RP11-162D9.3 0 broad.mit.edu 37 8 54135667 54135667 + RNA DEL C C - rs11300011 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr8:54135667delC ENST00000524425.1 + 0 670 atggtctcttcccctaaataa 0.393 3 3 --- --- --- --- CTD-3046C4.1 0 broad.mit.edu 37 8 64315439 64315439 + RNA DEL A A - rs148500473 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr8:64315439delA ENST00000521221.1 - 0 694 ggagaaacttaaaaaaaaatg 0.398 3 6 --- --- --- --- LOC101927040 101927040 broad.mit.edu 37 8 80758445 80758450 + RNA DEL ACACAC ACACAC - rs144940558 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr8:80758445_80758450delACACAC ENST00000502766.2 - 0 302 acacacataaacacacacacacacac 0.345 3 6 --- --- --- --- CNBD1 168975 broad.mit.edu 37 8 88601749 88601749 + RNA DEL A A - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr8:88601749delA ENST00000517711.1 - 0 232 AF121898.3_ENST00000518494.1_RNA|AF121898.3_ENST00000440763.2_RNA TTTGAAATATAAGCCTACCCA 0.363 2 4 --- --- --- --- C8orf37-AS1 100616530 broad.mit.edu 37 8 96482747 96482748 + RNA INS - - TT rs77776040 by1000genomes TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr8:96482747_96482748insTT ENST00000521905.1 + 0 281 CTGCCTGACTCGTCTTAACCAT 0.386 4 1 --- --- --- --- LINC00536 100859921 broad.mit.edu 37 8 117032092 117032093 + RNA INS - - A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr8:117032092_117032093insA ENST00000505156.2 - 0 1558 NR_046215.1 cactgaagcccaaaaaagggaa 0.366 2 4 --- --- --- --- LINC00536 100859921 broad.mit.edu 37 8 117049282 117049283 + RNA INS - - T rs139212337 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr8:117049282_117049283insT ENST00000505156.2 - 0 1558 NR_046215.1 CTCTCTCTCTCTTTTTTTTTTT 0.361 4 2 --- --- --- --- RP11-369K17.1 0 broad.mit.edu 37 8 121976889 121976890 + RNA INS - - ATTT rs59567579 by1000genomes TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr8:121976889_121976890insATTT ENST00000517739.1 + 0 95 taaatgagaggattaggggaat 0.446 5 3 --- --- --- --- RP11-3G20.2 0 broad.mit.edu 37 8 122708871 122708872 + RNA INS - - G rs148519158 by1000genomes TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr8:122708871_122708872insG ENST00000458107.3 + 0 251 CCTAAGCATCTGATGGATAAAG 0.381 8 1 --- --- --- --- LINC01151 104266958 broad.mit.edu 37 8 123699404 123699404 + RNA DEL T T - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr8:123699404delT ENST00000521608.1 - 0 335 taaacgctcctcccccagggg 0.517 2 4 --- --- --- --- RP11-89K10.1 0 broad.mit.edu 37 8 127608581 127608582 + RNA INS - - AGAG rs10657537 by1000genomes TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr8:127608581_127608582insAGAG ENST00000519880.1 + 0 156 RP11-89K10.1_ENST00000517915.1_RNA|RP11-89K10.1_ENST00000520512.1_RNA|RP11-89K10.1_ENST00000517773.1_RNA agagcaatgatagagagagaga 0.540 2 4 --- --- --- --- RP11-89K10.1 0 broad.mit.edu 37 8 127720444 127720444 + RNA DEL A A - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr8:127720444delA ENST00000519880.1 + 0 214 agaaggaatcaaagagtctat 0.274 2 4 --- --- --- --- CCDC26 137196 broad.mit.edu 37 8 130403730 130403731 + RNA INS - - G TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr8:130403730_130403731insG ENST00000446592.3 - 0 360 cccaactacttggggggctgag 0.515 2 4 --- --- --- --- CCDC26 137196 broad.mit.edu 37 8 130656997 130656997 + RNA DEL G G - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr8:130656997delG ENST00000446592.3 - 0 312 GGCCAAACCAGGAGACAGCAT 0.398 5 6 --- --- --- --- CCDC26 137196 broad.mit.edu 37 8 130681684 130681687 + RNA DEL GCCT GCCT - rs139967049 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr8:130681684_130681687delGCCT ENST00000446592.3 - 0 312 agggctggaggcctaggaggaaaa 0.525 4 5 --- --- --- --- VLDLR-AS1 401491 broad.mit.edu 37 9 2586373 2586376 + RNA DEL AAAC AAAC - rs142174778 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr9:2586373_2586376delAAAC ENST00000416826.2 - 0 185 RP11-125B21.2_ENST00000453601.1_RNA aatgaaattgaaacaaacaaacaa 0.294 4 3 --- --- --- --- MIR31HG 554202 broad.mit.edu 37 9 21506652 21506653 + RNA INS - - T rs11389375 by1000genomes TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr9:21506652_21506653insT ENST00000304425.3 - 0 181 NR_027054.1 TGCTTCCTTTGTTTTTTTTACC 0.342 5 6 --- --- --- --- TMEM2 23670 broad.mit.edu 37 9 74312964 74312964 + Frame_Shift_Del DEL C C - rs142314012 by1000genomes TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr9:74312964delC ENST00000377044.4 - 20 4073 c.3534delG c.(3532-3534)ccfs p.P1178fs TMEM2_ENST00000377066.5_Frame_Shift_Del_p.P1115fs|TMEM2_ENST00000396272.3_Frame_Shift_Del_p.P171fs NM_001135820.1|NM_013390.2 NP_001129292.1|NP_037522.1 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 1178 integral to membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2) 56 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) TGACCACTGACGGCTTTCTGT 0.522 25 70 --- --- --- --- LINC00701 399708 broad.mit.edu 37 10 2352886 2352886 + RNA DEL A A - rs142427123 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr10:2352886delA ENST00000418295.1 - 0 46 NR_038884.1 attttagacgaaaaaaaaaaa 0.368 2 4 --- --- --- --- RP11-543F8.2 0 broad.mit.edu 37 10 8467401 8467401 + RNA DEL T T - rs10716344 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr10:8467401delT ENST00000413286.1 + 0 141 GGGTTTAAGATTTTTTTTTTT 0.323 2 4 --- --- --- --- SYNPO2L 79933 broad.mit.edu 37 10 75417281 75417282 + RNA INS - - A rs112597540 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr10:75417281_75417282insA ENST00000606726.1 + 0 268 RP11-464F9.21_ENST00000607450.1_RNA accctgtctccaaaaaaaaaaa 0.485 2 4 --- --- --- --- LINC01520 101929684 broad.mit.edu 37 10 87216557 87216558 + RNA DEL TG TG - rs141769034 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr10:87216557_87216558delTG ENST00000441457.1 + 0 1106 acatatataatgtgtgtgtgtg 0.386 3 4 --- --- --- --- RP11-236B18.2 0 broad.mit.edu 37 10 92761561 92761564 + RNA DEL ACAC ACAC - rs3061206 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr10:92761561_92761564delACAC ENST00000412362.1 + 0 134 GTAAATATGTacacacacacacac 0.373 2 4 --- --- --- --- RP11-298J20.4 0 broad.mit.edu 37 10 126625753 126625755 + RNA DEL TTT TTT - rs149591784 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr10:126625753_126625755delTTT ENST00000508096.1 + 0 130 TTTGTGTGTAttttttttttttt 0.414 2 4 --- --- --- --- BDNF-AS 497258 broad.mit.edu 37 11 27538255 27538255 + RNA DEL T T - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr11:27538255delT ENST00000499008.3 + 0 47 BDNF-AS_ENST00000502161.2_RNA|BDNF-AS_ENST00000500662.2_RNA|BDNF-AS_ENST00000532965.1_RNA|BDNF-AS_ENST00000499568.2_RNA|BDNF-AS_ENST00000530686.1_RNA|BDNF-AS_ENST00000501176.2_RNA NR_002832.2 ggatcccagcttttttcattt 0.398 2 4 --- --- --- --- RP4-594L9.2 0 broad.mit.edu 37 11 34558108 34558108 + RNA DEL T T - rs148266584 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr11:34558108delT ENST00000527984.1 - 0 236 tttctttttcttttttttttt 0.443 2 4 --- --- --- --- RP11-613D13.4 0 broad.mit.edu 37 11 43979388 43979389 + RNA INS - - C rs71449865 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr11:43979388_43979389insC ENST00000526408.1 + 0 153 atgtgtgaccgcccccccaaca 0.495 3 3 --- --- --- --- OR4S1 256148 broad.mit.edu 37 11 48328524 48328525 + Frame_Shift_Ins INS - - C TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr11:48328524_48328525insC ENST00000319988.1 + 1 750_751 c.750_751insC c.(748-753)atccccfs p.IP250fs NM_001004725.1 NP_001004725.1 Q8NGB4 OR4S1_HUMAN olfactory receptor, family 4, subfamily S, member 1 250 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3) 21 TGGTTCTCATGCCCCCCATGTT 0.480 8 240 --- --- --- --- RP11-360K13.1 0 broad.mit.edu 37 11 96525379 96525379 + RNA DEL T T - rs33959701 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr11:96525379delT ENST00000527528.1 + 0 158 TTCTTCTGAGTTTTTTTTTTT 0.303 3 3 --- --- --- --- LOC102723895 102723895 broad.mit.edu 37 11 104384055 104384055 + RNA DEL T T - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr11:104384055delT ENST00000536529.1 - 0 422 tttaccgatgtaacaaacctg 0.368 2 4 --- --- --- --- RP11-820L6.1 0 broad.mit.edu 37 11 122116627 122116628 + RNA INS - - G TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr11:122116627_122116628insG ENST00000527474.1 - 0 898 acaagtcctaaggggggaatga 0.500 2 4 --- --- --- --- RP11-1038A11.3 0 broad.mit.edu 37 12 5477364 5477364 + RNA DEL A A - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr12:5477364delA ENST00000537192.1 + 0 351 ATTTGAGAAGAAAAAAAAAAT 0.418 4 7 --- --- --- --- C1S 716 broad.mit.edu 37 12 7171652 7171653 + Frame_Shift_Ins INS - - C TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr12:7171652_7171653insC ENST00000406697.1 + 8 1101_1102 c.473_474insC c.(472-474)tccfs p.S158fs C1S_ENST00000360817.5_Frame_Shift_Ins_p.S158fs|C1S_ENST00000328916.3_Frame_Shift_Ins_p.S158fs|C1S_ENST00000402681.3_5'UTR P09871 C1S_HUMAN complement component 1, s subcomponent 158 EGF-like; calcium-binding. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) TTCTGCTCCTGCCCCCCGGAAT 0.455 7 160 --- --- --- --- RP11-705C15.3 0 broad.mit.edu 37 12 9811484 9811485 + RNA INS - - A rs146817472 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr12:9811484_9811485insA ENST00000537616.1 + 0 63 ctgtgtctcagaaaaaaaaaaa 0.460 3 4 --- --- --- --- RP11-174G6.1 0 broad.mit.edu 37 12 14869921 14869921 + RNA DEL C C - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr12:14869921delC ENST00000501178.2 + 0 247 CCAAGTTCCAcccactaaagg 0.473 2 4 --- --- --- --- RP11-847H18.3 0 broad.mit.edu 37 12 34208174 34208174 + RNA DEL G G - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr12:34208174delG ENST00000537655.1 + 0 211 TTAAACTAAAGCAAAAGTGAA 0.323 2 4 --- --- --- --- RP11-370I10.6 0 broad.mit.edu 37 12 48806563 48806563 + RNA DEL T T - rs66490262 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr12:48806563delT ENST00000548257.1 + 0 237 GGttttactcttttttttttt 0.423 2 4 --- --- --- --- LOC100507065 100507065 broad.mit.edu 37 12 66033519 66033520 + RNA INS - - CTCTCT rs62965461 by1000genomes TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr12:66033519_66033520insCTCTCT ENST00000546198.1 - 0 104 GCTTTCTCTCGCTCTCTCTGac 0.446 5 4 --- --- --- --- TPH2 121278 broad.mit.edu 37 12 72440554 72440554 + RNA DEL T T - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr12:72440554delT ENST00000548885.1 - 0 462 ttgctggggcttttttttttt 0.433 3 5 --- --- --- --- RP1-34H18.1 0 broad.mit.edu 37 12 77877963 77877964 + RNA INS - - G TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr12:77877963_77877964insG ENST00000550042.1 + 0 574 AAGAAGGCAGAGGGGGCAGTGA 0.500 2 4 --- --- --- --- RP11-328J6.1 0 broad.mit.edu 37 12 103526102 103526126 + RNA DEL CTGGGGTCCTGAAATGGCTCCCTAA CTGGGGTCCTGAAATGGCTCCCTAA - rs111481333 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr12:103526102_103526126delCTGGGGTCCTGAAATGGCTCCCTAA ENST00000548594.1 - 0 167 RP11-328J6.1_ENST00000548415.1_RNA cagggcttggctggggtcctgaaatggctccctaacatgggaaaa 0.489 8 2 --- --- --- --- RP4-601P9.2 0 broad.mit.edu 37 12 115200540 115200541 + RNA DEL GT GT - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr12:115200540_115200541delGT ENST00000551875.1 + 0 656 gtgtgcgtgcgtgtgtgtgtgt 0.559 3 5 --- --- --- --- RP11-148B3.2 0 broad.mit.edu 37 12 116820290 116820293 + RNA DEL ACTC ACTC - rs72358621 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr12:116820290_116820293delACTC ENST00000548506.1 + 0 224 acacgcacatactcacattagcgt 0.495 4 2 --- --- --- --- RP11-357K6.3 0 broad.mit.edu 37 12 119292832 119292833 + RNA INS - - AGAC rs141961498 by1000genomes TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr12:119292832_119292833insAGAC ENST00000544515.1 - 0 447 agagaggagagagagagagaga 0.470 2 4 --- --- --- --- LOC100996671 100996671 broad.mit.edu 37 12 127157572 127157573 + RNA DEL TG TG - rs61941414 by1000genomes TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr12:127157572_127157573delTG ENST00000537478.1 - 0 234 RP11-407A16.4_ENST00000541769.1_lincRNA tgttttgttttgttttgtttgt 0.317 5 2 --- --- --- --- TPTE2P6 374491 broad.mit.edu 37 13 25156885 25156888 + RNA DEL GTGT GTGT - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr13:25156885_25156888delGTGT ENST00000453498.1 + 0 473 AAATATTGGGGTGTGTGTGTGTGT 0.343 2 4 --- --- --- --- RP11-141M1.3 0 broad.mit.edu 37 13 34014408 34014408 + RNA DEL A A - rs663369 by1000genomes TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr13:34014408delA ENST00000454681.2 - 0 226 agaacgaggcaaaaaaaaaaa 0.473 2 4 --- --- --- --- LINC00598 646982 broad.mit.edu 37 13 41033203 41033218 + RNA DEL AGGGAGAGAGGGAGGG AGGGAGAGAGGGAGGG - rs11268012 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr13:41033203_41033218delAGGGAGAGAGGGAGGG ENST00000400430.2 - 0 492 GAAAAAAGAAagggagagagggagggagggagagag 0.444 4 6 --- --- --- --- LINC00348 100885781 broad.mit.edu 37 13 71604068 71604069 + RNA INS - - C rs151041715 by1000genomes TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr13:71604068_71604069insC ENST00000428761.1 + 0 108 NR_047699.1 atcaaattctgccctccagagg 0.416 5 1 --- --- --- --- RNF219-AS1 100874222 broad.mit.edu 37 13 78753491 78753491 + RNA DEL T T - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr13:78753491delT ENST00000607862.1 + 0 230 RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000606803.1_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000606187.1_RNA|RNF219-AS1_ENST00000605996.1_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000560209.2_RNA ccccgcccccttttttttggt 0.393 2 4 --- --- --- --- LOC728755 728755 broad.mit.edu 37 14 27765327 27765328 + RNA INS - - C rs112978932 by1000genomes TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr14:27765327_27765328insC ENST00000553392.1 - 0 528 ttctgccccagcccccccaaac 0.421 3 6 --- --- --- --- RP11-966I7.3 0 broad.mit.edu 37 14 29288953 29288956 + RNA DEL ACAC ACAC - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr14:29288953_29288956delACAC ENST00000549013.1 - 0 171 agtgctcaagacacacacacacac 0.441 3 4 --- --- --- --- LINC00639 283547 broad.mit.edu 37 14 39304293 39304298 + RNA DEL CACACA CACACA - rs5808014 by1000genomes TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr14:39304293_39304298delCACACA ENST00000553932.1 - 0 3985 CGCCCTGCTCcacacacacacacaca 0.481 2 4 --- --- --- --- CTD-2307P3.1 0 broad.mit.edu 37 14 43008556 43008557 + RNA DEL GA GA - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr14:43008556_43008557delGA ENST00000557251.1 + 0 166 tcacatattggagagagagaga 0.470 2 4 --- --- --- --- CTD-2307P3.1 0 broad.mit.edu 37 14 43134143 43134146 + RNA DEL AAAC AAAC - rs113680573 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr14:43134143_43134146delAAAC ENST00000557251.1 + 0 166 tgctaactcaaaacaaacaaacaa 0.417 2 4 --- --- --- --- RP11-305B6.3 0 broad.mit.edu 37 14 44564150 44564150 + RNA DEL A A - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr14:44564150delA ENST00000553827.1 - 0 69 AGGTGCAAAGAAAAAAAAAGA 0.438 2 4 --- --- --- --- RP11-305B6.3 0 broad.mit.edu 37 14 44801158 44801158 + RNA DEL A A - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr14:44801158delA ENST00000553827.1 - 0 69 AGAATAAGTTAAATGCAAGGG 0.343 2 4 --- --- --- --- LINC00871 100506412 broad.mit.edu 37 14 46618442 46618446 + RNA DEL TTTGT TTTGT - rs139706144 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr14:46618442_46618446delTTTGT ENST00000556886.1 + 0 58 NR_102701.1 ccagcatctgtttgttttgttttgt 0.376 4 3 --- --- --- --- LOC100506446 100506446 broad.mit.edu 37 14 50418492 50418492 + RNA DEL T T - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr14:50418492delT ENST00000556913.1 - 0 339 TATGAACATGTTTTTTTCCCC 0.393 3 5 --- --- --- --- LOC101927598 101927598 broad.mit.edu 37 14 52261307 52261308 + RNA DEL TT TT - rs71121665 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr14:52261307_52261308delTT ENST00000553312.1 + 0 1968 CTACTGTATCTTTTTTTTTTTG 0.282 5 4 --- --- --- --- DIO2-AS1 100628307 broad.mit.edu 37 14 80813021 80813021 + RNA DEL A A - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr14:80813021delA ENST00000553979.1 + 0 178 NR_038355.1 ATTACAAAATAACATATTTAG 0.393 2 4 --- --- --- --- RP11-33N16.3 0 broad.mit.edu 37 14 90186526 90186526 + RNA DEL T T - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr14:90186526delT ENST00000555070.1 - 0 170 gatctgatggttttataaggg 0.507 2 4 --- --- --- --- RP11-164H13.1 0 broad.mit.edu 37 14 96219291 96219292 + RNA INS - - T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr14:96219291_96219292insT ENST00000556386.1 + 0 326 RP11-164H13.1_ENST00000553445.1_RNA|RP11-164H13.1_ENST00000547644.2_RNA TTAATATTTTGTTTTTCCTTTG 0.426 2 4 --- --- --- --- RP11-61O1.1 0 broad.mit.edu 37 14 98584472 98584472 + RNA DEL C C - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr14:98584472delC ENST00000555776.1 - 0 121 ACTGTTACTTCCATAGATCAT 0.333 2 4 --- --- --- --- LOC101927079 101927079 broad.mit.edu 37 15 22307878 22307878 + RNA DEL A A - rs149075290 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr15:22307878delA ENST00000558896.1 + 0 99 tgttacaaacaatgcaattat 0.294 3 4 --- --- --- --- DPH6-AS1 100507466 broad.mit.edu 37 15 36006640 36006640 + RNA DEL A A - rs112186531 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr15:36006640delA ENST00000501169.2 + 0 462 NR_038251.1 aaaagaaaggaaaaaaaaaag 0.453 2 4 --- --- --- --- RP11-624L4.1 0 broad.mit.edu 37 15 39625985 39625986 + RNA INS - - TC rs71917911 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr15:39625985_39625986insTC ENST00000559318.1 - 0 408 RP11-624L4.1_ENST00000560484.1_RNA|RP11-624L4.1_ENST00000558209.1_RNA gtgtttgtctgtctctgtgtgt 0.391 3 6 --- --- --- --- SORD2P 653381 broad.mit.edu 37 15 45120167 45120167 + RNA DEL T T - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr15:45120167delT ENST00000561384.2 - 0 1023 cctcccAttcttttttttttt 0.517 2 4 --- --- --- --- RP11-208K4.1 0 broad.mit.edu 37 15 48240127 48240128 + RNA DEL CA CA - rs57512482 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr15:48240127_48240128delCA ENST00000560900.1 + 0 195 CTD-2007H18.1_ENST00000558370.1_lincRNA CGCGTacacgcacacacacaca 0.416 4 8 --- --- --- --- RP11-548M13.1 0 broad.mit.edu 37 15 55375257 55375257 + RNA DEL T T - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr15:55375257delT ENST00000569661.1 + 0 166 ggtgttgacatttttttttta 0.368 2 4 --- --- --- --- USP3-AS1 100130855 broad.mit.edu 37 15 63889045 63889046 + RNA INS - - T rs67198039 by1000genomes TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr15:63889045_63889046insT ENST00000560962.1 - 0 548 USP3-AS1_ENST00000559737.1_RNA|USP3-AS1_ENST00000561191.1_RNA|USP3-AS1_ENST00000558831.1_RNA|USP3-AS1_ENST00000561256.1_RNA|USP3-AS1_ENST00000560622.1_RNA TGGCACAAAAATAACAGGAATG 0.545 7 1 --- --- --- --- RP11-665J16.1 0 broad.mit.edu 37 15 74462428 74462429 + RNA DEL GC GC - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr15:74462428_74462429delGC ENST00000561647.1 - 0 71 GTGTGTGTGTGCGCGCGcacac 0.530 6 2 --- --- --- --- LINC00927 283688 broad.mit.edu 37 15 80562171 80562171 + RNA DEL A A - rs76164422 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr15:80562171delA ENST00000558913.1 - 0 252 NR_033833.1 CAGGATGCTGAAAAAAAAATC 0.423 3 6 --- --- --- --- RP11-266O8.1 0 broad.mit.edu 37 15 93856823 93856846 + RNA DEL CCTCCCTCCCTTCCTTCCTTCCTT CCTCCCTCCCTTCCTTCCTTCCTT - rs72151927 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr15:93856823_93856846delCCTCCCTCCCTTCCTTCCTTCCTT ENST00000543286.1 + 0 421 tccctccctccctccctcccttccttccttccttccttccttcc 0.536 2 4 --- --- --- --- NR2F2-AS1 644192 broad.mit.edu 37 15 96747448 96747449 + RNA INS - - T rs71874405 by1000genomes TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr15:96747448_96747449insT ENST00000559505.1 - 0 254 NR2F2-AS1_ENST00000560800.1_RNA tttgttttttgttttttttgtt 0.431 2 4 --- --- --- --- NR2F2-AS1 644192 broad.mit.edu 37 15 96767550 96767550 + RNA DEL C C - rs35943386 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr15:96767550delC ENST00000560800.1 - 0 220 gcagtatgggcccaggtctct 0.527 2 4 --- --- --- --- RP11-10K17.6 0 broad.mit.edu 37 16 5185716 5185716 + RNA DEL T T - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr16:5185716delT ENST00000589323.1 + 0 451 aggcatgaggttgaggcatga 0.517 2 4 --- --- --- --- CTA-481E9.3 0 broad.mit.edu 37 16 18215654 18215657 + RNA DEL GTTT GTTT - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr16:18215654_18215657delGTTT ENST00000563866.1 - 0 48 CTA-481E9.4_ENST00000567304.1_lincRNA ACTGCTTATGgtttgtttgtttgt 0.402 4 5 --- --- --- --- RP11-1166P10.6 0 broad.mit.edu 37 16 32031891 32031892 + RNA INS - - G rs138909480 by1000genomes TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr16:32031891_32031892insG ENST00000566806.1 - 0 499 GAAAATGCCCAGGGGGGCCCAG 0.574 2 4 --- --- --- --- RP11-142G1.3 0 broad.mit.edu 37 16 52233367 52233368 + RNA DEL CA CA - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr16:52233367_52233368delCA ENST00000569998.1 - 0 61 TTTacatacgcacacacacaca 0.455 3 5 --- --- --- --- RP11-343H19.2 0 broad.mit.edu 37 16 56720566 56720567 + RNA INS - - A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr16:56720566_56720567insA ENST00000567563.1 + 0 321 gaccctgtctcaaaaaacaaaa 0.520 2 4 --- --- --- --- RP11-410D17.2 0 broad.mit.edu 37 16 58937587 58937588 + RNA INS - - T rs11371466 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr16:58937587_58937588insT ENST00000500117.1 + 0 679 gggcatgcttcttttttttttt 0.490 4 2 --- --- --- --- LOC101927580 101927580 broad.mit.edu 37 16 60049636 60049637 + RNA DEL GA GA - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr16:60049636_60049637delGA ENST00000568279.1 + 0 173 aaggaggcaggagagagagaga 0.480 2 4 --- --- --- --- DPEP2 64174 broad.mit.edu 37 16 68026995 68026996 + Frame_Shift_Ins INS - - G TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr16:68026995_68026996insG ENST00000412757.2 - 3 785_786 c.120_121insC c.(118-123)ccgagcfs p.S41fs DPEP2_ENST00000572888.1_Frame_Shift_Ins_p.S41fs|DPEP2_ENST00000393847.1_Frame_Shift_Ins_p.S41fs Q9H4A9 DPEP2_HUMAN dipeptidase 2 41 hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis anchored to membrane|plasma membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1) 17 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239) GTGAGGGCTCTGGGGGGGCCTG 0.678 2 4 --- --- --- --- CTD-2009A10.1 0 broad.mit.edu 37 16 73579693 73579694 + RNA DEL AA AA - rs149606944 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr16:73579693_73579694delAA ENST00000567227.1 + 0 68 TGCTGaaattaaaaaaaaaaaa 0.371 3 3 --- --- --- --- RP11-252E2.2 0 broad.mit.edu 37 16 75177780 75177780 + RNA DEL G G - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr16:75177780delG ENST00000563098.1 + 0 397 tcaaactcctgggctcaaggg 0.502 2 4 --- --- --- --- CTD-2336H13.2 0 broad.mit.edu 37 16 76785787 76785787 + RNA DEL A A - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr16:76785787delA ENST00000567777.1 + 0 138 GTGTGAAATTATGCCATAGTG 0.473 2 4 --- --- --- --- CTD-2336H13.2 0 broad.mit.edu 37 16 76842914 76842915 + RNA INS - - A rs138549379 by1000genomes TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr16:76842914_76842915insA ENST00000567777.1 + 0 138 acgcagctgataaacagaccat 0.431 4 6 --- --- --- --- LOC102724084 102724084 broad.mit.edu 37 16 80468018 80468018 + RNA DEL C C - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr16:80468018delC ENST00000565050.1 - 0 598 RP11-525K10.3_ENST00000568776.1_RNA|RP11-525K10.3_ENST00000568819.1_RNA GCCTCTAGTTCCCAGATCCTG 0.453 5 3 --- --- --- --- LOC100996425 100996425 broad.mit.edu 37 16 80923138 80923139 + RNA INS - - TT rs5818315 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr16:80923138_80923139insTT ENST00000562231.1 - 0 91 ttttggttttgttttttttttt 0.441 3 5 --- --- --- --- PKD1L2 114780 broad.mit.edu 37 16 81146182 81146183 + RNA INS - - GAG TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr16:81146182_81146183insGAG ENST00000533478.1 - 0 4828 PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000534142.1_RNA NM_001278425.1 NP_001265354.1 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 atgatgatgatgatgaggggga 0.480 2 4 --- --- --- --- LOC101928475 101928475 broad.mit.edu 37 17 14923879 14923880 + RNA INS - - A rs34944906 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr17:14923879_14923880insA ENST00000446671.1 + 0 54 actaaaaatacaaaaaaaaaaa 0.460 4 3 --- --- --- --- RP11-218F4.1 0 broad.mit.edu 37 17 26269053 26269054 + RNA DEL GT GT - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr17:26269053_26269054delGT ENST00000567574.1 - 0 136 ATCATGAGGGgtgtgtgtgtgt 0.446 2 4 --- --- --- --- RP11-51L5.5 0 broad.mit.edu 37 17 60368374 60368374 + RNA DEL A A - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr17:60368374delA ENST00000602493.1 - 0 273 AGTAACAATTAAAAAAAAACT 0.289 3 5 --- --- --- --- LINC00469 283982 broad.mit.edu 37 17 71767408 71767409 + RNA INS - - TA TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr17:71767408_71767409insTA ENST00000321800.7 - 0 211 gtgtgtgtgtgtgtatgtgttt 0.475 4 2 --- --- --- --- LOC101929650 101929650 broad.mit.edu 37 17 81102081 81102081 + RNA DEL A A - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr17:81102081delA ENST00000572343.1 + 0 522 CTCCCCAAGTAAAGTGGGGGC 0.622 2 4 --- --- --- --- RP11-78F17.1 0 broad.mit.edu 37 18 982179 982180 + RNA INS - - A rs141412296 by1000genomes TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr18:982179_982180insA ENST00000580781.1 + 0 306 caaccttctccggtctactcgc 0.480 4 5 --- --- --- --- RP11-476K15.1 0 broad.mit.edu 37 18 1572469 1572470 + RNA INS - - A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr18:1572469_1572470insA ENST00000583163.1 + 0 114 ttgattcagggaaaaatcatca 0.252 2 4 --- --- --- --- ROCK1 6093 broad.mit.edu 37 18 18629104 18629105 + Frame_Shift_Ins INS - - A rs35810558 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr18:18629104_18629105insA ENST00000399799.1 - 4 1302_1303 c.362_363insT c.(361-363)ttgfs p.L121fs NM_005406.2 NP_005397.1 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein kinase 1 121 Protein kinase. actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2) 16 Melanoma(1;0.165) TTTCTTCCCAGAAAAAAGCAGA 0.361 31 83 --- --- --- --- RP11-449D8.5 0 broad.mit.edu 37 18 22316059 22316061 + RNA DEL GTG GTG - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr18:22316059_22316061delGTG ENST00000582650.1 + 0 235 tgagtgtgttgtgtgtgtgtgtt 0.389 4 2 --- --- --- --- LINC00669 647946 broad.mit.edu 37 18 37043504 37043504 + RNA DEL A A - rs141861299 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr18:37043504delA ENST00000591629.1 - 0 440 NR_024391.1 TCACTGAGGTAAAAAAAAAAA 0.308 3 4 --- --- --- --- LINC01538 400654 broad.mit.edu 37 18 61918176 61918176 + RNA DEL T T - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr18:61918176delT ENST00000588074.1 - 0 443 RP11-146N18.1_ENST00000589376.1_lincRNA NR_033983.1 TTGTTTTTTGTTTTTTTTTTT 0.363 3 4 --- --- --- --- LOC284241 284241 broad.mit.edu 37 18 77409003 77409007 + RNA DEL TCCTC TCCTC - rs112616953 by1000genomes TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr18:77409003_77409007delTCCTC ENST00000317008.4 - 0 518 AGTCCTGCTGTCCTCCCCTCTCCAG 0.668 2 4 --- --- --- --- SMARCA4 6597 broad.mit.edu 37 19 11107209 11107209 + Frame_Shift_Del DEL C C - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr19:11107209delC ENST00000358026.2 + 11 2085 c.1801delC c.(1801-1803)cgfs p.P601fs SMARCA4_ENST00000589677.1_Frame_Shift_Del_p.P601fs|SMARCA4_ENST00000444061.3_Frame_Shift_Del_p.P601fs|SMARCA4_ENST00000590574.1_Frame_Shift_Del_p.P601fs|SMARCA4_ENST00000429416.3_Frame_Shift_Del_p.P601fs|SMARCA4_ENST00000344626.4_Frame_Shift_Del_p.P601fs|SMARCA4_ENST00000450717.3_Frame_Shift_Del_p.P601fs|SMARCA4_ENST00000413806.3_Frame_Shift_Del_p.P601fs|SMARCA4_ENST00000541122.2_Frame_Shift_Del_p.P601fs NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 601 chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) TGCCATTGGGCCGGATGGCGA 0.507 """F, N, Mis""" NSCLC 45 91 --- --- --- --- LOC100420587 100420587 broad.mit.edu 37 19 29059634 29059635 + RNA INS - - A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr19:29059634_29059635insA ENST00000592347.1 - 0 642 AC005616.1_ENST00000589999.1_RNA tcatatctactaaaaaacaaaa 0.510 2 4 --- --- --- --- LOC100420587 100420587 broad.mit.edu 37 19 29072306 29072306 + RNA DEL T T - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr19:29072306delT ENST00000592347.1 - 0 642 AC005616.1_ENST00000589999.1_RNA TAGAAGAGACTTTTTTTTTCC 0.488 2 4 --- --- --- --- CTC-439O9.3 0 broad.mit.edu 37 19 31676010 31676011 + RNA INS - - A rs72109725 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr19:31676010_31676011insA ENST00000589511.1 + 0 223 gaaacaacaacaaaaaaaaaaa 0.446 3 4 --- --- --- --- CEACAM20 125931 broad.mit.edu 37 19 45032185 45032192 + RNA DEL TTCTTTTC TTCTTTTC - rs112438515 by1000genomes TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr19:45032185_45032192delTTCTTTTC ENST00000454753.1 - 0 331 Q6UY09 CEA20_HUMAN carcinoembryonic antigen-related cell adhesion molecule 20 integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1) 15 Prostate(69;0.0352) ttttctttctttcttttctttctttctt 0.385 2 4 --- --- --- --- FLJ26850 400710 broad.mit.edu 37 19 50567905 50567906 + RNA DEL GA GA - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr19:50567905_50567906delGA ENST00000527209.1 + 0 806 NR_027257.1 gggttgtggggagagagagaga 0.446 2 4 --- --- --- --- RPL23AP79 100271626 broad.mit.edu 37 19 59091278 59091279 + RNA INS - - TTCC rs10674364 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr19:59091278_59091279insTTCC ENST00000493504.1 + 0 129 NR_026052.1 CTCTATTttctttccttccttc 0.446 2 4 --- --- --- --- RP11-103J8.1 0 broad.mit.edu 37 20 10823679 10823680 + RNA INS - - A rs73084798 by1000genomes TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr20:10823679_10823680insA ENST00000605292.1 + 0 98 TGACAAAAAGGAAAAAAAAAGG 0.317 2 4 --- --- --- --- KIZ-AS1 101929591 broad.mit.edu 37 20 21148198 21148198 + RNA DEL G G - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr20:21148198delG ENST00000591761.1 - 0 5051 PLK1S1_ENST00000457464.1_RNA TGTTTGTTTCGCttttttttt 0.438 3 3 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11050147 11050147 + RNA DEL G G - rs60052903 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr21:11050147delG ENST00000470054.1 - 0 487 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) GCTTTTTTTTGATTACTGGAA 0.274 6 13 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11065702 11065703 + RNA INS - - A rs144462927 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr21:11065702_11065703insA 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) acacattacagaaaaaaaaatc 0.243 3 5 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11069158 11069158 + RNA DEL T T - rs57408407 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr21:11069158delT 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) gaataatatattaaaaaaaac 0.284 3 6 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11069159 11069160 + RNA DEL TA TA - rs4009917 by1000genomes TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr21:11069159_11069160delTA 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) aataatatattaaaaaaaactt 0.277 3 6 --- --- --- --- LINC00649 100506334 broad.mit.edu 37 21 35318325 35318326 + RNA DEL TG TG - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr21:35318325_35318326delTG ENST00000427447.1 + 0 669 LINC00649_ENST00000596365.1_RNA|LINC00649_ENST00000597626.1_RNA|LINC00649_ENST00000595747.1_RNA|LINC00649_ENST00000594752.1_RNA|LINC00649_ENST00000598119.1_RNA|LINC00649_ENST00000400353.2_RNA|LINC00649_ENST00000594370.1_RNA NR_038883.1 aacactccaatgtgtgtgtgtt 0.307 2 4 --- --- --- --- LOC100133286 100133286 broad.mit.edu 37 21 37485932 37485933 + RNA INS - - A rs78022118 by1000genomes TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr21:37485932_37485933insA ENST00000535199.1 - 0 154 NR_040084.1 aactctgactcaaaaaaaaaca 0.535 3 3 --- --- --- --- LL22NC03-86D4.1 0 broad.mit.edu 37 22 34581387 34581388 + RNA INS - - A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chr22:34581387_34581388insA ENST00000412218.1 + 0 661 aaatggattagaaaaaaaatga 0.307 2 4 --- --- --- --- MID1 4281 broad.mit.edu 37 X 11045797 11045798 + RNA INS - - T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chrX:11045797_11045798insT ENST00000433747.2 - 0 423 tatgaaacctgtttttttttct 0.347 2 4 --- --- --- --- PTCHD1-AS 100873065 broad.mit.edu 37 X 22830097 22830097 + RNA DEL A A - rs11300602 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chrX:22830097delA ENST00000455399.1 - 0 178 actccatctcaaaaaaaaaaa 0.423 2 4 --- --- --- --- RP11-305F18.1 0 broad.mit.edu 37 X 33882017 33882018 + RNA INS - - T TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chrX:33882017_33882018insT ENST00000439992.1 + 0 229 TGTTTTTTAGCTTTTTTTTTCC 0.312 2 4 --- --- --- --- RP1-154K9.2 0 broad.mit.edu 37 X 42305384 42305385 + RNA INS - - A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chrX:42305384_42305385insA ENST00000411879.1 + 0 452 ccggttcccccaaaactattca 0.356 2 4 --- --- --- --- LINC01420 550643 broad.mit.edu 37 X 56776900 56776901 + RNA INS - - A rs76134317 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chrX:56776900_56776901insA ENST00000374922.4 + 0 468 NR_015367.2 ctgggttaaataaaaaaaatat 0.411 3 3 --- --- --- --- LINC01278 92249 broad.mit.edu 37 X 62748649 62748650 + RNA INS - - C TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chrX:62748649_62748650insC ENST00000433061.1 - 0 218 accctcccctaccccccagcag 0.525 2 4 --- --- --- --- FAM155B 27112 broad.mit.edu 37 X 68725627 68725627 + Frame_Shift_Del DEL C C - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chrX:68725627delC ENST00000252338.4 + 1 544 c.502delC c.(502-504)ccfs p.P169fs NM_015686.2 NP_056501.2 O75949 F155B_HUMAN family with sequence similarity 155, member B 169 integral to membrane autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1) 16 CCCTCTGCGGCCCCCTGACTC 0.607 7 24 --- --- --- --- RP5-1091N2.9 0 broad.mit.edu 37 X 70405940 70405941 + RNA INS - - A rs79117152 TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chrX:70405940_70405941insA ENST00000450860.1 - 0 267 gactccgtctcaaaaaaaaaaa 0.480 3 3 --- --- --- --- LINC00630 100287765 broad.mit.edu 37 X 102088960 102088961 + RNA INS - - C TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chrX:102088960_102088961insC ENST00000440496.1 + 0 499 NR_038988.1 tctcccctcttccccccatctc 0.351 2 4 --- --- --- --- ACSL4 2182 broad.mit.edu 37 X 108871648 108871649 + RNA DEL TC TC - TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chrX:108871648_108871649delTC ENST00000439581.1 - 0 386 ctctctcaaatctctctctctc 0.332 2 4 --- --- --- --- GS1-256O22.5 0 broad.mit.edu 37 X 142594436 142594437 + RNA DEL GC GC - rs71966790 by1000genomes TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37049bf1-55cb-44d3-b673-1e270ea835f7 9e803734-0ff2-4d47-a8ae-73998b48a10d g.chrX:142594436_142594437delGC ENST00000431432.1 + 0 268 ttaaaatttggcgtgtgtgtgt 0.347 7 13 --- --- --- ---