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 FAM66D 0 broad.mit.edu 37 8 11986053 11986053 + RNA SNP G G A TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr8:11986053G>A ENST00000434078.2 + 0 608 NR_027425.1 CACAATGATAGGCATTCTCTC 0.507000 6 218 0 0 1 0 0 BTN2A3P 0 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 29 629 0 0 1 0 0 SCN9A 6335 broad.mit.edu 37 2 167162315 167162315 + Missense_Mutation SNP C C T TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr2:167162315C>T ENST00000303354.6 - 5 926 c.586G>A c.(586-588)Gtc>Atc p.V196I SCN9A_ENST00000409672.1_Missense_Mutation_p.V195I|SCN9A_ENST00000409435.1_Missense_Mutation_p.V195I|SCN9A_ENST00000375387.4_Missense_Mutation_p.V196I Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 195 voltage-gated sodium channel complex voltage-gated sodium channel activity p.V195I(2) NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) AAAACAATGACGACAAAATCC 0.398000 37 331 0 0 1 0 0 GDPD5 81544 broad.mit.edu 37 11 75152278 75152278 + Missense_Mutation SNP G G A TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr11:75152278G>A ENST00000526177.1 - 10 2867 c.989C>T c.(988-990)gCg>gTg p.A330V GDPD5_ENST00000529721.1_Missense_Mutation_p.A468V|GDPD5_ENST00000336898.3_Missense_Mutation_p.A468V|GDPD5_ENST00000376282.3_Missense_Mutation_p.A349V|GDPD5_ENST00000533784.1_Missense_Mutation_p.A349V|GDPD5_ENST00000533805.1_Missense_Mutation_p.A223V|GDPD5_ENST00000443276.2_3'UTR Q8WTR4 GDPD5_HUMAN glycerophosphodiester phosphodiesterase domain containing 5 468 GDPD. glycerol metabolic process|lipid metabolic process|nervous system development endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm glycerophosphodiester phosphodiesterase activity p.A468V(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2) 20 TGGGACCCCCGCACACCACAG 0.657000 15 267 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56466562 56466562 + Missense_Mutation SNP T T A TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr19:56466562T>A ENST00000291971.3 + 3 1209 c.1138T>A c.(1138-1140)Ttg>Atg p.L380M NLRP8_ENST00000590542.1_Missense_Mutation_p.L380M NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 380 NACHT. cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) AGACCAAGTCTTGAGTTTCGC 0.478000 16 597 0 0 1 0 0 GJB1 2705 broad.mit.edu 37 X 70444246 70444246 + Missense_Mutation SNP G G A TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chrX:70444246G>A ENST00000374022.3 + 2 784 c.689G>A c.(688-690)cGc>cAc p.R230H GJB1_ENST00000374029.1_Missense_Mutation_p.R230H|GJB1_ENST00000361726.6_Missense_Mutation_p.R230H NM_001097642.2 NP_001091111.1 P08034 CXB1_HUMAN gap junction protein, beta 1, 32kDa 230 R -> C (in CMTX1; localized mainly on the cell membrane forming gap junction-like plaques).|R -> L (in CMTX1; localized mainly on the cell membrane forming gap junction-like plaques). cell-cell signaling|cellular membrane organization|gap junction assembly|nervous system development connexon complex|endoplasmic reticulum membrane|integral to membrane gap junction channel activity breast(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(1) 10 Renal(35;0.156) CCACCTTCCCGCAAGGGCTCG 0.602000 9 161 0 0 1 0 0 KRTAP6-2 337967 broad.mit.edu 37 21 31971102 31971102 + Missense_Mutation SNP C C T TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr21:31971102C>T ENST00000334897.3 - 1 117 c.92G>A c.(91-93)cGc>cAc p.R31H NM_181604.1 NP_853635.1 Q3LI66 KRA62_HUMAN keratin associated protein 6-2 31 intermediate filament endometrium(2)|kidney(1)|large_intestine(4)|lung(4) 11 ATAGCCACAGCGCAGGCTTCC 0.562000 29 294 0 0 1 0 0 CASP8 841 broad.mit.edu 37 2 202131315 202131315 + Nonsense_Mutation SNP G G T TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr2:202131315G>T ENST00000358485.4 + 2 479 c.283G>T c.(283-285)Gaa>Taa p.E95* CASP8_ENST00000392258.3_Nonsense_Mutation_p.E36*|CASP8_ENST00000392259.2_Nonsense_Mutation_p.E36*|CASP8_ENST00000392266.3_Nonsense_Mutation_p.E36*|CASP8_ENST00000264274.9_Nonsense_Mutation_p.E36*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.E36*|CASP8_ENST00000323492.7_Nonsense_Mutation_p.E36*|CASP8_ENST00000432109.2_Nonsense_Mutation_p.E36* NM_001080125.1 NP_001073594.1 Q14790 CASP8_HUMAN caspase 8, apoptosis-related cysteine peptidase 36 activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3) 52 AAGGAAGCAAGAACCCATCAA 0.468000 HNSCC(4;0.00038) 30 270 1.30988e-24 1.41221e-24 1 1 0 SPATA31A6 389730 broad.mit.edu 37 9 43627428 43627428 + Missense_Mutation SNP G G A rs11261835 by1000genomes TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr9:43627428G>A ENST00000332857.6 - 4 1287 c.1259C>T c.(1258-1260)cCc>cTc p.P420L NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 p.P420L(1) GTGCAGAGAGGGGAGGCCCCA 0.498000 16 631 0 0 1 0 0 ADORA3 140 broad.mit.edu 37 1 112043018 112043018 + Missense_Mutation SNP C C T rs139935750 byFrequency TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr1:112043018C>T ENST00000241356.4 - 2 916 c.511G>A c.(511-513)Gtc>Atc p.V171I ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000369716.4_Intron NM_000677.3 NP_000668.1 P33765 AA3R_HUMAN adenosine A3 receptor 171 activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction integral to plasma membrane adenosine receptor activity, G-protein coupled NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1) 12 all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156) all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134) Adenosine(DB00640)|Aminophylline(DB01223) ATTCTCATGACGGAAACAAAT 0.453000 13 790 0 0 1 0 0 DCP1B 196513 broad.mit.edu 37 12 2062350 2062350 + Missense_Mutation SNP C C G TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr12:2062350C>G ENST00000280665.6 - 7 835 c.756G>C c.(754-756)caG>caC p.Q252H DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H|DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H NM_152640.3 NP_689853.3 Q8IZD4 DCP1B_HUMAN decapping mRNA 1B 252 Poly-Gln. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus hydrolase activity|protein binding p.Q252H(8) NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1) 24 OV - Ovarian serous cystadenocarcinoma(31;0.00193) gctgctgctgctgGTGGAGAG 0.552000 6 229 0 0 1 0 0 AURKA 6790 broad.mit.edu 37 20 54945655 54945655 + Missense_Mutation SNP C C T TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr20:54945655C>T ENST00000395909.4 - 10 1480 c.915G>A c.(913-915)atG>atA p.M305I AURKA_ENST00000371356.2_Missense_Mutation_p.M305I|AURKA_ENST00000395914.1_Missense_Mutation_p.M305I|AURKA_ENST00000312783.6_Missense_Mutation_p.M305I|AURKA_ENST00000395911.1_Missense_Mutation_p.M305I|AURKA_ENST00000395907.1_Missense_Mutation_p.M305I|AURKA_ENST00000395915.3_Missense_Mutation_p.M305I|AURKA_ENST00000395913.3_Missense_Mutation_p.M305I|AURKA_ENST00000347343.2_Missense_Mutation_p.M305I NM_198433.1 NP_940835.1 O14965 AURKA_HUMAN aurora kinase A 305 Protein kinase. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome ATP binding|protein kinase binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2) 22 Colorectal(105;0.202) TCTCATCATGCATCCGACCTT 0.498000 31 309 0 0 1 0 0 RP11-252A24.2 0 broad.mit.edu 37 16 74372644 74372644 + RNA SNP A A G TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr16:74372644A>G ENST00000429810.2 - 0 1552 TACCCTTGTCAGGGGGAACAA 0.443000 10 183 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 4185418 4185418 + Silent SNP C C T TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr7:4185418C>T ENST00000404826.2 + 29 4432 c.4293C>T c.(4291-4293)ggC>ggT p.G1431G SDK1_ENST00000389531.3_Silent_p.G1431G NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 1431 Fibronectin type-III 8. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) TGGAGGTCGGCGCCACAGTGA 0.667000 26 368 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7576570 7576570 + Missense_Mutation SNP C C T TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr6:7576570C>T ENST00000379802.3 + 19 3015 c.2674C>T c.(2674-2676)Cgt>Tgt p.R892C DSP_ENST00000418664.2_Missense_Mutation_p.R892C NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 892 Globular 1. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) GAGGAATTATCGTGATAACTA 0.388000 9 354 0 0 1 0 0 PCDHGA7 0 broad.mit.edu 37 5 140764634 140764634 + Missense_Mutation SNP G G A TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr5:140764634G>A ENST00000518325.1 + 1 2168 c.2168G>A c.(2167-2169)cGc>cAc p.R723H PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018920.2 NP_061743.1 NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACAAGTCACGCCTGCTGCAG 0.627000 25 306 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13717016 13717016 + Silent SNP G G A TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr12:13717016G>A ENST00000279593.3 - 13 3365 c.3156C>T c.(3154-3156)caC>caT p.H1052H NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 1052 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) TCAAGTCGTCGTGGCCACTGT 0.572000 15 153 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367767 145367767 + Missense_Mutation SNP G G A rs77484671 TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr1:145367767G>A ENST00000342960.5 + 83 10398 c.10363G>A c.(10363-10365)Gaa>Aaa p.E3455K NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3455 p.E3455K(5) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) atcaaagaaggaaagaagaag 0.423000 8 319 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664639 22664639 + RNA SNP G G A rs9306349 by1000genomes TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr22:22664639G>A ENST00000426066.1 + 0 820 NR_027293.1 CCAGCCTTCTGTAACCCAGTA 0.428000 11 224 0 0 1 0 0 TNC 3371 broad.mit.edu 37 9 117849313 117849313 + Missense_Mutation SNP T T C TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr9:117849313T>C ENST00000350763.4 - 3 1108 c.697A>G c.(697-699)Aat>Gat p.N233D TNC_ENST00000423613.2_Missense_Mutation_p.N233D|TNC_ENST00000340094.3_Missense_Mutation_p.N233D|TNC_ENST00000346706.3_Missense_Mutation_p.N233D|TNC_ENST00000535648.1_Missense_Mutation_p.N233D|TNC_ENST00000345230.3_Missense_Mutation_p.N233D|TNC_ENST00000542877.1_Missense_Mutation_p.N233D|TNC_ENST00000341037.4_Missense_Mutation_p.N233D|TNC_ENST00000537320.1_Missense_Mutation_p.N233D NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 233 EGF-like 3. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 CAGACTCCATTTACGCACTTG 0.602000 22 361 0 0 1 0 0 SLC6A10P 0 broad.mit.edu 37 16 32890639 32890639 + RNA SNP T T C rs79284655 TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr16:32890639T>C ENST00000330048.5 - 0 3159 NR_003083.2 ACCAGCGGCTTGTAGTACACA 0.627000 5 169 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664141 22664141 + RNA SNP G G A TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr22:22664141G>A ENST00000426066.1 + 0 664 NR_027293.1 AAATTTGAAGGTGCTGTGATT 0.448000 10 484 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 6 243 0 0 1 0 0 NRDE2 55051 broad.mit.edu 37 14 90770393 90770393 + Silent SNP G G A rs147340971 TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr14:90770393G>A ENST00000354366.3 - 5 1123 c.891C>T c.(889-891)gaC>gaT p.D297D NRDE2_ENST00000357904.3_Silent_p.D66D NM_017970.3 NP_060440.2 NRDE-2, necessary for RNA interference, domain containing CTGGCTGTGCGTCTGGCTGCT 0.547000 60 630 0 0 1 0 0 FRMPD4 9758 broad.mit.edu 37 X 12735745 12735745 + Missense_Mutation SNP C C T TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chrX:12735745C>T ENST00000380682.1 + 16 3306 c.2800C>T c.(2800-2802)Cgc>Tgc p.R934C NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 934 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 AAACCTCTCCCGCATGTTCTT 0.547000 92 903 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 7 275 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21659575 21659575 + Splice_Site SNP T T A TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr7:21659575T>A ENST00000328843.6 + 25 4425 c.4392_splice c.e25-1 p.V1465_splice DNAH11_ENST00000409508.3_Splice_Site_p.V1460_splice|DNAH11_ENST00000465593.1_3'UTR Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1465 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 GATTACTAGGTTATTACTGAA 0.294000 Kartagener syndrome 11 328 0 0 1 0 0 PCDHB1 0 broad.mit.edu 37 5 140431928 140431928 + Silent SNP G G A TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr5:140431928G>A ENST00000306549.3 + 1 950 c.873G>A c.(871-873)acG>acA p.T291T NM_013340.2 NP_037472.2 Q9Y5F3 PCDB1_HUMAN 291 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.T291T(1) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTCTCAAGACGTTTCAGATTG 0.468000 28 278 0 0 1 0 0 SIRPB1 10326 broad.mit.edu 37 20 1592193 1592193 + Silent SNP C C T TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr20:1592193C>T ENST00000279477.7 - 2 307 c.243G>A c.(241-243)caG>caA p.Q81Q SIRPB1_ENST00000568365.1_Silent_p.Q81Q|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000381605.4_Intron|SIRPB1_ENST00000381603.3_Intron NM_001135844.2 NP_001129316.1 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 81 Ig-like V-type. cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 GGCCTTCTTTCTGATTGTAGA 0.522000 6 219 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664743 22664743 + RNA SNP G G A TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr22:22664743G>A ENST00000426066.1 + 0 924 NR_027293.1 CAGACTAAAGGCAAACAAGGA 0.498000 5 170 0 0 1 0 0 ZNF486 90649 broad.mit.edu 37 19 20308264 20308264 + Missense_Mutation SNP T T A TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr19:20308264T>A ENST00000335117.8 + 4 802 c.745T>A c.(745-747)Tac>Aac p.Y249N CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA NM_052852.3 NP_443084.2 Q96H40 ZN486_HUMAN zinc finger protein 486 249 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 11 AGTCTTTAAGTACTTCTCTAG 0.393000 23 267 0 0 1 0 0 NUAK2 81788 broad.mit.edu 37 1 205273591 205273591 + Missense_Mutation SNP C C T TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr1:205273591C>T ENST00000367157.3 - 7 1000 c.874G>A c.(874-876)Gcc>Acc p.A292T NM_030952.1 NP_112214.1 Q9H093 NUAK2_HUMAN NUAK family, SNF1-like kinase, 2 292 Protein kinase. actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 Breast(84;0.186) BRCA - Breast invasive adenocarcinoma(75;0.117) TCCAGGGTGGCCCGGCGGGTG 0.637000 4 71 0 0 1 0 0 MST1 4485 broad.mit.edu 37 3 49723596 49723596 + Missense_Mutation SNP G G A TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr3:49723596G>A ENST00000449682.2 - 9 1407 c.1046C>T c.(1045-1047)cCc>cTc p.P349L MST1_ENST00000383728.3_3'UTR NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 335 Kringle 3. proteolysis extracellular region serine-type endopeptidase activity p.P335L(5) NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) TGAGCCGTCGGGGTTCCGGCA 0.667000 5 121 0 0 1 0 0 PRKRA 8575 broad.mit.edu 37 2 179300952 179300952 + Missense_Mutation SNP C C A TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr2:179300952C>A ENST00000325748.4 - 7 904 c.704G>T c.(703-705)aGt>aTt p.S235I PRKRA_ENST00000487082.1_Missense_Mutation_p.S210I|PRKRA_ENST00000438687.3_Missense_Mutation_p.S122I|PRKRA_ENST00000432031.2_Missense_Mutation_p.S224I|AC009948.5_ENST00000453026.2_RNA NM_003690.4 NP_003681.1 O75569 PRKRA_HUMAN protein kinase, interferon-inducible double stranded RNA dependent activator 235 Sufficient for self-association and interaction with TARBP2. immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus perinuclear region of cytoplasm double-stranded RNA binding|enzyme activator activity|protein homodimerization activity central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2) 19 OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265) ATTTGGAATACTAAGGAGGCT 0.338000 29 917 3.33393e-15 3.51208e-15 1 1 0 PRUNE2 158471 broad.mit.edu 37 9 79319818 79319818 + Silent SNP G G A TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr9:79319818G>A ENST00000428286.1 - 8 7495 c.6295C>T c.(6295-6297)Ctg>Ttg p.L2099L PRUNE2_ENST00000376718.3_Silent_p.L2458L Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 2458 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 CGAATATGCAGCACAGCCAGC 0.493000 OREG0019258 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 80 0 0 1 0 0 SMAD4 4089 broad.mit.edu 37 18 48575132 48575132 + Missense_Mutation SNP T T A TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr18:48575132T>A ENST00000342988.3 + 3 864 c.326T>A c.(325-327)cTa>cAa p.L109Q RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000398417.2_Missense_Mutation_p.L109Q|SMAD4_ENST00000452201.2_Missense_Mutation_p.L109Q|SMAD4_ENST00000588745.1_Missense_Mutation_p.L109Q NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 109 MH1. BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(36)|p.?(4) NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) AAAAATGAACTAAAACATGTT 0.393000 33 379 0 0 1 0 0 FAM208B 54906 broad.mit.edu 37 10 5788328 5788328 + Missense_Mutation SNP G G A TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr10:5788328G>A ENST00000328090.5 + 15 3569 c.2944G>A c.(2944-2946)Gat>Aat p.D982N NM_017782.4 NP_060252.4 Q5VWN6 CJ018_HUMAN family with sequence similarity 208, member B 982 CAGGACTTACGATGGGCCTGG 0.468000 27 353 0 0 1 0 0 PPEF1 5475 broad.mit.edu 37 X 18797154 18797154 + Silent SNP G G A TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chrX:18797154G>A ENST00000361511.4 + 10 1079 c.585G>A c.(583-585)ccG>ccA p.P195P PPEF1_ENST00000544635.1_Silent_p.P130P|PPEF1_ENST00000543630.1_Silent_p.P195P|PPEF1_ENST00000359763.6_Silent_p.P142P|PPEF1_ENST00000349874.5_Silent_p.P195P NM_006240.2|NM_152224.1 NP_006231.2|NP_689410.1 O14829 PPE1_HUMAN protein phosphatase, EF-hand calcium binding domain 1 195 Catalytic. detection of stimulus involved in sensory perception|protein dephosphorylation calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 43 Hepatocellular(33;0.183) AGAGGAACCCGTATGTTTTTA 0.408000 71 887 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183713474 183713474 + Silent SNP C C T TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr4:183713474C>T ENST00000511685.1 + 26 5772 c.5649C>T c.(5647-5649)taC>taT p.Y1883Y TENM3_ENST00000406950.2_Silent_p.Y1883Y teneurin transmembrane protein 3 TCTTCGAATACGATATGTGGG 0.498000 26 378 0 0 1 0 0 LRFN2 57497 broad.mit.edu 37 6 40399611 40399611 + Silent SNP G G A TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr6:40399611G>A ENST00000338305.6 - 2 1784 c.1242C>T c.(1240-1242)ggC>ggT p.G414G NM_020737.1 NP_065788.1 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III domain containing 2 414 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) GAGGCTCTCCGCCCCCACTGC 0.652000 33 290 0 0 1 0 0 MYO10 4651 broad.mit.edu 37 5 16694499 16694499 + Missense_Mutation SNP C C T TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr5:16694499C>T ENST00000513610.1 - 27 4235 c.3781G>A c.(3781-3783)Gta>Ata p.V1261I MYO10_ENST00000274203.9_Missense_Mutation_p.V618I|MYO10_ENST00000505695.1_Missense_Mutation_p.V600I|MYO10_ENST00000427430.2_Missense_Mutation_p.V618I|MYO10_ENST00000515803.1_Missense_Mutation_p.V600I NM_012334.2 NP_036466.2 Q9HD67 MYO10_HUMAN myosin X 1261 PH 1. axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 86 CGCACTTCTACGGTGCCCTTG 0.537000 56 782 0 0 1 0 0 PADI3 51702 broad.mit.edu 37 1 17609365 17609365 + Missense_Mutation SNP C C A rs147308107 TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr1:17609365C>A ENST00000375460.3 + 16 1826 c.1786C>A c.(1786-1788)Cac>Aac p.H596N NM_016233.2 NP_057317.2 Q9ULW8 PADI3_HUMAN peptidyl arginine deiminase, type III 596 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) GCTGGGGAAGCACCTGGGCAT 0.627000 7 82 0.00198382 0.00201299 1 1 0 LINC00303 0 broad.mit.edu 37 1 204006451 204006451 + RNA SNP G G A rs41264275 by1000genomes TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr1:204006451G>A ENST00000367207.3 - 0 569 GGGGGTATGGGCAAAGGAGTG 0.522000 4 68 0 0 1 0 0 HOXD13 3239 broad.mit.edu 37 2 176959381 176959381 + Nonsense_Mutation SNP C C T TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr2:176959381C>T ENST00000392539.3 + 2 955 c.955C>T c.(955-957)Caa>Taa p.Q319* NM_000523.3 NP_000514.2 P35453 HXD13_HUMAN homeobox D13 319 skeletal system development|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3) 6 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678) ATCTGAGAGACAAGTGACCAT 0.463000 T NUP98 AML* 17 328 0 0 1 0 0 PTPRU 10076 broad.mit.edu 37 1 29630479 29630479 + Silent SNP G G A rs145675393 TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr1:29630479G>A ENST00000373779.3 + 16 2718 c.2589G>A c.(2587-2589)gcG>gcA p.A863A PTPRU_ENST00000345512.3_Silent_p.A873A|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000356870.3_Silent_p.A863A|PTPRU_ENST00000460170.2_Silent_p.A863A|PTPRU_ENST00000323874.8_Silent_p.A863A|PTPRU_ENST00000428026.2_Silent_p.A863A NM_001195001.1|NM_133178.3 NP_001181930.1|NP_573439.2 Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U 873 Mediates interaction with CTNNB1 (By similarity). canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 79 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) TGCACCCTGCGGTGCGTGTCG 0.687000 8 322 0 0 1 0 0 EFTUD2 9343 broad.mit.edu 37 17 42961062 42961062 + Missense_Mutation SNP C C G TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr17:42961062C>G ENST00000426333.2 - 5 678 c.381G>C c.(379-381)gaG>gaC p.E127D EFTUD2_ENST00000592576.1_Missense_Mutation_p.E127D|EFTUD2_ENST00000591382.1_Missense_Mutation_p.E127D|EFTUD2_ENST00000402521.3_Missense_Mutation_p.E92D NM_001142605.1|NM_001258354.1|NM_004247.3 NP_001136077.1|NP_001245283.1|NP_004238.3 Q15029 U5S1_HUMAN elongation factor Tu GTP binding domain containing 2 127 Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck GTP binding|GTPase activity|protein binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 32 Prostate(33;0.109) TTCTGATGAGCTCTGAGTTAT 0.438000 30 331 0 0 1 0 0 HEATR5A 25938 broad.mit.edu 37 14 31785103 31785103 + Missense_Mutation SNP C C T TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr14:31785103C>T ENST00000543095.2 - 27 4275 c.4091G>A c.(4090-4092)cGa>cAa p.R1364Q HEATR5A_ENST00000439348.1_Missense_Mutation_p.R1358Q|HEATR5A_ENST00000389961.3_Missense_Mutation_p.R1358Q|HEATR5A_ENST00000439727.1_Missense_Mutation_p.R1071Q NM_015473.3 NP_056288.2 Q86XA9 HTR5A_HUMAN HEAT repeat containing 5A 1358 binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1) 26 Hepatocellular(127;0.0877)|Breast(36;0.137) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0059) ATGAACTCTTCGGAGATCATT 0.343000 4 63 0 0 1 0 0 FBXO47 494188 broad.mit.edu 37 17 37119246 37119246 + Missense_Mutation SNP C C G rs140430888 byFrequency TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr17:37119246C>G ENST00000378079.2 - 2 232 c.33G>C c.(31-33)ttG>ttC p.L11F NM_001008777.2 NP_001008777.2 Q5MNV8 FBX47_HUMAN F-box protein 47 11 NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1) 20 GGTTGGGAATCAAAGTGAAAT 0.363000 143 624 0 0 1 0 0 ITIH6 347365 broad.mit.edu 37 X 54784236 54784236 + Silent SNP C C T TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chrX:54784236C>T ENST00000218436.6 - 8 2300 c.2271G>A c.(2269-2271)agG>agA p.R757R NM_198510.2 NP_940912.1 Q6UXX5 ITH5L_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 6 757 Pro-rich. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity GGACTTGTGTCCTGGAGTTCG 0.512000 23 565 0 0 1 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39262047 39262047 + Missense_Mutation SNP A A G TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr17:39262047A>G ENST00000391415.1 + 1 464 c.407A>G c.(406-408)aAg>aGg p.K136R NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 136 29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP]. keratin filament central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 agctgctgcaagccccagtgc 0.652000 7 251 0 0 1 0 0 NTRK1 4914 broad.mit.edu 37 1 156849848 156849848 + Missense_Mutation SNP C C T TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr1:156849848C>T ENST00000368196.3 + 15 2206 c.2086C>T c.(2086-2088)Cgt>Tgt p.R696C NTRK1_ENST00000358660.3_Missense_Mutation_p.R699C|NTRK1_ENST00000524377.1_Missense_Mutation_p.R702C|NTRK1_ENST00000392302.2_Missense_Mutation_p.R666C|NTRK1_ENST00000531606.1_3'UTR NM_001012331.1 NP_001012331.1 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 702 Protein kinase. activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) CATCCTGTACCGTAAGTTCAC 0.637000 T """TPM3, TPR, TFG""" papillary thyroid TSP Lung(10;0.080) 47 405 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 33962623 33962623 + Missense_Mutation SNP T T G TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr15:33962623T>G ENST00000389232.4 + 38 5796 c.5726T>G c.(5725-5727)gTt>gGt p.V1909G RYR3_ENST00000415757.3_Missense_Mutation_p.V1909G NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 1909 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.V1909G(1) NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TTGCTAGGGGTTCCTTTggaa 0.473000 20 85 0 0 1 0 0 YJEFN3 374887 broad.mit.edu 37 19 19640211 19640211 + Missense_Mutation SNP G G A TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr19:19640211G>A ENST00000514277.3 + 2 133 c.98G>A c.(97-99)aGa>aAa p.R33K YJEFN3_ENST00000436027.4_Intron|CTC-260F20.3_ENST00000586674.1_3'UTR|CTC-260F20.3_ENST00000555938.1_Intron NM_198537.3 NP_940939.2 A6XGL0 YJEN3_HUMAN YjeF N-terminal domain containing 3 33 NS(1)|breast(1)|lung(3) 5 GACATGGGAAGAGCGGAGCTT 0.632000 14 173 0 0 1 0 0 PTPRU 10076 broad.mit.edu 37 1 29630460 29630460 + Missense_Mutation SNP C C T rs146215972 TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr1:29630460C>T ENST00000373779.3 + 16 2699 c.2570C>T c.(2569-2571)aCg>aTg p.T857M PTPRU_ENST00000345512.3_Missense_Mutation_p.T867M|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000356870.3_Missense_Mutation_p.T857M|PTPRU_ENST00000460170.2_Missense_Mutation_p.T857M|PTPRU_ENST00000323874.8_Missense_Mutation_p.T857M|PTPRU_ENST00000428026.2_Missense_Mutation_p.T857M NM_001195001.1|NM_133178.3 NP_001181930.1|NP_573439.2 Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U 867 Mediates interaction with CTNNB1 (By similarity). canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 79 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) CCATACCACACGGGGCAGCTG 0.662000 8 308 0 0 1 0 0 TSSC2 0 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 10 242 0 0 1 0 0 CCR4 1233 broad.mit.edu 37 3 32995416 32995416 + Missense_Mutation SNP G G A TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr3:32995416G>A ENST00000330953.5 + 2 670 c.502G>A c.(502-504)Gcc>Acc p.A168T NM_005508.4 NP_005499.1 P51679 CCR4_HUMAN chemokine (C-C motif) receptor 4 168 chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response integral to plasma membrane NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1) 16 GGCTGTGTTCGCCTCCCTTCC 0.502000 10 467 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9090831 9090831 + Silent SNP A A G TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr19:9090831A>G ENST00000397910.4 - 1 1187 c.984T>C c.(982-984)ccT>ccC p.P328P NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 328 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCATGGAAAAAGGGATAGCTG 0.522000 7 433 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56466153 56466153 + Missense_Mutation SNP C C A TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr19:56466153C>A ENST00000291971.3 + 3 800 c.729C>A c.(727-729)ttC>ttA p.F243L NLRP8_ENST00000590542.1_Missense_Mutation_p.F243L NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 243 NACHT. cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) CTTTCTACTTCCATTGCCAAG 0.507000 119 617 1.24098e-62 1.34847e-62 1 1 0 TP53 7157 broad.mit.edu 37 17 7577547 7577547 + Missense_Mutation SNP C C A rs121912656 TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr17:7577547C>A ENST00000420246.2 - 7 866 c.734G>T c.(733-735)gGc>gTc p.G245V TP53_ENST00000455263.2_Missense_Mutation_p.G245V|TP53_ENST00000445888.2_Missense_Mutation_p.G245V|TP53_ENST00000413465.2_Missense_Mutation_p.G245V|TP53_ENST00000359597.4_Missense_Mutation_p.G245V|TP53_ENST00000269305.4_Missense_Mutation_p.G245V NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 245 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and 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.G245D(104)|p.G245V(66)|p.G245A(8)|p.0?(8)|p.?(5)|p.G152V(4)|p.G244_M246>V(3)|p.G152D(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*2(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.C238_M246delCNSSCMGGM(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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) CCGGTTCATGCCGCCCATGCA 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) 32 278 4.65686e-17 4.98176e-17 1 1 0 AMOT 154796 broad.mit.edu 37 X 112058796 112058796 + Silent SNP C C T TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chrX:112058796C>T ENST00000371959.3 - 2 1181 c.1182G>A c.(1180-1182)caG>caA p.Q394Q AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000371958.1_Silent_p.Q162Q|AMOT_ENST00000524145.1_Silent_p.Q394Q|AMOT_ENST00000371962.1_Silent_p.Q162Q NM_001113490.1 NP_001106962.1 Q4VCS5 AMOT_HUMAN angiomotin 394 actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction angiostatin binding|protein binding|receptor activity p.Q394Q(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 43 gctgctgctgctgttgttggt 0.582000 6 202 0 0 1 0 0 CEL 1056 broad.mit.edu 37 9 135946986 135946986 + Silent SNP G G C TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr9:135946986G>C ENST00000372080.4 + 11 2122 c.2106G>C c.(2104-2106)ggG>ggC p.G702G CEL_ENST00000351304.7_Silent_p.G633G NM_001807.3 NP_001798.2 P19835 CEL_HUMAN carboxyl ester lipase 699 17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type). cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification cytosol|extracellular space acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196) GTGACTCCGGGGCCCCCCCCG 0.826000 3 24 0 0 1 0 0 LRRK1 79705 broad.mit.edu 37 15 101593294 101593294 + Splice_Site SNP G G T TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr15:101593294G>T ENST00000284395.5 + 26 4247 c.e26+1 RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000388948.3_Splice_Site Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) GTACCGGCAGGTAAGCGGGTC 0.582000 16 166 1.5739e-10 1.63307e-10 1 1 0 TRIM7 81786 broad.mit.edu 37 5 180622634 180622634 + Silent SNP G G T TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr5:180622634G>T ENST00000393315.1 - 7 1141 c.444C>A c.(442-444)atC>atA p.I148I TRIM7_ENST00000504241.1_5'UTR|CTC-338M12.6_ENST00000512508.1_RNA|TRIM7_ENST00000393319.3_Silent_p.I174I|TRIM7_ENST00000361809.3_Silent_p.I148I|TRIM7_ENST00000274773.7_Silent_p.I356I|TRIM7_ENST00000422067.2_Silent_p.I148I NM_203296.1 NP_976041.1 Q9C029 TRIM7_HUMAN tripartite motif containing 7 356 cytoplasm|nucleus zinc ion binding NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1) 17 all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802) CCAGAGAGAGGATGAGGCGCG 0.662000 13 427 4.14922e-12 4.33782e-12 1 1 0 TRH 7200 broad.mit.edu 37 3 129695840 129695840 + Silent SNP G G A TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr3:129695840G>A ENST00000302649.3 + 3 1037 c.510G>A c.(508-510)gaG>gaA p.E170E TRH_ENST00000507066.1_Silent_p.E166E NM_007117.3 NP_009048.1 P20396 TRH_HUMAN thyrotropin-releasing hormone 170 cell-cell signaling|hormone-mediated signaling pathway extracellular region|soluble fraction neuropeptide hormone activity|thyrotropin-releasing hormone activity p.E170E(1) NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1) 14 Gggaagaagaggaggaggagg 0.642000 6 245 0 0 1 0 0 WWC1 23286 broad.mit.edu 37 5 167881063 167881063 + Silent SNP C C T TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr5:167881063C>T ENST00000265293.4 + 18 3118 c.2616C>T c.(2614-2616)acC>acT p.T872T WWC1_ENST00000522140.1_3'UTR|WWC1_ENST00000521089.1_Silent_p.T872T NM_001161661.1|NM_001161662.1|NM_015238.2 NP_001155133.1|NP_001155134.1|NP_056053.1 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 872 Glu-rich.|Interaction with histone H3. cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4) 43 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) aTGTTTTCACCGAGAAAGCCT 0.542000 33 742 0 0 1 0 0 USP15 9958 broad.mit.edu 37 12 62715327 62715327 + Silent SNP C C T TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr12:62715327C>T ENST00000280377.5 + 5 616 c.558C>T c.(556-558)aaC>aaT p.N186N USP15_ENST00000393654.3_Silent_p.N186N|USP15_ENST00000550632.1_3'UTR|USP15_ENST00000353364.3_Silent_p.N186N|USP15_ENST00000312635.6_Silent_p.N186N NM_001252078.1 NP_001239007.1 Q9Y4E8 UBP15_HUMAN ubiquitin specific peptidase 15 186 protein deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 37 GBM - Glioblastoma multiforme(1;0.000276) GBM - Glioblastoma multiforme(28;0.0622) ACATGAGTAACACATTTGAAC 0.333000 27 227 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29633900 29633900 + Missense_Mutation SNP A A G rs60081496 by1000genomes TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr20:29633900A>G ENST00000278882.3 + 9 919 c.539A>G c.(538-540)gAa>gGa p.E180G FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G p.E180G(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAAACAAGAGAACCAAATTGA 0.264000 11 295 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102292785 102292785 + RNA SNP C C G rs61084368 TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr15:102292785C>G ENST00000561463.1 + 0 831 p.Q125E(1) TGCTGCTTCTCAGAGCTGCTG 0.602000 6 139 0 0 1 0 0 SPACA3 124912 broad.mit.edu 37 17 31322436 31322436 + Missense_Mutation SNP C C T TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr17:31322436C>T ENST00000269053.3 + 2 114 c.44C>T c.(43-45)tCa>tTa p.S15L SPACA3_ENST00000394638.1_Intron|SPACA3_ENST00000580599.1_5'UTR|SPACA3_ENST00000394637.2_3'UTR NM_173847.3 NP_776246.1 Q8IXA5 SACA3_HUMAN sperm acrosome associated 3 15 cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus acrosomal membrane|extracellular region|integral to membrane|lysosome bacterial cell surface binding|lysozyme activity|protein binding breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(9;0.193) GGGGTGCACTCAAGCCCTGTT 0.607000 26 422 0 0 1 0 0 GAD2 2572 broad.mit.edu 37 10 26508064 26508064 + Missense_Mutation SNP G G A TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr10:26508064G>A ENST00000376261.3 + 4 882 c.379G>A c.(379-381)Gat>Aat p.D127N GAD2_ENST00000259271.3_Missense_Mutation_p.D127N|GAD2_ENST00000376248.1_Missense_Mutation_p.D13N NM_001134366.1 NP_001127838.1 Q05329 DCE2_HUMAN glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) 127 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 L-Glutamic Acid(DB00142) GAAAAGTTTCGATAGATCAAC 0.393000 11 533 0 0 1 0 0 FLNA 0 broad.mit.edu 37 X 153581753 153581753 + Missense_Mutation SNP G G T TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chrX:153581753G>T ENST00000422373.1 - 36 6157 c.5909C>A c.(5908-5910)aCg>aAg p.T1970K FLNA_ENST00000344736.4_Missense_Mutation_p.T1938K|FLNA_ENST00000360319.4_Missense_Mutation_p.T1970K|FLNA_ENST00000369856.3_Missense_Mutation_p.T111K|FLNA_ENST00000369850.3_Missense_Mutation_p.T1978K NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 1978 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GCTGAGATCCGTCTCTGAGAT 0.632000 31 447 8.16721e-17 8.66981e-17 1 1 0 PTPN14 5784 broad.mit.edu 37 1 214556939 214556939 + Silent SNP G G A TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr1:214556939G>A ENST00000366956.5 - 13 2453 c.2259C>T c.(2257-2259)ccC>ccT p.P753P PTPN14_ENST00000543945.1_3'UTR NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 753 lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) TCCTTGGACCGGGGTACTCAG 0.672000 10 343 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr16:90162513T>C ENST00000564451.1 + 0 1866 TUBB8P7_ENST00000567960.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 12 626 0 0 1 0 0 POM121L9P 0 broad.mit.edu 37 22 24659578 24659578 + RNA SNP A A G TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr22:24659578A>G ENST00000414583.2 + 0 3103 NR_003714.1 TGCGCAGGCCAACACTCACTG 0.617000 6 146 0 0 1 0 0 RP1-37N7.4 0 broad.mit.edu 37 17 18343437 18343437 + RNA SNP G G A TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr17:18343437G>A ENST00000580052.1 + 0 43 KRT16P1_ENST00000581027.1_RNA CAGCACCTACGGGGGGGCCTG 0.692000 5 16 0 0 1 0 0 XYLT1 64131 broad.mit.edu 37 16 17211716 17211716 + Missense_Mutation SNP C C T TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr16:17211716C>T ENST00000261381.6 - 11 2428 c.2344G>A c.(2344-2346)Gtc>Atc p.V782I NM_022166.3 NP_071449.1 Q86Y38 XYLT1_HUMAN xylosyltransferase I 782 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 ACCCAAATGACGGTCACGGTC 0.557000 37 379 0 0 1 0 0 DSCAML1 57453 broad.mit.edu 37 11 117387200 117387200 + Missense_Mutation SNP C C T TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr11:117387200C>T ENST00000321322.6 - 8 1946 c.1945G>A c.(1945-1947)Gtt>Att p.V649I DSCAML1_ENST00000527706.1_Missense_Mutation_p.V379I NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 589 Ig-like C2-type 7. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) GCTACGTGAACGCTCTGGCTG 0.632000 15 301 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14513764 14513764 + Missense_Mutation SNP C C T TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr18:14513764C>T ENST00000358970.5 - 10 1429 c.1430G>A c.(1429-1431)cGg>cAg p.R477Q NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 477 p.R477Q(12) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 AAGTTGTTTCCGGGTATCATT 0.358000 8 311 0 0 1 0 0 GPR179 440435 broad.mit.edu 37 17 36486065 36486065 + Silent SNP C C T TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr17:36486065C>T ENST00000342292.4 - 11 3407 c.3387G>A c.(3385-3387)tcG>tcA p.S1129S NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 1129 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) CTAGCCTGGGCGATCGGGAGG 0.627000 14 564 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152763321 152763321 + Silent SNP C C T TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr6:152763321C>T ENST00000367255.5 - 31 4498 c.3897G>A c.(3895-3897)gcG>gcA p.A1299A SYNE1_ENST00000367253.4_Silent_p.A1299A|SYNE1_ENST00000265368.4_Silent_p.A1299A|SYNE1_ENST00000448038.1_Silent_p.A1306A|SYNE1_ENST00000367248.3_Silent_p.A1289A|SYNE1_ENST00000423061.1_Silent_p.A1306A|SYNE1_ENST00000341594.5_Silent_p.A1365A|SYNE1_ENST00000413186.2_Silent_p.A1299A NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1299 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding p.A1299A(2)|p.A1306A(1) NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTCCCTGCTGCGCCTGCGCGA 0.567000 HNSCC(10;0.0054) 23 347 0 0 1 0 0 MICAL2 9645 broad.mit.edu 37 11 12278458 12278458 + Missense_Mutation SNP C C T TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr11:12278458C>T ENST00000256194.4 + 24 3370 c.3082C>T c.(3082-3084)Cgc>Tgc p.R1028C MICAL2_ENST00000537344.1_Missense_Mutation_p.R838C|MICAL2_ENST00000342902.5_Missense_Mutation_p.R1007C|MICAL2_ENST00000527546.1_Missense_Mutation_p.R838C|MICAL2_ENST00000379612.3_Missense_Mutation_p.R802C NM_014632.2 NP_055447.1 O94851 MICA2_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 2 1028 LIM zinc-binding. cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 47 Epithelial(150;0.00552) GGAGTGTTTCCGCTGCAGCAT 0.607000 29 305 0 0 1 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20903757 20903757 + Silent SNP T T C rs10841611 by1000genomes TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr12:20903757T>C ENST00000381552.1 + 14 2315 c.1947T>C c.(1945-1947)caT>caC p.H649H SLCO1C1_ENST00000545604.1_Silent_p.H649H|SLCO1C1_ENST00000545102.1_Silent_p.H531H|SLCO1C1_ENST00000540354.1_Intron|SLCO1C1_ENST00000266509.2_Intron Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, member 1C1 0 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity p.H649H(1) NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 60 Esophageal squamous(101;0.149) CCGCATCTCATTGCTACAGCA 0.378000 11 381 0 0 1 0 0 RRN3P3 0 broad.mit.edu 37 16 22448704 22448704 + RNA SNP G G A TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr16:22448704G>A ENST00000551766.1 - 0 332 NR_027460.1 GCTTGGCCATGTCGTGTCGGG 0.716000 5 24 0 0 1 0 0 POLR3B 55703 broad.mit.edu 37 12 106820975 106820975 + Splice_Site SNP C C T TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr12:106820975C>T ENST00000228347.4 + 13 1324 c.1101_splice c.e13-1 p.L368_splice POLR3B_ENST00000549195.1_3'UTR|POLR3B_ENST00000539066.1_Splice_Site_p.L310_splice NM_018082.5 NP_060552.4 Q9NW08 RPC2_HUMAN polymerase (RNA) III (DNA directed) polypeptide B 368 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding p.L368F(4) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2) 57 TTTTTTTTAGCTTTTATCTCT 0.274000 7 48 0 0 1 0 0 THAP7-AS1 0 broad.mit.edu 37 22 21363434 21363434 + RNA SNP C C T TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr22:21363434C>T ENST00000452284.1 + 0 1101 THAP7-AS1_ENST00000436079.1_RNA|TUBA3FP_ENST00000422086.1_RNA NR_027051.1 TCTGCCCAGACGACTGAGGTT 0.527000 8 416 0 0 1 0 0 ITGA3 3675 broad.mit.edu 37 17 48151552 48151552 + Silent SNP C C T rs78768954 byFrequency TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr17:48151552C>T ENST00000320031.8 + 9 1620 c.1290C>T c.(1288-1290)ttC>ttT p.F430F ITGA3_ENST00000007722.7_Silent_p.F430F|ITGA3_ENST00000544892.1_Silent_p.F205F NM_002204.2|NM_005501.2 NP_002195.1|NP_005492.1 P26006 ITA3_HUMAN integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) 430 blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration cell surface|integrin complex protein binding|receptor activity endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2) 31 TGGCCACCTTCGGCTATTCCC 0.612000 18 935 0 0 1 0 0 LRRC37A16P 0 broad.mit.edu 37 17 66126552 66126552 + RNA SNP G G A rs74196682 by1000genomes TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr17:66126552G>A ENST00000590019.1 - 0 298 CACAGGGCTGGGCAGAAAGGT 0.488000 6 155 0 0 1 0 0 CACNA1G 8913 broad.mit.edu 37 17 48678109 48678109 + Missense_Mutation SNP C C T TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr17:48678109C>T ENST00000352832.5 + 17 4016 c.3644C>T c.(3643-3645)gCg>gTg p.A1215V CACNA1G_ENST00000514181.1_Missense_Mutation_p.A1238V|CACNA1G_ENST00000429973.2_Missense_Mutation_p.A1238V|CACNA1G_ENST00000513689.2_Missense_Mutation_p.A1238V|CACNA1G_ENST00000505165.1_Missense_Mutation_p.A1238V|CACNA1G_ENST00000512389.1_Missense_Mutation_p.A1238V|CACNA1G_ENST00000510366.1_Missense_Mutation_p.A1238V|CACNA1G_ENST00000359106.5_Missense_Mutation_p.A1238V|CACNA1G_ENST00000502264.1_Missense_Mutation_p.A1215V|CACNA1G_ENST00000515765.1_Missense_Mutation_p.A1238V|CACNA1G_ENST00000503485.1_Missense_Mutation_p.A1238V|CACNA1G_ENST00000515411.1_Missense_Mutation_p.A1238V|CACNA1G_ENST00000515165.1_Missense_Mutation_p.A1238V|CACNA1G_ENST00000442258.2_Missense_Mutation_p.A1215V|CACNA1G_ENST00000507896.1_Missense_Mutation_p.A1238V|CACNA1G_ENST00000416767.4_Missense_Mutation_p.A1238V|CACNA1G_ENST00000507510.2_Missense_Mutation_p.A1238V|CACNA1G_ENST00000507336.1_Missense_Mutation_p.A1238V|CACNA1G_ENST00000513964.1_Missense_Mutation_p.A1238V|CACNA1G_ENST00000514717.1_Missense_Mutation_p.A1215V|CACNA1G_ENST00000358244.5_Missense_Mutation_p.A1215V|CACNA1G_ENST00000354983.4_Missense_Mutation_p.A1215V|CACNA1G_ENST00000507609.1_Missense_Mutation_p.A1238V|CACNA1G_ENST00000510115.1_Missense_Mutation_p.A1215V|CACNA1G_ENST00000514079.1_Missense_Mutation_p.A1238V|CACNA1G_ENST00000360761.4_Missense_Mutation_p.A1215V NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 1238 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) CGGGTCCGCGCGTGGATCCGA 0.627000 16 526 0 0 1 0 0 NADK 65220 broad.mit.edu 37 1 1688592 1688594 + In_Frame_Del DEL AGG AGG - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr1:1688592_1688594delAGG ENST00000344463.4 - 6 952_954 c.731_733delCCT c.(730-735)ggg>g p.AW244del NADK_ENST00000378625.1_In_Frame_Del_p.AW244del|NADK_ENST00000492768.1_Intron|NADK_ENST00000341426.5_Intron|NADK_ENST00000342348.5_Intron|NADK_ENST00000341991.3_Intron O95544 NADK_HUMAN NAD kinase 131 ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process cytosol ATP binding|metal ion binding|NAD+ kinase activity|protein binding NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1) 17 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207) TGTGCACCCCAGGCCCCCTTCCC 0.626 16 142 --- --- --- --- AJAP1 55966 broad.mit.edu 37 1 4772583 4772585 + In_Frame_Del DEL CCA CCA - rs141981296 byFrequency TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr1:4772583_4772585delCCA ENST00000378191.4 + 2 1034_1036 c.653_655delCCA c.(652-657)gcc>g p.AT218del AJAP1_ENST00000378190.3_In_Frame_Del_p.AT218del NM_018836.3 NP_061324.1 Q9UKB5 AJAP1_HUMAN adherens junctions associated protein 1 218 Thr-rich. cell adhesion adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane p.T225_A226insT(1) endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1) 24 all_cancers(77;0.071)|Ovarian(185;0.0721) all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215) Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689) ACTGTGGccgccaccaccaccac 0.635 10 127 --- --- --- --- PLEKHG5 57449 broad.mit.edu 37 1 6536011 6536013 + In_Frame_Del DEL CTC CTC - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr1:6536011_6536013delCTC ENST00000377748.1 - 4 855_857 c.358_360delGAG c.(358-360)del p.E120del PLEKHG5_ENST00000377728.3_In_Frame_Del_p.E43del|PLEKHG5_ENST00000400913.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377725.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000544978.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000537245.1_In_Frame_Del_p.E122del|PLEKHG5_ENST00000340850.5_In_Frame_Del_p.E43del|PLEKHG5_ENST00000400915.3_In_Frame_Del_p.E99del|PLEKHG5_ENST00000377740.3_In_Frame_Del_p.E120del|PLEKHG5_ENST00000535355.1_In_Frame_Del_p.E112del|PLEKHG5_ENST00000377732.1_In_Frame_Del_p.E80del|PLEKHG5_ENST00000377737.2_In_Frame_Del_p.E43del NM_198681.3 NP_941374.2 O94827 PKHG5_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 5 99 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm Rho guanyl-nucleotide exchange factor activity|signal transducer activity liver(1) 1 Ovarian(185;0.02)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419) CCACAGAGCTCTCCTCCTCCTCC 0.631 OREG0013041 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 511 --- --- --- --- TAS1R1 0 broad.mit.edu 37 1 6638843 6638845 + In_Frame_Del DEL GCT GCT - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr1:6638843_6638845delGCT ENST00000333172.6 + 6 1918_1920 c.1725_1727delGCT c.(1723-1728)acg>ac p.TL575del TAS1R1_ENST00000351136.3_In_Frame_Del_p.TL321del|TAS1R1_ENST00000328191.4_In_Frame_Del_p.RC464del NM_138697.3 NP_619642.2 Q7RTX1 TS1R1_HUMAN taste receptor, type 1, member 1 575 sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2) 29 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) CAGCTAACACgctgctgctgctg 0.611 7 221 --- --- --- --- PHF13 148479 broad.mit.edu 37 1 6680069 6680071 + In_Frame_Del DEL GAA GAA - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr1:6680069_6680071delGAA ENST00000377648.4 + 3 730_732 c.348_350delGAA c.(346-351)ctg>ct p.LK116del PHF13_ENST00000495385.1_Intron NM_153812.2 NP_722519.2 Q86YI8 PHF13_HUMAN PHD finger protein 13 116 cell division|chromatin modification|mitotic chromosome condensation nucleoplasm chromatin binding|methylated histone residue binding|zinc ion binding endometrium(3)|large_intestine(1)|lung(3) 7 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642) cggacaagctgaagaagaagaag 0.576 13 332 --- --- --- --- DNAJC11 55735 broad.mit.edu 37 1 6727803 6727804 + Frame_Shift_Del DEL TC TC - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr1:6727803_6727804delTC ENST00000377577.5 - 4 466_467 c.343_344delGA c.(343-345)afs p.E116fs DNAJC11_ENST00000349363.6_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000294401.7_Frame_Shift_Del_p.E116fs|DNAJC11_ENST00000542246.1_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000377573.5_Frame_Shift_Del_p.E26fs NM_018198.3 NP_060668.2 Q9NVH1 DJC11_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 11 116 protein folding heat shock protein binding|unfolded protein binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1) 32 Ovarian(185;0.0265)|all_lung(157;0.154) all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649) TCTCCTCTCTTCTCTCTCTCTC 0.505 24 294 --- --- --- --- VAMP3 9341 broad.mit.edu 37 1 7838212 7838214 + In_Frame_Del DEL TCA TCA - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr1:7838212_7838214delTCA ENST00000054666.6 + 4 381_383 c.266_268delTCA c.(265-270)ttc>t p.FI89del VAMP3_ENST00000470357.1_In_Frame_Del_p.FI61del NM_004781.3 NP_004772.1 Q15836 VAMP3_HUMAN vesicle-associated membrane protein 3 89 cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3) 6 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642) CTGGTTATCTTCATCATCATCAT 0.365 9 1208 --- --- --- --- TNFRSF9 3604 broad.mit.edu 37 1 7980912 7980914 + In_Frame_Del DEL CTT CTT - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr1:7980912_7980914delCTT ENST00000377507.3 - 8 915_917 c.749_751delAAG c.(748-753)gga>g p.EG250del NM_001561.5 NP_001552.2 Q07011 TNR9_HUMAN tumor necrosis factor receptor superfamily, member 9 250 Interaction with LRR-1. E -> G (in a colorectal cancer sample; somatic mutation). induction of apoptosis|negative regulation of cell proliferation integral to plasma membrane binding|receptor activity p.E250G(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 Ovarian(185;0.0634)|all_lung(157;0.151) all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649) TCACATCCTCCTTCTTCTTCTTC 0.379 13 784 --- --- --- --- CLSTN1 22883 broad.mit.edu 37 1 9790640 9790642 + In_Frame_Del DEL CCT CCT - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr1:9790640_9790642delCCT ENST00000377298.4 - 19 3662_3664 c.2870_2872delAGG c.(2869-2874)ggg>g p.EG957del CLSTN1_ENST00000477264.1_5'UTR|CLSTN1_ENST00000361311.4_In_Frame_Del_p.EG947del|CLSTN1_ENST00000377288.3_In_Frame_Del_p.EG938del NM_001009566.1 NP_001009566.1 O94985 CSTN1_HUMAN calsyntenin 1 957 Glu-rich (highly acidic). homophilic cell adhesion cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane calcium ion binding breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 36 all_lung(157;0.222) all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419) CCCTGCTCCCCCTCCTCCTCCTC 0.645 11 422 --- --- --- --- ESPNP 0 broad.mit.edu 37 1 17034125 17034126 + RNA INS - - AGCT rs141324796 by1000genomes TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr1:17034125_17034126insAGCT ENST00000492551.1 - 0 477_478 NR_026567.1 CAGCAGCAGCCAGCTGAGCACC 0.718 7 33 --- --- --- --- USP48 84196 broad.mit.edu 37 1 22083040 22083040 + Splice_Site DEL T T - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr1:22083040delT ENST00000308271.9 - 3 1059 c.412_splice c.e3+1 p.K137_splice USP48_ENST00000400301.1_Splice_Site_p.K137_splice|USP48_ENST00000529637.1_Splice_Site_p.K137_splice|USP48_ENST00000421625.2_Splice_Site_p.K137_splice NM_032236.5 NP_115612.4 Q86UV5 UBP48_HUMAN ubiquitin specific peptidase 48 137 ubiquitin-dependent protein catabolic process mitochondrion|nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753) TCCACCCACCTTTTTCTTCTT 0.438 7 1367 --- --- --- --- UBXN11 91544 broad.mit.edu 37 1 26608843 26608844 + In_Frame_Ins INS - - GGGACA rs6667693 by1000genomes TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr1:26608843_26608844insGGGACA ENST00000314675.7 - 11 1228_1229 c.1149_1150insTGTCCC c.(1147-1152)ccgtcc>ccTGTCCCgtcc p.382_383insPV UBXN11_ENST00000374217.2_In_Frame_Ins_p.469_470insPV|UBXN11_ENST00000357089.4_In_Frame_Ins_p.469_470insPV|UBXN11_ENST00000374222.1_In_Frame_Ins_p.502_503insPV|UBXN11_ENST00000374221.3_In_Frame_Ins_p.502_503insPV|UBXN11_ENST00000374223.1_In_Frame_Ins_p.259_260insPV NM_001077262.1 NP_001070730.1 Q5T124 UBX11_HUMAN UBX domain protein 11 502 cytoplasm|cytoskeleton p.P503_G504insCP(1)|p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(1) endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3) 23 ggaccgggaccgggactggggc 0.733 8 134 --- --- --- --- MACF1 23499 broad.mit.edu 37 1 39788668 39788670 + In_Frame_Del DEL GGA GGA - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr1:39788668_39788670delGGA ENST00000564288.1 + 33 5001_5003 c.4224_4226delGGA c.(4222-4227)ctg>ct p.LE1408del MACF1_ENST00000361689.2_In_Frame_Del_p.LE1413del|MACF1_ENST00000317713.7_In_Frame_Del_p.LE1413del|MACF1_ENST00000539005.1_In_Frame_Del_p.LE1413del|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000545844.1_In_Frame_Del_p.LE1413del|MACF1_ENST00000372915.3_In_Frame_Del_p.LE1413del|MACF1_ENST00000567887.1_In_Frame_Del_p.LE1445del Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 1413 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TCCGGCGTCTGGAGGAGGAGGAG 0.493 8 644 --- --- --- --- B4GALT2 8704 broad.mit.edu 37 1 44447007 44447009 + In_Frame_Del DEL AGC AGC - rs72406230 TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr1:44447007_44447009delAGC ENST00000356836.6 + 2 965_967 c.175_177delAGC c.(175-177)del p.S65del B4GALT2_ENST00000309519.7_In_Frame_Del_p.S94del|B4GALT2_ENST00000372324.1_In_Frame_Del_p.S65del|B4GALT2_ENST00000434555.2_In_Frame_Del_p.LA7del NM_001005417.2|NM_030587.2 NP_001005417.1|NP_085076.2 O60909 B4GT2_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2 65 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) N-Acetyl-D-glucosamine(DB00141) CCCAGCTGCTagcagcagcagca 0.685 8 339 --- --- --- --- ROR1 4919 broad.mit.edu 37 1 64608186 64608187 + Frame_Shift_Del DEL CA CA - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr1:64608186_64608187delCA ENST00000371079.1 + 7 1402_1403 c.1027_1028delCA c.(1027-1029)cfs p.H343fs ROR1_ENST00000545203.1_5'UTR|RP11-24J23.2_ENST00000424995.1_RNA|ROR1_ENST00000371080.1_Frame_Shift_Del_p.H343fs NM_005012.3 NP_005003.2 Q01973 ROR1_HUMAN receptor tyrosine kinase-like orphan receptor 1 343 Kringle. transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 51 CCAGTATCCCCACACACACACT 0.554 10 591 --- --- --- --- COL11A1 1301 broad.mit.edu 37 1 103355065 103355065 + Frame_Shift_Del DEL T T - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr1:103355065delT ENST00000358392.2 - 59 4763 c.4446delA c.(4444-4446)aafs p.K1482fs COL11A1_ENST00000512756.1_Frame_Shift_Del_p.K1354fs|COL11A1_ENST00000370096.3_Frame_Shift_Del_p.K1470fs|COL11A1_ENST00000353414.4_Frame_Shift_Del_p.K1431fs NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1470 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CTCGGTCACCTTTTTCCCCTT 0.408 7 626 --- --- --- --- SYCP1 6847 broad.mit.edu 37 1 115469134 115469134 + Frame_Shift_Del DEL A A - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr1:115469134delA ENST00000369522.3 + 23 2116 c.1876delA c.(1876-1878)aafs p.K628fs SYCP1_ENST00000369518.1_Frame_Shift_Del_p.K628fs NM_003176.2 NP_003167.2 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 628 cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) 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) TAAGGCCTTGAAAAAAAAAGG 0.264 9 205 --- --- --- --- NBPF10 100132406 broad.mit.edu 37 1 145311123 145311123 + Frame_Shift_Del DEL A A - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr1:145311123delA ENST00000342960.5 + 13 1857 c.1822delA c.(1822-1824)aafs p.K609fs RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.2_Frame_Shift_Del_p.K338fs|NBPF10_ENST00000369338.1_Frame_Shift_Del_p.K338fs NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 609 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) GGATCAAGTGAAAAAGGAGGA 0.448 7 3194 --- --- --- --- POLR3GL 84265 broad.mit.edu 37 1 145457040 145457042 + In_Frame_Del DEL TCT TCT - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr1:145457040_145457042delTCT ENST00000369314.1 - 7 625_627 c.519_521delAGA c.(517-522)gag>ga p.EE173del POLR3GL_ENST00000369313.3_In_Frame_Del_p.EE150del NM_032305.1 NP_115681.1 Q9BT43 RPC7L_HUMAN polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like 173 Glu-rich. endometrium(2)|large_intestine(1)|lung(1) 4 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) ctcttccttctcttcttcttctt 0.448 8 137 --- --- --- --- ADAMTSL4 54507 broad.mit.edu 37 1 150530506 150530506 + Frame_Shift_Del DEL G G - rs149280379 TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr1:150530506delG ENST00000271643.4 + 14 2499 c.2263delG c.(2263-2265)ggfs p.G758fs ADAMTSL4_ENST00000369039.5_Frame_Shift_Del_p.G781fs|ADAMTSL4_ENST00000369038.2_Frame_Shift_Del_p.G758fs|ADAMTSL4_ENST00000369041.5_Frame_Shift_Del_p.G758fs NM_019032.4 NP_061905.2 Q6UY14 ATL4_HUMAN ADAMTS-like 4 758 TSP type-1 2. apoptosis|positive regulation of apoptosis metalloendopeptidase activity|protease binding breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3) 32 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) GCAGGAATTTGGGGGGGGTGG 0.692 12 702 --- --- --- --- HAX1 10456 broad.mit.edu 37 1 154245864 154245866 + In_Frame_Del DEL GAA GAA - rs11556342 TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr1:154245864_154245866delGAA ENST00000328703.7 + 2 319_321 c.106_108delGAA c.(106-108)del p.E40del HAX1_ENST00000457918.2_Intron|HAX1_ENST00000483970.2_In_Frame_Del_p.E40del|HAX1_ENST00000532105.1_Intron NM_006118.3 NP_006109.2 O00165 HAX1_HUMAN HCLS1 associated protein X-1 40 Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity). actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction interleukin-1 binding|protein N-terminus binding cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 15 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TGATGATGAGGAAGAAGAAGAAG 0.522 Kostmann syndrome 8 380 --- --- --- --- KCNN3 3782 broad.mit.edu 37 1 154842200 154842214 + In_Frame_Del DEL GCTGCTGCTGCTGCT GCTGCTGCTGCTGCT - rs58327065 TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr1:154842200_154842214delGCTGCTGCTGCTGCT ENST00000271915.3 - 1 542_556 c.227_241delAGCAGCAGCAGCAGC c.(226-243)cca>c p.QQQQQP76del NM_002249.5 NP_002240.3 Q9UGI6 KCNN3_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 76 Poly-Gln. integral to membrane calmodulin binding p.Q80_P81insQQ(2) cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) GGATGCGGTGgctgctgctgctgctgctgctgctg 0.707 7 41 --- --- --- --- PVRL4 81607 broad.mit.edu 37 1 161044104 161044106 + In_Frame_Del DEL CCA CCA - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr1:161044104_161044106delCCA ENST00000368012.3 - 6 1360_1362 c.1058_1060delTGG c.(1057-1062)ggt>g p.VG353del PVRL4_ENST00000453926.2_In_Frame_Del_p.VG87del NM_030916.2 NP_112178.2 Q96NY8 PVRL4_HUMAN poliovirus receptor-related 4 353 adherens junction organization|cell adhesion|cell junction assembly adherens junction|extracellular region|integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1) 20 all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) GCGATCACACCCACCACCACCAC 0.606 9 567 --- --- --- --- NOS1AP 9722 broad.mit.edu 37 1 162326888 162326890 + In_Frame_Del DEL CAG CAG - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr1:162326888_162326890delCAG ENST00000361897.5 + 8 1303_1305 c.901_903delCAG c.(901-903)del p.Q306del NOS1AP_ENST00000530878.1_In_Frame_Del_p.Q301del NM_001164757.1|NM_014697.2 NP_001158229.1|NP_055512.1 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor protein 306 Poly-Gln. regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 32 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) gcagctcctccagcagcAGCAGC 0.611 7 334 --- --- --- --- IPO9 55705 broad.mit.edu 37 1 201843998 201844000 + In_Frame_Del DEL GAG GAG - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr1:201843998_201844000delGAG ENST00000361565.4 + 22 2941_2943 c.2872_2874delGAG c.(2872-2874)del p.E962del NM_018085.4 NP_060555.2 Q96P70 IPO9_HUMAN importin 9 962 protein import into nucleus cytoplasm|nucleus histone binding|protein transporter activity cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 38 ggaggaggaagaggaggaggagg 0.443 17 637 --- --- --- --- SYT2 127833 broad.mit.edu 37 1 202573647 202573649 + In_Frame_Del DEL TTC TTC - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr1:202573647_202573649delTTC ENST00000367267.1 - 3 471_473 c.279_281delGAA c.(277-282)aac>aa p.KN93del RP11-569A11.1_ENST00000428573.1_RNA|SYT2_ENST00000367268.4_In_Frame_Del_p.KN93del NM_001136504.1 NP_001129976.1 Q8N9I0 SYT2_HUMAN synaptotagmin II 93 neurotransmitter secretion cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane protein binding|transporter activity p.N94S(1) NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(75;0.169) Botulinum Toxin Type B(DB00042) ctccttcttgttcttcttcttct 0.532 10 703 --- --- --- --- PTPN14 5784 broad.mit.edu 37 1 214557049 214557051 + In_Frame_Del DEL CCT CCT - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr1:214557049_214557051delCCT ENST00000366956.5 - 13 2341_2343 c.2147_2149delAGG c.(2146-2151)gct>g p.EA716del PTPN14_ENST00000543945.1_3'UTR NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 716 Poly-Glu. lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding p.E716delE(1) NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) GATTCTGGAGCCTCCTCCTCCTC 0.626 18 398 --- --- --- --- CPSF3 51692 broad.mit.edu 37 2 9595887 9595888 + Splice_Site DEL GT GT - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr2:9595887_9595888delGT ENST00000460593.1 + 13 2630 c.e13+1 CPSF3_ENST00000238112.3_Splice_Site Q9UKF6 CPSF3_HUMAN cleavage and polyadenylation specific factor 3, 73kDa histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex 5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308) all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644) AAATTGACAGGTGTGTGTGTGT 0.366 7 318 --- --- --- --- ATP6V1C2 245973 broad.mit.edu 37 2 10917819 10917820 + Frame_Shift_Del DEL AG AG - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr2:10917819_10917820delAG ENST00000272238.4 + 11 1043_1044 c.934_935delAG c.(934-936)afs p.R312fs ATP6V1C2_ENST00000381661.3_Intron NM_001039362.1 NP_001034451.1 Q8NEY4 VATC2_HUMAN ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 312 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|proton-transporting V-type ATPase, V1 domain endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152) GCAGACCGACAGAGAGAGAGAG 0.604 35 517 --- --- --- --- PUM2 23369 broad.mit.edu 37 2 20482977 20482979 + In_Frame_Del DEL GCT GCT - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr2:20482977_20482979delGCT ENST00000361078.2 - 11 1471_1473 c.1449_1451delAGC c.(1447-1452)gct>gc p.AA483del PUM2_ENST00000403432.1_In_Frame_Del_p.AA483del|PUM2_ENST00000338086.5_In_Frame_Del_p.AA483del|PUM2_ENST00000319801.5_In_Frame_Del_p.AA483del|PUM2_ENST00000536417.1_In_Frame_Del_p.AA427del Q8TB72 PUM2_HUMAN pumilio RNA-binding family member 2 483 Ala-rich. regulation of translation perinuclear region of cytoplasm|stress granule protein binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3) 42 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGTTCCTCCAGCTGCTGCTGCTG 0.424 7 443 --- --- --- --- CEBPZ 10153 broad.mit.edu 37 2 37454908 37454908 + Frame_Shift_Del DEL T T - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr2:37454908delT ENST00000234170.5 - 2 1573 c.1428delA c.(1426-1428)aafs p.K476fs NM_005760.2 NP_005751.2 Q03701 CEBPZ_HUMAN CCAAT/enhancer binding protein (C/EBP), zeta 476 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 all_hematologic(82;0.21) ATTCAACATCTTTTTTTTTGA 0.368 9 249 --- --- --- --- SOS1 6654 broad.mit.edu 37 2 39222520 39222520 + Frame_Shift_Del DEL T T - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr2:39222520delT ENST00000426016.1 - 21 3176 c.3090delA c.(3088-3090)aafs p.K1030fs SOS1_ENST00000395038.2_Frame_Shift_Del_p.K1030fs|SOS1_ENST00000402219.2_Frame_Shift_Del_p.K1030fs Q07889 SOS1_HUMAN son of sevenless homolog 1 (Drosophila) 1030 apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 75 all_hematologic(82;0.21) GATAGCTATATTTTTTTGGCT 0.388 Noonan syndrome 8 606 --- --- --- --- USP34 9736 broad.mit.edu 37 2 61575023 61575025 + In_Frame_Del DEL TGG TGG - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr2:61575023_61575025delTGG ENST00000398571.2 - 15 2341_2343 c.2265_2267delCCA c.(2263-2268)cat>ca p.HH759del NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 759 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) gtggtggtgatggtggtggtggt 0.389 8 450 --- --- --- --- IGKV1D-8 0 broad.mit.edu 37 2 90259860 90259861 + RNA INS - - C TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr2:90259860_90259861insC ENST00000471857.1 + 0 236 AATTTACTCAGCCAATGTGCTC 0.480 10 911 --- --- --- --- ZNF514 84874 broad.mit.edu 37 2 95815034 95815035 + Frame_Shift_Ins INS - - T TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr2:95815034_95815035insT ENST00000295208.2 - 5 1657_1658 c.1195_1196insA c.(1195-1197)cctfs p.P399fs ZNF514_ENST00000411425.1_Frame_Shift_Ins_p.P399fs|MRPS5_ENST00000475040.1_5'UTR NM_032788.1 NP_116177.1 Q96K75 ZN514_HUMAN zinc finger protein 514 399 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(4)|lung(6)|urinary_tract(1) 11 AATTTATAGGGTTTTTTTTCCA 0.396 9 684 --- --- --- --- TMEM127 55654 broad.mit.edu 37 2 96919781 96919783 + In_Frame_Del DEL TGC TGC - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr2:96919781_96919783delTGC ENST00000258439.2 - 4 736_738 c.480_482delGCA c.(478-483)cat>ca p.QH160del TMEM127_ENST00000432959.1_In_Frame_Del_p.QH160del|TMEM127_ENST00000435268.1_In_Frame_Del_p.QH76del NM_001193304.2|NM_017849.3 NP_001180233.1|NP_060319.1 O75204 TM127_HUMAN transmembrane protein 127 160 negative regulation of cell proliferation|negative regulation of TOR signaling cascade cytoplasm|integral to membrane|plasma membrane endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1) 5 GTACTTCTTATGCTGCTGCTGCT 0.557 10 563 --- --- --- --- REV1 51455 broad.mit.edu 37 2 100055102 100055102 + Frame_Shift_Del DEL T T - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr2:100055102delT ENST00000258428.3 - 6 1402 c.1174delA c.(1174-1176)tgfs p.M392fs REV1_ENST00000393445.3_Frame_Shift_Del_p.M392fs|REV1_ENST00000465835.1_5'UTR NM_001037872.1|NM_016316.2 NP_001032961.1|NP_057400.1 Q9UBZ9 REV1_HUMAN REV1, polymerase (DNA directed) 392 DNA replication|error-prone translesion synthesis|response to UV nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CCTGTTTTCATTTTTTTTAAC 0.348 Direct reversal of damage 10 654 --- --- --- --- SLC20A1 6574 broad.mit.edu 37 2 113416607 113416608 + Frame_Shift_Del DEL AG AG - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr2:113416607_113416608delAG ENST00000272542.3 + 7 1523_1524 c.984_985delAG c.(982-987)ccagfs p.PE328fs SLC20A1_ENST00000480984.1_3'UTR NM_005415.4 NP_005406.3 Q8WUM9 S20A1_HUMAN solute carrier family 20 (phosphate transporter), member 1 328 phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to plasma membrane inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity p.R332fs*14(1) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3) 28 AGGAAGCTCCAGAGAGAGAGAG 0.515 10 436 --- --- --- --- CIR1 9541 broad.mit.edu 37 2 175213712 175213713 + Frame_Shift_Ins INS - - T TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr2:175213712_175213713insT ENST00000342016.3 - 10 957_958 c.865_866insA c.(865-867)acafs p.T289fs CIR1_ENST00000362053.5_3'UTR NM_004882.3 NP_004873.3 Q86X95 CIR1_HUMAN corepressor interacting with RBPJ, 1 289 Lys/Ser-rich. mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing nuclear speck protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1) 15 cttcctttgtatttttttttct 0.381 8 260 --- --- --- --- GTF3C3 9330 broad.mit.edu 37 2 197649613 197649614 + Frame_Shift_Ins INS - - T TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr2:197649613_197649614insT ENST00000263956.3 - 8 1170_1171 c.1081_1082insA c.(1081-1083)ttcfs p.F361fs GTF3C3_ENST00000409364.3_Frame_Shift_Ins_p.F361fs NM_012086.4 NP_036218.1 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 3, 102kDa 361 transcription factor TFIIIC complex DNA binding|protein binding breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 TTCTTCTGAAGTTTTTTTTTCC 0.337 8 338 --- --- --- --- SGOL2 151246 broad.mit.edu 37 2 201437004 201437004 + Frame_Shift_Del DEL T T - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr2:201437004delT ENST00000357799.4 + 7 2033 c.1935delT c.(1933-1935)aafs p.N645fs NM_001160033.1|NM_001160046.1|NM_152524.5 NP_001153505.1|NP_001153518.1|NP_689737.4 Q562F6 SGOL2_HUMAN shugoshin-like 2 (S. pombe) 645 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 46 AAAAAGGTAATTTTTTTTTCA 0.333 8 612 --- --- --- --- RP11-13J8.1 0 broad.mit.edu 37 2 201967217 201967218 + RNA DEL AG AG - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr2:201967217_201967218delAG ENST00000448256.1 + 0 627_628 aaaaaaaaaaagaaTTTGTTCT 0.460 10 26 --- --- --- --- CHRNG 1146 broad.mit.edu 37 2 233404488 233404490 + In_Frame_Del DEL CTG CTG - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr2:233404488_233404490delCTG ENST00000389494.3 + 1 52_54 c.31_33delCTG c.(31-33)del p.L14del CHRNG_ENST00000389492.3_In_Frame_Del_p.L14del NM_005199.4 NP_005190.4 P07510 ACHG_HUMAN cholinergic receptor, nicotinic, gamma (muscle) 14 muscle contraction cell junction|postsynaptic membrane acetylcholine receptor activity p.L11L(1) breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1) 22 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086) GCTGCTCCTCCTGCTGCTGCTGG 0.655 9 911 --- --- --- --- GAL3ST2 64090 broad.mit.edu 37 2 242738494 242738496 + In_Frame_Del DEL TCC TCC - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr2:242738494_242738496delTCC ENST00000192314.6 + 2 175_177 c.44_46delTCC c.(43-48)atc>a p.IL15del NM_022134.2 NP_071417.2 Q9H3Q3 G3ST2_HUMAN galactose-3-O-sulfotransferase 2 15 biosynthetic process Golgi cisterna membrane|integral to membrane galactosylceramide sulfotransferase activity p.L16I(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1) 14 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) TTCCGGGTCATCCTCCTCCTCCT 0.631 16 595 --- --- --- --- SGOL1 151648 broad.mit.edu 37 3 20216050 20216050 + Frame_Shift_Del DEL T T - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr3:20216050delT ENST00000412997.1 - 6 1324 c.973delA c.(973-975)tgfs p.M325fs SGOL1_ENST00000429446.3_Intron|SGOL1_ENST00000419233.2_Intron|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000421451.1_Frame_Shift_Del_p.M325fs|SGOL1_ENST00000443724.1_Intron|SGOL1_ENST00000452020.1_Intron|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000306698.2_Intron|SGOL1_ENST00000437051.1_Intron|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000412868.1_Frame_Shift_Del_p.M325fs|SGOL1_ENST00000263753.4_Frame_Shift_Del_p.M325fs|SGOL1_ENST00000417364.1_Intron|SGOL1_ENST00000442720.1_Intron|SGOL1_ENST00000425061.1_Intron NM_001199251.1 NP_001186180.1 Q5FBB7 SGOL1_HUMAN shugoshin-like 1 (S. pombe) 325 attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole protein binding kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2) 14 GATTTGTGCATTTTTTTTTGG 0.318 13 253 --- --- --- --- NKTR 4820 broad.mit.edu 37 3 42679035 42679036 + Frame_Shift_Ins INS - - C TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr3:42679035_42679036insC ENST00000232978.8 + 13 2027_2028 c.1839_1840insC c.(1837-1842)agccccfs p.SP613fs RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA NM_005385.3 NP_005376.2 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 613 protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 41 KIRC - Kidney renal clear cell carcinoma(284;0.24) TGAGTGACAGTCCCCCCCCTTC 0.421 19 1043 --- --- --- --- HHATL 57467 broad.mit.edu 37 3 42739670 42739672 + In_Frame_Del DEL GAA GAA - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr3:42739670_42739672delGAA ENST00000441594.1 - 6 916_918 c.655_657delTTC c.(655-657)del p.F219del HHATL_ENST00000310417.5_In_Frame_Del_p.F219del NM_020707.3 NP_065758.3 Q9HCP6 HHATL_HUMAN hedgehog acyltransferase-like 219 negative regulation of N-terminal protein palmitoylation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3) 19 KIRC - Kidney renal clear cell carcinoma(284;0.215) TGATGGGCCCGAAGAAGAAGAAG 0.552 7 559 --- --- --- --- QRICH1 54870 broad.mit.edu 37 3 49094314 49094316 + In_Frame_Del DEL TGC TGC - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr3:49094314_49094316delTGC ENST00000395443.2 - 3 1789_1791 c.1317_1319delGCA c.(1315-1320)caa>ca p.QQ439del QRICH1_ENST00000357496.2_In_Frame_Del_p.QQ439del|QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000424300.1_In_Frame_Del_p.QQ439del NM_198880.1 NP_942581.1 Q2TAL8 QRIC1_HUMAN glutamine-rich 1 439 Gln-rich. breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1) 25 BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) AACTTGGAgttgctgctgctgct 0.562 13 397 --- --- --- --- ERC2 26059 broad.mit.edu 37 3 55733470 55733472 + In_Frame_Del DEL TGG TGG - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr3:55733470_55733472delTGG ENST00000288221.6 - 16 3036_3038 c.2781_2783delCCA c.(2779-2784)cat>ca p.HH931del NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 931 Poly-His. cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) gtggtggtgatggtggtggtggt 0.502 16 1471 --- --- --- --- LRIG1 26018 broad.mit.edu 37 3 66436625 66436627 + In_Frame_Del DEL GCT GCT - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr3:66436625_66436627delGCT ENST00000383703.3 - 14 2242_2244 c.1639_1641delAGC c.(1639-1641)del p.S548del LRIG1_ENST00000273261.3_In_Frame_Del_p.S524del|LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_3'UTR Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like domains 1 524 Ig-like C2-type 1. integral to membrane NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1) 42 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) TCATGGGGGAGCTGCTGCTGCTG 0.547 8 1574 --- --- --- --- FOXP1 27086 broad.mit.edu 37 3 71247357 71247359 + In_Frame_Del DEL TGC TGC - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr3:71247357_71247359delTGC ENST00000318789.4 - 6 699_701 c.174_176delGCA c.(172-177)caa>ca p.QQ58del FOXP1_ENST00000498215.1_In_Frame_Del_p.QQ58del|FOXP1_ENST00000493089.1_In_Frame_Del_p.QQ58del|FOXP1_ENST00000318779.3_In_Frame_Del_p.QQ58del|FOXP1_ENST00000468577.1_In_Frame_Del_p.QQ58del|FOXP1_ENST00000484350.1_In_Frame_Del_p.QQ58del|FOXP1_ENST00000475937.1_In_Frame_Del_p.QQ58del NM_001244810.1|NM_001244813.1|NM_032682.5 NP_001231739.1|NP_001231742.1|NP_116071.2 Q9H334 FOXP1_HUMAN forkhead box P1 58 Gln-rich. cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) CAGTACCTGTTGCTGCTGCTGCT 0.586 T PAX5 ALL 11 537 --- --- --- --- LNP1 348801 broad.mit.edu 37 3 100148586 100148588 + In_Frame_Del DEL GAT GAT - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr3:100148586_100148588delGAT ENST00000383693.3 + 2 1293_1295 c.13_15delGAT c.(13-15)del p.D10del LNP1_ENST00000489752.1_In_Frame_Del_p.D10del NM_001085451.1 NP_001078920.1 A1A4G5 LNP1_HUMAN leukemia NUP98 fusion partner 1 10 Poly-Asp. cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 6 GGAGCACAAAGATGATGATGATG 0.507 13 1338 --- --- --- --- DHX36 170506 broad.mit.edu 37 3 154032977 154032978 + Frame_Shift_Ins INS - - T TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr3:154032977_154032978insT ENST00000496811.1 - 3 540_541 c.460_461insA c.(460-462)gttfs p.V154fs DHX36_ENST00000308361.6_Frame_Shift_Ins_p.V154fs|DHX36_ENST00000544526.1_Frame_Shift_Ins_p.V154fs|DHX36_ENST00000329463.5_Frame_Shift_Ins_p.V154fs NM_020865.2 NP_065916.2 Q9H2U1 DHX36_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 36 154 cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 35 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) GATTCTAAACATTTTTTTTTCT 0.337 12 289 --- --- --- --- FETUB 26998 broad.mit.edu 37 3 186362544 186362544 + Frame_Shift_Del DEL A A - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr3:186362544delA ENST00000265029.3 + 4 530 c.429delA c.(427-429)tcfs p.S143fs FETUB_ENST00000450521.1_Frame_Shift_Del_p.S143fs|FETUB_ENST00000488561.1_3'UTR|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000539949.1_5'UTR|FETUB_ENST00000382134.3_Frame_Shift_Del_p.S78fs|FETUB_ENST00000382136.3_Frame_Shift_Del_p.S106fs|RP11-134F2.2_ENST00000455926.1_RNA NM_014375.2 NP_055190.2 Q9UGM5 FETUB_HUMAN fetuin B 143 extracellular space cysteine-type endopeptidase inhibitor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1) 20 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0479) CAACAGTTTCAAAAAAAAAGA 0.418 15 586 --- --- --- --- ATP13A3 79572 broad.mit.edu 37 3 194181471 194181473 + In_Frame_Del DEL GAG GAG - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr3:194181471_194181473delGAG ENST00000439040.1 - 4 930_932 c.139_141delCTC c.(139-141)del p.L47del ATP13A3_ENST00000256031.4_In_Frame_Del_p.L47del Q9H7F0 AT133_HUMAN ATPase type 13A3 47 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 24 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) GCATCCAATAGAGGAGGAGGAGG 0.463 9 747 --- --- --- --- LYAR 55646 broad.mit.edu 37 4 4276167 4276169 + In_Frame_Del DEL CTT CTT - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr4:4276167_4276169delCTT ENST00000343470.4 - 7 997_999 c.757_759delAAG c.(757-759)del p.K253del LYAR_ENST00000452476.1_In_Frame_Del_p.K253del NM_017816.2 NP_060286.1 Q9NX58 LYAR_HUMAN Ly1 antibody reactive 253 Lys-rich. nucleolus metal ion binding|protein binding endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1) 17 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CCTTGCGCTGCTTCTTCTTCTTG 0.601 7 1540 --- --- --- --- CLOCK 9575 broad.mit.edu 37 4 56304530 56304532 + In_Frame_Del DEL CTG CTG - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr4:56304530_56304532delCTG ENST00000309964.4 - 21 2528_2530 c.2278_2280delCAG c.(2278-2280)del p.Q760del CLOCK_ENST00000381322.1_In_Frame_Del_p.Q760del|CLOCK_ENST00000513440.1_In_Frame_Del_p.Q760del NM_004898.3 NP_004889.1 O15516 CLOCK_HUMAN clock circadian regulator 760 Gln-rich. circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter cytoplasm|transcription factor complex DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107) cctgggagctctgctgctgctgc 0.512 10 270 --- --- --- --- YTHDC1 91746 broad.mit.edu 37 4 69202891 69202893 + In_Frame_Del DEL TCC TCC - rs141105019 TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr4:69202891_69202893delTCC ENST00000344157.4 - 4 1070_1072 c.735_737delGGA c.(733-738)gaa>ga p.EE247del YTHDC1_ENST00000355665.3_In_Frame_Del_p.EE247del|YTHDC1_ENST00000579690.1_In_Frame_Del_p.EE247del NM_001031732.2 NP_001026902.1 Q96MU7 YTDC1_HUMAN YTH domain containing 1 247 Glu-rich. p.E245E(1) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 30 ttcttcttcttcctcctcctcct 0.473 9 285 --- --- --- --- SULT1B1 27284 broad.mit.edu 37 4 70599153 70599153 + Frame_Shift_Del DEL A A - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr4:70599153delA ENST00000310613.2 - 6 872 c.575delT c.(574-576)tgfs p.L192fs NM_014465.3 NP_055280.2 O43704 ST1B1_HUMAN sulfotransferase family, cytosolic, 1B, member 1 192 3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process cytosol breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1) 24 TTCATAGTACAAAAAAAGTAT 0.348 7 968 --- --- --- --- CSN2 1447 broad.mit.edu 37 4 70823289 70823289 + Frame_Shift_Del DEL A A - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr4:70823289delA ENST00000353151.3 - 5 389 c.378delT c.(376-378)ttfs p.F126fs NM_001891.2 NP_001882.1 P05814 CASB_HUMAN casein beta 126 calcium ion transport extracellular region calcium ion binding|enzyme inhibitor activity|transporter activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2) 12 TTTGAGGGTCAAAAAAGGGTA 0.473 7 450 --- --- --- --- HERC5 51191 broad.mit.edu 37 4 89381265 89381266 + Frame_Shift_Ins INS - - A TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr4:89381265_89381266insA ENST00000264350.3 + 3 562_563 c.409_410insA c.(409-411)aaafs p.K137fs HERC5_ENST00000508695.1_3'UTR NM_016323.3 NP_057407.2 Q9UII4 HERC5_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 5 137 innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus cytosol|perinuclear region of cytoplasm ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4) 53 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000209) CATTTTACAAGAAAAAAAAATA 0.272 8 219 --- --- --- --- NAP1L5 266812 broad.mit.edu 37 4 89618431 89618433 + In_Frame_Del DEL CCT CCT - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr4:89618431_89618433delCCT ENST00000323061.5 - 1 953_955 c.473_475delAGG c.(472-477)gct>g p.EA158del HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Intron|HERC3_ENST00000402738.1_Intron NM_153757.2 NP_715638.1 Q96NT1 NP1L5_HUMAN nucleosome assembly protein 1-like 5 158 Glu-rich. nucleosome assembly nucleus protein binding endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(123;0.000181) TCTGCCGCAGcctcctcctcctc 0.626 10 601 --- --- --- --- MMRN1 22915 broad.mit.edu 37 4 90844391 90844393 + In_Frame_Del DEL AGC AGC - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr4:90844391_90844393delAGC ENST00000394980.1 + 5 1242_1244 c.923_925delAGC c.(922-927)gag>g p.EQ308del MMRN1_ENST00000394981.1_In_Frame_Del_p.EQ274del|MMRN1_ENST00000508372.1_In_Frame_Del_p.EQ50del|MMRN1_ENST00000264790.2_In_Frame_Del_p.EQ308del Q13201 MMRN1_HUMAN multimerin 1 308 cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2) 72 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) GGAGTAGCTGAGCAGCAGCAGCA 0.448 7 1508 --- --- --- --- ZNF827 152485 broad.mit.edu 37 4 146823381 146823383 + In_Frame_Del DEL GTG GTG - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr4:146823381_146823383delGTG ENST00000508784.1 - 2 1255_1257 c.1028_1030delCAC c.(1027-1032)caa>c p.PQ343del ZNF827_ENST00000379448.4_In_Frame_Del_p.PQ343del|ZNF827_ENST00000513320.1_Intron Q17R98 ZN827_HUMAN zinc finger protein 827 343 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all_hematologic(180;0.151) TCCAGGGATTgtggtggtggtgg 0.512 9 261 --- --- --- --- CLCN3 0 broad.mit.edu 37 4 170613460 170613460 + Frame_Shift_Del DEL A A - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr4:170613460delA ENST00000513761.1 + 7 1484 c.925delA c.(925-927)aafs p.K310fs CLCN3_ENST00000504131.2_Frame_Shift_Del_p.K293fs|CLCN3_ENST00000347613.4_Frame_Shift_Del_p.K310fs|CLCN3_ENST00000360642.3_Frame_Shift_Del_p.K310fs NM_001829.3 NP_001820.2 P51790 CLCN3_HUMAN chloride channel, voltage-sensitive 3 310 endosomal lumen acidification cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 29 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131) AAACGAAGCTAAAAAAAGGGA 0.308 10 593 --- --- --- --- BRD9 65980 broad.mit.edu 37 5 889776 889777 + Frame_Shift_Ins INS - - A TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr5:889776_889777insA ENST00000323510.4 - 1 37_38 c.38_39insT c.(37-39)tctfs p.S13fs BRD9_ENST00000467963.1_Intron|BRD9_ENST00000435709.2_Frame_Shift_Ins_p.S13fs|BRD9_ENST00000483173.1_Intron|BRD9_ENST00000388890.4_Frame_Shift_Ins_p.S13fs Q9H8M2 BRD9_HUMAN bromodomain containing 9 0 nucleic acid binding breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3) 29 Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185) ACAATTTAAGGAAAAAAAAATT 0.446 7 366 --- --- --- --- JMY 133746 broad.mit.edu 37 5 78610476 78610478 + In_Frame_Del DEL CCA CCA - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr5:78610476_78610478delCCA ENST00000396137.4 + 9 2923_2925 c.2461_2463delCCA c.(2461-2463)del p.P825del JMY_ENST00000412001.1_Intron NM_152405.4 NP_689618.4 Q8N9B5 JMY_HUMAN junction mediating and regulatory protein, p53 cofactor 825 Pro-rich. 'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter cell leading edge|cytoplasm|cytoskeleton|nucleus actin binding|transcription coactivator activity endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1) 16 all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35) tccccctcccccaccaccaccac 0.537 7 287 --- --- --- --- THBS4 7060 broad.mit.edu 37 5 79372774 79372776 + In_Frame_Del DEL TGA TGA - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr5:79372774_79372776delTGA ENST00000350881.2 + 16 2179_2181 c.1989_1991delTGA c.(1987-1992)tgt>tg p.CD663del THBS4_ENST00000511733.1_In_Frame_Del_p.CD572del|CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA NM_003248.4 NP_003239.2 P35443 TSP4_HUMAN thrombospondin 4 663 endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation basement membrane|extracellular space calcium ion binding|heparin binding|integrin binding|structural molecule activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3) 34 Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34) GTGACGAGTGTGATGATGATGAT 0.562 9 1289 --- --- --- --- ZNF608 57507 broad.mit.edu 37 5 124079813 124079815 + In_Frame_Del DEL CTC CTC - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr5:124079813_124079815delCTC ENST00000306315.5 - 1 1303_1305 c.868_870delGAG c.(868-870)del p.E290del ZNF608_ENST00000504926.1_Intron NM_020747.2 NP_065798.2 Q9ULD9 ZN608_HUMAN zinc finger protein 608 290 intracellular zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) GCCTGTGGCTCTCCTCCTCCTCC 0.522 11 1099 --- --- --- --- SLC12A2 6558 broad.mit.edu 37 5 127420207 127420209 + In_Frame_Del DEL CGG CGG - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr5:127420207_127420209delCGG ENST00000262461.2 + 1 750_752 c.561_563delCGG c.(559-564)tcc>tc p.SG187del SLC12A2_ENST00000343225.4_In_Frame_Del_p.SG187del NM_001046.2 NP_001037.1 P55011 S12A2_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 2 187 potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport integral to plasma membrane|membrane fraction ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_cancers(142;0.0972)|Prostate(80;0.151) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978) Bumetanide(DB00887)|Potassium Chloride(DB00761) GCCTGCACTCCGGCGGCGGCGGC 0.650 8 204 --- --- --- --- TCERG1 10915 broad.mit.edu 37 5 145886723 145886723 + Frame_Shift_Del DEL A A - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr5:145886723delA ENST00000296702.5 + 19 2901 c.2863delA c.(2863-2865)aafs p.K957fs TCERG1_ENST00000394421.2_Frame_Shift_Del_p.K936fs NM_006706.3 NP_006697.2 O14776 TCRG1_HUMAN transcription elongation regulator 1 957 FF 5. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1) 46 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGCACTTACCAAAAAAAAGAG 0.373 7 639 --- --- --- --- GEMIN5 25929 broad.mit.edu 37 5 154287370 154287370 + Frame_Shift_Del DEL T T - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr5:154287370delT ENST00000285873.7 - 16 2251 c.2176delA c.(2176-2178)gtfs p.S726fs NM_001252156.1|NM_015465.4 NP_001239085.1|NP_056280.2 Q8TEQ6 GEMI5_HUMAN gem (nuclear organelle) associated protein 5 726 ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly Cajal body|cytosol|spliceosomal complex protein binding|snRNA binding breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) AATTCAATACTTTTTTTGCCT 0.373 7 525 --- --- --- --- TIMD4 91937 broad.mit.edu 37 5 156378745 156378747 + In_Frame_Del DEL TTG TTG - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr5:156378745_156378747delTTG ENST00000274532.2 - 3 511_513 c.455_457delCAA c.(454-459)agc>a p.TS152del TIMD4_ENST00000407087.3_In_Frame_Del_p.TS152del NM_138379.2 NP_612388.2 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain containing 4 152 Thr-rich. integral to membrane NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GTGGTGGGGCTTGTTGTTGTTGT 0.537 16 1766 --- --- --- --- RIOK1 83732 broad.mit.edu 37 6 7393450 7393452 + In_Frame_Del DEL GAC GAC - rs2274212 byFrequency TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr6:7393450_7393452delGAC ENST00000379834.2 + 2 697_699 c.190_192delGAC c.(190-192)del p.D69del NM_031480.2|NM_153005.1 NP_113668.2|NP_694550.1 Q9BRS2 RIOK1_HUMAN RIO kinase 1 69 ATP binding|protein serine/threonine kinase activity p.D57G(1) cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Ovarian(93;0.0418) ggagggttatgacgatgatgatg 0.433 12 473 --- --- --- --- BTN2A2 10385 broad.mit.edu 37 6 26384091 26384093 + In_Frame_Del DEL CCT CCT - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr6:26384091_26384093delCCT ENST00000356709.4 + 2 153_155 c.42_44delCCT c.(40-45)tcc>tc p.SL14del BTN2A2_ENST00000432533.2_In_Frame_Del_p.SL14del|BTN2A2_ENST00000352867.2_In_Frame_Del_p.SL14del|BTN2A2_ENST00000416795.2_In_Frame_Del_p.SL14del|BTN2A2_ENST00000482536.1_In_Frame_Del_p.SL14del|BTN2A2_ENST00000469230.1_In_Frame_Del_p.SL14del NM_001197240.1|NM_006995.4 NP_001184169.1|NP_008926.2 Q8WVV5 BT2A2_HUMAN butyrophilin, subfamily 2, member A2 14 negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion integral to membrane breast(2)|endometrium(3)|large_intestine(5)|lung(13) 23 TGCCAGCCTCcctcctcctcctc 0.581 15 552 --- --- --- --- BTN2A3P 0 broad.mit.edu 37 6 26422388 26422390 + RNA DEL CCT CCT - rs113134648 TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr6:26422388_26422390delCCT ENST00000466808.2 + 0 42_44 GGCCAGCCTCCCTCCTCCTCCTC 0.586 31 820 --- --- --- --- TRIM26 7726 broad.mit.edu 37 6 30157254 30157254 + Frame_Shift_Del DEL T T - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr6:30157254delT ENST00000454678.2 - 8 1281 c.845delA c.(844-846)agfs p.K282fs TRIM26_ENST00000437089.1_Frame_Shift_Del_p.K282fs|TRIM26_ENST00000453195.1_Frame_Shift_Del_p.K282fs NM_003449.4 NP_003440.1 Q12899 TRI26_HUMAN tripartite motif containing 26 282 DNA binding|zinc ion binding p.K282fs*16(1) lung(1)|ovary(2) 3 TTCTCCGGTCTTTTTTTTAAC 0.483 8 617 --- --- --- --- STK19 8859 broad.mit.edu 37 6 31939825 31939826 + Frame_Shift_Ins INS - - G TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr6:31939825_31939826insG ENST00000375331.2 + 1 218_219 c.52_53insG c.(52-54)ggcfs p.G18fs DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000375349.3_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs NM_004197.1 NP_004188.1 P49842 STK19_HUMAN serine/threonine kinase 19 18 nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(5)|upper_aerodigestive_tract(2) 7 GCGACAGTGGCGGGCAAACCCC 0.634 25 852 --- --- --- --- TBC1D22B 55633 broad.mit.edu 37 6 37250062 37250063 + Frame_Shift_Ins INS - - C TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr6:37250062_37250063insC ENST00000373491.3 + 4 669_670 c.523_524insC c.(523-525)cccfs p.P175fs NM_017772.2 NP_060242.2 Q9NU19 TB22B_HUMAN TBC1 domain family, member 22B 175 intracellular Rab GTPase activator activity p.A175P(1) breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1) 15 OV - Ovarian serous cystadenocarcinoma(102;0.241) CGCTTCTGGGGCCCCCCCAATG 0.569 7 345 --- --- --- --- MDFI 4188 broad.mit.edu 37 6 41621169 41621171 + In_Frame_Del DEL CTG CTG - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr6:41621169_41621171delCTG ENST00000373050.4 + 4 601_603 c.414_416delCTG c.(412-417)ctc>ct p.LC138del Q99750 MDFI_HUMAN MyoD family inhibitor 199 cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway cytoplasm|nucleus endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1) 8 Ovarian(28;0.0327)|Colorectal(47;0.121) Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138) ACTCGTGCCTCTGCTGCTGCTGC 0.655 16 624 --- --- --- --- GSTA1 2938 broad.mit.edu 37 6 52664097 52664100 + Splice_Site DEL TGAA TGAA - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr6:52664097_52664100delTGAA ENST00000334575.5 - 2 126 c.e2-2 NM_145740.3 NP_665683.1 P08263 GSTA1_HUMAN glutathione S-transferase alpha 1 glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 12 Lung NSC(77;0.118) Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143) TCTCTAAGCCtgaatgaatgaatg 0.431 7 240 --- --- --- --- C6orf165 154313 broad.mit.edu 37 6 88144700 88144700 + Frame_Shift_Del DEL A A - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr6:88144700delA ENST00000507897.1 + 11 1506 c.1423delA c.(1423-1425)aafs p.K476fs C6ORF165_ENST00000369562.4_Frame_Shift_Del_p.K476fs Q8IYR0 CF165_HUMAN chromosome 6 open reading frame 165 476 NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) AGAAAAGGCCAAAAAAAATAC 0.269 14 464 --- --- --- --- ARHGAP18 93663 broad.mit.edu 37 6 129959602 129959603 + Frame_Shift_Ins INS - - T TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr6:129959602_129959603insT ENST00000368149.2 - 3 576_577 c.488_489insA c.(487-489)aaafs p.K163fs NM_033515.2 NP_277050.2 Q8N392 RHG18_HUMAN Rho GTPase activating protein 18 163 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3) 18 OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074) GGTACTGTTTGTTTTTTTTCCT 0.421 10 1115 --- --- --- --- MTHFD1L 25902 broad.mit.edu 37 6 151358163 151358164 + Frame_Shift_Ins INS - - A TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr6:151358163_151358164insA ENST00000367321.3 + 26 3031_3032 c.2757_2758insA c.(2755-2760)gaaaaafs p.EK919fs NM_001242767.1|NM_001242768.1|NM_015440.4 NP_001229696.1|NP_001229697.1|NP_056255.2 Q6UB35 C1TM_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like 919 Formyltetrahydrofolate synthetase. folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity p.L914fs*14(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2) 29 Ovarian(120;0.128) OV - Ovarian serous cystadenocarcinoma(155;8.7e-12) ACCAACCTGACAAAAAAGGTGT 0.480 14 484 --- --- --- --- POU6F2 11281 broad.mit.edu 37 7 39379288 39379290 + In_Frame_Del DEL CAG CAG - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr7:39379288_39379290delCAG ENST00000518318.2 + 5 601_603 c.559_561delCAG c.(559-561)del p.Q196del POU6F2_ENST00000559001.1_In_Frame_Del_p.Q188del|POU6F2_ENST00000403058.1_In_Frame_Del_p.Q196del|POU6F2_ENST00000517348.1_3'UTR P78424 PO6F2_HUMAN POU class 6 homeobox 2 196 Gln-rich. Q -> QQ (in Ref. 1; AAB49727/AAB49728). central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 gctccagctccagcagcagcagc 0.616 10 117 --- --- --- --- VKORC1L1 154807 broad.mit.edu 37 7 65419353 65419354 + In_Frame_Ins INS - - TTA rs71982071 TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr7:65419353_65419354insTTA ENST00000434382.2 + 2 490_491 c.487_488insTTA c.(487-489)tat>TTAtat p.162_163insL VKORC1L1_ENST00000360768.3_3'UTR Q8N0U8 VKORL_HUMAN vitamin K epoxide reductase complex, subunit 1-like 1 0 integral to membrane large_intestine(1)|prostate(1) 2 Lung NSC(55;0.197) Menadione(DB00170)|Warfarin(DB00682) GCAGCAGGTTTttattattatt 0.416 9 30 --- --- --- --- STX1A 6804 broad.mit.edu 37 7 73123425 73123427 + In_Frame_Del DEL CAT CAT - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr7:73123425_73123427delCAT ENST00000222812.3 - 2 82_84 c.56_58delATG c.(55-60)gtc>g p.DV19del STX1A_ENST00000395155.3_In_Frame_Del_p.DV19del|STX1A_ENST00000395156.3_In_Frame_Del_p.DV19del|STX1A_ENST00000395154.3_In_Frame_Del_p.DV19del NM_004603.3 NP_004594.1 Q16623 STX1A_HUMAN syntaxin 1A (brain) 19 energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome SNAP receptor activity large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 5 Lung NSC(55;0.0908)|all_lung(88;0.198) GTGACAGCGACATCATCATCATC 0.586 7 711 --- --- --- --- DTX2 113878 broad.mit.edu 37 7 76112249 76112249 + Frame_Shift_Del DEL A A - rs147779783 byFrequency TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr7:76112249delA ENST00000324432.5 + 5 1203 c.693delA c.(691-693)ccfs p.P231fs DTX2_ENST00000413936.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446820.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000430490.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000307569.8_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446600.1_Frame_Shift_Del_p.P140fs NM_020892.2 NP_065943.2 Q86UW9 DTX2_HUMAN deltex homolog 2 (Drosophila) 231 Notch signaling pathway cytoplasm|nucleus protein binding|zinc ion binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2) 27 AGCACCCCCCACACAGGACCG 0.657 8 1617 --- --- --- --- TMEM60 85025 broad.mit.edu 37 7 77423460 77423460 + Frame_Shift_Del DEL T T - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr7:77423460delT ENST00000257663.3 - 2 607 c.231delA c.(229-231)aafs p.K77fs NM_032936.3 NP_116325.1 Q9H2L4 TMM60_HUMAN transmembrane protein 60 77 integral to membrane endometrium(1)|large_intestine(1)|lung(2) 4 GGTACCAGGCTTTTTTTTTAA 0.408 14 602 --- --- --- --- PHTF2 57157 broad.mit.edu 37 7 77569581 77569581 + Frame_Shift_Del DEL T T - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr7:77569581delT ENST00000416283.2 + 12 1726 c.1600delT c.(1600-1602)ttfs p.F535fs PHTF2_ENST00000248550.7_Frame_Shift_Del_p.F569fs|PHTF2_ENST00000424760.1_Frame_Shift_Del_p.F531fs|PHTF2_ENST00000307305.8_Frame_Shift_Del_p.F531fs|PHTF2_ENST00000275575.7_Frame_Shift_Del_p.F531fs|PHTF2_ENST00000422959.2_Frame_Shift_Del_p.F535fs NM_001127357.1|NM_020432.4 NP_001120829.1|NP_065165.3 Q8N3S3 PHTF2_HUMAN putative homeodomain transcription factor 2 569 regulation of transcription, DNA-dependent|transcription, DNA-dependent endoplasmic reticulum|nucleus DNA binding endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 19 GTGGATTTTCTTTTTTTTGCT 0.303 8 675 --- --- --- --- GIGYF1 64599 broad.mit.edu 37 7 100284335 100284337 + In_Frame_Del DEL CCT CCT - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr7:100284335_100284337delCCT ENST00000275732.5 - 7 1838_1840 c.629_631delAGG c.(628-633)ggc>g p.EG210del GIGYF1_ENST00000471340.2_Intron NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 210 Poly-Glu. p.E210delE(1) central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) CTCCAGCTGCcctcctcctcctc 0.700 10 255 --- --- --- --- CDK5 1020 broad.mit.edu 37 7 150754217 150754217 + Frame_Shift_Del DEL T T - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr7:150754217delT ENST00000485972.1 - 2 749 c.68delA c.(67-69)acfs p.N23fs CDK5_ENST00000297518.4_Frame_Shift_Del_p.N23fs NM_004935.3 NP_004926.1 Q00535 CDK5_HUMAN cyclin-dependent kinase 5 23 Protein kinase. activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1) 9 Breast(660;0.159)|Ovarian(593;0.182) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242) AGTCTCCCGGTTTTTGGCCTT 0.582 11 1177 --- --- --- --- NPM2 10361 broad.mit.edu 37 8 21892020 21892021 + Splice_Site INS - - A TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr8:21892020_21892021insA ENST00000397940.1 + 7 1546_1547 c.e7-1 NPM2_ENST00000289820.6_Splice_Site|NPM2_ENST00000521157.1_Splice_Site|NPM2_ENST00000518119.1_Splice_Site|NPM2_ENST00000381530.5_Splice_Site Q86SE8 NPM2_HUMAN nucleophosmin/nucleoplasmin 2 chromatin remodeling|embryo development|oocyte differentiation|positive regulation of meiosis|regulation of exit from mitosis|single fertilization cytoplasmic chromatin|nuclear chromatin histone binding|nucleic acid binding large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 4 Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618) TTGGTTCCCAGAAAAAAAAGCT 0.406 7 847 --- --- --- --- ESCO2 157570 broad.mit.edu 37 8 27634576 27634577 + Frame_Shift_Ins INS - - A rs80359854 TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr8:27634576_27634577insA ENST00000305188.8 + 3 989_990 c.751_752insA c.(751-753)aaafs p.K251fs ESCO2_ENST00000523910.1_3'UTR|ESCO2_ENST00000397418.2_5'UTR NM_001017420.2 NP_001017420.1 Q56NI9 ESCO2_HUMAN establishment of sister chromatid cohesion N-acetyltransferase 2 251 cell cycle|post-translational protein acetylation|regulation of DNA replication chromatin|nucleus acyltransferase activity|metal ion binding autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Ovarian(32;0.000953) UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132) GACTGTCAGTGAAAAAAAAACT 0.396 SC Phocomelia syndrome 8 330 --- --- --- --- NUGGC 389643 broad.mit.edu 37 8 27888776 27888776 + Frame_Shift_Del DEL T T - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr8:27888776delT ENST00000413272.2 - 15 2034 c.1892delA c.(1891-1893)atfs p.N631fs NUGGC_ENST00000341513.6_Frame_Shift_Del_p.N631fs NM_001010906.1 NP_001010906.1 nuclear GTPase, germinal center associated GATCAGGAAATTTTTTTTGCA 0.453 14 1070 --- --- --- --- GTF2E2 2961 broad.mit.edu 37 8 30511012 30511014 + In_Frame_Del DEL GAT GAT - rs113662547 TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr8:30511012_30511014delGAT ENST00000355904.4 - 2 384_386 c.102_104delATC c.(100-105)tcg>tc p.SS34del NM_002095.4 NP_002086.1 P29084 T2EB_HUMAN general transcription factor IIE, polypeptide 2, beta 34kDa 34 Poly-Ser. regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction transcription factor TFIIE complex DNA binding|protein binding endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135) CTTCTTTGACGATGATGATGATG 0.384 8 787 --- --- --- --- WRN 7486 broad.mit.edu 37 8 30945377 30945379 + In_Frame_Del DEL AAG AAG - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr8:30945377_30945379delAAG ENST00000298139.5 + 12 1766_1768 c.1517_1519delAAG c.(1516-1521)aaa>a p.KE506del NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 506 base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) CTTCCTACTAaagaagaagaaga 0.360 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 10 433 --- --- --- --- UNC5D 137970 broad.mit.edu 37 8 35608248 35608248 + Frame_Shift_Del DEL T T - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr8:35608248delT ENST00000287272.2 + 12 1897 c.1877delT c.(1876-1878)gtfs p.V626fs UNC5D_ENST00000420357.1_Frame_Shift_Del_p.V628fs|UNC5D_ENST00000453357.2_Frame_Shift_Del_p.V690fs|UNC5D_ENST00000416672.1_Frame_Shift_Del_p.V700fs|UNC5D_ENST00000404895.2_Frame_Shift_Del_p.V695fs|UNC5D_ENST00000449677.1_Frame_Shift_Del_p.V271fs Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 695 ZU5. apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) AAGGTGGCGGTTTTTGGCTGC 0.488 7 965 --- --- --- --- STAU2 27067 broad.mit.edu 37 8 74507471 74507471 + Frame_Shift_Del DEL T T - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr8:74507471delT ENST00000355780.5 - 10 1213 c.995delA c.(994-996)atfs p.N332fs STAU2_ENST00000522509.1_Frame_Shift_Del_p.N332fs|STAU2_ENST00000521727.1_Frame_Shift_Del_p.N344fs|STAU2_ENST00000521451.1_Frame_Shift_Del_p.N144fs|STAU2_ENST00000521210.1_Frame_Shift_Del_p.N260fs|STAU2_ENST00000523558.1_Frame_Shift_Del_p.N192fs|STAU2_ENST00000524300.1_Frame_Shift_Del_p.N364fs|STAU2_ENST00000517542.1_Frame_Shift_Del_p.N326fs|STAU2_ENST00000522695.1_Frame_Shift_Del_p.N332fs|STAU2_ENST00000519961.1_Frame_Shift_Del_p.N364fs NM_014393.2 NP_055208.2 Q9NUL3 STAU2_HUMAN staufen double-stranded RNA binding protein 2 364 DRBM 4. transport endoplasmic reticulum|microtubule|nucleolus double-stranded RNA binding p.N332fs*67(1) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1) 19 Breast(64;0.0138) Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972) TTCTGCAGCATTTTTTTTGGC 0.328 7 560 --- --- --- --- TP53INP1 0 broad.mit.edu 37 8 95952409 95952411 + In_Frame_Del DEL TCT TCT - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr8:95952409_95952411delTCT ENST00000342697.4 - 3 557_559 c.150_152delAGA c.(148-153)gag>ga p.EE50del TP53INP1_ENST00000448464.2_In_Frame_Del_p.EE50del|NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000378776.4_In_Frame_Del_p.EE50del NM_033285.3 NP_150601.1 Q96A56 T53I1_HUMAN tumor protein p53 inducible nuclear protein 1 50 Glu-rich. apoptosis PML body p.E50E(1) kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 9 Breast(36;8.75e-07) GATGTCCTCCTCTTCTTCTTCTT 0.458 7 265 --- --- --- --- COL22A1 169044 broad.mit.edu 37 8 139809072 139809072 + Frame_Shift_Del DEL T T - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr8:139809072delT ENST00000303045.6 - 12 2032 c.1586delA c.(1585-1587)agfs p.K529fs COL22A1_ENST00000435777.1_Frame_Shift_Del_p.K529fs NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 529 Collagen-like 2.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CTTTTCACCCTTTTCCCCTTG 0.463 HNSCC(7;0.00092) 9 1532 --- --- --- --- KANK1 23189 broad.mit.edu 37 9 732475 732477 + In_Frame_Del DEL GAG GAG - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr9:732475_732477delGAG ENST00000382303.1 + 10 3755_3757 c.3103_3105delGAG c.(3103-3105)del p.E1039del KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_In_Frame_Del_p.E881del|KANK1_ENST00000382297.2_In_Frame_Del_p.E1039del NM_001256876.1 NP_001243805.1 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 1039 negative regulation of actin filament polymerization cytoplasm autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1) 43 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) TCTTGAAGAAGAGGAGGAGGAGG 0.463 16 742 --- --- --- --- CDKN2A 1029 broad.mit.edu 37 9 21971096 21971109 + Frame_Shift_Del DEL CCCGGGCAGCGTCG CCCGGGCAGCGTCG - rs11552822 TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr9:21971096_21971109delCCCGGGCAGCGTCG ENST00000579755.1 - 2 584_597 c.292_305delCGACGCTGCCCGGG c.(292-306)afs p.RRCPG98fs RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.HDAARE32fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.HDAARE32fs|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.HDAARE32fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.HDAARE32fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.HDAARE83fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.HDAARE83fs|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.RRCPG98fs|CDKN2A_ENST00000304494.5_Frame_Shift_Del_p.HDAARE83fs|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.HDAARE32fs|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.RRCPG139fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.HDAARE83fs P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 0 H -> P (in CMM2).|H -> Q (in CMM2). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(44)|p.E88*(15)|p.D84Y(11)|p.D84N(7)|p.D84V(6)|p.E88K(3)|p.D84fs*63(2)|p.D84H(2)|p.R87fs*59(2)|p.R139Q(2)|p.D84G(2)|p.H83fs*2(2)|p.V82_G89>G(1)|p.G143V(1)|p.R80fs*34(1)|p.A86V(1)|p.D84fs*1(1)|p.P142fs*>32(1)|p.R139*(1)|p.V82fs*62(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.V82_E88del(1)|p.A86fs*34(1)|p.H83Q(1)|p.R139L(1)|p.0(1)|p.D84_F90del(1)|p.D84fs*36(1)|p.R137fs*48(1)|p.D84D(1)|p.R139R(1)|p.A85T(1)|p.A85P(1)|p.E87K(1)|p.R87L(1)|p.E61_L94del(1)|p.R87Q(1)|p.R87W(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) AGGAAGCCCTCCCGGGCAGCGTCGTGCACGGGTC 0.734 D84Y(DU145_PROSTATE)|D84Y(LK2_LUNG)|E88*(CAL33_UPPER_AERODIGESTIVE_TRACT) 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 7 158 --- --- --- --- RUSC2 9853 broad.mit.edu 37 9 35560102 35560104 + In_Frame_Del DEL GCT GCT - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr9:35560102_35560104delGCT ENST00000455600.1 + 10 4034_4036 c.3465_3467delGCT c.(3463-3468)gag>ga p.EL1155del NM_001135999.1 NP_001129471.1 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 1155 RUN. cytosol NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) TCTTTGAAGAGCTGCTGCTGCTG 0.616 8 875 --- --- --- --- CNTNAP3B 728577 broad.mit.edu 37 9 43844265 43844265 + Frame_Shift_Del DEL G G - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr9:43844265delG ENST00000377564.3 + 10 1992 c.1599delG c.(1597-1599)gcfs p.A533fs NM_001201380.1 NP_001188309.1 Q96NU0 CNT3B_HUMAN contactin associated protein-like 3B 533 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3) 10 AGCAGGGGGCGCTGGGGAGTT 0.542 11 68 --- --- --- --- ECM2 1842 broad.mit.edu 37 9 95277146 95277148 + In_Frame_Del DEL TCC TCC - rs137929518 byFrequency TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr9:95277146_95277148delTCC ENST00000344604.5 - 4 968_970 c.819_821delGGA c.(817-822)gat>ga p.ED273del CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_In_Frame_Del_p.ED251del NM_001197295.1|NM_001393.3 NP_001184224.1|NP_001384.1 O94769 ECM2_HUMAN extracellular matrix protein 2, female organ and adipocyte specific 273 Poly-Glu. cell-matrix adhesion integrin binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 ctcctcctcatcctcctcctcct 0.606 7 649 --- --- --- --- MRPL50 54534 broad.mit.edu 37 9 104152751 104152752 + Frame_Shift_Ins INS - - TA TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr9:104152751_104152752insTA ENST00000374865.4 - 2 494_495 c.473_474insTA c.(472-474)ttafs p.L158fs MRPL50_ENST00000539624.1_Intron NM_019051.2 NP_061924.1 Q8N5N7 RM50_HUMAN mitochondrial ribosomal protein L50 158 mitochondrion|ribosome large_intestine(1)|lung(2)|prostate(2) 5 Acute lymphoblastic leukemia(62;0.0559) GAATTGCTTAGTAACTCCAAGT 0.381 8 740 --- --- --- --- TNC 3371 broad.mit.edu 37 9 117797539 117797539 + Frame_Shift_Del DEL G G - rs148674204 byFrequency TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr9:117797539delG ENST00000350763.4 - 22 6142 c.5731delC c.(5731-5733)ggfs p.R1911fs TNC_ENST00000542877.1_Frame_Shift_Del_p.R1548fs|TNC_ENST00000423613.2_Frame_Shift_Del_p.R1638fs|TNC_ENST00000537320.1_Frame_Shift_Del_p.R1274fs|TNC_ENST00000535648.1_Frame_Shift_Del_p.R1456fs|TNC_ENST00000340094.3_Frame_Shift_Del_p.R1547fs|TNC_ENST00000341037.4_Frame_Shift_Del_p.R1729fs|TNC_ENST00000345230.3_Frame_Shift_Del_p.R1274fs|TNC_ENST00000346706.3_Frame_Shift_Del_p.R1365fs NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 1911 Fibronectin type-III 15. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 ACTGATGCCCGGGGGGGTCGC 0.478 7 809 --- --- --- --- ENG 2022 broad.mit.edu 37 9 130581107 130581107 + Frame_Shift_Del DEL T T - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr9:130581107delT ENST00000344849.3 - 11 1596 c.1316delA c.(1315-1317)agfs p.K439fs ENG_ENST00000480266.1_Intron|RP11-228B15.4_ENST00000439298.1_RNA|ENG_ENST00000373203.4_Frame_Shift_Del_p.K439fs|RP11-228B15.4_ENST00000425991.1_RNA P17813 EGLN_HUMAN endoglin 439 Ser/Thr-rich. artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing cell surface|external side of plasma membrane|extracellular space|membrane fraction activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 17 GCAGTGCACCTTTTTCTGGGG 0.637 Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia 7 1087 --- --- --- --- NOTCH1 4851 broad.mit.edu 37 9 139390945 139390947 + In_Frame_Del DEL GTG GTG - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr9:139390945_139390947delGTG ENST00000277541.6 - 34 7319_7321 c.7244_7246delCAC c.(7243-7248)cag>c p.PQ2415del NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 2415 Poly-Pro. aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity p.Q2417*(2)|p.P2416fs*11(1) breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) AGGTGCGGCTGTGGTGGTGGTGG 0.650 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 9 226 --- --- --- --- SFMBT2 57713 broad.mit.edu 37 10 7212995 7212997 + In_Frame_Del DEL CTC CTC - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr10:7212995_7212997delCTC ENST00000361972.4 - 20 2527_2529 c.2437_2439delGAG c.(2437-2439)del p.E813del SFMBT2_ENST00000397167.1_In_Frame_Del_p.E813del NM_001018039.1 NP_001018049.1 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 813 regulation of transcription, DNA-dependent nucleus NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 99 GAACCAGTCTCTCCTCCTCCTCC 0.596 9 861 --- --- --- --- PCDH15 65217 broad.mit.edu 37 10 55587198 55587200 + In_Frame_Del DEL GGC GGC - rs12246234 TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr10:55587198_55587200delGGC ENST00000373965.2 - 33 4735_4737 c.4341_4343delGCC c.(4339-4344)cct>cc p.PP1449del PCDH15_ENST00000395432.2_In_Frame_Del_p.PP1402del|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_In_Frame_Del_p.PP1439del|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_In_Frame_Del_p.PP1053del|PCDH15_ENST00000437009.1_In_Frame_Del_p.PP1371del|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000361849.3_In_Frame_Del_p.PP1442del|PCDH15_ENST00000395433.1_In_Frame_Del_p.PP1417del|PCDH15_ENST00000320301.6_In_Frame_Del_p.PP1442del|PCDH15_ENST00000414778.1_In_Frame_Del_p.PP1444del|PCDH15_ENST00000395445.1_In_Frame_Del_p.PP1449del|PCDH15_ENST00000395438.1_In_Frame_Del_p.PP1442del NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1442 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) ACCTggcggaggcggcggcggcg 0.571 HNSCC(58;0.16) 7 469 --- --- --- --- ANK3 288 broad.mit.edu 37 10 61828745 61828747 + In_Frame_Del DEL GTG GTG - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr10:61828745_61828747delGTG ENST00000280772.1 - 37 12083_12085 c.11892_11894delCAC c.(11890-11895)act>ac p.TT3964del ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3964 Thr-rich. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 ggtggtggcagtggtggtggtgg 0.498 7 603 --- --- --- --- ZMIZ1 57178 broad.mit.edu 37 10 81072446 81072446 + Frame_Shift_Del DEL C C - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr10:81072446delC ENST00000334512.5 + 25 3716 c.3144delC c.(3142-3144)gafs p.D1048fs ZMIZ1_ENST00000446377.2_Frame_Shift_Del_p.D114fs NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 1048 transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) CTTATCTGGACCCCCCCGACC 0.557 15 1258 --- --- --- --- SCD 6319 broad.mit.edu 37 10 102107836 102107838 + In_Frame_Del DEL ACC ACC - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr10:102107836_102107838delACC ENST00000370355.2 + 2 424_426 c.43_45delACC c.(43-45)del p.T19del NM_005063.4 NP_005054.3 O00767 ACOD_HUMAN stearoyl-CoA desaturase (delta-9-desaturase) 19 fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane iron ion binding|stearoyl-CoA 9-desaturase activity endometrium(1)|large_intestine(3)|lung(5) 9 Colorectal(252;0.0323) Epithelial(162;1.97e-10)|all cancers(201;1.73e-08) TAGCTCCTATACCACCACCACCA 0.581 11 762 --- --- --- --- LINC00959 0 broad.mit.edu 37 10 131905960 131905960 + RNA DEL G G - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr10:131905960delG ENST00000456581.1 - 0 114 TTTGCCTCCAGGGGGGGAAGG 0.532 7 407 --- --- --- --- PHRF1 57661 broad.mit.edu 37 11 592586 592588 + In_Frame_Del DEL GAG GAG - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr11:592586_592588delGAG ENST00000264555.5 + 6 660_662 c.532_534delGAG c.(532-534)del p.E181del PHRF1_ENST00000533464.1_In_Frame_Del_p.E177del|PHRF1_ENST00000416188.2_In_Frame_Del_p.E181del|PHRF1_ENST00000413872.2_In_Frame_Del_p.E180del NM_020901.2 NP_065952.2 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 181 Poly-Glu. RNA polymerase binding|zinc ion binding breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2) 28 CAAAGCGAGCGAGGAGGAGGAGG 0.616 8 737 --- --- --- --- TSPAN4 0 broad.mit.edu 37 11 864443 864445 + In_Frame_Del DEL CTG CTG - rs61867552 byFrequency TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr11:864443_864445delCTG ENST00000397404.1 + 5 521_523 c.262_264delCTG c.(262-264)del p.L92del TSPAN4_ENST00000409543.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000397396.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000409531.1_In_Frame_Del_p.L111del|TSPAN4_ENST00000525201.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000397408.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000397406.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000346501.4_In_Frame_Del_p.L92del|TSPAN4_ENST00000397411.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000397397.2_In_Frame_Del_p.L92del NM_001025237.1 NP_001020408.1 O14817 TSN4_HUMAN tetraspanin 4 92 protein complex assembly integral to plasma membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1) 3 all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) ACAGTTCTTCCTGCTGCTGCTGC 0.650 12 540 --- --- --- --- AC129929.5 0 broad.mit.edu 37 11 2390549 2390550 + RNA INS - - A rs143770432 by1000genomes TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr11:2390549_2390550insA ENST00000413483.1 - 0 407 GGGAACTATTTCTGTCCTGAAA 0.634 7 7 --- --- --- --- OR10A2 341276 broad.mit.edu 37 11 6891253 6891255 + In_Frame_Del DEL TTC TTC - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr11:6891253_6891255delTTC ENST00000307322.4 + 1 330_332 c.268_270delTTC c.(268-270)del p.F94del NM_001004460.1 NP_001004460.1 Q9H208 O10A2_HUMAN olfactory receptor, family 10, subfamily A, member 2 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1) 24 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) TCAGATGTATTTCTTCTTCTTCT 0.517 9 751 --- --- --- --- OR4D6 219983 broad.mit.edu 37 11 59224768 59224768 + Frame_Shift_Del DEL T T - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr11:59224768delT ENST00000300127.2 + 1 358 c.335delT c.(334-336)atfs p.I112fs NM_001004708.1 NP_001004708.1 Q8NGJ1 OR4D6_HUMAN olfactory receptor, family 4, subfamily D, member 6 112 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 34 GGGGCAGATATTTTTTTCCTC 0.483 8 964 --- --- --- --- CPSF7 79869 broad.mit.edu 37 11 61183765 61183767 + In_Frame_Del DEL AGG AGG - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr11:61183765_61183767delAGG ENST00000340437.4 - 6 984_986 c.904_906delCCT c.(904-906)del p.P302del CPSF7_ENST00000394888.4_In_Frame_Del_p.P259del|CPSF7_ENST00000448745.1_In_Frame_Del_p.P250del|CPSF7_ENST00000439958.3_In_Frame_Del_p.P250del NM_024811.3 NP_079087.3 Q8N684 CPSF7_HUMAN cleavage and polyadenylation specific factor 7, 59kDa 259 Pro-rich. mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription mRNA cleavage factor complex nucleotide binding|protein binding|RNA binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 22 AGTGGATACCAGGAGGAGGAGGA 0.611 13 396 --- --- --- --- MYRF 745 broad.mit.edu 37 11 61539013 61539013 + Frame_Shift_Del DEL C C - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr11:61539013delC ENST00000278836.5 + 6 878 c.782delC c.(781-783)tcfs p.S261fs MYRF_ENST00000265460.5_Frame_Shift_Del_p.S252fs|TMEM258_ENST00000535042.1_Intron NM_001127392.1 NP_001120864.1 myelin regulatory factor p.S255fs*74(1) CACTCTGAATCCCCCCCCAGC 0.637 7 714 --- --- --- --- SLC3A2 6520 broad.mit.edu 37 11 62649529 62649529 + Frame_Shift_Del DEL A A - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr11:62649529delA ENST00000377892.1 + 6 1209 c.985delA c.(985-987)aafs p.K331fs SLC3A2_ENST00000536981.1_5'UTR|SLC3A2_ENST00000377889.2_Frame_Shift_Del_p.K238fs|SLC3A2_ENST00000377890.2_Frame_Shift_Del_p.K300fs|SLC3A2_ENST00000377891.2_Frame_Shift_Del_p.K301fs|SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000338663.7_Frame_Shift_Del_p.K199fs|SLC3A2_ENST00000535296.1_Frame_Shift_Del_p.K269fs P08195 4F2_HUMAN solute carrier family 3 (amino acid transporter heavy chain), member 2 300 blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport apical plasma membrane|cell surface|integral to membrane|melanosome calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding p.K331fs*31(1) endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2) 22 GCAATCGGCTAAAAAAAAGAG 0.463 9 449 --- --- --- --- KDM2A 22992 broad.mit.edu 37 11 67018079 67018081 + In_Frame_Del DEL GAG GAG - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr11:67018079_67018081delGAG ENST00000529006.2 + 17 3024_3026 c.2578_2580delGAG c.(2578-2580)del p.E866del KDM2A_ENST00000308783.5_In_Frame_Del_p.E324del|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Intron|KDM2A_ENST00000530342.1_In_Frame_Del_p.E427del NM_012308.2 NP_036440.1 Q9Y2K7 KDM2A_HUMAN lysine (K)-specific demethylase 2A 866 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2) 36 ggaggaggaagaggaggaggagg 0.655 7 125 --- --- --- --- UVRAG 7405 broad.mit.edu 37 11 75694430 75694431 + Splice_Site INS - - A TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr11:75694430_75694431insA ENST00000356136.3 + 8 940_941 c.e8-1 UVRAG_ENST00000531818.1_Splice_Site|UVRAG_ENST00000532130.1_Splice_Site|UVRAG_ENST00000533454.1_Splice_Site|UVRAG_ENST00000528420.1_Splice_Site NM_003369.3 NP_003360.2 Q9P2Y5 UVRAG_HUMAN UV radiation resistance associated DNA repair|positive regulation of autophagy early endosome|late endosome|lysosome protein binding central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2) 32 TATTTATTTAGAAAAAAAAAAG 0.302 23 244 --- --- --- --- PHLDB1 23187 broad.mit.edu 37 11 118514602 118514604 + In_Frame_Del DEL TCC TCC - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr11:118514602_118514604delTCC ENST00000361417.2 + 15 3373_3375 c.2962_2964delTCC c.(2962-2964)del p.S992del PHLDB1_ENST00000527898.1_In_Frame_Del_p.S28del|PHLDB1_ENST00000356063.5_In_Frame_Del_p.S945del|PHLDB1_ENST00000524713.1_In_Frame_Del_p.S135del|PHLDB1_ENST00000534672.1_3'UTR NM_015157.3 NP_055972.1 Q86UU1 PHLB1_HUMAN pleckstrin homology-like domain, family B, member 1 992 breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1) 46 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) ctctggctcttcctcctcctcct 0.650 7 267 --- --- --- --- CHEK1 1111 broad.mit.edu 37 11 125505377 125505378 + Frame_Shift_Ins INS - - A rs35817404 TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr11:125505377_125505378insA ENST00000534070.1 + 7 922_923 c.667_668insA c.(667-669)aaafs p.K223fs CHEK1_ENST00000544373.1_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000438015.1_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000278916.3_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000524737.1_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000427383.2_Frame_Shift_Ins_p.K239fs|CHEK1_ENST00000428830.2_Frame_Shift_Ins_p.K223fs NM_001274.5 NP_001265.2 O14757 CHK1_HUMAN checkpoint kinase 1 223 Protein kinase. E -> V (in dbSNP:rs35817404). cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence condensed nuclear chromosome|microtubule organizing center|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748) TGACTGGAAAGAAAAAAAAACA 0.361 Other conserved DNA damage response genes 31 778 --- --- --- --- SRPR 6734 broad.mit.edu 37 11 126137124 126137124 + Frame_Shift_Del DEL C C - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr11:126137124delC ENST00000332118.6 - 4 626 c.472delG c.(472-474)aafs p.E158fs SRPR_ENST00000532259.1_Frame_Shift_Del_p.E130fs NM_003139.3 NP_003130.2 P08240 SRPR_HUMAN signal recognition particle receptor (docking protein) 158 SRP-dependent cotranslational protein targeting to membrane integral to membrane|signal recognition particle receptor complex GTP binding|GTPase activity|receptor activity|signal recognition particle binding endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1) 21 all_hematologic(175;0.145) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736) TTGGGCTTTTCCCCCCGTGTC 0.443 7 1278 --- --- --- --- LINC00987 0 broad.mit.edu 37 12 9392739 9392740 + RNA INS - - TCTTCCTCCTCC rs71045240 TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr12:9392739_9392740insTCTTCCTCCTCC ENST00000427111.3 + 0 141_142 NR_036466.1 caccatcaccttcttcctcccc 0.545 7 20 --- --- --- --- TAS2R50 259296 broad.mit.edu 37 12 11139432 11139432 + Frame_Shift_Del DEL A A - rs79147066 TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr12:11139432delA ENST00000506868.1 - 1 79 c.28delT c.(28-30)cafs p.S10fs TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron NM_176890.2 NP_795371.2 P59544 T2R50_HUMAN taste receptor, type 2, member 50 10 sensory perception of taste integral to membrane G-protein coupled receptor activity p.S10fs*3(2)|p.S10fs*25(1) haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1) 17 ATTAGAATTGAAAAAAAAATG 0.318 12 297 --- --- --- --- PDE3A 5139 broad.mit.edu 37 12 20833140 20833142 + In_Frame_Del DEL GAA GAA - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr12:20833140_20833142delGAA ENST00000359062.3 + 16 3401_3403 c.3361_3363delGAA c.(3361-3363)del p.E1125del PDE3A_ENST00000544307.1_3'UTR NM_000921.4|NM_001244683.1 NP_000912.3|NP_001231612.1 Q14432 PDE3A_HUMAN phosphodiesterase 3A, cGMP-inhibited 1125 Poly-Glu. lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) GGCTATCAAGGAAGAAGAAGAAG 0.478 7 630 --- --- --- --- FAM60A 58516 broad.mit.edu 37 12 31448178 31448178 + Frame_Shift_Del DEL T T - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr12:31448178delT ENST00000337682.4 - 3 586 c.218delA c.(217-219)acfs p.N73fs FAM60A_ENST00000395766.1_5'UTR|FAM60A_ENST00000454658.2_Frame_Shift_Del_p.N73fs|FAM60A_ENST00000539409.1_Intron|FAM60A_ENST00000542983.1_5'UTR NM_001135812.1 NP_001129284.1 Q9NP50 FA60A_HUMAN family with sequence similarity 60, member A 73 large_intestine(1)|lung(2) 3 all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162) ATGATTCCAGTTTTTTTTTGA 0.358 9 190 --- --- --- --- PRICKLE1 0 broad.mit.edu 37 12 42853801 42853803 + In_Frame_Del DEL GAG GAG - rs35854729 byFrequency TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr12:42853801_42853803delGAG ENST00000455697.1 - 8 2589_2591 c.2304_2306delCTC c.(2302-2307)tct>tc p.SS768del RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000445766.2_In_Frame_Del_p.SS768del|PRICKLE1_ENST00000345127.3_In_Frame_Del_p.SS768del|PRICKLE1_ENST00000548696.1_In_Frame_Del_p.SS768del|PRICKLE1_ENST00000552240.1_In_Frame_Del_p.SS768del NM_001144882.1|NM_001144883.1 NP_001138354.1|NP_001138355.1 Q96MT3 PRIC1_HUMAN prickle homolog 1 (Drosophila) 768 Ser-rich. negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus cytosol|nuclear membrane zinc ion binding p.S769F(1) NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 all_cancers(12;4.25e-05)|Breast(8;0.176) GBM - Glioblastoma multiforme(48;0.2) CGAGTCGGAAGAGGAGGAGGAGG 0.507 7 799 --- --- --- --- SCAF11 9169 broad.mit.edu 37 12 46318575 46318577 + In_Frame_Del DEL GGT GGT - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr12:46318575_46318577delGGT ENST00000465950.1 - 2 4104_4106 c.2895_2897delACC c.(2893-2898)ccc>cc p.PP969del SCAF11_ENST00000549162.1_In_Frame_Del_p.PP1092del|SCAF11_ENST00000419565.2_In_Frame_Del_p.PP1284del|SCAF11_ENST00000369367.3_In_Frame_Del_p.PP1284del Q99590 SCAFB_HUMAN SR-related CTD-associated factor 11 1284 Arg-rich. spliceosome assembly nucleus protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 69 TGGGGGAGGGGGTGGTGGTGGTG 0.483 8 700 --- --- --- --- KMT2D 8085 broad.mit.edu 37 12 49433772 49433773 + Frame_Shift_Ins INS - - G rs35050033 TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr12:49433772_49433773insG ENST00000301067.7 - 31 7779_7780 c.7780_7781insC c.(7780-7782)gggfs p.G2594fs NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D GCTGGGCCCCAGGGGGCTGCCC 0.649 14 99 --- --- --- --- TUBA1C 84790 broad.mit.edu 37 12 49663412 49663413 + Frame_Shift_Del DEL GG GG - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr12:49663412_49663413delGG ENST00000301072.6 + 2 443_444 c.168_169delGG c.(166-171)acgtfs p.TG56fs RP11-161H23.5_ENST00000550468.2_RNA|TUBA1C_ENST00000541364.1_Frame_Shift_Del_p.TG126fs|TUBA1C_ENST00000549183.1_Frame_Shift_Del_p.TG56fs NM_032704.3 NP_116093.1 Q9BQE3 TBA1C_HUMAN tubulin, alpha 1c 56 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity endometrium(1)|large_intestine(3)|liver(1)|lung(7)|skin(1) 13 TCAGTGAAACGGGTGCTGGCAA 0.550 67 855 --- --- --- --- OR10A7 121364 broad.mit.edu 37 12 55615114 55615116 + In_Frame_Del DEL CTT CTT - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr12:55615114_55615116delCTT ENST00000326258.1 + 1 306_308 c.306_308delCTT c.(304-309)tac>ta p.YF102del NM_001005280.1 NP_001005280.1 Q8NGE5 O10A7_HUMAN olfactory receptor, family 10, subfamily A, member 7 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3) 24 CCCAGATGTACTTCTTCTTCTTC 0.414 7 1088 --- --- --- --- SMARCC2 6601 broad.mit.edu 37 12 56558379 56558381 + In_Frame_Del DEL AGG AGG - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr12:56558379_56558381delAGG ENST00000550164.1 - 28 3381_3383 c.3367_3369delCCT c.(3367-3369)del p.P1123del SMARCC2_ENST00000347471.4_Intron|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_In_Frame_Del_p.P1092del|SMARCC2_ENST00000394023.3_Intron Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 1092 Pro-rich. HGHHHHLPFA -> MGSPPSPVR (in Ref. 1; AAC50694). chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) TGGATGGAGCAGGAGGAGGAGGA 0.591 11 235 --- --- --- --- SLC39A5 283375 broad.mit.edu 37 12 56628997 56628999 + In_Frame_Del DEL CTG CTG - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr12:56628997_56628999delCTG ENST00000266980.4 + 5 984_986 c.691_693delCTG c.(691-693)del p.L234del SLC39A5_ENST00000454355.2_In_Frame_Del_p.L234del NM_001135195.1 NP_001128667.1 Q6ZMH5 S39A5_HUMAN solute carrier family 39 (zinc transporter), member 5 234 zinc ion transport basolateral plasma membrane|integral to membrane metal ion transmembrane transporter activity NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TCCCCTATCCCTGCTGCTGCTGC 0.635 8 1007 --- --- --- --- CCDC63 160762 broad.mit.edu 37 12 111311658 111311659 + Frame_Shift_Ins INS - - A TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr12:111311658_111311659insA ENST00000308208.5 + 5 624_625 c.382_383insA c.(382-384)aaafs p.K128fs CCDC63_ENST00000552694.1_Frame_Shift_Ins_p.K49fs|CCDC63_ENST00000550317.1_3'UTR|CCDC63_ENST00000545036.1_Frame_Shift_Ins_p.K88fs NM_152591.1 NP_689804.1 Q8NA47 CCD63_HUMAN coiled-coil domain containing 63 128 NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1) 39 TCTTCAGATGGAAAAAAAAATC 0.416 7 363 --- --- --- --- POP5 51367 broad.mit.edu 37 12 121017154 121017156 + In_Frame_Del DEL CTC CTC - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr12:121017154_121017156delCTC ENST00000341039.2 - 4 323_325 c.307_309delGAG c.(307-309)del p.E103del POP5_ENST00000357500.4_In_Frame_Del_p.E153del|POP5_ENST00000542776.1_5'UTR NM_198202.1 NP_937845.1 Q969H6 POP5_HUMAN processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae) 153 tRNA processing protein binding|ribonuclease P activity breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 7 all_neural(191;0.077)|Medulloblastoma(191;0.0922) CCTCACCTGACTCCTCCTCCTCC 0.517 8 677 --- --- --- --- EP400 57634 broad.mit.edu 37 12 132445261 132445262 + Frame_Shift_Del DEL AA AA - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr12:132445261_132445262delAA ENST00000333577.4 + 2 206_207 c.97_98delAA c.(97-99)cfs p.N33fs EP400_ENST00000389561.2_Frame_Shift_Del_p.N33fs|EP400_ENST00000330386.6_Frame_Shift_Del_p.N33fs|EP400_ENST00000332482.4_Frame_Shift_Del_p.N33fs|EP400_ENST00000389562.2_Frame_Shift_Del_p.N33fs Q96L91 EP400_HUMAN E1A binding protein p400 33 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) GGCCCACCCCAACCCACCCCCG 0.653 7 93 --- --- --- --- TPTE2 93492 broad.mit.edu 37 13 20041394 20041394 + Frame_Shift_Del DEL A A - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr13:20041394delA ENST00000400230.2 - 7 527 c.483delT c.(481-483)ttfs p.F161fs TPTE2_ENST00000382975.4_Intron|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382977.4_Frame_Shift_Del_p.F161fs|TPTE2_ENST00000382978.1_Intron Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 161 endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) ACTTAATGTCAAAAAAAATGT 0.303 14 402 --- --- --- --- TSC22D1 8848 broad.mit.edu 37 13 45148691 45148693 + In_Frame_Del DEL TGT TGT - rs148625973 TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr13:45148691_45148693delTGT ENST00000458659.2 - 1 2008_2010 c.1518_1520delACA c.(1516-1521)cag>ca p.QQ508del TSC22D1_ENST00000501704.2_In_Frame_Del_p.QQ508del NM_183422.3 NP_904358.2 Q15714 T22D1_HUMAN TSC22 domain family, member 1 508 Gln-rich. transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118) TGgttgttgctgttgttgttgtt 0.502 9 706 --- --- --- --- SLITRK5 26050 broad.mit.edu 37 13 88329794 88329796 + In_Frame_Del DEL CGG CGG - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr13:88329794_88329796delCGG ENST00000325089.6 + 2 2370_2372 c.2151_2153delCGG c.(2149-2154)tac>ta p.YG717del SLITRK5_ENST00000400028.3_In_Frame_Del_p.YG476del NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 717 integral to membrane breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) ACAGCGTGTACGGCGGCGGCGGC 0.645 7 405 --- --- --- --- IL25 0 broad.mit.edu 37 14 23845057 23845058 + Frame_Shift_Del DEL TG TG - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr14:23845057_23845058delTG ENST00000329715.2 + 2 760_761 c.502_503delTG c.(502-504)tfs p.C168fs IL25_ENST00000397242.2_Frame_Shift_Del_p.C152fs NM_022789.3 NP_073626.1 Q9H293 IL25_HUMAN interleukin 25 168 inflammatory response extracellular space|membrane cytokine activity|interleukin-17E receptor binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 9 all_cancers(95;2e-05) GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396) TTCCTTAGCTTGTGTGTGTGTG 0.604 8 577 --- --- --- --- G2E3 55632 broad.mit.edu 37 14 31074771 31074772 + Frame_Shift_Ins INS - - A TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr14:31074771_31074772insA ENST00000206595.6 + 11 1225_1226 c.1071_1072insA c.(1069-1074)ataaaafs p.IK357fs G2E3_ENST00000544007.1_Intron|G2E3_ENST00000438909.2_Frame_Shift_Ins_p.IK311fs|G2E3_ENST00000553504.1_Frame_Shift_Ins_p.IK387fs NM_017769.3 NP_060239.2 Q7L622 G2E3_HUMAN G2/M-phase specific E3 ubiquitin protein ligase 357 apoptosis|multicellular organismal development|protein modification process Golgi apparatus|nucleolus acid-amino acid ligase activity|protein binding|zinc ion binding endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 GATTCCAAATTAAAAAAAAAAC 0.272 9 139 --- --- --- --- FANCM 57697 broad.mit.edu 37 14 45642288 45642289 + Frame_Shift_Del DEL CT CT - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr14:45642288_45642289delCT ENST00000267430.5 + 13 2276_2277 c.2191_2192delCT c.(2191-2193)cfs p.L731fs FANCM_ENST00000542564.2_Frame_Shift_Del_p.L705fs NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 731 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 AATTCATCAACTCTCTCTCTCT 0.347 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 7 443 --- --- --- --- PTPN21 11099 broad.mit.edu 37 14 88940113 88940113 + Frame_Shift_Del DEL T T - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr14:88940113delT ENST00000556564.1 - 14 2829 c.2545delA c.(2545-2547)ttfs p.I849fs PTPN21_ENST00000328736.3_Frame_Shift_Del_p.I849fs NM_007039.3 NP_008970.2 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type 21 849 cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 AGAGGACCAATTTTTTTTGCA 0.393 7 541 --- --- --- --- FOXN3 1112 broad.mit.edu 37 14 89629149 89629151 + In_Frame_Del DEL GAG GAG - rs139532153 TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr14:89629149_89629151delGAG ENST00000345097.4 - 7 1196_1198 c.1080_1082delCTC c.(1078-1083)tca>tc p.SS360del FOXN3_ENST00000557258.1_In_Frame_Del_p.SS338del|FOXN3_ENST00000261302.5_In_Frame_Del_p.SS360del|FOXN3_ENST00000555353.1_In_Frame_Del_p.SS338del NM_001085471.1 NP_001078940.1 O00409 FOXN3_HUMAN forkhead box N3 360 DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GTCGTCGGCTGAGGAGGAGGAGG 0.650 13 178 --- --- --- --- SYNE3 161176 broad.mit.edu 37 14 95921888 95921890 + In_Frame_Del DEL CTC CTC - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr14:95921888_95921890delCTC ENST00000334258.5 - 5 975_977 c.961_963delGAG c.(961-963)del p.E321del SYNE3_ENST00000553340.1_In_Frame_Del_p.E321del|SYNE3_ENST00000557275.1_In_Frame_Del_p.E321del|SYNE3_ENST00000554873.1_In_Frame_Del_p.E78del NM_152592.3 NP_689805.3 spectrin repeat containing, nuclear envelope family member 3 breast(1)|endometrium(2)|lung(25) 28 CCCGCAGCCGCTCCTCCTCCTCC 0.616 9 648 --- --- --- --- MOK 5891 broad.mit.edu 37 14 102718303 102718303 + Frame_Shift_Del DEL T T - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr14:102718303delT ENST00000361847.2 - 5 544 c.313delA c.(313-315)ttfs p.I105fs MOK_ENST00000522874.1_Frame_Shift_Del_p.I105fs|MOK_ENST00000524214.1_Frame_Shift_Del_p.I75fs|MOK_ENST00000193029.6_5'UTR NM_014226.1 NP_055041.1 Q9UQ07 MOK_HUMAN MOK protein kinase 105 Protein kinase. signal transduction Golgi apparatus ATP binding|cyclin-dependent protein kinase activity|protein binding TAGTGCATAATTTTTTTTTCT 0.323 10 486 --- --- --- --- SNHG14 0 broad.mit.edu 37 15 25337049 25337050 + RNA DEL GA GA - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr15:25337049_25337050delGA ENST00000546682.1 + 0 969 SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000549804.2_RNA NR_003361.1 ACTGGAGCTGGAGAGAGAGAGA 0.500 8 564 --- --- --- --- EMC7 56851 broad.mit.edu 37 15 34393991 34393993 + In_Frame_Del DEL AGC AGC - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr15:34393991_34393993delAGC ENST00000256545.4 - 1 156_158 c.48_50delGCT c.(46-51)cta>ct p.LL16del EMC7_ENST00000532113.1_5'UTR NM_020154.2 NP_064539.1 ER membrane protein complex subunit 7 ATCCCCCGATAGCAGCAGCAGCA 0.665 7 727 --- --- --- --- PLA2G4F 255189 broad.mit.edu 37 15 42439919 42439920 + Frame_Shift_Ins INS - - C rs139732075 by1000genomes TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr15:42439919_42439920insC ENST00000397272.3 - 12 1197_1198 c.1106_1107insG c.(1105-1107)cgcfs p.R369fs PLA2G4F_ENST00000382396.4_Frame_Shift_Ins_p.R367fs NM_213600.3 NP_998765.3 Q68DD2 PA24F_HUMAN phospholipase A2, group IVF 367 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) AAGACATGGCTCGGGTTCCACC 0.554 7 483 --- --- --- --- TTBK2 146057 broad.mit.edu 37 15 43038023 43038024 + Frame_Shift_Ins INS - - T TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr15:43038023_43038024insT ENST00000267890.6 - 15 3812_3813 c.3704_3705insA c.(3703-3705)aagfs p.K1235fs NM_173500.3 NP_775771.3 Q6IQ55 TTBK2_HUMAN tau tubulin kinase 2 1235 cell death ATP binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 43 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) CTGGCTTACTCTTCCCTTGGGG 0.535 20 922 --- --- --- --- TTBK2 146057 broad.mit.edu 37 15 43038025 43038026 + Frame_Shift_Ins INS - - C TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr15:43038025_43038026insC ENST00000267890.6 - 15 3810_3811 c.3702_3703insG c.(3700-3705)ggagagfs p.E1235fs NM_173500.3 NP_775771.3 Q6IQ55 TTBK2_HUMAN tau tubulin kinase 2 1235 cell death ATP binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 43 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) GGCTTACTCTTCCCTTGGGGGG 0.540 8 950 --- --- --- --- ARID3B 10620 broad.mit.edu 37 15 74888025 74888027 + In_Frame_Del DEL CAG CAG - rs141710149 TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr15:74888025_74888027delCAG ENST00000346246.5 + 9 1824_1826 c.1593_1595delCAG c.(1591-1596)gcc>gc p.AS531del NM_006465.2 NP_006456.1 Q8IVW6 ARI3B_HUMAN AT rich interactive domain 3B (BRIGHT-like) 532 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2) 14 gcagcagcgccagcagcagcagc 0.640 8 197 --- --- --- --- VPS33B 26276 broad.mit.edu 37 15 91550236 91550238 + In_Frame_Del DEL TCC TCC - rs147271815 TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr15:91550236_91550238delTCC ENST00000333371.3 - 9 995_997 c.642_644delGGA c.(640-645)gat>ga p.ED214del VPS33B_ENST00000535843.1_In_Frame_Del_p.ED123del|VPS33B_ENST00000535906.1_In_Frame_Del_p.ED187del NM_018668.3 NP_061138.3 Q9H267 VP33B_HUMAN vacuolar protein sorting 33 homolog B (yeast) 214 cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule protein binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2) 16 Lung NSC(78;0.0987)|all_lung(78;0.175) GGTTTCGCCATCCTCCTCCTCCT 0.522 14 804 --- --- --- --- RP11-266O8.1 0 broad.mit.edu 37 15 93974510 93974510 + RNA DEL C C - rs57286078 TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr15:93974510delC ENST00000543286.1 + 0 545 TGGCTGGGTTCtttttttttt 0.433 7 118 --- --- --- --- ABCA3 21 broad.mit.edu 37 16 2373622 2373622 + Frame_Shift_Del DEL A A - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr16:2373622delA ENST00000301732.5 - 7 1215 c.515delT c.(514-516)tcfs p.F172fs ABCA3_ENST00000567910.1_Frame_Shift_Del_p.F172fs|ABCA3_ENST00000382381.3_Frame_Shift_Del_p.F172fs NM_001089.2 NP_001080.2 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A (ABC1), member 3 172 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) CTCTTTCAGGAAAAAGGAGCC 0.493 7 2450 --- --- --- --- RSL1D1 26156 broad.mit.edu 37 16 11931770 11931770 + Frame_Shift_Del DEL T T - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr16:11931770delT ENST00000571133.1 - 9 1419 c.1347delA c.(1345-1347)aafs p.K449fs RSL1D1_ENST00000542106.1_Frame_Shift_Del_p.K229fs NM_015659.2 NP_056474.2 O76021 RL1D1_HUMAN ribosomal L1 domain containing 1 449 regulation of protein localization|translation large ribosomal subunit|nucleolus protein binding|RNA binding|structural constituent of ribosome NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2) 15 gtctcgcatcttttttcccca 0.463 7 1769 --- --- --- --- C16orf62 57020 broad.mit.edu 37 16 19580800 19580802 + In_Frame_Del DEL TCC TCC - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr16:19580800_19580802delTCC ENST00000438132.3 + 3 487_489 c.439_441delTCC c.(439-441)del p.S153del C16orf62_ENST00000538853.1_In_Frame_Del_p.S153del|C16orf62_ENST00000542263.1_In_Frame_Del_p.S153del|C16orf62_ENST00000417362.2_In_Frame_Del_p.S64del|C16orf62_ENST00000251143.5_In_Frame_Del_p.S64del NM_020314.5 NP_064710.4 Q7Z3J2 CP062_HUMAN chromosome 16 open reading frame 62 64 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 36 TTCTTCCACGTCCTCCTCCTCCT 0.562 13 346 --- --- --- --- IL4R 3566 broad.mit.edu 37 16 27373787 27373789 + In_Frame_Del DEL GAG GAG - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr16:27373787_27373789delGAG ENST00000395762.2 + 11 1373_1375 c.1114_1116delGAG c.(1114-1116)del p.E376del IL4R_ENST00000170630.2_In_Frame_Del_p.E376del|IL4R_ENST00000543915.2_In_Frame_Del_p.E376del|IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000380922.3_In_Frame_Del_p.E361del NM_000418.3 NP_000409.1 P24394 IL4RA_HUMAN interleukin 4 receptor 376 Poly-Glu. immune response|production of molecular mediator involved in inflammatory response integral to plasma membrane identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 33 GGTGGAGTGTGAGGAGGAGGAGG 0.591 8 359 --- --- --- --- EIF3C 8663 broad.mit.edu 37 16 28734579 28734581 + In_Frame_Del DEL GAG GAG - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr16:28734579_28734581delGAG ENST00000331666.6 + 9 1057_1059 c.871_873delGAG c.(871-873)del p.E294del EIF3C_ENST00000566501.1_In_Frame_Del_p.E294del|EIF3C_ENST00000566866.1_In_Frame_Del_p.E294del|EIF3C_ENST00000564243.1_In_Frame_Del_p.E284del|EIF3C_ENST00000395587.1_In_Frame_Del_p.E294del Q99613 EIF3C_HUMAN eukaryotic translation initiation factor 3, subunit C 294 Poly-Glu. cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity lung(5)|skin(1) 6 GCGCCTGGATGAGGAGGAGGAGG 0.562 16 3809 --- --- --- --- TAOK2 9344 broad.mit.edu 37 16 29998498 29998500 + In_Frame_Del DEL CTG CTG - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr16:29998498_29998500delCTG ENST00000308893.4 + 16 3948_3950 c.2905_2907delCTG c.(2905-2907)del p.L974del TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000543033.1_In_Frame_Del_p.L861del|TAOK2_ENST00000416441.2_In_Frame_Del_p.L801del NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 974 Leu-rich. actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 CCTGCCCCTCCTGCTGCTGCTGC 0.709 8 410 --- --- --- --- CD2BP2 10421 broad.mit.edu 37 16 30365550 30365552 + In_Frame_Del DEL CAT CAT - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr16:30365550_30365552delCAT ENST00000305596.3 - 3 345_347 c.170_172delATG c.(169-174)ggg>g p.DG57del CD2BP2_ENST00000569466.1_In_Frame_Del_p.DG57del NM_006110.2 NP_006101.1 O95400 CD2B2_HUMAN CD2 (cytoplasmic tail) binding protein 2 57 assembly of spliceosomal tri-snRNP cytoplasm|nucleoplasm|U5 snRNP protein binding|ribonucleoprotein binding breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1) 15 CTGGACCCCCCATCATCATCATC 0.532 8 1666 --- --- --- --- SETD1A 9739 broad.mit.edu 37 16 30982809 30982811 + In_Frame_Del DEL TCC TCC - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr16:30982809_30982811delTCC ENST00000262519.8 + 13 3813_3815 c.3127_3129delTCC c.(3127-3129)del p.S1058del NM_014712.1 NP_055527.1 O15047 SET1A_HUMAN SET domain containing 1A 1058 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 59 CAGctcctcatcctcctcctcct 0.547 18 365 --- --- --- --- COQ9 57017 broad.mit.edu 37 16 57486732 57486734 + In_Frame_Del DEL GAG GAG - rs149029279 TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr16:57486732_57486734delGAG ENST00000262507.6 + 3 331_333 c.262_264delGAG c.(262-264)del p.E91del COQ9_ENST00000567933.1_In_Frame_Del_p.E91del|COQ9_ENST00000567072.1_In_Frame_Del_p.E91del|COQ9_ENST00000567384.1_3'UTR NM_020312.3 NP_064708.1 O75208 COQ9_HUMAN coenzyme Q9 91 ubiquinone biosynthetic process mitochondrion breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1) 16 CCAGGGCGGCGAGGAGGAGGAGG 0.576 11 728 --- --- --- --- CMTM1 113540 broad.mit.edu 37 16 66603929 66603930 + Frame_Shift_Ins INS - - T TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr16:66603929_66603930insT ENST00000379500.2 + 2 590_591 c.523_524insT c.(523-525)tttfs p.F175fs CMTM1_ENST00000457188.2_Frame_Shift_Ins_p.F58fs|CMTM1_ENST00000533953.1_Intron|CKLF-CMTM1_ENST00000527729.1_Intron|CMTM1_ENST00000528324.1_Frame_Shift_Ins_p.F58fs|CMTM1_ENST00000535705.1_Intron|CMTM1_ENST00000531885.1_Intron|CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000332695.7_Intron|CMTM1_ENST00000336328.6_Intron|CMTM1_ENST00000328020.6_Frame_Shift_Ins_p.F175fs NM_052999.3|NM_181268.2 NP_443725.3|NP_851785.2 Q8IZ96 CKLF1_HUMAN CKLF-like MARVEL transmembrane domain containing 1 58 chemotaxis extracellular space|integral to membrane cytokine activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2) 7 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222) CTGCATTGTCGTTTTTTTTATT 0.347 8 890 --- --- --- --- SLC9A5 6553 broad.mit.edu 37 16 67300017 67300019 + In_Frame_Del DEL GAG GAG - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr16:67300017_67300019delGAG ENST00000299798.11 + 15 2172_2174 c.2107_2109delGAG c.(2107-2109)del p.E708del NM_004594.2 NP_004585.1 Q14940 SL9A5_HUMAN solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5 708 regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) CGTGGAGTCTGAGGAGGAGGAGG 0.571 22 385 --- --- --- --- RANBP10 57610 broad.mit.edu 37 16 67763279 67763281 + In_Frame_Del DEL GAG GAG - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr16:67763279_67763281delGAG ENST00000317506.3 - 10 1369_1371 c.1254_1256delCTC c.(1252-1257)tcg>tc p.SS420del RANBP10_ENST00000411657.2_In_Frame_Del_p.SS303del|RANBP10_ENST00000536251.1_In_Frame_Del_p.SS191del|RANBP10_ENST00000602677.1_In_Frame_Del_p.SS420del|RANBP10_ENST00000448631.2_In_Frame_Del_p.SS364del NM_020850.1 NP_065901.1 Q6VN20 RBP10_HUMAN RAN binding protein 10 420 Ser-rich. p.S418S(2) endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1) 23 Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157) ggaagaggacgaggaggaggagg 0.567 8 232 --- --- --- --- PKD1L2 114780 broad.mit.edu 37 16 81201441 81201441 + RNA DEL G G - rs35726804 TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr16:81201441delG ENST00000525539.1 - 0 3093 PKD1L2_ENST00000533478.1_RNA NM_052892.3 NP_443124.3 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 tctgcaagatggggggggaaa 0.567 7 8 --- --- --- --- FXR2 9513 broad.mit.edu 37 17 7495872 7495874 + In_Frame_Del DEL CGG CGG - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr17:7495872_7495874delCGG ENST00000250113.7 - 15 2107_2109 c.1773_1775delCCG c.(1771-1776)cgt>cg p.RR591del MPDU1_ENST00000423172.2_3'UTR NM_004860.3 NP_004851.2 P51116 FXR2_HUMAN fragile X mental retardation, autosomal homolog 2 591 Poly-Arg. R -> P (in dbSNP:rs36013555). cytosolic large ribosomal subunit protein binding|RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1) 26 READ - Rectum adenocarcinoma(115;0.17) ACCACGGTTACGGCGGCGGCGGC 0.547 18 1194 --- --- --- --- WRAP53 55135 broad.mit.edu 37 17 7606714 7606715 + Frame_Shift_Ins INS - - G rs146634933 TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr17:7606714_7606715insG ENST00000316024.5 + 10 3905_3906 c.1557_1558insG c.(1555-1560)tgggggfs p.WG519fs WRAP53_ENST00000534050.1_Frame_Shift_Ins_p.WG486fs|WRAP53_ENST00000396463.2_Frame_Shift_Ins_p.WG519fs|WRAP53_ENST00000431639.2_Frame_Shift_Ins_p.WG519fs|WRAP53_ENST00000457584.2_Frame_Shift_Ins_p.WG519fs Q9BUR4 WAP53_HUMAN WD repeat containing, antisense to TP53 519 positive regulation of telomerase activity|telomere formation via telomerase Cajal body|cytoplasm|telomerase holoenzyme complex protein binding|RNA binding endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2) 18 TCTGGTGGTGTGGGGGGGCGCC 0.599 7 358 --- --- --- --- CHD3 1107 broad.mit.edu 37 17 7796803 7796804 + Frame_Shift_Ins INS - - C TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr17:7796803_7796804insC ENST00000380358.4 + 5 887_888 c.886_887insC c.(886-888)cggfs p.R296fs CHD3_ENST00000330494.7_Frame_Shift_Ins_p.R237fs|CHD3_ENST00000358181.4_Frame_Shift_Ins_p.R237fs NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 237 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) CATAGCACCCTCCGGACCCCCC 0.653 10 186 --- --- --- --- CHD3 1107 broad.mit.edu 37 17 7801857 7801859 + In_Frame_Del DEL AAG AAG - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr17:7801857_7801859delAAG ENST00000380358.4 + 13 2273_2275 c.2272_2274delAAG c.(2272-2274)del p.K762del CHD3_ENST00000330494.7_In_Frame_Del_p.K703del|CHD3_ENST00000358181.4_In_Frame_Del_p.K703del NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 703 Helicase ATP-binding. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) CCGCAAGTATAAGAAGAAGAAGA 0.488 10 316 --- --- --- --- AC005863.1 0 broad.mit.edu 37 17 14673542 14673543 + RNA INS - - T TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr17:14673542_14673543insT ENST00000379640.1 - 0 354_355 GCTGGTCCCAGTTTTTTTTTCT 0.450 10 248 --- --- --- --- SUPT6H 6830 broad.mit.edu 37 17 27001303 27001305 + In_Frame_Del DEL GAG GAG - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr17:27001303_27001305delGAG ENST00000314616.6 + 3 395_397 c.112_114delGAG c.(112-114)del p.E43del SUPT6H_ENST00000347486.4_In_Frame_Del_p.E43del NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 43 Asp/Glu-rich. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) TCTTCCAGATGAGGAGGAGGAGG 0.453 8 256 --- --- --- --- ZNF207 7756 broad.mit.edu 37 17 30677314 30677316 + In_Frame_Del DEL AAG AAG - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr17:30677314_30677316delAAG ENST00000394670.4 + 1 179_181 c.10_12delAAG c.(10-12)del p.K7del RP11-227G15.3_ENST00000581915.1_RNA|ZNF207_ENST00000342555.6_5'UTR|ZNF207_ENST00000577908.1_In_Frame_Del_p.K7del|ZNF207_ENST00000394673.2_In_Frame_Del_p.K7del|ZNF207_ENST00000321233.6_In_Frame_Del_p.K7del|ZNF207_ENST00000341711.6_In_Frame_Del_p.K7del NM_001098507.1 NP_001091977.1 O43670 ZN207_HUMAN zinc finger protein 207 7 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2) 10 Breast(31;0.116)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.239) TATGGGTCGCAAGAAGAAGAAGC 0.542 9 910 --- --- --- --- SLFN12 55106 broad.mit.edu 37 17 33749493 33749493 + Frame_Shift_Del DEL A A - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr17:33749493delA ENST00000394562.1 - 4 1078 c.555delT c.(553-555)ttfs p.F185fs SLFN12_ENST00000452764.3_Frame_Shift_Del_p.F185fs|SLFN12_ENST00000304905.5_Frame_Shift_Del_p.F185fs Q8IYM2 SLN12_HUMAN schlafen family member 12 185 ATP binding breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CTGTTCTATCAAAAAAAACCC 0.368 8 551 --- --- --- --- GAS2L2 246176 broad.mit.edu 37 17 34071994 34071996 + In_Frame_Del DEL TCC TCC - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr17:34071994_34071996delTCC ENST00000254466.6 - 6 2547_2549 c.2520_2522delGGA c.(2518-2523)gaa>ga p.EE840del GAS2L2_ENST00000587565.1_In_Frame_Del_p.EE824del NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 840 cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) ctcctttccttcctcctcctcct 0.616 8 374 --- --- --- --- KRT10 3858 broad.mit.edu 37 17 38978766 38978768 + In_Frame_Del DEL TCC TCC - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr17:38978766_38978768delTCC ENST00000269576.5 - 1 79_81 c.70_72delGGA c.(70-72)del p.G24del TMEM99_ENST00000496847.1_Intron|TMEM99_ENST00000301665.3_Intron NM_000421.3 NP_000412.3 P13645 K1C10_HUMAN keratin 10 24 Gly-rich.|Head. Missing (in Ref. 1; AAA60544). epidermis development protein binding|structural constituent of epidermis NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(137;0.000301) ctcctccacatcctcctcctcct 0.547 20 193 --- --- --- --- HOXB2 3212 broad.mit.edu 37 17 46622130 46622132 + In_Frame_Del DEL AGG AGG - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr17:46622130_46622132delAGG ENST00000330070.4 - 1 1309_1311 c.142_144delCCT c.(142-144)del p.P48del HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000504972.3_RNA NM_002145.3 NP_002136.1 P14652 HXB2_HUMAN homeobox B2 48 blood circulation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 11 TTTGCTCGAAAGGAGGAGGAGGA 0.596 10 889 --- --- --- --- XYLT2 64132 broad.mit.edu 37 17 48433967 48433967 + Frame_Shift_Del DEL C C - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr17:48433967delC ENST00000017003.2 + 8 1627 c.1578delC c.(1576-1578)tafs p.Y526fs XYLT2_ENST00000507602.1_Frame_Shift_Del_p.Y526fs NM_022167.2 NP_071450.2 Q9H1B5 XYLT2_HUMAN xylosyltransferase II 526 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity p.G529fs*17(1) endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1) 12 Breast(11;7.18e-19) ATGGCAGCTACCCCCCCGGCA 0.602 9 798 --- --- --- --- SPAG9 9043 broad.mit.edu 37 17 49157025 49157025 + Frame_Shift_Del DEL T T - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr17:49157025delT ENST00000262013.7 - 2 552 c.344delA c.(343-345)agfs p.K115fs RP11-481C4.1_ENST00000509833.1_RNA|SPAG9_ENST00000505279.1_Frame_Shift_Del_p.K115fs|SPAG9_ENST00000357122.4_Frame_Shift_Del_p.K115fs NM_001130528.2 NP_001124000.1 O60271 JIP4_HUMAN sperm associated antigen 9 115 positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 BRCA - Breast invasive adenocarcinoma(22;4.24e-07) CTGTAAGTCCTTTTTTTCCTG 0.313 8 1188 --- --- --- --- BZRAP1 9256 broad.mit.edu 37 17 56387404 56387406 + In_Frame_Del DEL TCC TCC - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr17:56387404_56387406delTCC ENST00000355701.3 - 21 4683_4685 c.3813_3815delGGA c.(3811-3816)gaa>ga p.EE1273del BZRAP1_ENST00000268893.6_In_Frame_Del_p.EE1213del|BZRAP1_ENST00000343736.4_In_Frame_Del_p.EE1273del NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 1273 Poly-Glu. mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) CAGctcctcttcctcctcctcct 0.586 12 389 --- --- --- --- FTSJ3 117246 broad.mit.edu 37 17 61899155 61899157 + In_Frame_Del DEL CTC CTC - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr17:61899155_61899157delCTC ENST00000427159.2 - 15 2167_2169 c.1522_1524delGAG c.(1522-1524)del p.E508del NM_017647.3 NP_060117.3 Q8IY81 RRMJ3_HUMAN FtsJ homolog 3 (E. coli) 508 RNA methylation|rRNA processing nucleolus methyltransferase activity|nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 GCAGTGGATTCTCCTCCTCCTCC 0.537 15 1003 --- --- --- --- BPTF 2186 broad.mit.edu 37 17 65822267 65822269 + In_Frame_Del DEL GAG GAG - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr17:65822267_65822269delGAG ENST00000321892.4 + 1 488_490 c.427_429delGAG c.(427-429)del p.E148del BPTF_ENST00000306378.6_In_Frame_Del_p.E148del|BPTF_ENST00000424123.3_In_Frame_Del_p.E9del|BPTF_ENST00000335221.5_In_Frame_Del_p.E148del Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 148 Glu-rich. 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 p.E143*(2) 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) catggtctccgaggaggaggagg 0.635 11 107 --- --- --- --- CD300A 11314 broad.mit.edu 37 17 72469708 72469709 + Frame_Shift_Ins INS - - G TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr17:72469708_72469709insG ENST00000360141.3 + 2 362_363 c.74_75insG c.(73-75)gggfs p.G25fs CD300A_ENST00000310828.5_Intron|CD300A_ENST00000361933.3_Intron|CD300A_ENST00000577511.1_5'UTR|CD300A_ENST00000392625.3_Intron NM_001256841.1|NM_007261.3 NP_001243770.1|NP_009192.2 Q9UGN4 CLM8_HUMAN CD300a molecule 25 Ig-like V-type. cell adhesion integral to membrane|plasma membrane receptor activity breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1) 16 AGGACCGTGGCGGGCCCCGTGG 0.569 8 689 --- --- --- --- CD300A 11314 broad.mit.edu 37 17 72469711 72469712 + Frame_Shift_Ins INS - - GC TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr17:72469711_72469712insGC ENST00000360141.3 + 2 365_366 c.77_78insGC c.(76-78)gccfs p.A26fs CD300A_ENST00000310828.5_Intron|CD300A_ENST00000361933.3_Intron|CD300A_ENST00000577511.1_5'UTR|CD300A_ENST00000392625.3_Intron NM_001256841.1|NM_007261.3 NP_001243770.1|NP_009192.2 Q9UGN4 CLM8_HUMAN CD300a molecule 26 Ig-like V-type. cell adhesion integral to membrane|plasma membrane receptor activity breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1) 16 ACCGTGGCGGGCCCCGTGGGGG 0.569 14 666 --- --- --- --- SEH1L 81929 broad.mit.edu 37 18 12986927 12986929 + In_Frame_Del DEL TCC TCC - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr18:12986927_12986929delTCC ENST00000399892.2 + 9 1238_1240 c.1137_1139delTCC c.(1135-1140)ctt>ct p.LP379del SEH1L_ENST00000262124.11_3'UTR|RP11-773H22.4_ENST00000588211.1_RNA NM_001013437.1 NP_001013455.1 Q96EE3 SEH1_HUMAN SEH1-like (S. cerevisiae) 0 attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1) 11 CCCAGCTCCTtcctcctcctcct 0.522 21 305 --- --- --- --- OSBPL1A 114876 broad.mit.edu 37 18 21745096 21745097 + Frame_Shift_Ins INS - - T TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr18:21745096_21745097insT ENST00000319481.3 - 27 2888_2889 c.2682_2683insA c.(2680-2685)aagactfs p.T895fs OSBPL1A_ENST00000399443.3_Frame_Shift_Ins_p.T382fs|OSBPL1A_ENST00000357041.4_Frame_Shift_Ins_p.T513fs NM_080597.3 NP_542164.2 Q9BXW6 OSBL1_HUMAN oxysterol binding protein-like 1A 895 cholesterol metabolic process|lipid transport|vesicle-mediated transport phospholipid binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 36 all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17) TCCTCAAGTCGTTTTTTTTCTT 0.460 7 912 --- --- --- --- DENND1C 79958 broad.mit.edu 37 19 6477251 6477251 + Frame_Shift_Del DEL G G - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr19:6477251delG ENST00000381480.2 - 8 603 c.491delC c.(490-492)ctfs p.P164fs DENND1C_ENST00000543576.1_Frame_Shift_Del_p.P120fs|DENND1C_ENST00000591030.1_5'UTR NM_024898.2 NP_079174.2 Q8IV53 DEN1C_HUMAN DENN/MADD domain containing 1C 164 DENN. clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity endometrium(3)|kidney(3)|large_intestine(1)|lung(3) 10 CCCCCGGGTAGGGGGGGGGAT 0.672 13 213 --- --- --- --- SLC7A9 11136 broad.mit.edu 37 19 33353391 33353393 + In_Frame_Del DEL TGA TGA - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr19:33353391_33353393delTGA ENST00000023064.4 - 5 769_771 c.578_580delTCA c.(577-582)agc>a p.IS193del SLC7A9_ENST00000587772.1_In_Frame_Del_p.IS193del|SLC7A9_ENST00000590341.1_In_Frame_Del_p.IS193del NM_001126335.1|NM_001243036.1|NM_014270.4 NP_001119807.1|NP_001229965.1|NP_055085.1 P82251 BAT1_HUMAN solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9 193 I -> II (in CSNU). blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly integral to plasma membrane L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 Esophageal squamous(110;0.137) L-Cystine(DB00138) ACCAGCCCGCTGATGATGATGAT 0.631 7 404 --- --- --- --- LSM14A 26065 broad.mit.edu 37 19 34710340 34710340 + Frame_Shift_Del DEL C C - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr19:34710340delC ENST00000544216.3 + 7 903 c.826delC c.(826-828)ggfs p.R276fs LSM14A_ENST00000540746.2_Frame_Shift_Del_p.R235fs|LSM14A_ENST00000433627.5_Frame_Shift_Del_p.R276fs NM_015578.2 NP_056393.2 Q8ND56 LS14A_HUMAN LSM14A, SCD6 homolog A (S. cerevisiae) 276 cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1) 22 Esophageal squamous(110;0.162) TGGGGGTCATCGGGGTGGCAG 0.438 9 792 --- --- --- --- WDR62 284403 broad.mit.edu 37 19 36583666 36583668 + In_Frame_Del DEL GCA GCA - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr19:36583666_36583668delGCA ENST00000401500.2 + 19 2321_2323 c.2286_2288delGCA c.(2284-2289)cgg>cg p.RQ762del WDR62_ENST00000270301.7_In_Frame_Del_p.RQ762del NM_001083961.1|NM_173636.4 NP_001077430.1|NP_775907.4 O43379 WDR62_HUMAN WD repeat domain 62 762 cerebral cortex development nucleus cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3) 43 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) TTGACCACCGGCAGCAGCAGCAG 0.616 7 976 --- --- --- --- ZNF585B 92285 broad.mit.edu 37 19 37681158 37681158 + Translation_Start_Site DEL T T - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr19:37681158delT ENST00000531805.1 - 0 220 ZNF585B_ENST00000532828.2_Intron|ZNF585B_ENST00000586320.1_Intron|ZNF585B_ENST00000527838.1_Intron|CTC-454I21.3_ENST00000585860.2_Intron Q52M93 Z585B_HUMAN zinc finger protein 585B regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ATTTACTTCAttttttttttg 0.463 8 96 --- --- --- --- RYR1 6261 broad.mit.edu 37 19 38948159 38948160 + Frame_Shift_Del DEL TG TG - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr19:38948159_38948160delTG ENST00000355481.4 + 17 1945_1946 c.1814_1815delTG c.(1813-1815)cfs p.L605fs RYR1_ENST00000359596.3_Frame_Shift_Del_p.L605fs|RYR1_ENST00000360985.3_Frame_Shift_Del_p.L605fs NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 605 B30.2/SPRY 1. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CTATGCTCCCTGTGTGTGTGTA 0.530 10 1471 --- --- --- --- ZC3H4 23211 broad.mit.edu 37 19 47572401 47572403 + In_Frame_Del DEL CTC CTC - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr19:47572401_47572403delCTC ENST00000253048.5 - 14 2381_2383 c.2344_2346delGAG c.(2344-2346)del p.E782del ZC3H4_ENST00000594019.1_Intron NM_015168.1 NP_055983.1 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 782 nucleic acid binding|zinc ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 41 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) TCCTCGCTCTCTCCTCCTCCTCC 0.700 8 720 --- --- --- --- FUZ 80199 broad.mit.edu 37 19 50310483 50310485 + In_Frame_Del DEL CAG CAG - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr19:50310483_50310485delCAG ENST00000313777.4 - 11 1343_1345 c.1180_1182delCTG c.(1180-1182)del p.L394del FUZ_ENST00000528094.1_In_Frame_Del_p.L358del|FUZ_ENST00000533418.1_In_Frame_Del_p.L344del|FUZ_ENST00000445575.2_Intron NM_025129.4 NP_079405.2 Q9BT04 FUZZY_HUMAN fuzzy planar cell polarity protein 394 Leu-rich. cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway cytoplasm|cytoskeleton endometrium(1)|lung(3) 4 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116) TCTGGGGAGACAGCAGCAGCAGC 0.635 12 313 --- --- --- --- LILRB2 0 broad.mit.edu 37 19 54780707 54780709 + In_Frame_Del DEL GAG GAG - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr19:54780707_54780709delGAG ENST00000391748.1 - 10 1559_1561 c.1432_1434delCTC c.(1432-1434)del p.L478del LILRB2_ENST00000314446.5_In_Frame_Del_p.L478del|LILRB2_ENST00000391746.1_In_Frame_Del_p.L479del|LILRB2_ENST00000391749.4_In_Frame_Del_p.L479del|LILRB2_ENST00000434421.1_In_Frame_Del_p.L363del NM_001278403.1 NP_001265332.1 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 479 cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity p.L479L(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 44 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) ggatgaggaagaggaggaggagg 0.611 22 797 --- --- --- --- ZNF549 256051 broad.mit.edu 37 19 58049994 58049994 + Frame_Shift_Del DEL A A - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr19:58049994delA ENST00000376233.3 + 4 1803 c.1622delA c.(1621-1623)cafs p.Q541fs ZNF549_ENST00000240719.3_Frame_Shift_Del_p.Q528fs|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000594943.1_Intron NM_001199295.1 NP_001186224.1 Q6P9A3 ZN549_HUMAN zinc finger protein 549 541 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 21 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TTCAGCCACCAAAAAAGACTT 0.438 7 545 --- --- --- --- GINS1 9837 broad.mit.edu 37 20 25422397 25422397 + Frame_Shift_Del DEL A A - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr20:25422397delA ENST00000262460.4 + 6 601 c.507delA c.(505-507)ttfs p.L169fs GINS1_ENST00000429262.2_3'UTR NM_021067.3 NP_066545.3 Q14691 PSF1_HUMAN GINS complex subunit 1 (Psf1 homolog) 169 DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle cytoplasm|nucleoplasm p.N172fs*14(1) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1) 7 CAGTCCTATTAAAAAAAAATA 0.299 17 434 --- --- --- --- ZMYND8 23613 broad.mit.edu 37 20 45875072 45875072 + Frame_Shift_Del DEL T T - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr20:45875072delT ENST00000311275.7 - 14 2157 c.1904delA c.(1903-1905)agfs p.K635fs ZMYND8_ENST00000540497.1_Frame_Shift_Del_p.K583fs|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000360911.3_Frame_Shift_Del_p.K630fs|ZMYND8_ENST00000536340.1_Frame_Shift_Del_p.K662fs|ZMYND8_ENST00000458360.2_Frame_Shift_Del_p.K630fs|ZMYND8_ENST00000372023.3_Frame_Shift_Del_p.K630fs|ZMYND8_ENST00000461685.1_Frame_Shift_Del_p.K655fs|ZMYND8_ENST00000446994.2_Frame_Shift_Del_p.K572fs|ZMYND8_ENST00000352431.2_Frame_Shift_Del_p.K655fs|ZMYND8_ENST00000396281.4_Frame_Shift_Del_p.K635fs|ZMYND8_ENST00000355972.4_Frame_Shift_Del_p.K635fs|ZMYND8_ENST00000262975.4_Frame_Shift_Del_p.K635fs|ZMYND8_ENST00000471951.2_Frame_Shift_Del_p.K655fs Q9ULU4 PKCB1_HUMAN zinc finger, MYND-type containing 8 635 protein binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8) 62 Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154) AGGCTTGGGCTTTTTTTTAAC 0.488 7 971 --- --- --- --- KCNB1 3745 broad.mit.edu 37 20 47989891 47989891 + Frame_Shift_Del DEL G G - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr20:47989891delG ENST00000371741.4 - 2 2372 c.2206delC c.(2206-2208)ggfs p.R736fs NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 736 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) TCAGGAGACCGGGGGGGTGTC 0.562 10 580 --- --- --- --- SYCP2 10388 broad.mit.edu 37 20 58452518 58452519 + Frame_Shift_Ins INS - - T TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr20:58452518_58452519insT ENST00000357552.3 - 33 3296_3297 c.3071_3072insA c.(3070-3072)atafs p.I1024fs SYCP2_ENST00000371001.2_Frame_Shift_Ins_p.I1024fs Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 1024 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) GATCTTTATAGTTTTTTTTTGT 0.327 7 342 --- --- --- --- YTHDF1 54915 broad.mit.edu 37 20 61833650 61833652 + In_Frame_Del DEL CCT CCT - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr20:61833650_61833652delCCT ENST00000370339.3 - 4 1981_1983 c.1640_1642delAGG c.(1639-1644)gtg>g p.EV547del YTHDF1_ENST00000370333.4_In_Frame_Del_p.EV497del|YTHDF1_ENST00000370334.4_Intron NM_017798.3 NP_060268.2 Q9BYJ9 YTHD1_HUMAN YTH domain family, member 1 547 NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2) 24 TTGCGCACCACCTCCTCCTCCTC 0.557 13 641 --- --- --- --- TCP10L 140290 broad.mit.edu 37 21 33949091 33949091 + Frame_Shift_Del DEL C C - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr21:33949091delC ENST00000300258.3 - 5 754 c.641delG c.(640-642)gtfs p.G214fs TCP10L_ENST00000491828.1_5'UTR NM_144659.5 NP_653260.1 t-complex 10-like breast(1)|central_nervous_system(1)|liver(1)|skin(1) 4 TCTTCAGACACCCCCCCGTCT 0.478 8 602 --- --- --- --- PRDM15 63977 broad.mit.edu 37 21 43221415 43221417 + In_Frame_Del DEL CTG CTG - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr21:43221415_43221417delCTG ENST00000422911.1 - 25 3681_3683 c.3580_3582delCAG c.(3580-3582)del p.Q1194del PRDM15_ENST00000447207.2_In_Frame_Del_p.Q1137del|PRDM15_ENST00000398548.1_In_Frame_Del_p.Q1174del|PRDM15_ENST00000269844.3_In_Frame_Del_p.Q1503del|PRDM15_ENST00000538201.1_In_Frame_Del_p.Q1157del|PRDM15_ENST00000470586.1_5'UTR P57071 PRD15_HUMAN PR domain containing 15 1503 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1) 43 AGCTGTACATCTGCTGCTGCTGC 0.611 10 501 --- --- --- --- PWP2 5822 broad.mit.edu 37 21 45535692 45535694 + In_Frame_Del DEL GAG GAG - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr21:45535692_45535694delGAG ENST00000291576.7 + 7 854_856 c.727_729delGAG c.(727-729)del p.E247del NM_005049.2 NP_005040.2 Q15269 PWP2_HUMAN PWP2 periodic tryptophan protein homolog (yeast) 247 Poly-Glu. cytoplasm|nucleolus signal transducer activity cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 21 STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2) ggaggaggaagaggaggaggagg 0.640 8 210 --- --- --- --- MKL1 57591 broad.mit.edu 37 22 40816887 40816889 + In_Frame_Del DEL TGC TGC - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr22:40816887_40816889delTGC ENST00000396617.3 - 10 1433_1435 c.843_845delGCA c.(841-846)cac>ca p.QH281del MKL1_ENST00000402042.1_In_Frame_Del_p.QH231del|MKL1_ENST00000355630.3_In_Frame_Del_p.QH281del|MKL1_ENST00000407029.1_In_Frame_Del_p.QH281del Q969V6 MKL1_HUMAN megakaryoblastic leukemia (translocation) 1 281 Gln-rich. positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent cytoplasm|nucleus actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 30 GTAGTTGTGGTGCTGCTGCTGCT 0.660 T RBM15 acute megakaryocytic leukemia 7 269 --- --- --- --- RANGAP1 5905 broad.mit.edu 37 22 41650469 41650471 + In_Frame_Del DEL TCC TCC - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr22:41650469_41650471delTCC ENST00000455915.2 - 10 2570_2572 c.1101_1103delGGA c.(1099-1104)gaa>ga p.EE367del RANGAP1_ENST00000405486.1_In_Frame_Del_p.EE367del|RANGAP1_ENST00000356244.3_In_Frame_Del_p.EE367del|RANGAP1_ENST00000407260.4_In_Frame_Del_p.EE312del P46060 RAGP1_HUMAN Ran GTPase activating protein 1 367 Asp/Glu-rich (highly acidic). mitotic prometaphase|signal transduction condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole protein binding|Ran GTPase activator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 ctcttctccttcctcctcctcct 0.562 29 540 --- --- --- --- TCF20 6942 broad.mit.edu 37 22 42605990 42605992 + In_Frame_Del DEL CTG CTG - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr22:42605990_42605992delCTG ENST00000359486.3 - 1 5456_5458 c.5320_5322delCAG c.(5320-5322)del p.Q1774del TCF20_ENST00000335626.4_In_Frame_Del_p.Q1774del|TCF20_ENST00000404876.1_In_Frame_Del_p.Q75del NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 1774 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 TCTGCTCCTTCTGCTGCTGCTGC 0.601 10 527 --- --- --- --- TCF20 6942 broad.mit.edu 37 22 42610573 42610575 + In_Frame_Del DEL AGG AGG - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr22:42610573_42610575delAGG ENST00000359486.3 - 1 873_875 c.737_739delCCT c.(736-741)ttc>t p.SF246del TCF20_ENST00000335626.4_In_Frame_Del_p.SF246del NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 246 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 GGTGAAGGGAaggaggaggagga 0.507 16 484 --- --- --- --- MLC1 23209 broad.mit.edu 37 22 50506871 50506872 + Frame_Shift_Ins INS - - G TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chr22:50506871_50506872insG ENST00000311597.5 - 10 1490_1491 c.884_885insC c.(883-885)cgcfs p.R295fs MLC1_ENST00000431262.2_Frame_Shift_Ins_p.R265fs|MLC1_ENST00000483836.1_5'UTR|MLC1_ENST00000450140.2_Frame_Shift_Ins_p.R243fs|MLC1_ENST00000538737.1_Frame_Shift_Ins_p.R261fs|MLC1_ENST00000395876.2_Frame_Shift_Ins_p.R295fs|MLC1_ENST00000535444.1_Frame_Shift_Ins_p.R216fs NM_015166.3 NP_055981.1 Q15049 MLC1_HUMAN megalencephalic leukoencephalopathy with subcortical cysts 1 295 basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction ion channel activity endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3) 18 all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113) READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216) CTTTTATGGCTGGCGGGTAATC 0.525 8 560 --- --- --- --- TXLNG 55787 broad.mit.edu 37 X 16850849 16850850 + Frame_Shift_Del DEL AG AG - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chrX:16850849_16850850delAG ENST00000380122.5 + 6 1029_1030 c.968_969delAG c.(967-969)cfs p.Q323fs TXLNG_ENST00000398155.4_Frame_Shift_Del_p.Q191fs NM_018360.2 NP_060830.2 Q9NUQ3 TXLNG_HUMAN taxilin gamma 323 cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nuclear membrane breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 15 GAAAAACATCAGAGAGAGAGAG 0.386 10 475 --- --- --- --- CNKSR2 22866 broad.mit.edu 37 X 21627678 21627680 + In_Frame_Del DEL GAG GAG - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chrX:21627678_21627680delGAG ENST00000425654.2 + 19 3025_3027 c.2545_2547delGAG c.(2545-2547)del p.E856del CNKSR2_ENST00000379510.3_In_Frame_Del_p.E886del|CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del|CNKSR2_ENST00000279451.4_In_Frame_Del_p.E886del NM_001168647.1 NP_001162118.1 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 2 886 regulation of signal transduction cytoplasm|membrane protein binding breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 ggtggaggaagaggaggaggagg 0.517 23 304 --- --- --- --- PRRG1 5638 broad.mit.edu 37 X 37312611 37312611 + Frame_Shift_Del DEL C C - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chrX:37312611delC ENST00000542554.1 + 5 666 c.394delC c.(394-396)ccfs p.P135fs TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000378628.4_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000449135.2_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000543642.1_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000491253.1_3'UTR NM_001173489.1 NP_001166960.1 O14668 TMG1_HUMAN proline rich Gla (G-carboxyglutamic acid) 1 135 Poly-Pro. extracellular region|integral to plasma membrane calcium ion binding p.P135fs*3(1)|p.P134fs*19(1) breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 15 TATCACCCCACCCCCCCCACC 0.488 20 1078 --- --- --- --- NAP1L3 4675 broad.mit.edu 37 X 92928035 92928036 + Frame_Shift_Ins INS - - C TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chrX:92928035_92928036insC ENST00000373079.3 - 1 531_532 c.268_269insG c.(268-270)cccfs p.P90fs NAP1L3_ENST00000475430.1_5'UTR NM_004538.5 NP_004529.2 Q99457 NP1L3_HUMAN nucleosome assembly protein 1-like 3 90 nucleosome assembly chromatin assembly complex haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 34 TCCCAACGGGGCCCGCCGCGCC 0.564 7 243 --- --- --- --- HTATSF1 27336 broad.mit.edu 37 X 135585048 135585050 + In_Frame_Del DEL AAG AAG - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chrX:135585048_135585050delAAG ENST00000535601.1 + 6 1104_1106 c.682_684delAAG c.(682-684)del p.K232del HTATSF1_ENST00000218364.4_In_Frame_Del_p.K232del NM_001163280.1 NP_001156752.1 O43719 HTSF1_HUMAN HIV-1 Tat specific factor 1 232 Poly-Lys. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication nucleus nucleotide binding|protein binding|RNA binding NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1) 30 Acute lymphoblastic leukemia(192;0.000127) TGATGCCTCAAAGAAGAAGAAGA 0.335 12 763 --- --- --- --- MAGEA10 4109 broad.mit.edu 37 X 151303906 151303908 + In_Frame_Del DEL AGG AGG - TCGA-IB-7891-01A-11D-2201-08 TCGA-IB-7891-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 232bda70-597f-4d12-b538-ae907bda8ba5 cceed9ba-fa58-465a-913a-928876675c22 g.chrX:151303906_151303908delAGG ENST00000370323.4 - 4 501_503 c.185_187delCCT c.(184-189)tgc>t p.SC62del MAGEA10_ENST00000244096.3_In_Frame_Del_p.SC62del|RP11-1007I13.4_ENST00000509345.2_RNA NM_001251828.1|NM_021048.4 NP_001238757.1|NP_066386.2 P43363 MAGAA_HUMAN melanoma antigen family A, 10 62 Poly-Ser. endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) AGAGGATAGCaggaggaggagga 0.562 20 658 --- --- --- ---