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 BTN2A3P 0 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 14 622 0 0 1 0 0 PCDH12 51294 broad.mit.edu 37 5 141335640 141335640 + Missense_Mutation SNP C C T TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr5:141335640C>T ENST00000231484.3 - 1 2987 c.1777G>A c.(1777-1779)Gag>Aag p.E593K NM_016580.2 NP_057664.1 Q9NPG4 PCD12_HUMAN protocadherin 12 593 neuron recognition integral to plasma membrane calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1) 38 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTGGGAGTCTCGATGGGCACC 0.597000 51 241 0 0 1 0 0 NTNG2 84628 broad.mit.edu 37 9 135073821 135073821 + Missense_Mutation SNP C C T TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr9:135073821C>T ENST00000393229.3 + 3 1458 c.682C>T c.(682-684)Cgc>Tgc p.R228C NTNG2_ENST00000393228.4_Missense_Mutation_p.R228C|NTNG2_ENST00000360670.3_Missense_Mutation_p.R228C|NTNG2_ENST00000372179.3_Missense_Mutation_p.R228C NM_032536.2 NP_115925.2 Q96CW9 NTNG2_HUMAN netrin G2 228 Laminin N-terminal. axonogenesis anchored to plasma membrane central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 29 OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173) CCCCGACCTGCGCAACATGGA 0.667000 11 413 0 0 1 0 0 NBEAL1 65065 broad.mit.edu 37 2 204009874 204009874 + Silent SNP C C T TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr2:204009874C>T ENST00000449802.1 + 32 5541 c.5208C>T c.(5206-5208)ctC>ctT p.L1736L NM_001114132.1 NP_001107604.1 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 1736 binding NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 AAAGCAAGCTCAAATTTCAGG 0.333000 21 347 0 0 1 0 0 RUNX2 860 broad.mit.edu 37 6 45390482 45390482 + Missense_Mutation SNP C C G TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr6:45390482C>G ENST00000371438.1 + 2 569 c.211C>G c.(211-213)Cag>Gag p.Q71E RUNX2_ENST00000359524.5_Missense_Mutation_p.Q57E|RUNX2_ENST00000371436.6_Missense_Mutation_p.Q71E|RUNX2_ENST00000465038.2_Missense_Mutation_p.Q71E|RUNX2_ENST00000576263.1_Missense_Mutation_p.Q71E|RUNX2_ENST00000541979.1_Missense_Mutation_p.Q139E|RUNX2_ENST00000371432.3_Missense_Mutation_p.Q57E|RUNX2_ENST00000352853.5_Missense_Mutation_p.Q139E NM_001024630.3 NP_001019801.3 Q13950 RUNX2_HUMAN runt-related transcription factor 2 71 Poly-Gln. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 gcagcagcagcaggaggcggc 0.716000 6 146 0 0 1 0 0 EFCAB6 64800 broad.mit.edu 37 22 44083357 44083357 + Missense_Mutation SNP C C T TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr22:44083357C>T ENST00000262726.7 - 11 1389 c.1136G>A c.(1135-1137)aGa>aAa p.R379K EFCAB6_ENST00000396231.2_Missense_Mutation_p.R227K|EFCAB6_ENST00000358439.4_Intron NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 379 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) ATACCTATTTCTTTTTGTCAG 0.308000 25 160 0 0 1 0 0 RARRES3 5920 broad.mit.edu 37 11 63307030 63307030 + Missense_Mutation SNP C C T TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr11:63307030C>T ENST00000439013.2 + 2 105 c.52C>T c.(52-54)Cgc>Tgc p.R18C RARRES3_ENST00000255688.3_Missense_Mutation_p.R18C|RARRES3_ENST00000354445.2_Missense_Mutation_p.R18C|RARRES3_ENST00000537871.1_Intron Q9UL19 TIG3_HUMAN retinoic acid receptor responder (tazarotene induced) 3 18 lipid catabolic process|negative regulation of cell proliferation hydrolase activity kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 6 TGAGATTTTCCGCCTTGGCTA 0.483000 31 418 0 0 1 0 0 HERC2P3 0 broad.mit.edu 37 15 20644684 20644684 + RNA SNP G G C TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr15:20644684G>C ENST00000428453.1 - 0 3187 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 ACAGGGAAGGGAGACGGCCAC 0.632000 5 127 0 0 1 0 0 EYS 346007 broad.mit.edu 37 6 66063415 66063415 + Missense_Mutation SNP G G C TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr6:66063415G>C ENST00000503581.1 - 9 1932 c.1395C>G c.(1393-1395)ttC>ttG p.F465L EYS_ENST00000393380.2_Missense_Mutation_p.F465L|EYS_ENST00000370616.2_Missense_Mutation_p.F465L|EYS_ENST00000370618.3_Missense_Mutation_p.F465L|EYS_ENST00000370621.3_Missense_Mutation_p.F465L|EYS_ENST00000342421.5_Missense_Mutation_p.F465L NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 465 response to stimulus|visual perception extracellular region calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 AAATACCATGGAAGGTGACTC 0.373000 70 448 0 0 1 0 0 RUNX2 860 broad.mit.edu 37 6 45390466 45390466 + Silent SNP A A G TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr6:45390466A>G ENST00000371438.1 + 2 553 c.195A>G c.(193-195)caA>caG p.Q65Q RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q NM_001024630.3 NP_001019801.3 Q13950 RUNX2_HUMAN runt-related transcription factor 2 65 Poly-Gln. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 agcagcagcaacagcagcagc 0.731000 7 229 0 0 1 0 0 COL5A3 50509 broad.mit.edu 37 19 10097024 10097024 + Silent SNP G G A TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr19:10097024G>A ENST00000264828.3 - 30 2404 c.2319C>T c.(2317-2319)ggC>ggT p.G773G NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 773 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) GCCCCTCCTCGCCAGCCTGCC 0.612000 24 217 0 0 1 0 0 GRAMD1A 57655 broad.mit.edu 37 19 35500042 35500042 + Missense_Mutation SNP C C T TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr19:35500042C>T ENST00000599564.1 + 3 360 c.289C>T c.(289-291)Cgg>Tgg p.R97W GRAMD1A_ENST00000424536.2_Missense_Mutation_p.R10W|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.R10W|GRAMD1A_ENST00000504615.2_5'UTR|GRAMD1A_ENST00000598073.1_3'UTR|GRAMD1A_ENST00000317991.5_Missense_Mutation_p.R10W Q96CP6 GRM1A_HUMAN GRAM domain containing 1A 10 GRAM. integral to membrane NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 19 all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) CCACTCTGGCCGGAGCACGCC 0.622000 47 652 0 0 1 0 0 MST1L 0 broad.mit.edu 37 1 17083837 17083837 + RNA SNP T T C rs7798 by1000genomes TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr1:17083837T>C ENST00000455405.2 - 0 751 CTAATTCCTTTCAGGACCCAG 0.572000 13 144 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16946407 16946407 + RNA SNP T T G rs10796418 by1000genomes TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr1:16946407T>G ENST00000412962.1 - 0 1112 AGCAATCTCCTCACTCAGCTG 0.672000 5 124 0 0 1 0 0 CROCCP3 0 broad.mit.edu 37 1 16812970 16812970 + RNA SNP C C A rs150878633 by1000genomes TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr1:16812970C>A ENST00000263511.4 - 0 1341 NR_023386.1 TGCTGCTGGGCCAGGTCCTTC 0.647000 4 48 1 1 1 1 0 TPO 7173 broad.mit.edu 37 2 1520713 1520713 + Silent SNP C C T TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr2:1520713C>T ENST00000345913.4 + 15 2668 c.2577C>T c.(2575-2577)atC>atT p.I859I TPO_ENST00000382198.1_Silent_p.I686I|TPO_ENST00000329066.4_Silent_p.I859I|TPO_ENST00000346956.3_Silent_p.I815I|TPO_ENST00000349624.3_Silent_p.I686I|TPO_ENST00000382201.3_Silent_p.I802I|TPO_ENST00000337415.3_Silent_p.I859I|TPO_ENST00000497517.2_3'UTR NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 859 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) CTCTGCTGATCGGAGGCTTCG 0.547000 24 234 0 0 1 0 0 SDHAP1 0 broad.mit.edu 37 3 195698262 195698262 + RNA SNP C C G rs28503679 by1000genomes TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr3:195698262C>G ENST00000427841.1 - 0 1610 NR_003264.2 AATTTGTCAACATTCGTGACA 0.418000 9 456 0 0 1 0 0 FRMPD2 143162 broad.mit.edu 37 10 49457187 49457187 + Silent SNP G G A TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr10:49457187G>A ENST00000374201.3 - 3 488 c.186C>T c.(184-186)gcC>gcT p.A62A FRMPD2_ENST00000305531.3_Silent_p.A60A|FRMPD2_ENST00000407470.4_Silent_p.A53A NM_001018071.3 NP_001018081.3 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 62 KIND. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) CAGAAAGCAGGGCTGACCAGG 0.552000 39 179 0 0 1 0 0 HEATR3 55027 broad.mit.edu 37 16 50112735 50112735 + Missense_Mutation SNP G G A TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr16:50112735G>A ENST00000299192.7 + 7 1038 c.847G>A c.(847-849)Gtt>Att p.V283I HEATR3_ENST00000285767.4_Missense_Mutation_p.V197I NM_182922.2 NP_891552.1 Q7Z4Q2 HEAT3_HUMAN HEAT repeat containing 3 283 binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 CTTATCTGAAGTTTTGGGAAT 0.378000 8 350 0 0 1 0 0 GOLGA6B 55889 broad.mit.edu 37 15 72954797 72954797 + Missense_Mutation SNP T T C TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr15:72954797T>C ENST00000421285.3 + 11 1052 c.1052T>C c.(1051-1053)gTg>gCg p.V351A NM_018652.4 NP_061122.4 A6NDN3 GOG6B_HUMAN golgin A6 family, member B 351 p.V351A(4) NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 16 GAGCAGGAGGTGCAGAGAGTG 0.562000 4 22 0 0 1 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971111 21971111 + Missense_Mutation SNP G G C rs121913385 TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr9:21971111G>C ENST00000579755.1 - 2 582 c.290C>G c.(289-291)gCa>gGa p.A97G CDKN2A_ENST00000497750.1_Missense_Mutation_p.H32D|CDKN2A_ENST00000498124.1_Missense_Mutation_p.H83D|CDKN2A_ENST00000304494.5_Missense_Mutation_p.H83D|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Missense_Mutation_p.A97G|CDKN2A_ENST00000578845.2_Missense_Mutation_p.H32D|CDKN2A_ENST00000361570.3_Missense_Mutation_p.A138G|CDKN2A_ENST00000479692.2_Missense_Mutation_p.H32D|CDKN2A_ENST00000498628.2_Missense_Mutation_p.H32D|CDKN2A_ENST00000494262.1_Missense_Mutation_p.H32D|CDKN2A_ENST00000446177.1_Missense_Mutation_p.H83D|CDKN2A_ENST00000579122.1_Missense_Mutation_p.H83D P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 0 L -> R (in CMM2; loss of CDK4 binding). 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.H83Y(30)|p.A138V(2)|p.H83fs*2(2)|p.H83N(1)|p.V82fs*62(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(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) GCAGCGTCGTGCACGGGTCGG 0.741000 H83Y(CALU3_LUNG)|H83Y(HS944T_SKIN)|H83Y(JHH2_LIVER)|H83Y(OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|H83Y(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 15 99 0 0 1 0 0 KIAA1551 55196 broad.mit.edu 37 12 32135653 32135653 + Silent SNP T T C TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr12:32135653T>C ENST00000312561.4 + 4 2178 c.1764T>C c.(1762-1764)ctT>ctC p.L588L KIAA1551_ENST00000535596.1_Intron NM_018169.3 NP_060639.3 KIAA1551 TCGCTTTGCTTTCACAGGCAC 0.358000 83 460 0 0 1 0 0 CHML 1122 broad.mit.edu 37 1 241799053 241799053 + Missense_Mutation SNP G G A TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr1:241799053G>A ENST00000366553.1 - 1 179 c.16C>T c.(16-18)Ccc>Tcc p.P6S OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron NM_001821.3 NP_001812.2 P26374 RAE2_HUMAN choroideremia-like (Rab escort protein 2) 6 intracellular protein transport|visual perception Rab-protein geranylgeranyltransferase complex GTPase activator activity|Rab geranylgeranyltransferase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1) 26 Ovarian(103;0.103)|all_lung(81;0.23) all_cancers(173;0.0231) OV - Ovarian serous cystadenocarcinoma(106;0.0125) AACTCTGTGGGAAGATTGTCC 0.433000 35 520 0 0 1 0 0 MYT1 4661 broad.mit.edu 37 20 62839353 62839353 + Silent SNP A A G TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr20:62839353A>G ENST00000536311.1 + 7 1168 c.804A>G c.(802-804)gaA>gaG p.E268E MYT1_ENST00000328439.1_Silent_p.E268E|MYT1_ENST00000360149.4_Intron Q01538 MYT1_HUMAN myelin transcription factor 1 268 Glu-rich. cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E268E(2) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) aggaggaggaagaggaggagg 0.572000 5 158 0 0 1 0 0 UPF3A 65110 broad.mit.edu 37 13 115047559 115047559 + Silent SNP C C T TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr13:115047559C>T ENST00000375299.3 + 2 327 c.271C>T c.(271-273)Ctg>Ttg p.L91L UPF3A_ENST00000351487.5_Silent_p.L91L NM_023011.3 NP_075387.1 Q9H1J1 REN3A_HUMAN UPF3 regulator of nonsense transcripts homolog A (yeast) 91 Required for interaction with UPF2. mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation cytoplasm|nucleus|plasma membrane nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding p.L91L(8) autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 16 Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238) BRCA - Breast invasive adenocarcinoma(86;0.0886) OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2) GCTGCGCCCGCTGCCAGCACA 0.731000 5 31 0 0 1 0 0 TPTE2P6 0 broad.mit.edu 37 13 25144704 25144704 + RNA SNP T T C rs71218558 by1000genomes TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr13:25144704T>C ENST00000453498.1 + 0 245 TACATAGATGTGTTTAACACA 0.388000 21 107 0 0 1 0 0 NCOR1P1 0 broad.mit.edu 37 20 26084296 26084296 + RNA SNP A A G rs61752037 by1000genomes TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr20:26084296A>G ENST00000478176.1 - 0 161 NR_003678.1 p.F40F(1) GTTTGCCTCCAAATGCTGGAT 0.378000 12 288 0 0 1 0 0 GRID1 2894 broad.mit.edu 37 10 87362370 87362370 + Missense_Mutation SNP G G A TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr10:87362370G>A ENST00000327946.7 - 16 2775 c.2690C>T c.(2689-2691)tCg>tTg p.S897L GRID1_ENST00000536331.1_Missense_Mutation_p.S468L|GRID1_ENST00000552278.2_5'UTR NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 897 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) GAGCTCAATCGACGCTGGGGA 0.592000 Multiple Myeloma(13;0.14) 28 119 0 0 1 0 0 IGKV1-5 0 broad.mit.edu 37 2 89246938 89246938 + RNA SNP T T C TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr2:89246938T>C ENST00000496168.1 - 0 412 GGGACCCCACTTTCTAAACTA 0.507000 13 495 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22663087 22663087 + RNA SNP A A G rs1054158 TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr22:22663087A>G ENST00000426066.1 + 0 526 NR_027293.1 GCTGCCACATAAGTTGTCCTT 0.303000 17 173 0 0 1 0 0 CLTCL1 8218 broad.mit.edu 37 22 19184149 19184149 + Missense_Mutation SNP C C T TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr22:19184149C>T ENST00000263200.10 - 25 3964 c.3892G>A c.(3892-3894)Gag>Aag p.E1298K CLTCL1_ENST00000353891.5_Missense_Mutation_p.E1298K|CLTCL1_ENST00000442042.2_5'UTR|CLTCL1_ENST00000427926.1_Missense_Mutation_p.E1298K NM_007098.3 NP_009029.3 P53675 CLH2_HUMAN clathrin, heavy chain-like 1 1298 Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Colorectal(54;0.0993) AAGATCAGCTCCTCAAAGTAG 0.612000 T ? ALCL 9 111 0 0 1 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5239938 5239938 + Missense_Mutation SNP G G A TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr5:5239938G>A ENST00000274181.7 + 16 2561 c.2423G>A c.(2422-2424)cGg>cAg p.R808Q NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 808 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 TGGCCCGGCCGGTACAAATTT 0.512000 50 665 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37506771 37506771 + Missense_Mutation SNP A A G TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr10:37506771A>G ENST00000374660.1 + 39 3520 c.3421A>G c.(3421-3423)Ata>Gta p.I1141V ANKRD30A_ENST00000602533.1_Missense_Mutation_p.I1022V|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.I1022V Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1116 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 AATACAAGATATAGAATTGAA 0.274000 29 161 0 0 1 0 0 FAM155A 728215 broad.mit.edu 37 13 108518661 108518661 + Missense_Mutation SNP T T C TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr13:108518661T>C ENST00000375915.2 - 1 422 c.284A>G c.(283-285)cAg>cGg p.Q95R NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 95 Poly-Gln. integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 ctgccgccgctgctgctgctg 0.731000 7 230 0 0 1 0 0 NRXN2 9379 broad.mit.edu 37 11 64434761 64434761 + Missense_Mutation SNP C C T TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr11:64434761C>T ENST00000265459.6 - 9 2220 c.1759G>A c.(1759-1761)Gag>Aag p.E587K NRXN2_ENST00000409571.1_Missense_Mutation_p.E580K|NRXN2_ENST00000377551.1_Missense_Mutation_p.E587K|NRXN2_ENST00000377559.3_Missense_Mutation_p.E556K NM_015080.3 NP_055895.1 Q9P2S2 NRX2A_HUMAN neurexin 2 587 Laminin G-like 3. cell adhesion integral to membrane metal ion binding p.E587K(1) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 TGACACCACTCGCCATCATTG 0.592000 80 488 0 0 1 0 0 PRR11 55771 broad.mit.edu 37 17 57271093 57271093 + Nonsense_Mutation SNP C C T TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr17:57271093C>T ENST00000262293.4 + 5 955 c.643C>T c.(643-645)Cag>Tag p.Q215* NM_018304.3 NP_060774.2 Q96HE9 PRR11_HUMAN proline rich 11 215 breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1) 16 Medulloblastoma(34;0.0922)|all_neural(34;0.101) TAAAGCACTTCAGGTAGGTAA 0.473000 154 571 0 0 1 0 0 PRR11 55771 broad.mit.edu 37 17 57271031 57271031 + Missense_Mutation SNP C C T TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr17:57271031C>T ENST00000262293.4 + 5 893 c.581C>T c.(580-582)cCa>cTa p.P194L NM_018304.3 NP_060774.2 Q96HE9 PRR11_HUMAN proline rich 11 194 Pro-rich. breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1) 16 Medulloblastoma(34;0.0922)|all_neural(34;0.101) ccacctctgccacctcctccA 0.522000 52 524 0 0 1 0 0 RUNX2 860 broad.mit.edu 37 6 45390463 45390463 + Silent SNP G G A TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr6:45390463G>A ENST00000371438.1 + 2 550 c.192G>A c.(190-192)caG>caA p.Q64Q RUNX2_ENST00000359524.5_Silent_p.Q50Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q|RUNX2_ENST00000576263.1_Silent_p.Q64Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000352853.5_Silent_p.Q132Q NM_001024630.3 NP_001019801.3 Q13950 RUNX2_HUMAN runt-related transcription factor 2 64 Poly-Gln. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 agcagcagcagcaacagcagc 0.736000 6 245 0 0 1 0 0 GJB4 127534 broad.mit.edu 37 1 35227279 35227279 + Missense_Mutation SNP G G A TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr1:35227279G>A ENST00000339480.1 + 2 794 c.424G>A c.(424-426)Gat>Aat p.D142N RP1-34M23.5_ENST00000542839.1_RNA NM_153212.2 NP_694944.1 Q9NTQ9 CXB4_HUMAN gap junction protein, beta 4, 30.3kDa 142 cell communication connexon complex|integral to membrane gap junction channel activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1) 16 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) GGCCGCCGTGGATGCTGGCTT 0.612000 42 242 0 0 1 0 0 OR1A1 8383 broad.mit.edu 37 17 3119669 3119669 + Missense_Mutation SNP G G A TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr17:3119669G>A ENST00000304094.1 + 1 755 c.755G>A c.(754-756)gGt>gAt p.G252D NM_014565.2 NP_055380.2 Q9P1Q5 OR1A1_HUMAN olfactory receptor, family 1, subfamily A, member 1 252 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 23 TTGTATTATGGTACAGTCATG 0.498000 136 642 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23887583 23887583 + Silent SNP C C T rs144465613 byFrequency TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr14:23887583C>T ENST00000355349.3 - 30 4167 c.4005G>A c.(4003-4005)tcG>tcA p.S1335S NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1335 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.S1335S(3) NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CATGCCGGGCCGACTGCAGTG 0.662000 6 275 0 0 1 0 0 FAM154A 158297 broad.mit.edu 37 9 18941744 18941744 + Silent SNP C C T rs112030642 TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr9:18941744C>T ENST00000380534.4 - 3 591 c.312G>A c.(310-312)acG>acA p.T104T FAM154A_ENST00000542071.1_Intron|FAM154A_ENST00000380530.1_Intron NM_153707.2 NP_714918.2 Q8IYX7 F154A_HUMAN family with sequence similarity 154, member A 104 breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1) 26 GBM - Glioblastoma multiforme(50;6.53e-16) CTTTCTTATACGTCGTGAGCA 0.478000 103 408 0 0 1 0 0 OR5L1 219437 broad.mit.edu 37 11 55579400 55579400 + Missense_Mutation SNP C C T rs144467940 by1000genomes TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr11:55579400C>T ENST00000333973.2 + 1 547 c.458C>T c.(457-459)aCg>aTg p.T153M NM_001004738.1 NP_001004738.1 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, member 1 153 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3) 78 all_epithelial(135;0.208) TTCTGTGGGACGGTGTGTTCT 0.453000 168 871 0 0 1 0 0 NBEA 26960 broad.mit.edu 37 13 35735929 35735929 + Nonsense_Mutation SNP C C T TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr13:35735929C>T ENST00000540320.1 + 23 4438 c.3904C>T c.(3904-3906)Cga>Tga p.R1302* NBEA_ENST00000400445.3_Nonsense_Mutation_p.R1302*|NBEA_ENST00000310336.4_Nonsense_Mutation_p.R1302*|NBEA_ENST00000379939.2_Nonsense_Mutation_p.R1302* Q8NFP9 NBEA_HUMAN neurobeachin 1302 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) CCGAGATCTCCGAGTTGATTT 0.433000 5 121 0 0 1 0 0 HLA-A 3105 broad.mit.edu 37 6 29910693 29910693 + Missense_Mutation SNP A A G rs41559716 by1000genomes TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr6:29910693A>G ENST00000396634.1 + 4 574 c.233A>G c.(232-234)cAg>cGg p.Q78R HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R P30443 1A01_HUMAN major histocompatibility complex, class I, A 78 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity p.Q78R(2) central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 TGGATAGAGCAGGAGGGGCCG 0.657000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 10 131 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578526 7578526 + Missense_Mutation SNP C C T TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr17:7578526C>T ENST00000420246.2 - 5 536 c.404G>A c.(403-405)tGc>tAc p.C135Y TP53_ENST00000445888.2_Missense_Mutation_p.C135Y|TP53_ENST00000359597.4_Missense_Mutation_p.C135Y|TP53_ENST00000413465.2_Missense_Mutation_p.C135Y|TP53_ENST00000455263.2_Missense_Mutation_p.C135Y|TP53_ENST00000269305.4_Missense_Mutation_p.C135Y NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 135 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP). 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.C135Y(60)|p.C135F(43)|p.C135S(8)|p.0?(8)|p.C42Y(4)|p.C3Y(4)|p.C135fs*9(3)|p.N131fs*27(2)|p.C3F(2)|p.C42F(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*15(1)|p.C135fs*14(1)|p.Y126fs*11(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.C42S(1)|p.M133fs*13(1)|p.C3S(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(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) GGCCAGTTGGCAAAACATCTT 0.572000 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) 37 182 0 0 1 0 0 NTNG1 22854 broad.mit.edu 37 1 107979392 107979392 + Missense_Mutation SNP C C T TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr1:107979392C>T ENST00000370068.1 + 7 2207 c.1361C>T c.(1360-1362)cCg>cTg p.P454L NTNG1_ENST00000370065.1_Intron|NTNG1_ENST00000370067.1_Intron|NTNG1_ENST00000370070.2_Intron|NTNG1_ENST00000370073.2_Missense_Mutation_p.P454L|NTNG1_ENST00000370072.3_Intron|NTNG1_ENST00000370066.1_Intron|NTNG1_ENST00000370071.2_Intron|NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000542803.1_Missense_Mutation_p.P454L|NTNG1_ENST00000370061.3_Missense_Mutation_p.P420L Q9Y2I2 NTNG1_HUMAN netrin G1 454 Laminin EGF-like 3. axonogenesis anchored to plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1) 37 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) GAGTGTCTGCCGGGAAATTCC 0.517000 32 177 0 0 1 0 0 RYBP 23429 broad.mit.edu 37 3 72427709 72427709 + Missense_Mutation SNP C C T TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr3:72427709C>T ENST00000477973.1 - 4 778 c.779G>A c.(778-780)aGa>aAa p.R260K NM_012234.5 NP_036366.3 Q8N488 RYBP_HUMAN RING1 and YY1 binding protein 0 apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleoplasm DNA binding|protein binding|transcription corepressor activity|zinc ion binding prostate(1)|upper_aerodigestive_tract(1) 2 Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204) BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232) TCCTTAAAGTCTGTGATAATG 0.552000 47 238 0 0 1 0 0 AXIN1 8312 broad.mit.edu 37 16 343713 343713 + Missense_Mutation SNP G G A TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr16:343713G>A ENST00000262320.3 - 8 2332 c.1961C>T c.(1960-1962)tCg>tTg p.S654L AXIN1_ENST00000354866.3_Missense_Mutation_p.S654L NM_003502.3 NP_003493.1 O15169 AXIN1_HUMAN axin 1 654 Interaction with PPP2CA.|Interaction with RNF111. activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2) 221 all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187) CCTCGTCCCCGAAGACCTTGG 0.637000 42 523 0 0 1 0 0 DYSF 8291 broad.mit.edu 37 2 71741003 71741003 + Missense_Mutation SNP T T A TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr2:71741003T>A ENST00000258104.3 + 6 892 c.615T>A c.(613-615)agT>agA p.S205R DYSF_ENST00000409651.1_Missense_Mutation_p.S237R|DYSF_ENST00000410041.1_Missense_Mutation_p.S237R|DYSF_ENST00000410020.3_Missense_Mutation_p.S237R|DYSF_ENST00000394120.2_Missense_Mutation_p.S206R|DYSF_ENST00000409762.1_Missense_Mutation_p.S236R|DYSF_ENST00000429174.2_Missense_Mutation_p.S205R|DYSF_ENST00000409366.1_Missense_Mutation_p.S206R|DYSF_ENST00000413539.2_Missense_Mutation_p.S236R|DYSF_ENST00000409582.3_Missense_Mutation_p.S236R|DYSF_ENST00000409744.1_Missense_Mutation_p.S206R NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 205 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 GAAAGCGAAGTGCGCCTACAT 0.582000 17 274 0 0 1 0 0 PCDH18 54510 broad.mit.edu 37 4 138451227 138451227 + Silent SNP C C T TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr4:138451227C>T ENST00000344876.4 - 1 2402 c.2016G>A c.(2014-2016)ctG>ctA p.L672L PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Silent_p.L452L|PCDH18_ENST00000412923.2_Silent_p.L672L NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 672 Cadherin 6. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) TCATGCACTTCAGAAGGACTT 0.423000 81 882 0 0 1 0 0 NPAP1 23742 broad.mit.edu 37 15 24921804 24921804 + Missense_Mutation SNP G G A rs138010778 byFrequency TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr15:24921804G>A ENST00000329468.2 + 1 1264 c.790G>A c.(790-792)Gag>Aag p.E264K NM_018958.2 NP_061831.2 nuclear pore associated protein 1 AGCGCCCCCTGAGCCAGCCGT 0.637000 56 336 0 0 1 0 0 FRMPD3 84443 broad.mit.edu 37 X 106845431 106845431 + Missense_Mutation SNP T T C TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chrX:106845431T>C ENST00000276185.4 + 16 4261 c.4261T>C c.(4261-4263)Tac>Cac p.Y1421H Q5JV73 FRPD3_HUMAN FERM and PDZ domain containing 3 1421 cytoskeleton breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1) 28 AGCTCCCAATTACAGGAAACT 0.617000 87 217 0 0 1 0 0 IGSF3 3321 broad.mit.edu 37 1 117158748 117158748 + Silent SNP A A G TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr1:117158748A>G ENST00000369486.3 - 3 1140 c.375T>C c.(373-375)acT>acC p.T125T IGSF3_ENST00000318837.6_Silent_p.T125T|IGSF3_ENST00000369483.1_Silent_p.T125T NM_001007237.1 NP_001007238.1 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 125 Ig-like C2-type 1. integral to membrane p.T125T(2) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 62 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166) ATTGCTTATCAGTGCTGGGTG 0.498000 7 265 0 0 1 0 0 GGT3P 0 broad.mit.edu 37 22 18769145 18769145 + RNA SNP G G A TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr22:18769145G>A ENST00000412448.1 - 0 1141 TGAGGCTGCCGTTGTAGAAGG 0.612000 10 131 0 0 1 0 0 AGAP2 116986 broad.mit.edu 37 12 58127884 58127884 + Missense_Mutation SNP G G A TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr12:58127884G>A ENST00000257897.3 - 5 551 c.466C>T c.(466-468)Cgt>Tgt p.R156C AGAP2_ENST00000547588.1_Missense_Mutation_p.R492C NM_014770.3 NP_055585.1 Q99490 AGAP2_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 492 axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction mitochondrion|nucleolus ARF GTPase activator activity|GTP binding|zinc ion binding p.R156S(1) breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1) 48 CCATGGAGACGGCTCACAGCC 0.592000 15 196 0 0 1 0 0 ABHD15 116236 broad.mit.edu 37 17 27889843 27889843 + Silent SNP G G A TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr17:27889843G>A ENST00000307201.4 - 2 1313 c.1143C>T c.(1141-1143)ttC>ttT p.F381F RP11-68I3.2_ENST00000581474.1_RNA NM_198147.2 NP_937790.2 Q6UXT9 ABH15_HUMAN abhydrolase domain containing 15 381 extracellular region carboxylesterase activity breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 10 GCAGGAGGAAGAAGTAGGGGT 0.617000 30 419 0 0 1 0 0 COL4A2 1284 broad.mit.edu 37 13 111121596 111121596 + Missense_Mutation SNP G G A TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr13:111121596G>A ENST00000360467.5 + 28 2434 c.2128G>A c.(2128-2130)Gca>Aca p.A710T NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 710 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) CCCAGGCTTCGCAGGAGCTGA 0.572000 14 64 0 0 1 0 0 CTD-3064M3.7 0 broad.mit.edu 37 8 142445279 142445279 + RNA SNP G G A TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr8:142445279G>A ENST00000606664.1 + 0 635 MROH5_ENST00000430863.1_RNA CCAGGCCAGCGTGCAGAAGAG 0.682000 40 168 0 0 1 0 0 FAM47A 158724 broad.mit.edu 37 X 34150323 34150323 + Silent SNP G G T TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chrX:34150323G>T ENST00000346193.3 - 1 124 c.73C>A c.(73-75)Cgg>Agg p.R25R NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 25 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 TTGGAAGGCCGTTTGTTACAG 0.612000 16 247 2.35188e-11 2.44853e-11 1 1 0 WDR47 22911 broad.mit.edu 37 1 109560150 109560150 + Missense_Mutation SNP C C A TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr1:109560150C>A ENST00000369965.4 - 3 492 c.232G>T c.(232-234)Gac>Tac p.D78Y WDR47_ENST00000400794.3_Missense_Mutation_p.D78Y|WDR47_ENST00000369962.3_Missense_Mutation_p.D78Y|WDR47_ENST00000361054.3_Intron|WDR47_ENST00000357672.3_Intron NM_001142550.1|NM_001142551.1|NM_014969.5 NP_001136022.1|NP_001136023.1|NP_055784.3 O94967 WDR47_HUMAN WD repeat domain 47 78 CTLH. breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822) Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244) CTTTTTTTGTCAAATTTTTCC 0.289000 47 309 1.35964e-18 1.44521e-18 1 1 0 ZNF761 388561 broad.mit.edu 37 19 53945909 53945909 + RNA SNP T T C rs28727441 by1000genomes TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr19:53945909T>C ENST00000454407.1 + 0 55 TPM3P9_ENST00000424846.3_RNA Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) ACCCTGACTCTGCCTGAGGCC 0.562000 16 258 0 0 1 0 0 KCNJ4 3761 broad.mit.edu 37 22 38823340 38823340 + Silent SNP G G A TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr22:38823340G>A ENST00000303592.3 - 2 1056 c.798C>T c.(796-798)gaC>gaT p.D266D RP3-434P1.6_ENST00000433230.1_RNA NM_004981.1|NM_152868.2 NP_004972.1|NP_690607.1 P48050 IRK4_HUMAN potassium inwardly-rectifying channel, subfamily J, member 4 266 synaptic transmission basolateral plasma membrane|voltage-gated potassium channel complex inward rectifier potassium channel activity|PDZ domain binding endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 23 Melanoma(58;0.0286) GGCTGTCCTCGTCGATCTCGT 0.607000 22 243 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102292797 102292797 + RNA SNP C C G TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr15:102292797C>G ENST00000561463.1 + 0 843 p.P129A(2) GAGCTGCTGTCCAACCTGCAC 0.597000 6 175 0 0 1 0 0 ZNF267 10308 broad.mit.edu 37 16 31926313 31926313 + Missense_Mutation SNP A A G TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr16:31926313A>G ENST00000300870.10 + 4 952 c.743A>G c.(742-744)gAa>gGa p.E248G RP11-170L3.8_ENST00000575471.1_RNA NM_001265588.1|NM_003414.5 NP_001252517.1|NP_003405.3 Q14586 ZN267_HUMAN zinc finger protein 267 248 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 41 AAATGTAAAGAATTTGAGGAA 0.303000 43 243 0 0 1 0 0 FAM179B 23116 broad.mit.edu 37 14 45431977 45431977 + Missense_Mutation SNP C C T TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr14:45431977C>T ENST00000361462.2 + 1 536 c.353C>T c.(352-354)gCt>gTt p.A118V FAM179B_ENST00000361577.3_Missense_Mutation_p.A118V|FAM179B_ENST00000382233.2_Missense_Mutation_p.A118V Q9Y4F4 F179B_HUMAN family with sequence similarity 179, member B 118 binding endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 45 GCTTTGCAAGCTGCTTTGCCG 0.617000 50 845 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 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.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 7 331 0 0 1 0 0 IL1RN 3557 broad.mit.edu 37 2 113885304 113885304 + Missense_Mutation SNP A A T TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr2:113885304A>T ENST00000259206.5 + 3 234 c.112A>T c.(112-114)Atg>Ttg p.M38L IL1RN_ENST00000409930.3_Missense_Mutation_p.M35L|IL1RN_ENST00000409052.1_Start_Codon_SNP_p.M1L|IL1RN_ENST00000361779.3_Start_Codon_SNP_p.M1L|IL1RN_ENST00000354115.2_Missense_Mutation_p.M17L NM_173841.2 NP_776213.1 P18510 IL1RA_HUMAN interleukin 1 receptor antagonist 35 immune response|inflammatory response|response to glucocorticoid stimulus centrosome|extracellular space|nucleus|plasma membrane cytokine activity|interleukin-1 receptor antagonist activity breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2) 10 Anakinra(DB00026) ATCCAGCAAGATGCAAGCCTT 0.562000 Lichen Sclerosis et Atrophicus, Familial Clustering of 38 302 0 0 1 0 0 RP11-14N7.2 0 broad.mit.edu 37 1 148932898 148932898 + RNA SNP C C T TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr1:148932898C>T ENST00000539543.1 + 0 154 NR_027355.1 GCTCAGTCTGCGGCCAAGACT 0.617000 14 876 0 0 1 0 0 PEAK1 79834 broad.mit.edu 37 15 77472919 77472919 + Missense_Mutation SNP T T C TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr15:77472919T>C ENST00000560626.2 - 4 1825 c.1350A>G c.(1348-1350)atA>atG p.I450M PEAK1_ENST00000312493.4_Missense_Mutation_p.I450M|PEAK1_ENST00000558305.1_Missense_Mutation_p.I450M Q9H792 PEAK1_HUMAN pseudopodium-enriched atypical kinase 1 450 cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding GGACAAGGTTTATGGTTACTG 0.463000 164 870 0 0 1 0 0 PLD3 0 broad.mit.edu 37 19 40882579 40882579 + Silent SNP C C T TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr19:40882579C>T ENST00000409587.1 + 11 1480 c.1083C>T c.(1081-1083)cgC>cgT p.R361R PLD3_ENST00000409419.1_Silent_p.R361R|PLD3_ENST00000409281.1_Silent_p.R361R|PLD3_ENST00000409735.4_Silent_p.R361R|PLD3_ENST00000356508.5_Silent_p.R361R Q8IV08 PLD3_HUMAN phospholipase D family, member 3 361 lipid catabolic process endoplasmic reticulum membrane|integral to membrane NAPE-specific phospholipase D activity|phospholipase D activity|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 20 Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248) TCAAGGTGCGCCTGCTCATCA 0.642000 79 313 0 0 1 0 0 DEFB136 613210 broad.mit.edu 37 8 11831528 11831528 + Missense_Mutation SNP G G A TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr8:11831528G>A ENST00000382209.2 - 2 154 c.155C>T c.(154-156)gCg>gTg p.A52V NM_001033018.2 NP_001028190.2 Q30KP8 DB136_HUMAN defensin, beta 136 52 defense response to bacterium extracellular region endometrium(2)|large_intestine(1)|lung(4) 7 STAD - Stomach adenocarcinoma(15;0.033) COAD - Colon adenocarcinoma(149;0.163) GTGGCAGAACGCAATCCACCT 0.458000 84 1080 0 0 1 0 0 MAP2K7 5609 broad.mit.edu 37 19 7976364 7976364 + Missense_Mutation SNP C C T TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr19:7976364C>T ENST00000545011.1 + 9 1171 c.1106C>T c.(1105-1107)aCg>aTg p.T369M MAP2K7_ENST00000397979.3_Missense_Mutation_p.T327M|MAP2K7_ENST00000397981.3_Missense_Mutation_p.T334M|MAP2K7_ENST00000397983.3_Missense_Mutation_p.T343M O14733 MP2K7_HUMAN mitogen-activated protein kinase kinase 7 327 Protein kinase. activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleus ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1) 19 Etoposide(DB00773) AACTGCAAGACGGACTTTGAG 0.592000 53 155 0 0 1 0 0 ADAD2 161931 broad.mit.edu 37 16 84229512 84229512 + Missense_Mutation SNP G G A rs142081193 byFrequency TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr16:84229512G>A ENST00000268624.3 + 8 1483 c.1390G>A c.(1390-1392)Gtg>Atg p.V464M RP11-486L19.2_ENST00000536986.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA|ADAD2_ENST00000315906.5_Missense_Mutation_p.V382M|RP11-486L19.2_ENST00000565643.1_RNA NM_139174.3 NP_631913.3 Q8NCV1 ADAD2_HUMAN adenosine deaminase domain containing 2 382 A to I editase. RNA processing intracellular adenosine deaminase activity|double-stranded RNA binding NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1) 13 TGTGTGCTACGTGGCGCCCTC 0.716000 12 159 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22663086 22663086 + RNA SNP T T G rs1054157 by1000genomes TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr22:22663086T>G ENST00000426066.1 + 0 525 NR_027293.1 AGCTGCCACATAAGTTGTCCT 0.299000 17 174 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75036840 75036840 + Silent SNP G G A TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr1:75036840G>A ENST00000326665.5 - 14 4772 c.4554C>T c.(4552-4554)agC>agT p.S1518S C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1518 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 CTGCAGTCTCGCTTTCTCCTT 0.493000 17 835 0 0 1 0 0 EXO1 9156 broad.mit.edu 37 1 242030320 242030320 + Silent SNP C C T TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr1:242030320C>T ENST00000366548.3 + 11 1823 c.1230C>T c.(1228-1230)ctC>ctT p.L410L EXO1_ENST00000518483.1_Silent_p.L410L|EXO1_ENST00000348581.5_Silent_p.L410L NM_130398.3 NP_569082.2 Q9UQ84 EXO1_HUMAN exonuclease 1 410 Interaction with MLH1. L -> R (abrogates exonuclease activity). meiosis|mismatch repair nucleus double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2) 45 Ovarian(103;0.103) all_cancers(173;0.0555) OV - Ovarian serous cystadenocarcinoma(106;0.0107) GGTTAAATCTCCCAAGGAAAT 0.408000 Editing and processing nucleases 11 301 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 9 361 0 0 1 0 0 PRR11 55771 broad.mit.edu 37 17 57270942 57270942 + Missense_Mutation SNP C C G TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr17:57270942C>G ENST00000262293.4 + 5 804 c.492C>G c.(490-492)atC>atG p.I164M NM_018304.3 NP_060774.2 Q96HE9 PRR11_HUMAN proline rich 11 164 breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1) 16 Medulloblastoma(34;0.0922)|all_neural(34;0.101) GCGTTCTGATCACCCCTGGAG 0.537000 64 614 0 0 1 0 0 RLTPR 146206 broad.mit.edu 37 16 67682804 67682804 + Silent SNP G G A TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr16:67682804G>A ENST00000334583.6 + 17 1846 c.1518G>A c.(1516-1518)tcG>tcA p.S506S RLTPR_ENST00000545661.1_Silent_p.S470S NM_001013838.1 NP_001013860.1 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing 506 breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2) 18 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) AGCTGCGCTCGGCCGGCGCCC 0.682000 4 77 0 0 1 0 0 HLA-A 3105 broad.mit.edu 37 6 29910607 29910607 + Silent SNP G G C rs72555397 TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr6:29910607G>C ENST00000396634.1 + 4 488 c.147G>C c.(145-147)gtG>gtC p.V49V HLA-A_ENST00000376802.2_Silent_p.V49V|HLA-A_ENST00000376809.5_Silent_p.V49V|HLA-A_ENST00000376806.5_Silent_p.V49V P30443 1A01_HUMAN major histocompatibility complex, class I, A 49 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity p.V49V(2) central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 TCATCGCCGTGGGCTACGTGG 0.692000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 8 196 0 0 1 0 0 PRODH2 58510 broad.mit.edu 37 19 36302895 36302895 + Missense_Mutation SNP T T A TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr19:36302895T>A ENST00000301175.3 - 5 811 c.794A>T c.(793-795)gAg>gTg p.E265V NM_021232.1 NP_067055.1 Q9UF12 PROD2_HUMAN proline dehydrogenase (oxidase) 2 265 glutamate biosynthetic process|proline catabolic process proline dehydrogenase activity haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) AGCCAGCCTCTCGGGGCTCAG 0.637000 16 258 0 0 1 0 0 DISC1 27185 broad.mit.edu 37 1 231830151 231830151 + Missense_Mutation SNP C C T rs139420445 byFrequency TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr1:231830151C>T ENST00000439617.2 + 2 700 c.647C>T c.(646-648)tCg>tTg p.S216L DISC1_ENST00000535983.1_Missense_Mutation_p.S216L|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000537876.1_Missense_Mutation_p.S216L|DISC1_ENST00000366637.3_5'UTR|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000317586.4_Missense_Mutation_p.S216L|DISC1_ENST00000539444.1_Missense_Mutation_p.S216L|DISC1_ENST00000366636.4_Missense_Mutation_p.S216L|DISC1_ENST00000366633.3_Missense_Mutation_p.S216L|DISC1_ENST00000602281.1_Missense_Mutation_p.S216L NM_001164537.1|NM_001164540.1|NM_018662.2 NP_001158009.1|NP_001158012.1|NP_061132.2 Q9NRI5 DISC1_HUMAN disrupted in schizophrenia 1 216 Interaction with MAP1A. microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway centrosome|microtubule protein binding breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 15 all_cancers(173;0.0208)|Prostate(94;0.0975) ATTCGGCTCTCGCTTGGCTCT 0.607000 28 365 0 0 1 0 0 CKMT2 1160 broad.mit.edu 37 5 80550266 80550266 + Missense_Mutation SNP G G A TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr5:80550266G>A ENST00000424301.2 + 5 641 c.403G>A c.(403-405)Gac>Aac p.D135N CTC-281B15.1_ENST00000503483.2_RNA|CKMT2_ENST00000437669.1_Missense_Mutation_p.D135N|CTC-281B15.1_ENST00000512287.1_RNA|CTC-281B15.1_ENST00000505295.1_RNA|CTC-281B15.1_ENST00000502041.2_RNA|CTC-281B15.1_ENST00000511495.1_RNA|CTC-281B15.1_ENST00000500148.2_RNA|CKMT2_ENST00000254035.4_Missense_Mutation_p.D135N|CTC-281B15.1_ENST00000501927.2_RNA NM_001825.2 NP_001816.2 P17540 KCRS_HUMAN creatine kinase, mitochondrial 2 (sarcomeric) 135 creatine metabolic process|muscle contraction mitochondrial inner membrane ATP binding|creatine kinase activity breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1) 17 Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336) OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34) Creatine(DB00148) CAACGGCTATGACCCCAGGGT 0.532000 25 347 0 0 1 0 0 RSU1 6251 broad.mit.edu 37 10 16794556 16794556 + Missense_Mutation SNP C C T TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr10:16794556C>T ENST00000377921.3 - 6 881 c.580G>A c.(580-582)Gtt>Att p.V194I RSU1_ENST00000602389.1_Missense_Mutation_p.V141I|RSU1_ENST00000464074.2_5'UTR|RSU1_ENST00000345264.5_Missense_Mutation_p.V194I Q15404 RSU1_HUMAN Ras suppressor protein 1 194 cell junction assembly|signal transduction cytosol protein binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|stomach(1)|upper_aerodigestive_tract(1) 14 GBM - Glioblastoma multiforme(1;7.54e-08) GGGGGCAGAACGGTGAGGCGG 0.468000 55 658 0 0 1 0 0 PRAMEF4 400735 broad.mit.edu 37 1 12943068 12943068 + Missense_Mutation SNP G G A TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr1:12943068G>A ENST00000235349.5 - 2 218 c.148C>T c.(148-150)Cgc>Tgc p.R50C NM_001009611.2 NP_001009611.1 O60810 PRAM4_HUMAN PRAME family member 4 50 p.R50C(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1) 24 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GCCTCACAGCGTCTCCTGCTG 0.607000 79 765 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr12:25398284C>T ENST00000311936.3 - 2 226 c.35G>A c.(34-36)gGt>gAt p.G12D KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 21 90 0 0 1 0 0 APBA2 321 broad.mit.edu 37 15 29346316 29346316 + Missense_Mutation SNP G G A rs140795962 TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr15:29346316G>A ENST00000558402.1 + 5 828 c.229G>A c.(229-231)Gtg>Atg p.V77M APBA2_ENST00000558259.1_Missense_Mutation_p.V77M|APBA2_ENST00000561069.1_Missense_Mutation_p.V77M|APBA2_ENST00000411764.1_Missense_Mutation_p.V77M|APBA2_ENST00000558330.1_Missense_Mutation_p.V77M Q99767 APBA2_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 2 77 nervous system development|protein transport protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1) 59 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) CTCTGACTACGTGAACAACAC 0.637000 123 761 0 0 1 0 0 PRODH2 58510 broad.mit.edu 37 19 36303115 36303115 + Missense_Mutation SNP C C A TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr19:36303115C>A ENST00000301175.3 - 4 676 c.659G>T c.(658-660)gGc>gTc p.G220V NM_021232.1 NP_067055.1 Q9UF12 PROD2_HUMAN proline dehydrogenase (oxidase) 2 220 glutamate biosynthetic process|proline catabolic process proline dehydrogenase activity haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CTCCAGGAGGCCCCGTGACAG 0.652000 42 392 3.61848e-18 3.8195e-18 1 1 0 KDM5B 10765 broad.mit.edu 37 1 202714993 202714993 + Silent SNP C C T TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr1:202714993C>T ENST00000367265.3 - 16 3480 c.2316G>A c.(2314-2316)aaG>aaA p.K772K KDM5B_ENST00000367264.2_Silent_p.K808K NM_006618.3 NP_006609.3 Q9UGL1 KDM5B_HUMAN lysine (K)-specific demethylase 5B 772 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(2)|ovary(2)|skin(1)|urinary_tract(1) 6 TACTTTTCTTCTTGTTGATCT 0.383000 73 811 0 0 1 0 0 CCDC116 164592 broad.mit.edu 37 22 21991276 21991276 + Missense_Mutation SNP G G T TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr22:21991276G>T ENST00000292779.3 + 5 1920 c.1759G>T c.(1759-1761)Gat>Tat p.D587Y NM_152612.2 NP_689825.2 Q8IYX3 CC116_HUMAN coiled-coil domain containing 116 0 endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5) 22 Colorectal(54;0.105) TGAGGGCCGTGATAAAGCCGA 0.557000 32 410 6.04164e-23 6.46711e-23 1 1 0 NCOR1P1 0 broad.mit.edu 37 20 26084295 26084295 + RNA SNP C C T rs76611503 by1000genomes TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr20:26084295C>T ENST00000478176.1 - 0 162 NR_003678.1 p.G41R(1) TGTTTGCCTCCAAATGCTGGA 0.373000 11 287 0 0 1 0 0 RP1-37N7.4 0 broad.mit.edu 37 17 18333915 18333915 + RNA SNP C C T rs148961204 by1000genomes TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr17:18333915C>T ENST00000580052.1 + 0 43 KRT17P2_ENST00000326333.8_RNA CAGAGAACCGCTACTGCATGC 0.612000 6 142 0 0 1 0 0 CHAT 1103 broad.mit.edu 37 10 50833616 50833616 + Missense_Mutation SNP G G A rs146236256 TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr10:50833616G>A ENST00000395562.2 + 7 1073 c.604G>A c.(604-606)Ggc>Agc p.G202S CHAT_ENST00000339797.1_Missense_Mutation_p.G166S|CHAT_ENST00000395559.2_Missense_Mutation_p.G166S|CHAT_ENST00000455728.2_Missense_Mutation_p.G166S|CHAT_ENST00000351556.3_Missense_Mutation_p.G166S|CHAT_ENST00000337653.2_Missense_Mutation_p.G284S NM_001142933.1|NM_001142934.1 NP_001136405.1|NP_001136406.1 P28329 CLAT_HUMAN choline O-acetyltransferase 284 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1) 56 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) CCGGCTCCCCGGCCATACCCA 0.592000 15 71 0 0 1 0 0 PRODH2 58510 broad.mit.edu 37 19 36302896 36302896 + Nonsense_Mutation SNP C C A TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr19:36302896C>A ENST00000301175.3 - 5 810 c.793G>T c.(793-795)Gag>Tag p.E265* NM_021232.1 NP_067055.1 Q9UF12 PROD2_HUMAN proline dehydrogenase (oxidase) 2 265 glutamate biosynthetic process|proline catabolic process proline dehydrogenase activity haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GCCAGCCTCTCGGGGCTCAGC 0.637000 17 256 4.14922e-12 4.34952e-12 1 1 0 PRR11 55771 broad.mit.edu 37 17 57270937 57270937 + Silent SNP C C T TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr17:57270937C>T ENST00000262293.4 + 5 799 c.487C>T c.(487-489)Ctg>Ttg p.L163L NM_018304.3 NP_060774.2 Q96HE9 PRR11_HUMAN proline rich 11 163 breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1) 16 Medulloblastoma(34;0.0922)|all_neural(34;0.101) TGCCTGCGTTCTGATCACCCC 0.532000 61 623 0 0 1 0 0 SEPSECS 51091 broad.mit.edu 37 4 25158572 25158572 + Silent SNP G G A TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr4:25158572G>A ENST00000382103.2 - 3 366 c.294C>T c.(292-294)tcC>tcT p.S98S SEPSECS_ENST00000302922.3_Silent_p.S19S NM_016955.3 NP_058651.3 Q9HD40 SPCS_HUMAN Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase 98 S -> P (in Ref. 8; AAG00491). selenocysteine incorporation cytoplasm|nucleus pyridoxal phosphate binding|transferase activity, transferring selenium-containing groups|tRNA binding endometrium(1)|large_intestine(4)|lung(2)|stomach(1) 8 Breast(46;0.173) Pyridoxal Phosphate(DB00114) AAATATCACCGGATCGTCCAA 0.398000 77 383 0 0 1 0 0 PRL 5617 broad.mit.edu 37 6 22294688 22294688 + Missense_Mutation SNP C C T TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr6:22294688C>T ENST00000306482.1 - 2 672 c.154G>A c.(154-156)Gtc>Atc p.V52I RP3-404K8.2_ENST00000561912.1_RNA NM_000948.5|NM_001163558.2 NP_000939.1|NP_001157030.1 P01236 PRL_HUMAN prolactin 52 cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth cytosol|extracellular region hormone activity|prolactin receptor binding NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1) 16 Ovarian(93;0.163) TGGGACAGGACGACGGCGCGG 0.582000 43 336 0 0 1 0 0 PCDHA3 0 broad.mit.edu 37 5 140180975 140180975 + Missense_Mutation SNP C C T TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr5:140180975C>T ENST00000522353.2 + 1 193 c.193C>T c.(193-195)Cgg>Tgg p.R65W PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.R65W NM_018906.2 NP_061729.1 NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGCCTGTTCCGGGTGGCGTC 0.617000 61 931 0 0 1 0 0 SKP2 6502 broad.mit.edu 37 5 36170522 36170522 + Missense_Mutation SNP A A G TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr5:36170522A>G ENST00000274255.6 + 6 944 c.748A>G c.(748-750)Act>Gct p.T250A SKP2_ENST00000546211.1_Missense_Mutation_p.T36A|SKP2_ENST00000508514.1_Intron|SKP2_ENST00000274254.5_Missense_Mutation_p.T250A NM_005983.3 NP_005974.2 Q13309 SKP2_HUMAN S-phase kinase-associated protein 2, E3 ubiquitin protein ligase 250 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle nucleoplasm|SCF ubiquitin ligase complex protein binding breast(1)|central_nervous_system(2)|ovary(1) 4 all_lung(31;5.63e-05) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TGCCCTGCAGACTTTGCTAAG 0.383000 25 418 0 0 1 0 0 GABRG2 0 broad.mit.edu 37 5 161576159 161576159 + Missense_Mutation SNP G G A TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr5:161576159G>A ENST00000356592.3 + 8 1428 c.968G>A c.(967-969)cGg>cAg p.R323Q GABRG2_ENST00000361925.4_Missense_Mutation_p.R323Q|GABRG2_ENST00000414552.2_Missense_Mutation_p.R363Q|GABRG2_ENST00000393933.4_Missense_Mutation_p.R228Q NM_000816.3|NM_198904.2 NP_000807.2|NP_944494.1 P18507 GBRG2_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 2 323 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 62 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) ACCATTGCCCGGAAATCGCTC 0.473000 40 418 0 0 1 0 0 OR1D2 4991 broad.mit.edu 37 17 2996105 2996105 + Silent SNP G G A TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr17:2996105G>A ENST00000331459.1 - 1 185 c.186C>T c.(184-186)ttC>ttT p.F62F NM_002548.2 NP_002539.2 P34982 OR1D2_HUMAN olfactory receptor, family 1, subfamily D, member 2 62 cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity kidney(2)|large_intestine(2)|lung(10)|ovary(1) 15 GGTTGGCCAGGAAGAAGTACA 0.537000 79 819 0 0 1 0 0 SLC16A10 117247 broad.mit.edu 37 6 111498424 111498424 + Missense_Mutation SNP G G C TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr6:111498424G>C ENST00000368851.5 + 3 673 c.498G>C c.(496-498)gaG>gaC p.E166D SLC16A10_ENST00000465319.1_3'UTR|SLC16A10_ENST00000368850.3_5'UTR NM_018593.4 NP_061063.2 Q8TF71 MOT10_HUMAN solute carrier family 16 (aromatic amino acid transporter), member 10 166 aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport basolateral plasma membrane|integral to membrane amino acid transmembrane transporter activity endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2) 12 all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466) OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132) GTTCCATCGAGCCTCTGTACC 0.398000 45 383 0 0 1 0 0 MYLK 4638 broad.mit.edu 37 3 123383037 123383037 + Silent SNP C C T TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr3:123383037C>T ENST00000360772.3 - 24 4278 c.3900G>A c.(3898-3900)gcG>gcA p.A1300A MYLK_ENST00000360304.3_Silent_p.A1300A|MYLK_ENST00000359169.1_Silent_p.A1300A|MYLK_ENST00000346322.5_Silent_p.A1231A|MYLK_ENST00000475616.1_Silent_p.A1300A|MYLK_ENST00000354792.5_Silent_p.A100A Q15746 MYLK_HUMAN myosin light chain kinase 1300 Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 8. A -> G (in Ref. 1; CAA59685). aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) GCTCCTGGCGCGCGGCCAGGA 0.627000 108 1310 0 0 1 0 0 MYO1G 64005 broad.mit.edu 37 7 45003667 45003667 + Missense_Mutation SNP C C T TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr7:45003667C>T ENST00000258787.7 - 20 2862 c.2726G>A c.(2725-2727)cGg>cAg p.R909Q NM_033054.2 NP_149043.2 B0I1T2 MYO1G_HUMAN myosin IG 909 myosin complex|plasma membrane actin binding|ATP binding|calmodulin binding|motor activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4) 28 GGGCACGGCCCGCATCACCCG 0.637000 7 40 0 0 1 0 0 MSRB3 253827 broad.mit.edu 37 12 65857005 65857005 + Missense_Mutation SNP C C T TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr12:65857005C>T ENST00000308259.5 + 7 735 c.461C>T c.(460-462)tCg>tTg p.S154L MSRB3_ENST00000355192.3_Missense_Mutation_p.S161L|MSRB3_ENST00000535664.1_Missense_Mutation_p.S154L NM_001031679.2|NM_001193460.1 NP_001026849.1|NP_001180389.1 Q8IXL7 MSRB3_HUMAN methionine sulfoxide reductase B3 161 protein repair endoplasmic reticulum|mitochondrion peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding p.S161L(1)|p.S154L(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1) 13 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.131) TGCATAAATTCGGCTGCCTTG 0.547000 82 507 0 0 1 0 0 NUDT2 318 broad.mit.edu 37 9 34343390 34343390 + Missense_Mutation SNP G G T TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr9:34343390G>T ENST00000379158.2 + 5 754 c.396G>T c.(394-396)aaG>aaT p.K132N NUDT2_ENST00000379155.5_Missense_Mutation_p.K132N|NUDT2_ENST00000346365.4_Missense_Mutation_p.K132N NM_001161.4 NP_001152.1 P50583 AP4A_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 2 132 Nudix hydrolase. induction of apoptosis|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity|GTP binding lung(3) 3 LUSC - Lung squamous cell carcinoma(29;0.0107) GBM - Glioblastoma multiforme(74;0.126) AGGAGATGAAGGCAGCGCTCC 0.567000 11 299 1.58986e-06 1.62187e-06 1 1 0 GPR15 2838 broad.mit.edu 37 3 98251438 98251438 + Missense_Mutation SNP G G C TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr3:98251438G>C ENST00000284311.3 + 1 696 c.561G>C c.(559-561)aaG>aaC p.K187N NM_005290.1 NP_005281.1 P49685 GPR15_HUMAN G protein-coupled receptor 15 187 integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled p.K187N(1) endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255) Lung(72;0.246) CAGAGAAAAAGGCAACTCCAA 0.473000 45 626 0 0 1 0 0 MTG2 26164 broad.mit.edu 37 20 60774235 60774235 + Missense_Mutation SNP G G A TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr20:60774235G>A ENST00000370823.3 + 6 766 c.748G>A c.(748-750)Gcc>Acc p.A250T MTG2_ENST00000436421.2_Intron|MTG2_ENST00000536470.1_Missense_Mutation_p.A22T NM_015666.3 NP_056481.1 mitochondrial ribosome-associated GTPase 2 CGCCAGACCCGCCGTGGCTTC 0.622000 72 176 0 0 1 0 0 CCDC61 729440 broad.mit.edu 37 19 46506729 46506729 + Silent SNP C C T TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr19:46506729C>T ENST00000263284.2 + 4 372 c.372C>T c.(370-372)ttC>ttT p.F124F CCDC61_ENST00000595358.1_Silent_p.F67F|CCDC61_ENST00000594087.1_Silent_p.F67F|CCDC61_ENST00000536603.1_Silent_p.F67F coiled-coil domain containing 61 endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1) 13 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164) TCAACATCTTCTGTCATATGC 0.567000 37 156 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11058247 11058247 + RNA SNP G G A TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr21:11058247G>A ENST00000470054.1 - 0 400 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TGCAGCACAAGGATAATGATA 0.433000 17 564 0 0 1 0 0 AJAP1 55966 broad.mit.edu 37 1 4772583 4772585 + In_Frame_Del DEL CCA CCA - rs141981296 byFrequency TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 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 10 199 --- --- --- --- DNAJC11 55735 broad.mit.edu 37 1 6727803 6727804 + Frame_Shift_Del DEL TC TC - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 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_ENST00000377573.5_Frame_Shift_Del_p.E26fs|DNAJC11_ENST00000542246.1_Frame_Shift_Del_p.E78fs 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 12 246 --- --- --- --- AADACL3 126767 broad.mit.edu 37 1 12785492 12785493 + Frame_Shift_Ins INS - - T TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr1:12785492_12785493insT ENST00000332530.3 + 3 598_599 c.372_373insT c.(370-375)tagtttfs p.*F124fs AADACL3_ENST00000359318.5_Frame_Shift_Ins_p.*F194fs NM_001103169.1 NP_001096639.1 Q5VUY0 ADCL3_HUMAN arylacetamide deacetylase-like 3 194 hydrolase activity breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 15 Ovarian(185;0.249) Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) TCATCTGCTACTGTTTTTTTCA 0.455 15 1189 --- --- --- --- AADACL3 126767 broad.mit.edu 37 1 12785494 12785494 + Frame_Shift_Del DEL G G - rs7513079 by1000genomes TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr1:12785494delG ENST00000332530.3 + 3 600 c.374delG c.(373-375)ttfs p.C125fs AADACL3_ENST00000359318.5_Frame_Shift_Del_p.C195fs NM_001103169.1 NP_001096639.1 Q5VUY0 ADCL3_HUMAN arylacetamide deacetylase-like 3 195 hydrolase activity breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 15 Ovarian(185;0.249) Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) ATCTGCTACTGTTTTTTTCAA 0.458 8 1185 --- --- --- --- CCDC28B 79140 broad.mit.edu 37 1 32670247 32670248 + Frame_Shift_Del DEL TG TG - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr1:32670247_32670248delTG ENST00000421922.2 + 5 674_675 c.574_575delTG c.(574-576)tfs p.C192fs CCDC28B_ENST00000483009.1_Intron|CCDC28B_ENST00000373602.5_Intron Q9BUN5 CC28B_HUMAN coiled-coil domain containing 28B 0 large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2) 10 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) AACCCGTCTATGTGTGTGTGTT 0.500 10 1321 --- --- --- --- ZMYM4 9202 broad.mit.edu 37 1 35846959 35846960 + Frame_Shift_Ins INS - - A TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr1:35846959_35846960insA ENST00000314607.6 + 8 1361_1362 c.1281_1282insA c.(1279-1284)ctaaaafs p.LK427fs ZMYM4_ENST00000373297.2_Frame_Shift_Ins_p.LK427fs NM_005095.2 NP_005086.2 Q5VZL5 ZMYM4_HUMAN zinc finger, MYM-type 4 427 multicellular organismal development DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2) 54 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CATATGAACTGAAAAAAAAACC 0.342 14 488 --- --- --- --- TMCO2 127391 broad.mit.edu 37 1 40713708 40713709 + Frame_Shift_Del DEL TC TC - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr1:40713708_40713709delTC ENST00000372766.3 + 1 136_137 c.43_44delTC c.(43-45)tfs p.S15fs TMCO2_ENST00000468258.1_Intron NM_001008740.3 NP_001008740.1 Q7Z6W1 TMCO2_HUMAN transmembrane and coiled-coil domains 2 15 integral to membrane kidney(1)|large_intestine(3)|lung(1)|ovary(1) 6 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;6.3e-18) CCTCTTAGAGTCTCTCTCTCTC 0.406 24 1297 --- --- --- --- IPP 3652 broad.mit.edu 37 1 46184897 46184898 + Frame_Shift_Del DEL AC AC - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr1:46184897_46184898delAC ENST00000396478.3 - 6 1265_1266 c.1163_1164delGT c.(1162-1164)tfs p.C388fs NM_005897.2 NP_005888.1 Q9Y573 IPP_HUMAN intracisternal A particle-promoted polypeptide 388 actin cytoskeleton|cytoplasm actin binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2) 20 Acute lymphoblastic leukemia(166;0.155) TAGCCCCATAACACACACACAC 0.347 18 412 --- --- --- --- CYP4Z2P 0 broad.mit.edu 37 1 47325282 47325282 + RNA DEL A A - rs10712628 TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr1:47325282delA ENST00000505841.1 - 0 1204 NR_002788.2 ATTTCAATCCAAACATAGCTG 0.393 7 252 --- --- --- --- ZCCHC11 23318 broad.mit.edu 37 1 52991653 52991653 + Frame_Shift_Del DEL T T - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr1:52991653delT ENST00000371544.3 - 2 562 c.300delA c.(298-300)aafs p.K100fs ZCCHC11_ENST00000355809.4_Frame_Shift_Del_p.K100fs|ZCCHC11_ENST00000257177.4_Frame_Shift_Del_p.K100fs NM_001009881.2|NM_015269.2 NP_001009881.1|NP_056084.1 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 100 miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 AATTAGGAAATTTTTTTGCTT 0.388 9 1174 --- --- --- --- NDC1 55706 broad.mit.edu 37 1 54298190 54298192 + In_Frame_Del DEL TTA TTA - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr1:54298190_54298192delTTA ENST00000371429.3 - 3 849_851 c.251_253delTAA c.(250-255)agt>a p.IS84del NDC1_ENST00000480952.1_5'UTR|NDC1_ENST00000234725.8_5'UTR|NDC1_ENST00000540001.1_In_Frame_Del_p.IS84del|NDC1_ENST00000537333.1_5'UTR NM_001168551.1|NM_018087.4 NP_001162023.1|NP_060557.3 NDC1 transmembrane nucleoporin TTGAAAATACTTATTATTATTAT 0.305 7 240 --- --- --- --- USP1 7398 broad.mit.edu 37 1 62916272 62916272 + Frame_Shift_Del DEL A A - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr1:62916272delA ENST00000339950.4 + 9 2793 c.1978delA c.(1978-1980)aafs p.K661fs USP1_ENST00000371146.1_Frame_Shift_Del_p.K661fs NM_003368.4 NP_003359.3 O94782 UBP1_HUMAN ubiquitin specific peptidase 1 661 DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process nucleoplasm cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1) 19 all_neural(321;0.0281) BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535) AGTTTTGAACAAAAAAAATGT 0.373 9 444 --- --- --- --- BCL10 8915 broad.mit.edu 37 1 85736511 85736511 + Frame_Shift_Del DEL T T - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr1:85736511delT ENST00000370580.1 - 2 873 c.136delA c.(136-138)tafs p.I46fs NM_003921.4 NP_003912.1 O95999 BCL10_HUMAN B-cell CLL/lymphoma 10 46 CARD. apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding p.I46fs*4(1) haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 19 all cancers(265;0.0114)|Epithelial(280;0.0311) CTACTGAGTATTTTTTTTGCA 0.343 T IGH@ MALT 7 652 --- --- --- --- RP11-782C8.2 0 broad.mit.edu 37 1 143210193 143210194 + RNA INS - - T TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr1:143210193_143210194insT ENST00000412204.2 - 0 876_877 RP11-782C8.1_ENST00000438000.1_lincRNA GGCAGCATTTGTTTTTTTAACA 0.317 14 283 --- --- --- --- PBXIP1 57326 broad.mit.edu 37 1 154917508 154917510 + In_Frame_Del DEL GGT GGT - rs143592003 TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr1:154917508_154917510delGGT ENST00000368463.3 - 11 2257_2259 c.2186_2188delACC c.(2185-2190)cgg>c p.HR729del PBXIP1_ENST00000539880.1_In_Frame_Del_p.HR556del|PBXIP1_ENST00000542459.1_In_Frame_Del_p.HR574del|PBXIP1_ENST00000368465.1_In_Frame_Del_p.HR700del NM_020524.2 NP_065385.2 Q96AQ6 PBIP1_HUMAN pre-B-cell leukemia homeobox interacting protein 1 729 His-rich. cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent cytosol|microtubule|nucleus protein binding|transcription corepressor activity breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1) 24 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) TGTCAGCCCCGGTGGTGGTGGTG 0.640 7 565 --- --- --- --- APOA1BP 128240 broad.mit.edu 37 1 156562376 156562376 + Frame_Shift_Del DEL A A - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr1:156562376delA ENST00000368235.3 + 4 473 c.430delA c.(430-432)aafs p.K144fs APOA1BP_ENST00000368234.3_Frame_Shift_Del_p.K144fs|APOA1BP_ENST00000467374.1_3'UTR|APOA1BP_ENST00000368233.3_Frame_Shift_Del_p.K144fs NM_144772.2 NP_658985.2 Q8NCW5 AIBP_HUMAN apolipoprotein A-I binding protein 144 YjeF N-terminal. extracellular region protein binding central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1) 9 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CTATTACCCCAAAAGGCCTAA 0.567 7 1624 --- --- --- --- OR10Z1 128368 broad.mit.edu 37 1 158576487 158576487 + Frame_Shift_Del DEL G G - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr1:158576487delG ENST00000361284.1 + 1 259 c.259delG c.(259-261)ggfs p.G88fs NM_001004478.1 NP_001004478.1 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, member 1 88 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4) 37 all_hematologic(112;0.0378) TGGCCTGGCTGGGGGGGACCA 0.552 11 1631 --- --- --- --- PRG4 10216 broad.mit.edu 37 1 186276283 186276285 + In_Frame_Del DEL ACT ACT - rs146673354 byFrequency TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr1:186276283_186276285delACT ENST00000445192.2 + 7 1477_1479 c.1432_1434delACT c.(1432-1434)del p.T478del PRG4_ENST00000367485.4_In_Frame_Del_p.T385del|PRG4_ENST00000367486.3_In_Frame_Del_p.T435del|PRG4_ENST00000367483.4_In_Frame_Del_p.T437del|PRG4_ENST00000367484.3_Intron NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 478 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity p.P479delP(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 TGCACCCACCACTCCCAAAGAGC 0.655 10 634 --- --- --- --- GPR37L1 9283 broad.mit.edu 37 1 202097525 202097527 + In_Frame_Del DEL CTG CTG - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr1:202097525_202097527delCTG ENST00000367282.4 + 2 1393_1395 c.1287_1289delCTG c.(1285-1290)gac>ga p.DC429del NM_004767.3 NP_004758.3 O60883 ETBR2_HUMAN G protein-coupled receptor 37 like 1 429 Cys-rich. integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2) 18 CCTTCCTGGActgctgctgctgc 0.626 7 210 --- --- --- --- ACBD3 64746 broad.mit.edu 37 1 226352490 226352491 + Splice_Site INS - - T TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr1:226352490_226352491insT ENST00000366812.5 - 3 622_623 c.569_splice c.e3+1 p.E190_splice NM_022735.3 NP_073572.2 Q9H3P7 GCP60_HUMAN acyl-CoA binding domain containing 3 190 Glu-rich. steroid biosynthetic process|transport Golgi membrane|integral to membrane|mitochondrion fatty-acyl-CoA binding|protein binding breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2) 20 Breast(184;0.158) GBM - Glioblastoma multiforme(131;0.121) CAAACTTCACCTTTTTTTTTCT 0.411 10 483 --- --- --- --- AGT 183 broad.mit.edu 37 1 230839055 230839055 + Frame_Shift_Del DEL A A - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr1:230839055delA ENST00000366667.4 - 5 1504 c.1290delT c.(1288-1290)ttfs p.F430fs NM_000029.3 NP_000020.1 P01019 ANGT_HUMAN angiotensinogen (serpin peptidase inhibitor, clade A, member 8) 430 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation extracellular space|soluble fraction acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5) 25 Breast(184;0.0735)|Ovarian(103;0.183) all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167) GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641) CTTCAAGCTCAAAAAAAATGC 0.562 10 651 --- --- --- --- ARV1 64801 broad.mit.edu 37 1 231131567 231131567 + Frame_Shift_Del DEL A A - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr1:231131567delA ENST00000310256.2 + 4 567 c.510delA c.(508-510)gcfs p.A170fs ARV1_ENST00000366658.2_Frame_Shift_Del_p.A130fs|ARV1_ENST00000497753.1_3'UTR NM_022786.1 NP_073623.1 Q9H2C2 ARV1_HUMAN ARV1 homolog (S. cerevisiae) 170 sphingolipid metabolic process integral to membrane breast(3)|large_intestine(2)|lung(2) 7 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233) CCATGACGGCAAAAAAAAAGC 0.383 32 522 --- --- --- --- OR2T10 127069 broad.mit.edu 37 1 248756363 248756363 + Frame_Shift_Del DEL T T - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr1:248756363delT ENST00000330500.2 - 1 737 c.707delA c.(706-708)agfs p.K236fs NM_001004693.1 NP_001004693.1 Q8NGZ9 O2T10_HUMAN olfactory receptor, family 2, subfamily T, member 10 236 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1) 26 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GGTGAAGGCCTTTTTCCGACC 0.478 7 494 --- --- --- --- C2orf71 388939 broad.mit.edu 37 2 29295647 29295649 + In_Frame_Del DEL TCC TCC - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr2:29295647_29295649delTCC ENST00000331664.5 - 1 1478_1480 c.1479_1481delGGA c.(1477-1482)gaa>ga p.EE493del NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 493 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 CATTTTGTCTTCCTCCTCCTCCT 0.542 8 877 --- --- --- --- DHX57 90957 broad.mit.edu 37 2 39095411 39095413 + In_Frame_Del DEL CCA CCA - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr2:39095411_39095413delCCA ENST00000295373.6 - 2 261_263 c.135_137delTGG c.(133-138)gga>gg p.GG47del NM_198963.1 NP_945314.1 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 47 Gly-rich. ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_hematologic(82;0.248) Gccgccacctccaccaccaccac 0.532 10 600 --- --- --- --- PSME4 23198 broad.mit.edu 37 2 54093344 54093345 + Frame_Shift_Ins INS - - T TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr2:54093344_54093345insT ENST00000404125.1 - 46 5468_5469 c.5413_5414insA c.(5413-5415)cttfs p.L1805fs PSME4_ENST00000421748.2_Frame_Shift_Ins_p.L949fs|PSME4_ENST00000476586.1_5'UTR NM_014614.2 NP_055429.2 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator subunit 4 1805 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding p.T1691fs*>39(1) breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2) 60 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) ATTGGATAAGGTTTTTTTTACA 0.401 7 659 --- --- --- --- CCDC88A 55704 broad.mit.edu 37 2 55549818 55549818 + Frame_Shift_Del DEL T T - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr2:55549818delT ENST00000436346.1 - 18 3849 c.3008delA c.(3007-3009)atfs p.N1003fs CCDC88A_ENST00000263630.8_Frame_Shift_Del_p.N1003fs|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000413716.2_Frame_Shift_Del_p.N1002fs|CCDC88A_ENST00000336838.6_Frame_Shift_Del_p.N1002fs NM_001135597.1|NM_001254943.1 NP_001129069.1|NP_001241872.1 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A 1003 activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 69 AGCTTCATAATTTTTTTTCAC 0.353 7 420 --- --- --- --- CHMP3 51652 broad.mit.edu 37 2 86732976 86732978 + In_Frame_Del DEL TCC TCC - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr2:86732976_86732978delTCC ENST00000263856.4 - 6 746_748 c.618_620delGGA c.(616-621)gaa>ga p.EE206del CHMP3_ENST00000439940.2_In_Frame_Del_p.EE235del|CHMP3_ENST00000409727.1_In_Frame_Del_p.EE166del|CHMP3_ENST00000409225.2_In_Frame_Del_p.EE140del|RNF103-CHMP3_ENST00000604011.1_In_Frame_Del_p.EE235del NM_001193517.1|NM_016079.3 NP_001180446.1|NP_057163.1 charged multivesicular body protein 3 CAGAGCCTCTTCCTCCTCCTCCT 0.616 7 512 --- --- --- --- KRCC1 51315 broad.mit.edu 37 2 88327536 88327536 + Frame_Shift_Del DEL T T - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr2:88327536delT ENST00000347055.3 - 4 940 c.547delA c.(547-549)gcfs p.S183fs NM_016618.1 NP_057702.1 Q9NPI7 KRCC1_HUMAN lysine-rich coiled-coil 1 183 Lys-rich. p.S183fs*7(1) cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1) 7 TCCTCGCAGCTTTTTTTTCTC 0.413 10 819 --- --- --- --- ANKRD36BP2 0 broad.mit.edu 37 2 89082220 89082223 + RNA DEL TGAT TGAT - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr2:89082220_89082223delTGAT ENST00000393525.3 + 0 474 TGTGTACATATGATTGATTATGTA 0.328 7 196 --- --- --- --- AC027612.3 0 broad.mit.edu 37 2 91886069 91886070 + RNA DEL AA AA - rs139888358 by1000genomes TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr2:91886069_91886070delAA ENST00000436174.1 - 0 777 CAGAAAAGGTAAAGTGTATTTA 0.282 9 382 --- --- --- --- IL1R2 7850 broad.mit.edu 37 2 102638648 102638649 + Splice_Site INS - - A TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr2:102638648_102638649insA ENST00000332549.3 + 6 917_918 c.e6-1 IL1R2_ENST00000393414.2_Splice_Site|IL1R2_ENST00000441002.1_Splice_Site NM_004633.3 NP_004624.1 P27930 IL1R2_HUMAN interleukin 1 receptor, type II immune response integral to membrane|plasma membrane interleukin-1, Type II, blocking receptor activity breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1) 28 Anakinra(DB00026) ATCTTTCTCAGAAAAAAAAGAA 0.441 8 663 --- --- --- --- SEPT10 151011 broad.mit.edu 37 2 110301828 110301828 + Frame_Shift_Del DEL T T - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr2:110301828delT ENST00000356688.4 - 12 1821 c.1506delA c.(1504-1506)aafs p.K502fs SEPT10_ENST00000334001.6_3'UTR|SEPT10_ENST00000397712.2_3'UTR|SEPT10_ENST00000397714.2_3'UTR|SEPT10_ENST00000437928.1_3'UTR Q9P0V9 SEP10_HUMAN septin 10 0 cell cycle|cell division septin complex GTP binding breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1) 18 ACACTTCTAGTTTTTTTTTAA 0.318 7 295 --- --- --- --- NPHP1 4867 broad.mit.edu 37 2 110926097 110926098 + Frame_Shift_Ins INS - - T TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr2:110926097_110926098insT ENST00000316534.4 - 6 628_629 c.555_556insA c.(553-558)aactgafs p.N*185fs NPHP1_ENST00000417665.1_Frame_Shift_Ins_p.N*185fs|NPHP1_ENST00000393272.3_Frame_Shift_Ins_p.N*185fs|NPHP1_ENST00000355301.4_Frame_Shift_Ins_p.N*123fs|NPHP1_ENST00000445609.2_Frame_Shift_Ins_p.N*185fs O15259 NPHP1_HUMAN nephronophthisis 1 (juvenile) 185 SH3. actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium protein binding|structural molecule activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2) 24 CAACCATCAGGTTTTTTTTCAA 0.342 7 666 --- --- --- --- ACVR2A 92 broad.mit.edu 37 2 148657040 148657041 + Frame_Shift_Ins INS - - A TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr2:148657040_148657041insA ENST00000241416.7 + 3 913_914 c.277_278insA c.(277-279)aaafs p.K93fs ACVR2A_ENST00000404590.1_Frame_Shift_Ins_p.K93fs|AC009480.3_ENST00000402410.2_RNA|ACVR2A_ENST00000535787.1_5'UTR NM_001278579.1|NM_001278580.1|NM_001616.3 NP_001265508.1|NP_001265509.1|NP_001607.1 P27037 AVR2A_HUMAN activin A receptor, type IIA 93 activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8) 45 BRCA - Breast invasive adenocarcinoma(221;0.0969) TGATTGTGTAGAAAAAAAAGAC 0.302 7 730 --- --- --- --- PLA2R1 0 broad.mit.edu 37 2 160801441 160801442 + Frame_Shift_Ins INS - - T TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr2:160801441_160801442insT ENST00000283243.7 - 28 4325_4326 c.4119_4120insA c.(4117-4122)aagcttfs p.L1374fs PLA2R1_ENST00000460710.1_5'UTR NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa 1374 C-type lectin 8. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 CATATAAAGCCTTTTTTTTCTT 0.401 8 968 --- --- --- --- DNAH7 56171 broad.mit.edu 37 2 196788374 196788374 + Frame_Shift_Del DEL T T - rs140194798 TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr2:196788374delT ENST00000312428.6 - 23 3870 c.3770delA c.(3769-3771)atfs p.N1257fs NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1257 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 ATCGCTAATATTTTTTTTTAC 0.418 8 366 --- --- --- --- ALS2CR11 151254 broad.mit.edu 37 2 202352352 202352352 + Frame_Shift_Del DEL T T - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr2:202352352delT ENST00000439140.1 - 16 5490 c.5446delA c.(5446-5448)ttfs p.I1816fs ALS2CR11_ENST00000286195.3_Frame_Shift_Del_p.I619fs|ALS2CR11_ENST00000439802.1_3'UTR NM_001168221.1 NP_001161693.1 Q53TS8 AL2SA_HUMAN amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 619 NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3) 33 CCTCTTTTAATTTTTTTTGGC 0.323 9 634 --- --- --- --- ABI2 10152 broad.mit.edu 37 2 204267424 204267427 + Frame_Shift_Del DEL ATGA ATGA - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr2:204267424_204267427delATGA ENST00000295851.4 + 9 1455_1458 c.1159_1162delATGA c.(1159-1164)atfs p.MN387fs ABI2_ENST00000261017.5_Frame_Shift_Del_p.MN320fs|ABI2_ENST00000424558.1_Frame_Shift_Del_p.MN381fs|ABI2_ENST00000430418.1_Frame_Shift_Del_p.MN332fs|ABI2_ENST00000261018.7_Frame_Shift_Del_p.MN173fs|RAPH1_ENST00000457812.1_Intron|ABI2_ENST00000422511.2_Frame_Shift_Del_p.MN354fs|ABI2_ENST00000430574.1_3'UTR|ABI2_ENST00000261016.6_Frame_Shift_Del_p.MN275fs Q9NYB9 ABI2_HUMAN abl-interactor 2 387 Pro-rich. actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation cytoskeleton|cytosol|filopodium|lamellipodium cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1) 15 TCAGAATCAGATGAATGGAGGACC 0.407 77 490 --- --- --- --- UGT1A8 0 broad.mit.edu 37 2 234526711 234526711 + Frame_Shift_Del DEL T T - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr2:234526711delT ENST00000373450.4 + 1 421 c.358delT c.(358-360)ttfs p.F121fs NM_019076.4 NP_061949.3 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008) TTTTAACTTATTTTTTTCGCA 0.373 7 1087 --- --- --- --- QRICH1 54870 broad.mit.edu 37 3 49094314 49094316 + In_Frame_Del DEL TGC TGC - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 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 8 516 --- --- --- --- PARP3 10039 broad.mit.edu 37 3 51978150 51978152 + In_Frame_Del DEL AAC AAC - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr3:51978150_51978152delAAC ENST00000417220.2 + 4 717_719 c.229_231delAAC c.(229-231)del p.N80del PARP3_ENST00000398755.3_In_Frame_Del_p.N87del|PARP3_ENST00000431474.1_In_Frame_Del_p.N80del Q9Y6F1 PARP3_HUMAN poly (ADP-ribose) polymerase family, member 3 80 N -> K (in Ref. 2; AAD29855). DNA repair|protein ADP-ribosylation centriole|nucleus NAD+ ADP-ribosyltransferase activity|protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) CAACATCGAGAACAACAACAACA 0.596 9 1359 --- --- --- --- LINC00698 0 broad.mit.edu 37 3 63083094 63083096 + RNA DEL CTG CTG - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr3:63083094_63083096delCTG ENST00000468072.1 + 0 125 NR_027104.1 TCCGAGCCGTCTGCTGCTGCTGC 0.562 8 758 --- --- --- --- FOXP1 27086 broad.mit.edu 37 3 71247357 71247359 + In_Frame_Del DEL TGC TGC - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr3:71247357_71247359delTGC ENST00000318789.4 - 6 699_701 c.174_176delGCA c.(172-177)caa>ca p.QQ58del FOXP1_ENST00000318779.3_In_Frame_Del_p.QQ58del|FOXP1_ENST00000475937.1_In_Frame_Del_p.QQ58del|FOXP1_ENST00000493089.1_In_Frame_Del_p.QQ58del|FOXP1_ENST00000468577.1_In_Frame_Del_p.QQ58del|FOXP1_ENST00000498215.1_In_Frame_Del_p.QQ58del|FOXP1_ENST00000484350.1_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 8 628 --- --- --- --- RP11-325B23.2 0 broad.mit.edu 37 3 98031434 98031434 + RNA DEL A A - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr3:98031434delA ENST00000508616.1 + 0 149 OR5H8P_ENST00000394191.2_RNA TTACAATCTTAAAAAAAAAAG 0.333 8 197 --- --- --- --- MORC1 27136 broad.mit.edu 37 3 108682419 108682419 + Frame_Shift_Del DEL T T - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr3:108682419delT ENST00000232603.5 - 27 2723 c.2641delA c.(2641-2643)tafs p.I881fs MORC1_ENST00000483760.1_Frame_Shift_Del_p.I860fs NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 881 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 TTCCTCTTTATTTTTTTTTCA 0.284 10 392 --- --- --- --- KIAA2018 205717 broad.mit.edu 37 3 113380090 113380090 + Frame_Shift_Del DEL T T - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr3:113380090delT ENST00000316407.4 - 7 849 c.439delA c.(439-441)ttfs p.I148fs KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Frame_Shift_Del_p.I148fs NM_001009899.2 NP_001009899.2 Q68DE3 K2018_HUMAN KIAA2018 148 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 TAAACAATAATTTTTTTTTGA 0.373 11 657 --- --- --- --- GOLGB1 2804 broad.mit.edu 37 3 121417605 121417605 + Frame_Shift_Del DEL T T - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr3:121417605delT ENST00000393667.3 - 13 1875 c.1765delA c.(1765-1767)ggfs p.R589fs GOLGB1_ENST00000340645.5_Frame_Shift_Del_p.R584fs NM_001256486.1 NP_001243415.1 Q14789 GOGB1_HUMAN golgin B1 584 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding p.R584G(1) NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) TCCTCAGCCCTTTTTCCCTGG 0.363 8 770 --- --- --- --- DBR1 51163 broad.mit.edu 37 3 137880741 137880743 + In_Frame_Del DEL TCG TCG - rs2622736 byFrequency TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr3:137880741_137880743delTCG ENST00000260803.4 - 8 1776_1778 c.1623_1625delCGA c.(1621-1626)gat>ga p.DD541del DBR1_ENST00000505015.2_In_Frame_Del_p.DD307del NM_016216.3 NP_057300.2 Q9UK59 DBR1_HUMAN debranching RNA lariats 1 541 nucleus metal ion binding|RNA lariat debranching enzyme activity NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 15 TTAAGCTGCATCGTCATCATCAT 0.394 13 741 --- --- --- --- MED12L 116931 broad.mit.edu 37 3 151148114 151148116 + In_Frame_Del DEL CAG CAG - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr3:151148114_151148116delCAG ENST00000474524.1 + 42 6369_6371 c.6331_6333delCAG c.(6331-6333)del p.Q2115del MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 2115 Gln-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex p.Q2111E(1) NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GCAGCAGACCCAGCAGCAGCAGC 0.527 12 566 --- --- --- --- PHC3 80012 broad.mit.edu 37 3 169896635 169896637 + In_Frame_Del DEL TGG TGG - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr3:169896635_169896637delTGG ENST00000494943.1 - 2 136_138 c.68_70delCCA c.(67-72)atc>a p.TI23del PHC3_ENST00000495893.1_In_Frame_Del_p.TI35del|PHC3_ENST00000497658.1_In_Frame_Del_p.TI35del|PHC3_ENST00000474275.1_In_Frame_Del_p.TI23del|PHC3_ENST00000481639.1_In_Frame_Del_p.TI35del|PHC3_ENST00000467570.1_In_Frame_Del_p.TI35del Q8NDX5 PHC3_HUMAN polyhomeotic homolog 3 (Drosophila) 23 Poly-Thr. multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2) 26 all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) GAAgtggtgatggtggtggtggt 0.493 12 1570 --- --- --- --- SDHAP1 0 broad.mit.edu 37 3 195711343 195711344 + RNA INS - - T TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr3:195711343_195711344insT ENST00000427841.1 - 0 585 NR_003264.2 AAAGACTTCTCTGTGAGCTTTG 0.381 19 33 --- --- --- --- OTOP1 133060 broad.mit.edu 37 4 4204225 4204229 + Frame_Shift_Del DEL TTGAG TTGAG - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr4:4204225_4204229delTTGAG ENST00000296358.4 - 4 700_704 c.676_680delCTCAA c.(676-681)tfs p.LN226fs NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 226 biomineral tissue development extracellular space|integral to membrane p.L226fs*1(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CTTGTGCTCATTGAGTTGGTGCTTT 0.502 12 556 --- --- --- --- CLOCK 9575 broad.mit.edu 37 4 56304530 56304532 + In_Frame_Del DEL CTG CTG - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr4:56304530_56304532delCTG ENST00000309964.4 - 21 2528_2530 c.2278_2280delCAG c.(2278-2280)del p.Q760del CLOCK_ENST00000513440.1_In_Frame_Del_p.Q760del|CLOCK_ENST00000381322.1_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 7 365 --- --- --- --- PRDM8 56978 broad.mit.edu 37 4 81123250 81123252 + In_Frame_Del DEL CAG CAG - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr4:81123250_81123252delCAG ENST00000339711.4 + 10 1865_1867 c.634_636delCAG c.(634-636)del p.Q217del PRDM8_ENST00000504452.1_In_Frame_Del_p.Q217del|PRDM8_ENST00000415738.2_In_Frame_Del_p.Q217del NM_020226.3 NP_064611.3 Q9NQV8 PRDM8_HUMAN PR domain containing 8 217 Gly-rich.|Poly-Gln. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2) 10 tggcaaagaccagcagcagcagc 0.655 OREG0016246 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 286 --- --- --- --- HPSE 10855 broad.mit.edu 37 4 84216533 84216533 + Frame_Shift_Del DEL A A - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr4:84216533delA ENST00000405413.2 - 13 1732 c.1596delT c.(1594-1596)ttfs p.F532fs HPSE_ENST00000311412.5_Frame_Shift_Del_p.F532fs|HPSE_ENST00000513463.1_Frame_Shift_Del_p.F474fs|HPSE_ENST00000512196.1_Frame_Shift_Del_p.F458fs NM_006665.5 NP_006656.2 Q9Y251 HPSE_HUMAN heparanase 532 Required for transferring proheparanase to the Golgi apparatus, secretion and subsequent enzyme activity and for enhancement of PKB/AKT1 phosphorylation. carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process extracellular region|lysosomal membrane|nucleus beta-glucuronidase activity|cation binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 20 Hepatocellular(203;0.114) COAD - Colon adenocarcinoma(81;0.141) Heparin(DB01109) TTCTTATCACAAAAAAACTAT 0.383 7 581 --- --- --- --- OTUD4 54726 broad.mit.edu 37 4 146077123 146077125 + In_Frame_Del DEL CAG CAG - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr4:146077123_146077125delCAG ENST00000454497.2 - 8 595_597 c.458_460delCTG c.(457-462)gat>g p.AD153del OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 218 OTU. protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) CCATTCACATCAGCAGCAGCAGC 0.340 9 372 --- --- --- --- CDH10 1008 broad.mit.edu 37 5 24492973 24492973 + Frame_Shift_Del DEL A A - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr5:24492973delA ENST00000264463.4 - 10 2084 c.1577delT c.(1576-1578)tcfs p.F526fs CDH10_ENST00000502921.1_5'UTR NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 526 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) AGCTAAACTGAAAAAAAATTT 0.313 HNSCC(23;0.051) 11 1093 --- --- --- --- CHD1 1105 broad.mit.edu 37 5 98212178 98212178 + Frame_Shift_Del DEL T T - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr5:98212178delT ENST00000284049.3 - 23 3471 c.3322delA c.(3322-3324)ggfs p.R1108fs NM_001270.2 NP_001261.2 O14646 CHD1_HUMAN chromodomain helicase DNA binding protein 1 1108 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 49 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) TTCTTTGGCCTTTTCCCTTCT 0.418 8 1091 --- --- --- --- CSNK1G3 1456 broad.mit.edu 37 5 122881495 122881495 + Frame_Shift_Del DEL A A - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr5:122881495delA ENST00000395412.1 + 2 857 c.138delA c.(136-138)ggfs p.G46fs CSNK1G3_ENST00000521364.1_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000510842.2_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000512718.3_Intron|CSNK1G3_ENST00000511130.2_Intron|CSNK1G3_ENST00000361991.2_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000508708.1_3'UTR|CSNK1G3_ENST00000345990.4_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000395411.1_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000360683.2_Frame_Shift_Del_p.G46fs NM_001044723.1 NP_001038188.1 Q9Y6M4 KC1G3_HUMAN casein kinase 1, gamma 3 46 Protein kinase. Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1) 15 all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245) KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229) OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176) TTAGAGTTGGAAAAAAAATTG 0.363 9 677 --- --- --- --- CSNK1G3 1456 broad.mit.edu 37 5 122911485 122911487 + In_Frame_Del DEL CTT CTT - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr5:122911485_122911487delCTT ENST00000395412.1 + 6 1220_1222 c.501_503delCTT c.(499-504)aac>aa p.NF167del CSNK1G3_ENST00000521364.1_In_Frame_Del_p.NF167del|CSNK1G3_ENST00000510842.2_In_Frame_Del_p.NF167del|CSNK1G3_ENST00000512718.3_In_Frame_Del_p.NF92del|CSNK1G3_ENST00000511130.2_In_Frame_Del_p.NF54del|CSNK1G3_ENST00000361991.2_In_Frame_Del_p.NF167del|CSNK1G3_ENST00000345990.4_In_Frame_Del_p.NF167del|CSNK1G3_ENST00000395411.1_In_Frame_Del_p.NF167del|CSNK1G3_ENST00000360683.2_In_Frame_Del_p.NF167del NM_001044723.1 NP_001038188.1 Q9Y6M4 KC1G3_HUMAN casein kinase 1, gamma 3 167 Protein kinase. Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1) 15 all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245) KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229) OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176) AACCTGAGAACTTCTTAATAGGA 0.335 23 417 --- --- --- --- IK 3550 broad.mit.edu 37 5 140032593 140032594 + Frame_Shift_Del DEL GA GA - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr5:140032593_140032594delGA ENST00000417647.2 + 5 407_408 c.268_269delGA c.(268-270)gfs p.E90fs IK_ENST00000523672.1_3'UTR NM_006083.3 NP_006074.2 Q13123 RED_HUMAN IK cytokine, down-regulator of HLA II 90 cell-cell signaling|immune response extracellular space|nucleus|soluble fraction large_intestine(1) 1 all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACAAGAAATTGAGAGAGAGAGA 0.460 8 281 --- --- --- --- PPARGC1B 133522 broad.mit.edu 37 5 149216457 149216459 + In_Frame_Del DEL GGA GGA - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr5:149216457_149216459delGGA ENST00000309241.5 + 8 2471_2473 c.2439_2441delGGA c.(2437-2442)ggg>gg p.GE813del PPARGC1B_ENST00000394320.3_In_Frame_Del_p.GE813del|PPARGC1B_ENST00000403750.1_In_Frame_Del_p.GE749del|PPARGC1B_ENST00000360453.4_In_Frame_Del_p.GE774del NM_133263.3 NP_573570.3 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 beta 813 Glu-rich. estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) aggaagaaggggaggaggaggag 0.606 7 642 --- --- --- --- TIMD4 91937 broad.mit.edu 37 5 156378745 156378747 + In_Frame_Del DEL TTG TTG - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 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 9 1613 --- --- --- --- STK10 6793 broad.mit.edu 37 5 171517345 171517345 + Frame_Shift_Del DEL T T - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr5:171517345delT ENST00000176763.5 - 10 1919 c.1576delA c.(1576-1578)ccfs p.T526fs NM_005990.3 NP_005981.3 O94804 STK10_HUMAN serine/threonine kinase 10 526 ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094) Medulloblastoma(196;0.00868)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CGCTTGAGGGTTTTTTTGTAC 0.517 7 1384 --- --- --- --- EXOC2 55770 broad.mit.edu 37 6 637794 637794 + Frame_Shift_Del DEL G G - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr6:637794delG ENST00000230449.4 - 2 160 c.25delC c.(25-27)ttfs p.L9fs EXOC2_ENST00000448181.3_Intron NM_018303.4 NP_060773.3 Q96KP1 EXOC2_HUMAN exocyst complex component 2 9 IPT/TIG. exocytosis|protein transport p.Q6fs*28(1) breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2) 46 Ovarian(93;0.0733) Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897) OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14) CCGGTCACAAGGGGGGGTTGT 0.483 7 937 --- --- --- --- RP1-223B1.1 0 broad.mit.edu 37 6 3606705 3606706 + RNA INS - - ACACACACAT rs72508000 TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr6:3606705_3606706insACACACACAT ENST00000443445.1 - 0 500 cacacagacacacacacacaca 0.574 3 5 --- --- --- --- RIOK1 83732 broad.mit.edu 37 6 7393450 7393452 + In_Frame_Del DEL GAC GAC - rs2274212 byFrequency TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 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 8 463 --- --- --- --- SLC17A1 6568 broad.mit.edu 37 6 25830753 25830753 + Splice_Site DEL T T - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr6:25830753delT ENST00000244527.4 - 2 148 c.34_splice c.e2+1 p.K11_splice SLC17A1_ENST00000468082.1_Splice_Site_p.K11_splice|SLC17A1_ENST00000476801.1_Splice_Site_p.K11_splice|SLC17A1_ENST00000427328.1_Splice_Site_p.K11_splice NM_005074.3 NP_005065.2 Q14916 NPT1_HUMAN solute carrier family 17 (organic anion transporter), member 1 11 sodium ion transport|urate metabolic process integral to plasma membrane|membrane fraction sodium-dependent phosphate transmembrane transporter activity|symporter activity p.K11K(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 36 AAGTGCTACCTTTTTTGGGAG 0.403 8 828 --- --- --- --- HIST1H1B 3009 broad.mit.edu 37 6 27834859 27834859 + Frame_Shift_Del DEL T T - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr6:27834859delT ENST00000331442.3 - 1 500 c.449delA c.(448-450)agfs p.K150fs NM_005322.2 NP_005313.1 P16401 H15_HUMAN histone cluster 1, H1b 150 nucleosome assembly nucleosome|nucleus DNA binding p.K150R(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2) 24 CTTCACTGCCTTTTTCGCCCC 0.622 8 1748 --- --- --- --- CYP21A1P 0 broad.mit.edu 37 6 31975223 31975224 + RNA INS - - T TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr6:31975223_31975224insT ENST00000342991.6 + 0 1346_1347 NR_040090.1 Q5ST44 Q5ST44_HUMAN electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen CTGGGCCGTGGTTTTTTTTGCT 0.614 10 1043 --- --- --- --- UHRF1BP1 54887 broad.mit.edu 37 6 34804004 34804006 + In_Frame_Del DEL CAG CAG - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr6:34804004_34804006delCAG ENST00000192788.5 + 8 1083_1085 c.912_914delCAG c.(910-915)aac>aa p.NS304del UHRF1BP1_ENST00000452449.2_In_Frame_Del_p.NS304del NM_017754.3 NP_060224.3 Q6BDS2 URFB1_HUMAN UHRF1 binding protein 1 304 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54 GCAACAGCAACAGCAGCAGCAGC 0.552 11 1541 --- --- --- --- TDRD6 221400 broad.mit.edu 37 6 46660414 46660415 + Frame_Shift_Ins INS - - A rs145334816 TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr6:46660414_46660415insA ENST00000544460.1 + 1 4803_4804 c.4549_4550insA c.(4549-4551)aaafs p.K1517fs TDRD6_ENST00000316081.6_Frame_Shift_Ins_p.K1517fs NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 1517 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) GTATAATCCAGAAAAAAAAATG 0.351 17 522 --- --- --- --- FYN 2534 broad.mit.edu 37 6 111983042 111983042 + Frame_Shift_Del DEL T T - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr6:111983042delT ENST00000354650.3 - 14 2120 c.1514delA c.(1513-1515)agfs p.K505fs FYN_ENST00000229471.4_Frame_Shift_Del_p.K450fs|FYN_ENST00000538466.1_Frame_Shift_Del_p.K502fs|FYN_ENST00000368682.3_Frame_Shift_Del_p.K502fs|FYN_ENST00000229470.5_Frame_Shift_Del_p.K453fs|FYN_ENST00000368678.4_Frame_Shift_Del_p.K502fs|FYN_ENST00000356013.2_Frame_Shift_Del_p.K450fs|FYN_ENST00000368667.2_Frame_Shift_Del_p.K505fs NM_002037.5 NP_002028.1 P06241 FYN_HUMAN FYN oncogene related to SRC, FGR, YES 505 Protein kinase. axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|endosome|plasma membrane ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 30 all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211) all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102) Dasatinib(DB01254) TTCAGGGTCCTTTTTCCAGCA 0.562 9 1240 --- --- --- --- NOX3 50508 broad.mit.edu 37 6 155743925 155743926 + Frame_Shift_Del DEL CA CA - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr6:155743925_155743926delCA ENST00000159060.2 - 10 1312_1313 c.1210_1211delTG c.(1210-1212)cfs p.C404fs NM_015718.2 NP_056533.1 Q9HBY0 NOX3_HUMAN NADPH oxidase 3 404 electron carrier activity|flavin adenine dinucleotide binding|iron ion binding cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 45 Breast(66;0.0183) OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815) CGCGGCAACGCACACACACACT 0.530 8 884 --- --- --- --- GTF2IRD2P1 0 broad.mit.edu 37 7 72683455 72683456 + RNA INS - - T TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr7:72683455_72683456insT ENST00000425256.1 - 0 120 NR_002164.1 CGTTCTACCAgtttttttttgt 0.441 10 374 --- --- --- --- STAG3L2 0 broad.mit.edu 37 7 74300804 74300804 + RNA DEL A A - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr7:74300804delA ENST00000423186.1 - 0 499 P0CL84 ST3L2_HUMAN nucleus binding breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1) 5 CTTCATACTTAAAAAAAAAAA 0.458 9 60 --- --- --- --- GIGYF1 64599 broad.mit.edu 37 7 100284335 100284337 + In_Frame_Del DEL CCT CCT - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 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 9 621 --- --- --- --- SRRT 51593 broad.mit.edu 37 7 100479332 100479332 + Frame_Shift_Del DEL G G - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr7:100479332delG ENST00000388793.4 + 4 524 c.304delG c.(304-306)ggfs p.G106fs SRRT_ENST00000432932.1_Frame_Shift_Del_p.G106fs|SRRT_ENST00000347433.4_Frame_Shift_Del_p.G106fs|SRRT_ENST00000457580.2_Frame_Shift_Del_p.G106fs NM_001128852.1|NM_015908.5 NP_001122324.1|NP_056992.4 Q9BXP5 SRRT_HUMAN serrate RNA effector molecule homolog (Arabidopsis) 106 G -> GG (in Ref. 3; CAB46374). cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding p.G104fs*45(1) breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 GCCCTATGCTGGGGGGGGTGG 0.607 15 521 --- --- --- --- SRRT 51593 broad.mit.edu 37 7 100482040 100482042 + In_Frame_Del DEL AGG AGG - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr7:100482040_100482042delAGG ENST00000388793.4 + 7 1029_1031 c.809_811delAGG c.(808-813)cag>c p.QE270del SRRT_ENST00000432932.1_In_Frame_Del_p.QE270del|SRRT_ENST00000347433.4_In_Frame_Del_p.QE270del|SRRT_ENST00000457580.2_In_Frame_Del_p.QE270del NM_001128852.1|NM_015908.5 NP_001122324.1|NP_056992.4 Q9BXP5 SRRT_HUMAN serrate RNA effector molecule homolog (Arabidopsis) 270 Glu-rich. cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 ATCCTGGAGCAGGAGGAGGAGGA 0.596 13 312 --- --- --- --- DPY19L2P2 0 broad.mit.edu 37 7 102878163 102878164 + RNA INS - - TAAAATAAAA rs59775517 TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr7:102878163_102878164insTAAAATAAAA ENST00000312132.4 - 0 2866 accccagaacttaaaataaaaa 0.351 12 28 --- --- --- --- FOXP2 93986 broad.mit.edu 37 7 114270016 114270018 + In_Frame_Del DEL CAG CAG - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr7:114270016_114270018delCAG ENST00000393500.3 + 11 1148_1150 c.328_330delCAG c.(328-330)del p.Q116del FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000393494.2_In_Frame_Del_p.Q191del|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del O15409 FOXP2_HUMAN forkhead box P2 191 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning 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 p.Q210Q(2) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 gcagcagcaacagcagcagcagc 0.507 7 438 --- --- --- --- WASL 8976 broad.mit.edu 37 7 123332873 123332875 + In_Frame_Del DEL GGA GGA - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr7:123332873_123332875delGGA ENST00000223023.4 - 9 1205_1207 c.873_875delTCC c.(871-876)ccc>cc p.PP293del NM_003941.2 NP_003932.3 O00401 WASL_HUMAN Wiskott-Aldrich syndrome-like 293 Pro-rich. actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|cytosol|nucleolus|plasma membrane actin binding|small GTPase regulator activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 gtgtggagggggaggaggaggag 0.567 7 551 --- --- --- --- OR9A4 130075 broad.mit.edu 37 7 141619203 141619203 + Frame_Shift_Del DEL T T - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr7:141619203delT ENST00000548136.1 + 1 587 c.528delT c.(526-528)aafs p.N176fs MGAM_ENST00000497554.1_Intron NM_001001656.1 NP_001001656.1 Q8NGU2 OR9A4_HUMAN olfactory receptor, family 9, subfamily A, member 4 176 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2) 22 Melanoma(164;0.0171) TGGTGAACAATTTTTTTTGTG 0.383 12 1100 --- --- --- --- TRBV7-6 0 broad.mit.edu 37 7 142139683 142139684 + RNA INS - - A TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr7:142139683_142139684insA ENST00000390374.3 - 0 94 cctacacacaGAAAAAAAAATG 0.490 9 434 --- --- --- --- TRBV7-4 0 broad.mit.edu 37 7 142176678 142176679 + RNA DEL CA CA - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr7:142176678_142176679delCA ENST00000390369.2 - 0 49 GTAGTCATCGCACACACACACA 0.460 18 394 --- --- --- --- PRSS3P2 0 broad.mit.edu 37 7 142481923 142481925 + RNA DEL CAA CAA - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr7:142481923_142481925delCAA ENST00000603901.1 + 0 591 NR_001296.3 GTGATTAGACCAACCCTTCCCAT 0.537 14 405 --- --- --- --- PRSS3P2 0 broad.mit.edu 37 7 142482025 142482025 + RNA DEL A A - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr7:142482025delA ENST00000603901.1 + 0 591 NR_001296.3 TGCAGTGCCCACATGGAGAAG 0.572 12 98 --- --- --- --- FGFR1 2260 broad.mit.edu 37 8 38285914 38285916 + In_Frame_Del DEL TCA TCA - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr8:38285914_38285916delTCA ENST00000341462.5 - 4 1346_1348 c.405_407delTGA c.(403-408)gac>ga p.DD135del FGFR1_ENST00000397108.4_In_Frame_Del_p.DD132del|FGFR1_ENST00000397113.2_In_Frame_Del_p.DD132del|FGFR1_ENST00000397091.5_In_Frame_Del_p.DD132del|FGFR1_ENST00000425967.3_In_Frame_Del_p.DD165del|FGFR1_ENST00000356207.5_In_Frame_Del_p.DD43del|FGFR1_ENST00000397103.1_In_Frame_Del_p.DD43del|FGFR1_ENST00000447712.2_In_Frame_Del_p.DD132del|FGFR1_ENST00000532791.1_In_Frame_Del_p.DD132del|FGFR1_ENST00000326324.6_In_Frame_Del_p.DD43del|FGFR1_ENST00000335922.5_In_Frame_Del_p.DD124del P11362 FGFR1_HUMAN fibroblast growth factor receptor 1 132 axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development extracellular region|integral to plasma membrane|membrane fraction ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity p.D133N(3)|p.D44N(1) FGFR1/ZNF703(2) breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 50 all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442) Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065) Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24) Palifermin(DB00039) TGAAGAGGAGtcatcatcatcat 0.498 1 T """BCR, FOP, ZNF198, CEP1""" """MPD, NHL""" """Pfeiffer syndrome, Kallman syndrome""" 9 202 --- --- --- --- TOX 9760 broad.mit.edu 37 8 59750796 59750798 + In_Frame_Del DEL CTT CTT - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr8:59750796_59750798delCTT ENST00000361421.1 - 5 986_988 c.766_768delAAG c.(766-768)del p.K256del NM_014729.2 NP_055544.1 O94900 TOX_HUMAN thymocyte selection-associated high mobility group box 256 nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1) 33 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) CATTGGGATCCTTCTTCTTCTTC 0.453 11 810 --- --- --- --- BHLHE22 27319 broad.mit.edu 37 8 65493617 65493618 + In_Frame_Ins INS - - GGC TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr8:65493617_65493618insGGC ENST00000321870.1 + 1 804_805 c.270_271insGGC c.(268-273)aggcgg>agGGCgcgg p.90_91RR>RAR RP11-21C4.1_ENST00000517909.1_RNA NM_152414.4 NP_689627.1 Q8NFJ8 BHE22_HUMAN basic helix-loop-helix family, member e22 90 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1) 5 gcgcgggaagtggcggcggcgg 0.782 7 27 --- --- --- --- PREX2 80243 broad.mit.edu 37 8 68992720 68992721 + Frame_Shift_Ins INS - - T TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr8:68992720_68992721insT ENST00000288368.4 + 16 1962_1963 c.1685_1686insT c.(1684-1686)cttfs p.L562fs PREX2_ENST00000529398.1_3'UTR NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 562 DEP 2. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 CTACTTTTCCGTTTTTTTTCGG 0.332 9 337 --- --- --- --- TP53INP1 0 broad.mit.edu 37 8 95952409 95952411 + In_Frame_Del DEL TCT TCT - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 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 11 314 --- --- --- --- RGS22 26166 broad.mit.edu 37 8 100990177 100990178 + Frame_Shift_Ins INS - - T rs7841915 by1000genomes TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr8:100990177_100990178insT ENST00000360863.6 - 23 3680_3681 c.3486_3487insA c.(3484-3489)aatggcfs p.NG1162fs RGS22_ENST00000523287.1_Frame_Shift_Ins_p.NG981fs|RGS22_ENST00000523437.1_Frame_Shift_Ins_p.NG1150fs NM_015668.3 NP_056483.3 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 1162 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) AGGACTGCCAATTTTTTTTTCT 0.312 9 357 --- --- --- --- UBR5 51366 broad.mit.edu 37 8 103289348 103289349 + Frame_Shift_Ins INS - - T TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr8:103289348_103289349insT ENST00000520539.1 - 45 6966_6967 c.6360_6361insA c.(6358-6363)aaaaggfs p.R2121fs UBR5_ENST00000220959.4_Frame_Shift_Ins_p.R2121fs|UBR5_ENST00000521922.1_Frame_Shift_Ins_p.R2115fs NM_015902.5 NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 2121 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding p.E2121fs*28(2) NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) TCTTCCCCTTCTTTTTTTTGCC 0.381 10 706 --- --- --- --- TG 7038 broad.mit.edu 37 8 133995617 133995617 + Frame_Shift_Del DEL T T - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr8:133995617delT ENST00000220616.4 + 35 6262 c.6222delT c.(6220-6222)agfs p.S2074fs TG_ENST00000542445.1_Frame_Shift_Del_p.S444fs|TG_ENST00000522523.1_3'UTR|TG_ENST00000377869.1_Frame_Shift_Del_p.S2017fs|TG_ENST00000519543.1_Intron NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 2074 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) ATGCTCCCAGTTTTTGCCCTT 0.398 9 1702 --- --- --- --- TONSL 4796 broad.mit.edu 37 8 145661587 145661589 + In_Frame_Del DEL GCT GCT - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr8:145661587_145661589delGCT ENST00000409379.3 - 17 2256_2258 c.2227_2229delAGC c.(2227-2229)del p.S744del AC084125.4_ENST00000544423.1_RNA NM_013432.4 NP_038460.4 Q96HA7 TONSL_HUMAN tonsoku-like, DNA repair protein 744 cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing cytoplasm|nuclear replication fork histone binding|transcription corepressor activity biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1) 26 CGCCTTCTGAGCTGCTGCTGCTG 0.719 8 161 --- --- --- --- MLLT3 4300 broad.mit.edu 37 9 20414278 20414280 + In_Frame_Del DEL CTG CTG - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr9:20414278_20414280delCTG ENST00000380338.4 - 5 850_852 c.564_566delCAG c.(562-567)agt>ag p.SS188del MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_In_Frame_Del_p.SS185del NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 188 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S188S(1) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) ACTGGTActactgctgctgctgc 0.507 T MLL ALL 23 799 --- --- --- --- PTPLAD2 401494 broad.mit.edu 37 9 21007045 21007046 + Frame_Shift_Ins INS - - T TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr9:21007045_21007046insT ENST00000495827.1 - 7 734_735 c.689_690insA c.(688-690)aaafs p.K230fs PTPLAD2_ENST00000513293.2_Frame_Shift_Ins_p.K230fs NM_001010915.3 NP_001010915.2 Q5VWC8 HACD4_HUMAN protein tyrosine phosphatase-like A domain containing 2 230 Poly-Lys. fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane lyase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1) 10 Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10) TTCACATCTTCTTTTTTTTAAT 0.371 7 461 --- --- --- --- TTF1 7270 broad.mit.edu 37 9 135277201 135277202 + Frame_Shift_Ins INS - - T TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr9:135277201_135277202insT ENST00000334270.2 - 2 1046_1047 c.1007_1008insA c.(1006-1008)aaafs p.K336fs NM_001205296.1|NM_007344.3 NP_001192225.1|NP_031370.2 Q15361 TTF1_HUMAN transcription termination factor, RNA polymerase I 336 Poly-Lys. negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription nucleolus|nucleoplasm DNA binding endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05) TGGACTTTTTCTTTTTTTTCTT 0.510 7 1037 --- --- --- --- SNAPC4 6621 broad.mit.edu 37 9 139277995 139277997 + In_Frame_Del DEL GCT GCT - rs34222232 TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr9:139277995_139277997delGCT ENST00000298532.2 - 15 1992_1994 c.1624_1626delAGC c.(1624-1626)del p.S542del NM_003086.2 NP_003077.2 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, polypeptide 4, 190kDa 542 snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity p.S542delS(2) biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 33 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) CGTCCTCCTCgctgctgctgctg 0.690 7 102 --- --- --- --- ZMIZ1 57178 broad.mit.edu 37 10 81053356 81053356 + Frame_Shift_Del DEL C C - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr10:81053356delC ENST00000334512.5 + 12 1748 c.1176delC c.(1174-1176)ggfs p.G392fs ZMIZ1_ENST00000478357.1_3'UTR NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 392 Pro-rich. 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) CCTACCCGGGCCCCCGGCCCC 0.667 7 907 --- --- --- --- STAMBPL1 57559 broad.mit.edu 37 10 90682146 90682146 + Frame_Shift_Del DEL A A - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr10:90682146delA ENST00000371927.3 + 10 2165 c.1207delA c.(1207-1209)aafs p.K405fs STAMBPL1_ENST00000371922.1_Frame_Shift_Del_p.K239fs|STAMBPL1_ENST00000371924.1_Frame_Shift_Del_p.K405fs|STAMBPL1_ENST00000371926.3_Frame_Shift_Del_p.K405fs Q96FJ0 STALP_HUMAN STAM binding protein-like 1 405 metal ion binding|metallopeptidase activity|protein binding breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1) 11 Colorectal(252;0.0381) Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05) TTCTGCTTGTAAAAAAAAGGG 0.423 8 388 --- --- --- --- TM9SF3 56889 broad.mit.edu 37 10 98336475 98336475 + Frame_Shift_Del DEL T T - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr10:98336475delT ENST00000371142.4 - 2 430 c.214delA c.(214-216)gtfs p.S72fs NM_020123.3 NP_064508.3 Q9HD45 TM9S3_HUMAN transmembrane 9 superfamily member 3 72 integral to membrane binding breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1) 15 Colorectal(252;0.158) Epithelial(162;1.84e-09)|all cancers(201;2.84e-08) TGACTGATACTTTTTTTTGAC 0.363 9 861 --- --- --- --- LZTS2 84445 broad.mit.edu 37 10 102763415 102763417 + In_Frame_Del DEL CCT CCT - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr10:102763415_102763417delCCT ENST00000370220.1 + 2 3623_3625 c.560_562delCCT c.(559-564)gcc>g p.AS187del LZTS2_ENST00000370223.3_In_Frame_Del_p.AS187del Q9BRK4 LZTS2_HUMAN leucine zipper, putative tumor suppressor 2 187 Required for centrosomal localization (By similarity). cell division|mitosis|Wnt receptor signaling pathway membrane|microtubule|microtubule organizing center breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 Epithelial(162;7.3e-09)|all cancers(201;3.72e-07) GGGGGCCCTGcctcctcctcctc 0.650 8 1290 --- --- --- --- AFAP1L2 84632 broad.mit.edu 37 10 116062107 116062107 + Frame_Shift_Del DEL T T - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr10:116062107delT ENST00000369271.3 - 12 1721 c.1421delA c.(1420-1422)acfs p.N474fs AFAP1L2_ENST00000545353.1_Frame_Shift_Del_p.N527fs|AFAP1L2_ENST00000304129.4_Frame_Shift_Del_p.N474fs NM_001001936.1|NM_032550.2 NP_001001936.1|NP_115939.1 Q8N4X5 AF1L2_HUMAN actin filament associated protein 1-like 2 474 inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle cytoplasm protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2) 21 Colorectal(252;0.175)|Breast(234;0.231) Epithelial(162;0.0219)|all cancers(201;0.0561) CAAGAGAGAGTTTTTGGCCGC 0.547 7 1158 --- --- --- --- MKI67 4288 broad.mit.edu 37 10 129913974 129913974 + Frame_Shift_Del DEL T T - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr10:129913974delT ENST00000368654.3 - 7 1073 c.698delA c.(697-699)atfs p.N233fs MKI67_ENST00000368653.3_Intron NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 233 cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) GGGAGATTCATTTTTTTTGCT 0.343 9 409 --- --- --- --- KRTAP5-5 439915 broad.mit.edu 37 11 1651116 1651127 + In_Frame_Del DEL GGCCGTGGCTCC GGCCGTGGCTCC - rs66665994 by1000genomes TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr11:1651116_1651127delGGCCGTGGCTCC ENST00000399676.2 + 1 84_95 c.46_57delGGCCGTGGCTCC c.(46-57)del p.GRGS16del NM_001001480.2 NP_001001480.2 Q701N2 KRA55_HUMAN keratin associated protein 5-5 16 keratin filament p.R17C(2)|p.R17L(2) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1) 33 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) cggctgtggaggccgtggctccggctgtgggg 0.693 10 802 --- --- --- --- UBQLN3 50613 broad.mit.edu 37 11 5529918 5529920 + In_Frame_Del DEL TGG TGG - rs2234451 byFrequency TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr11:5529918_5529920delTGG ENST00000311659.4 - 2 1016_1018 c.869_871delCCA c.(868-873)agc>a p.TS290del HBG2_ENST00000380259.2_Intron NM_017481.2 NP_059509.1 Q9H347 UBQL3_HUMAN ubiquilin 3 290 T -> S (in dbSNP:rs2234451). NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAAGGTTGGCTGGTGGTGGTGGT 0.537 16 623 --- --- --- --- KCNA4 3739 broad.mit.edu 37 11 30034029 30034031 + In_Frame_Del DEL TGG TGG - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr11:30034029_30034031delTGG ENST00000328224.6 - 2 1428_1430 c.195_197delCCA c.(193-198)cag>ca p.HQ65del NM_002233.3 NP_002224.1 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 4 65 Poly-His. voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 CCCGCGTGACTGGTGGTGGTGGT 0.660 9 603 --- --- --- --- CKAP5 9793 broad.mit.edu 37 11 46829683 46829683 + Frame_Shift_Del DEL T T - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr11:46829683delT ENST00000529230.1 - 8 922 c.876delA c.(874-876)aafs p.K292fs CKAP5_ENST00000354558.3_Frame_Shift_Del_p.K292fs|CKAP5_ENST00000415402.1_Frame_Shift_Del_p.K292fs|CKAP5_ENST00000312055.5_Frame_Shift_Del_p.K292fs Q14008 CKAP5_HUMAN cytoskeleton associated protein 5 292 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 43 TCTCTTGCCATTTTTTTGCCT 0.363 10 1508 --- --- --- --- OR5A1 219982 broad.mit.edu 37 11 59210950 59210951 + Frame_Shift_Ins INS - - T TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr11:59210950_59210951insT ENST00000302030.2 + 1 334_335 c.309_310insT c.(307-312)cattttfs p.HF103fs NM_001004728.1 NP_001004728.1 Q8NGJ0 OR5A1_HUMAN olfactory receptor, family 5, subfamily A, member 1 103 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 28 GTGCTGCTCAGTTTTTTTTCTT 0.510 11 1196 --- --- --- --- FADS2 9415 broad.mit.edu 37 11 61607885 61607887 + In_Frame_Del DEL TCC TCC - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr11:61607885_61607887delTCC ENST00000278840.4 + 3 1028_1030 c.398_400delTCC c.(397-402)ttc>t p.FL133del FADS2_ENST00000257261.6_In_Frame_Del_p.FL111del|FADS2_ENST00000522056.1_In_Frame_Del_p.FL102del|FADS2_ENST00000521849.1_In_Frame_Del_p.FL133del NM_004265.2 NP_004256.1 O95864 FADS2_HUMAN fatty acid desaturase 2 133 electron transport chain|transport|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction heme binding breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 20 Alpha-Linolenic Acid(DB00132) CACGTGTTCTTCCTCCTCCTCCT 0.537 7 1051 --- --- --- --- RP11-783K16.14 0 broad.mit.edu 37 11 63997567 63997567 + RNA DEL A A - rs11364788 TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr11:63997567delA ENST00000534988.1 - 0 99 GTGACTTGGGAAAAAAAAAAA 0.498 17 93 --- --- --- --- FAU 2197 broad.mit.edu 37 11 64888248 64888250 + In_Frame_Del DEL TCT TCT - rs1065065 TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr11:64888248_64888250delTCT ENST00000529639.1 - 5 696_698 c.305_307delAGA c.(304-309)aca>a p.KT102del FAU_ENST00000531743.1_In_Frame_Del_p.KT102del|FAU_ENST00000525297.1_In_Frame_Del_p.KT67del|FAU_ENST00000529259.1_3'UTR|FAU_ENST00000527548.1_In_Frame_Del_p.KT102del|FAU_ENST00000279259.3_In_Frame_Del_p.ED83del NM_001997.4 NP_001988.1 P35544 UBIM_HUMAN Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed 0 NS(3)|kidney(1)|large_intestine(2) 6 GCCCGACCTGTCTTCTTCTTCTT 0.542 11 759 --- --- --- --- PAK1 5058 broad.mit.edu 37 11 77069990 77069992 + In_Frame_Del DEL CAT CAT - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr11:77069990_77069992delCAT ENST00000356341.3 - 6 1079_1081 c.548_550delATG c.(547-552)gct>g p.DA183del PAK1_ENST00000528203.1_In_Frame_Del_p.DA85del|PAK1_ENST00000278568.4_In_Frame_Del_p.DA183del|PAK1_ENST00000530617.1_In_Frame_Del_p.DA183del|PAK1_ENST00000525542.1_5'UTR NM_002576.4 NP_002567.3 Q13153 PAK1_HUMAN p21 protein (Cdc42/Rac)-activated kinase 1 183 Interaction with CRIPAK. apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway cytosol|focal adhesion|Golgi apparatus ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1) 29 all_cancers(14;1.75e-18) GGTGGGGTAGcatcatcatcatc 0.478 17 809 --- --- --- --- FOLH1B 219595 broad.mit.edu 37 11 89407164 89407165 + RNA INS - - T rs72449667 TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr11:89407164_89407165insT ENST00000532352.1 + 0 1114 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 CCATCAATGACTTTTTTTTTTT 0.302 40 134 --- --- --- --- KDM4D 55693 broad.mit.edu 37 11 94730806 94730807 + Frame_Shift_Ins INS - - A rs142280183 by1000genomes TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr11:94730806_94730807insA ENST00000335080.5 + 3 1102_1103 c.270_271insA c.(268-273)caaaaafs p.QK90fs KDM4D_ENST00000536741.1_Frame_Shift_Ins_p.QK90fs NM_018039.2 NP_060509.2 Q6B0I6 KDM4D_HUMAN lysine (K)-specific demethylase 4D 90 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 CTCAATACCATAAAAAAAAGAA 0.455 7 694 --- --- --- --- MMP12 4321 broad.mit.edu 37 11 102738793 102738794 + RNA INS - - T rs35342965 by1000genomes TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr11:102738793_102738794insT ENST00000532855.1 - 0 727_728 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) TGAGGAACAAGTGGTGCCTAAG 0.416 12 59 --- --- --- --- KDM5A 5927 broad.mit.edu 37 12 416952 416953 + Frame_Shift_Ins INS - - T TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr12:416952_416953insT ENST00000399788.2 - 23 3959_3960 c.3597_3598insA c.(3595-3600)aagatcfs p.I1200fs KDM5A_ENST00000382815.4_Frame_Shift_Ins_p.I1200fs NM_001042603.1 NP_001036068.1 P29375 KDM5A_HUMAN lysine (K)-specific demethylase 5A 1200 chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2) 77 CAGCTGGATCCTTTTTTTTGGG 0.475 T NUP98 AML 11 690 --- --- --- --- CHD4 1108 broad.mit.edu 37 12 6711145 6711147 + In_Frame_Del DEL TCC TCC - rs71584865 byFrequency TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr12:6711145_6711147delTCC ENST00000309577.6 - 4 580_582 c.417_419delGGA c.(415-420)gat>ga p.ED139del CHD4_ENST00000544040.1_In_Frame_Del_p.ED132del|CHD4_ENST00000544484.1_In_Frame_Del_p.ED136del|CHD4_ENST00000357008.2_In_Frame_Del_p.ED139del Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 139 Poly-Asp. E -> D (in dbSNP:rs1639122). 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|zinc ion binding central_nervous_system(2) 2 ATCATCATCAtcctcctcctcct 0.453 21 425 --- --- --- --- CHD4 1108 broad.mit.edu 37 12 6711207 6711209 + In_Frame_Del DEL CTT CTT - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr12:6711207_6711209delCTT ENST00000309577.6 - 4 518_520 c.355_357delAAG c.(355-357)del p.K119del CHD4_ENST00000544040.1_In_Frame_Del_p.K112del|CHD4_ENST00000544484.1_In_Frame_Del_p.K116del|CHD4_ENST00000357008.2_In_Frame_Del_p.K119del Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 119 Poly-Lys. 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|zinc ion binding p.K119delK(3) central_nervous_system(2) 2 TAGGTCCAAGCTTCTTCTTCTTC 0.537 9 351 --- --- --- --- FOXJ2 55810 broad.mit.edu 37 12 8200558 8200560 + In_Frame_Del DEL CAG CAG - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr12:8200558_8200560delCAG ENST00000162391.3 + 7 2043_2045 c.898_900delCAG c.(898-900)del p.Q306del FOXJ2_ENST00000428177.2_In_Frame_Del_p.Q306del NM_018416.2 NP_060886.1 Q9P0K8 FOXJ2_HUMAN forkhead box J2 306 Poly-Gln. embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development nucleolus|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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 factor binding autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 16 Kidney(36;0.0944) gccacctcaacagcagcagcagc 0.640 11 343 --- --- --- --- OR10A7 121364 broad.mit.edu 37 12 55615114 55615116 + In_Frame_Del DEL CTT CTT - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 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 12 1423 --- --- --- --- OR6C75 390323 broad.mit.edu 37 12 55759486 55759486 + Frame_Shift_Del DEL T T - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr12:55759486delT ENST00000343399.3 + 1 592 c.592delT c.(592-594)ttfs p.F199fs NM_001005497.1 NP_001005497.1 A6NL08 O6C75_HUMAN olfactory receptor, family 6, subfamily C, member 75 199 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L200fs*1(1) endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2) 25 ACTCATGGCATTTTTTTTAGC 0.393 8 778 --- --- --- --- SLC39A5 283375 broad.mit.edu 37 12 56628997 56628999 + In_Frame_Del DEL CTG CTG - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 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 11 1541 --- --- --- --- LRP1 4035 broad.mit.edu 37 12 57605740 57605742 + In_Frame_Del DEL TGC TGC - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr12:57605740_57605742delTGC ENST00000243077.3 + 87 13755_13757 c.13289_13291delTGC c.(13288-13293)ttg>t p.LL4432del NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 4432 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CCTCTGCTGTTGCTGCTGCTGCT 0.557 8 629 --- --- --- --- TMEM19 55266 broad.mit.edu 37 12 72094757 72094757 + Frame_Shift_Del DEL T T - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr12:72094757delT ENST00000266673.5 + 6 1587 c.993delT c.(991-993)ggfs p.G331fs NM_018279.3 NP_060749.2 Q96HH6 TMM19_HUMAN transmembrane protein 19 331 integral to membrane large_intestine(1)|lung(8) 9 Breast(359;0.0889) GBM - Glioblastoma multiforme(134;0.044) CTGCTTGGGGTTTTTGGCCCA 0.433 11 1334 --- --- --- --- RP1-74B13.2 0 broad.mit.edu 37 12 111279813 111279816 + RNA DEL TTTG TTTG - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr12:111279813_111279816delTTTG ENST00000551161.1 + 0 216 GAAtttgttttttgtttgtttgtt 0.475 16 27 --- --- --- --- CLIP1 6249 broad.mit.edu 37 12 122812690 122812691 + Frame_Shift_Ins INS - - T TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr12:122812690_122812691insT ENST00000358808.2 - 16 3173_3174 c.3019_3020insA c.(3019-3021)ccafs p.P1007fs CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs|CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs NM_001247997.1|NM_002956.2 NP_001234926.1|NP_002947.1 P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 1018 mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) CTGGTTGTGGCTTGTTTCCATT 0.505 12 1415 --- --- --- --- DDX55 57696 broad.mit.edu 37 12 124103201 124103202 + Translation_Start_Site DEL TG TG - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr12:124103201_124103202delTG ENST00000421670.3 + 0 639_640 DDX55_ENST00000238146.4_Intron|DDX55_ENST00000541259.1_Intron|DDX55_ENST00000538744.1_Intron Q8NHQ9 DDX55_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 ATP binding|ATP-dependent helicase activity|RNA binding autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772) GAATGTGGTATGTGTGTGTGTG 0.520 OREG0022230 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 279 --- --- --- --- RNF17 56163 broad.mit.edu 37 13 25362211 25362211 + Frame_Shift_Del DEL A A - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr13:25362211delA ENST00000255324.5 + 7 749 c.697delA c.(697-699)aafs p.K234fs RNF17_ENST00000255325.5_Frame_Shift_Del_p.K235fs|RNF17_ENST00000381921.1_Frame_Shift_Del_p.K234fs|RNF17_ENST00000255326.4_3'UTR NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 234 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding p.N235fs*3(2) NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) CATTGAAGAGAAAAAAAATAA 0.303 7 380 --- --- --- --- RNF6 6049 broad.mit.edu 37 13 26788241 26788241 + Frame_Shift_Del DEL A A - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr13:26788241delA ENST00000381588.4 - 5 2530 c.1778delT c.(1777-1779)tafs p.L594fs RNF6_ENST00000346166.3_Frame_Shift_Del_p.L594fs|RNF6_ENST00000399762.2_Frame_Shift_Del_p.L238fs|RNF6_ENST00000468480.1_Intron|RNF6_ENST00000381570.3_Frame_Shift_Del_p.L594fs NM_005977.3 NP_005968.1 Q9Y252 RNF6_HUMAN ring finger protein (C3H2C3 type) 6 594 negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process axon|cytoplasm|PML body androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2) 23 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245) TTCATTTAGTAAAAAAAAGTG 0.403 7 889 --- --- --- --- RP11-248G5.8 0 broad.mit.edu 37 13 52857402 52857402 + RNA DEL A A - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr13:52857402delA ENST00000451298.1 - 0 303 RP11-64P12.8_ENST00000606031.1_RNA ACTTAACGTCAAAAAAAATGT 0.289 7 60 --- --- --- --- DIAPH3 81624 broad.mit.edu 37 13 60582733 60582734 + Frame_Shift_Ins INS - - T TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr13:60582733_60582734insT ENST00000400324.4 - 9 1178_1179 c.958_959insA c.(958-960)tgafs p.*320fs DIAPH3_ENST00000400320.1_Frame_Shift_Ins_p.*274fs|DIAPH3_ENST00000400330.1_Frame_Shift_Ins_p.*320fs|DIAPH3_ENST00000377908.2_Frame_Shift_Ins_p.*309fs|DIAPH3_ENST00000267215.4_Frame_Shift_Ins_p.*320fs|DIAPH3_ENST00000400319.1_Frame_Shift_Ins_p.*250fs|DIAPH3_ENST00000465066.1_5'UTR NM_001042517.1|NM_001258366.1 NP_001035982.1|NP_001245295.1 Q9NSV4 DIAP3_HUMAN diaphanous-related formin 3 320 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) AAATCTGTCAATTTTTTTTTCT 0.322 17 835 --- --- --- --- RBM26 64062 broad.mit.edu 37 13 79918806 79918807 + Frame_Shift_Ins INS - - T TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr13:79918806_79918807insT ENST00000438737.2 - 15 2621_2622 c.2181_2182insA c.(2179-2184)aaaggafs p.G728fs RBM26_ENST00000438724.1_Frame_Shift_Ins_p.G704fs|RBM26_ENST00000267229.7_Frame_Shift_Ins_p.G701fs Q5T8P6 RBM26_HUMAN RNA binding motif protein 26 728 mRNA processing nucleotide binding|protein binding|RNA binding|zinc ion binding NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 Acute lymphoblastic leukemia(28;0.0279) GBM - Glioblastoma multiforme(99;0.0188) GTACTTACCTGTTTTTTTTTCT 0.332 10 296 --- --- --- --- KIAA0391 9692 broad.mit.edu 37 14 35592700 35592700 + Frame_Shift_Del DEL T T - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr14:35592700delT ENST00000557565.1 + 2 630 c.249delT c.(247-249)cafs p.H83fs KIAA0391_ENST00000605870.1_Intron|KIAA0391_ENST00000604948.1_Intron|KIAA0391_ENST00000603544.1_Frame_Shift_Del_p.H83fs|KIAA0391_ENST00000250377.7_5'UTR|KIAA0391_ENST00000534898.4_Frame_Shift_Del_p.H83fs|KIAA0391_ENST00000321130.10_Frame_Shift_Del_p.H83fs|KIAA0391_ENST00000603588.1_Intron O15091 MRRP3_HUMAN KIAA0391 83 tRNA processing mitochondrion central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 14 Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184) Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277) GBM - Glioblastoma multiforme(112;0.0593) CTGTTCCTCATTTTTTTTTAG 0.423 13 306 --- --- --- --- FANCM 57697 broad.mit.edu 37 14 45642288 45642289 + Frame_Shift_Del DEL CT CT - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 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 7 595 --- --- --- --- ZBTB1 22890 broad.mit.edu 37 14 64989787 64989787 + Frame_Shift_Del DEL A A - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr14:64989787delA ENST00000358738.3 + 2 1956 c.1565delA c.(1564-1566)cafs p.Q522fs ZBTB1_ENST00000394712.2_Frame_Shift_Del_p.Q522fs|ZBTB1_ENST00000554015.1_Frame_Shift_Del_p.Q522fs|RP11-973N13.4_ENST00000554918.1_RNA NM_014950.2 NP_055765.2 Q9Y2K1 ZBTB1_HUMAN zinc finger and BTB domain containing 1 522 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 13 all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294) UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012) AACAGTATCCAAAAAAAGCAG 0.378 7 1125 --- --- --- --- RBM25 58517 broad.mit.edu 37 14 73572607 73572608 + Frame_Shift_Del DEL AG AG - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr14:73572607_73572608delAG ENST00000261973.7 + 11 1480_1481 c.1195_1196delAG c.(1195-1197)afs p.R399fs RBM25_ENST00000527432.1_Frame_Shift_Del_p.R399fs NM_021239.2 NP_067062.1 P49756 RBM25_HUMAN RNA binding motif protein 25 399 Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization. apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing cytoplasm|nuclear speck mRNA binding|nucleotide binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1) 31 BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688) agagcgggaaagagagagagag 0.446 12 238 --- --- --- --- ELMSAN1 91748 broad.mit.edu 37 14 74205926 74205928 + In_Frame_Del DEL CTG CTG - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr14:74205926_74205928delCTG ENST00000286523.5 - 2 1566_1568 c.784_786delCAG c.(784-786)del p.Q262del ELMSAN1_ENST00000394071.2_In_Frame_Del_p.Q262del NM_194278.3 NP_919254.2 ELM2 and Myb/SANT-like domain containing 1 GTAGGgctgcctgctgctgctgc 0.650 13 197 --- --- --- --- RP11-69H14.6 0 broad.mit.edu 37 15 22332412 22332413 + RNA INS - - A TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr15:22332412_22332413insA ENST00000558896.1 + 0 219_220 TTGGCTTGATGAAAAAAAACAA 0.322 8 848 --- --- --- --- HERC2P2 0 broad.mit.edu 37 15 23285254 23285268 + RNA DEL TCCCTTCCCTTCCCT TCCCTTCCCTTCCCT - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr15:23285254_23285268delTCCCTTCCCTTCCCT ENST00000560464.1 - 0 5097 CTTTCTTCTCtcccttcccttcccttcccttccct 0.474 19 12 --- --- --- --- RMDN3 55177 broad.mit.edu 37 15 41029893 41029894 + Frame_Shift_Ins INS - - T TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr15:41029893_41029894insT ENST00000260385.6 - 9 2223_2224 c.1156_1157insA c.(1156-1158)tgcfs p.C386fs RMDN3_ENST00000338376.3_Frame_Shift_Ins_p.C386fs|RMDN3_ENST00000558560.1_5'UTR regulator of microtubule dynamics 3 GGCTGTAGCAGTTTTTTTTTCT 0.450 10 483 --- --- --- --- ADAMTS7 11173 broad.mit.edu 37 15 79058183 79058184 + Frame_Shift_Ins INS - - TGGGTCC TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr15:79058183_79058184insTGGGTCC ENST00000388820.4 - 19 4279_4280 c.4069_4070insGGACCCA c.(4069-4071)gggfs p.-1357fs NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 AGGCTGACCCTTGGGTCCTGGG 0.653 17 203 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102299886 102299887 + RNA INS - - G TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr15:102299886_102299887insG ENST00000561463.1 + 0 7932_7933 AACCTGTACTCGCGTCGGAACC 0.589 12 36 --- --- --- --- UBN1 29855 broad.mit.edu 37 16 4910691 4910693 + In_Frame_Del DEL AGA AGA - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr16:4910691_4910693delAGA ENST00000396658.4 + 6 1401_1403 c.698_700delAGA c.(697-702)gag>g p.EK233del UBN1_ENST00000590769.1_In_Frame_Del_p.EK233del|UBN1_ENST00000545171.1_In_Frame_Del_p.EK233del|UBN1_ENST00000262376.6_In_Frame_Del_p.EK233del NM_016936.3 NP_058632.2 Q9NPG3 UBN1_HUMAN ubinuclein 1 233 Lys-rich. chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity p.K234E(1) NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 GCCAGTAAGGAGAAGAAGAAGAA 0.453 16 1653 --- --- --- --- TNRC6A 27327 broad.mit.edu 37 16 24807240 24807240 + Frame_Shift_Del DEL A A - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr16:24807240delA ENST00000395799.3 + 9 3670 c.3541delA c.(3541-3543)aafs p.K1182fs TNRC6A_ENST00000315183.7_Frame_Shift_Del_p.K1182fs NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 1182 Sufficient for interaction with EIF2C1 and EIF2C4. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) TCTGAGTGGCAAAAAAAGGAG 0.398 9 1215 --- --- --- --- RABEP2 79874 broad.mit.edu 37 16 28931200 28931202 + In_Frame_Del DEL CTG CTG - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr16:28931200_28931202delCTG ENST00000358201.4 - 3 925_927 c.337_339delCAG c.(337-339)del p.Q113del RABEP2_ENST00000561803.1_5'UTR|RABEP2_ENST00000357573.6_In_Frame_Del_p.Q113del|RABEP2_ENST00000544477.1_In_Frame_Del_p.Q42del NM_024816.2 NP_079092.2 Q9H5N1 RABE2_HUMAN rabaptin, RAB GTPase binding effector protein 2 113 Poly-Gln. endocytosis|protein transport early endosome growth factor activity|GTPase activator activity breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 16 CCTCACAGTCCTGCTGCTGCTGC 0.640 7 359 --- --- --- --- RRN3P2 0 broad.mit.edu 37 16 29110406 29110406 + RNA DEL T T - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr16:29110406delT ENST00000564580.1 + 0 1098 TTAAAAAATCTTTTTTTTTTT 0.299 8 152 --- --- --- --- TAOK2 9344 broad.mit.edu 37 16 29998498 29998500 + In_Frame_Del DEL CTG CTG - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr16:29998498_29998500delCTG ENST00000308893.4 + 16 3948_3950 c.2905_2907delCTG c.(2905-2907)del p.L974del TAOK2_ENST00000416441.2_In_Frame_Del_p.L801del|TAOK2_ENST00000543033.1_In_Frame_Del_p.L861del|TAOK2_ENST00000279394.3_Intron 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 7 629 --- --- --- --- RP11-51O6.1 0 broad.mit.edu 37 16 61089302 61089302 + RNA DEL C C - rs80101907 TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr16:61089302delC ENST00000591758.1 - 0 566 GCttcttcttctttttttttt 0.244 19 144 --- --- --- --- CTRL 1506 broad.mit.edu 37 16 67963919 67963919 + Frame_Shift_Del DEL T T - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr16:67963919delT ENST00000574481.1 - 7 1274 c.713delA c.(712-714)acfs p.N238fs NM_001907.2 NP_001898.1 P40313 CTRL_HUMAN chymotrypsin-like 238 Peptidase S1. digestion|proteolysis extracellular space serine-type endopeptidase activity kidney(1)|large_intestine(2)|urinary_tract(1) 4 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118) CACATTGCAGTTTTTGGTGCC 0.552 7 714 --- --- --- --- ZFP90 146198 broad.mit.edu 37 16 68598462 68598463 + Frame_Shift_Ins INS - - A TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr16:68598462_68598463insA ENST00000570495.1 + 5 2064_2065 c.1772_1773insA c.(1771-1773)caafs p.Q591fs ZFP90_ENST00000563169.2_Frame_Shift_Ins_p.Q591fs|ZFP90_ENST00000398253.2_Frame_Shift_Ins_p.Q591fs|RP11-615I2.7_ENST00000571720.1_RNA Q8TF47 ZFP90_HUMAN ZFP90 zinc finger protein 591 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 27 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946) AGAGCCTTCCGAAAAAAAACCA 0.411 10 1206 --- --- --- --- ANKRD11 29123 broad.mit.edu 37 16 89349640 89349641 + Frame_Shift_Ins INS - - T TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr16:89349640_89349641insT ENST00000301030.4 - 9 3769_3770 c.3309_3310insA c.(3307-3312)aaatgafs p.*1104fs ANKRD11_ENST00000378330.2_Frame_Shift_Ins_p.*1104fs NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 1104 Lys-rich. nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) TTCTTGTCATCTTTTTTTTCAG 0.465 18 1118 --- --- --- --- RP11-314A20.2 0 broad.mit.edu 37 17 4608074 4608075 + RNA DEL GT GT - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr17:4608074_4608075delGT ENST00000497885.1 + 0 141 NR_103482.1 AATCAGTAACGTGTGTGTGTGT 0.515 7 93 --- --- --- --- CHD3 1107 broad.mit.edu 37 17 7801857 7801859 + In_Frame_Del DEL AAG AAG - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr17:7801857_7801859delAAG ENST00000380358.4 + 13 2273_2275 c.2272_2274delAAG c.(2272-2274)del p.K762del CHD3_ENST00000358181.4_In_Frame_Del_p.K703del|CHD3_ENST00000330494.7_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 8 293 --- --- --- --- RAI1 10743 broad.mit.edu 37 17 17699993 17699995 + In_Frame_Del DEL GCA GCA - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr17:17699993_17699995delGCA ENST00000353383.1 + 3 4200_4202 c.3731_3733delGCA c.(3730-3735)cgc>c p.RS1244del RAI1_ENST00000261641.6_In_Frame_Del_p.RS1244del NM_030665.3 NP_109590.3 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 1244 Poly-Ser. cytoplasm|nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7) 48 READ - Rectum adenocarcinoma(1115;0.0276) TTGCGGAGCCGCAGCAGCAGCAG 0.626 11 343 --- --- --- --- NUFIP2 57532 broad.mit.edu 37 17 27620990 27620992 + In_Frame_Del DEL GCT GCT - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr17:27620990_27620992delGCT ENST00000225388.4 - 1 144_146 c.86_88delAGC c.(85-90)ccg>c p.QP29del NUFIP2_ENST00000579665.1_In_Frame_Del_p.QP29del NM_020772.2 NP_065823.1 Q7Z417 NUFP2_HUMAN nuclear fragile X mental retardation protein interacting protein 2 29 His-rich. nucleus|polysomal ribosome protein binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 24 BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551) tggtggtgcggctgctgctgctg 0.591 17 601 --- --- --- --- ZNF207 7756 broad.mit.edu 37 17 30677314 30677316 + In_Frame_Del DEL AAG AAG - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr17:30677314_30677316delAAG ENST00000394670.4 + 1 179_181 c.10_12delAAG c.(10-12)del p.K7del ZNF207_ENST00000577908.1_In_Frame_Del_p.K7del|ZNF207_ENST00000341711.6_In_Frame_Del_p.K7del|ZNF207_ENST00000321233.6_In_Frame_Del_p.K7del|RP11-227G15.3_ENST00000581915.1_RNA|ZNF207_ENST00000394673.2_In_Frame_Del_p.K7del|ZNF207_ENST00000342555.6_5'UTR 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 7 1426 --- --- --- --- GAS2L2 246176 broad.mit.edu 37 17 34071994 34071996 + In_Frame_Del DEL TCC TCC - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 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 9 395 --- --- --- --- BRCA1 672 broad.mit.edu 37 17 41246532 41246532 + Frame_Shift_Del DEL T T - rs80357911 TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr17:41246532delT ENST00000309486.4 - 9 1155 c.128delA c.(127-129)agfs p.K43fs BRCA1_ENST00000354071.3_Frame_Shift_Del_p.K339fs|BRCA1_ENST00000357654.3_Frame_Shift_Del_p.K339fs|BRCA1_ENST00000471181.2_Frame_Shift_Del_p.K339fs|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000493795.1_Frame_Shift_Del_p.K292fs|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000346315.3_Frame_Shift_Del_p.K339fs|BRCA1_ENST00000352993.3_Intron NM_007297.3 NP_009228.2 P38398 BRCA1_HUMAN breast cancer 1, early onset 339 androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2) 120 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) CAGATCTACCTTTTTTTCTGT 0.438 """D, Mis, N, F, S""" ovarian """breast, ovarian""" Homologous recombination Hereditary Breast-Ovarian Cancer, BRCA1 type TCGA Ovarian(2;0.000030) 7 1356 --- --- --- --- CDC27 996 broad.mit.edu 37 17 45219612 45219612 + Frame_Shift_Del DEL A A - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr17:45219612delA ENST00000066544.3 - 11 1454 c.1361delT c.(1360-1362)cafs p.L454fs CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 454 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 TGCTTTTTGTAGATTAAAGGC 0.308 26 194 --- --- --- --- PPM1D 8493 broad.mit.edu 37 17 58740624 58740624 + Frame_Shift_Del DEL A A - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr17:58740624delA ENST00000305921.3 + 6 1761 c.1529delA c.(1528-1530)cafs p.Q510fs NM_003620.3 NP_003611.1 O15297 PPM1D_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1D 510 negative regulation of cell proliferation|protein dephosphorylation|response to radiation nucleus|protein serine/threonine phosphatase complex metal ion binding|protein binding|protein serine/threonine phosphatase activity p.N512fs*2(1) haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 15 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;6.75e-12)|all cancers(12;1.96e-10) GTCATGGACCAAAAAAATTTG 0.378 OREG0031485 type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 10 540 --- --- --- --- AMZ2P1 0 broad.mit.edu 37 17 62968575 62968575 + RNA DEL T T - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr17:62968575delT ENST00000430983.1 - 0 1593 NR_026903.1 TTGGTTGGAATTTTTTTCCCT 0.333 9 400 --- --- --- --- BPTF 2186 broad.mit.edu 37 17 65899951 65899951 + Frame_Shift_Del DEL A A - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr17:65899951delA ENST00000321892.4 + 10 3029 c.2968delA c.(2968-2970)aafs p.K992fs BPTF_ENST00000306378.6_Frame_Shift_Del_p.K866fs|BPTF_ENST00000335221.5_Frame_Shift_Del_p.K992fs|BPTF_ENST00000424123.3_Frame_Shift_Del_p.K853fs Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 992 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) ggagaaagtcaaaaaaaaaga 0.338 13 451 --- --- --- --- BPTF 2186 broad.mit.edu 37 17 65905759 65905759 + Frame_Shift_Del DEL A A - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr17:65905759delA ENST00000321892.4 + 12 3313 c.3252delA c.(3250-3252)ccfs p.P1084fs BPTF_ENST00000306378.6_Frame_Shift_Del_p.P958fs|BPTF_ENST00000335221.5_Frame_Shift_Del_p.P1084fs|BPTF_ENST00000424123.3_Frame_Shift_Del_p.P945fs Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 1084 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) CACGAAGTCCAAAAAAAATAA 0.308 8 380 --- --- --- --- LRRC37A16P 0 broad.mit.edu 37 17 66141017 66141017 + RNA DEL C C - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr17:66141017delC ENST00000590019.1 - 0 70 AAGATTTCTACAAAAAAAAAA 0.323 7 239 --- --- --- --- MBD3 53615 broad.mit.edu 37 19 1578372 1578374 + In_Frame_Del DEL CTC CTC - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr19:1578372_1578374delCTC ENST00000590550.2 - 5 1046_1048 c.673_675delGAG c.(673-675)del p.E225del MBD3_ENST00000434436.3_In_Frame_Del_p.E281del|MBD3_ENST00000156825.1_In_Frame_Del_p.E281del|MBD3_ENST00000592012.1_In_Frame_Del_p.E249del O95983 MBD3_HUMAN methyl-CpG binding domain protein 3 281 transcription, DNA-dependent NuRD complex DNA binding|protein binding central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 8 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18) CCGGGTCGGGctcctcctcctcc 0.714 7 229 --- --- --- --- TNFSF9 8744 broad.mit.edu 37 19 6531149 6531151 + In_Frame_Del DEL GCT GCT - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr19:6531149_6531151delGCT ENST00000245817.3 + 1 140_142 c.102_104delGCT c.(100-105)ggg>gg p.GL34del NM_003811.3 NP_003802.1 P41273 TNFL9_HUMAN tumor necrosis factor (ligand) superfamily, member 9 34 apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction extracellular space|integral to membrane cytokine activity|tumor necrosis factor receptor binding central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1) 5 TGGTCGCGGGgctgctgctgctg 0.768 9 344 --- --- --- --- OR7E24 26648 broad.mit.edu 37 19 9361741 9361741 + Frame_Shift_Del DEL T T - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr19:9361741delT ENST00000456448.1 + 1 136 c.22delT c.(22-24)ttfs p.F11fs NM_001079935.1 NP_001073404.1 Q6IFN5 O7E24_HUMAN olfactory receptor, family 7, subfamily E, member 24 11 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2) 16 TCCAATTCTCTTTTTTTTTTT 0.388 10 66 --- --- --- --- ECSIT 51295 broad.mit.edu 37 19 11618821 11618821 + Frame_Shift_Del DEL G G - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr19:11618821delG ENST00000270517.7 - 5 916 c.781delC c.(781-783)agfs p.Q261fs ECSIT_ENST00000252440.7_Frame_Shift_Del_p.Q261fs|ECSIT_ENST00000588998.1_Frame_Shift_Del_p.Q47fs|ECSIT_ENST00000417981.2_Frame_Shift_Del_p.Q47fs|ECSIT_ENST00000591352.1_5'UTR|ECSIT_ENST00000592312.1_Frame_Shift_Del_p.Q145fs|ECSIT_ENST00000591104.1_Frame_Shift_Del_p.Q261fs NM_016581.4 NP_057665.2 Q9BQ95 ECSIT_HUMAN ECSIT signalling integrator 261 innate immune response|regulation of oxidoreductase activity mitochondrion oxidoreductase activity, acting on NADH or NADPH|protein binding kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 11 ATGTGGGGCTGGGGGGGATCT 0.582 9 830 --- --- --- --- HAUS8 93323 broad.mit.edu 37 19 17160706 17160707 + Frame_Shift_Del DEL GA GA - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr19:17160706_17160707delGA ENST00000593360.1 - 10 3044_3045 c.1026_1027delTC c.(1024-1029)tcgtfs p.SR342fs HAUS8_ENST00000253669.5_Frame_Shift_Del_p.SR403fs|HAUS8_ENST00000448593.2_Frame_Shift_Del_p.SR402fs Q9BT25 HAUS8_HUMAN HAUS augmin-like complex, subunit 8 403 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle pole endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1) 12 CTCCCTGAACGAGAGAGAGAGG 0.495 16 1637 --- --- --- --- FFAR2 2867 broad.mit.edu 37 19 35940788 35940790 + In_Frame_Del DEL CTG CTG - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr19:35940788_35940790delCTG ENST00000599180.1 + 2 252_254 c.172_174delCTG c.(172-174)del p.L62del FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_In_Frame_Del_p.L62del O15552 FFAR2_HUMAN free fatty acid receptor 2 62 integral to plasma membrane G-protein coupled receptor activity|lipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1) 22 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CGACCTCCTCCTGCTGCTGCTGC 0.645 12 236 --- --- --- --- SPRED3 399473 broad.mit.edu 37 19 38882864 38882866 + In_Frame_Del DEL CCT CCT - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr19:38882864_38882866delCCT ENST00000587013.1 + 3 569_571 c.491_493delCCT c.(490-495)ccc>c p.PS164del SPRED3_ENST00000338502.4_In_Frame_Del_p.PS120del|SPRED3_ENST00000586301.1_In_Frame_Del_p.PS120del|SPRED3_ENST00000587564.2_3'UTR Q2MJR0 SPRE3_HUMAN sprouty-related, EVH1 domain containing 3 120 multicellular organismal development central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1) 9 all_cancers(60;3.4e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) TCACTCAccccctcctcctcctc 0.645 14 214 --- --- --- --- ZFP36 7538 broad.mit.edu 37 19 39898948 39898950 + In_Frame_Del DEL CAC CAC - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr19:39898948_39898950delCAC ENST00000597629.1 + 2 682_684 c.608_610delCAC c.(607-612)tca>t p.SP203del ZFP36_ENST00000248673.3_In_Frame_Del_p.SP197del P26651 TTP_HUMAN ZFP36 ring finger protein 197 positive regulation of nuclear-transcribed mRNA poly(A) tail shortening cytosol|nucleus AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding large_intestine(1)|lung(5)|pancreas(1) 7 all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) CGCCGGACCTCACCACCACCACC 0.685 7 1993 --- --- --- --- LIPE-AS1 0 broad.mit.edu 37 19 43136362 43136363 + RNA DEL TG TG - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr19:43136362_43136363delTG ENST00000594688.1 + 0 1450 LIPE-AS1_ENST00000594624.2_RNA NR_073179.1 TGAGTATGTATGTGTGTGTGTG 0.505 7 168 --- --- --- --- PSG7 5676 broad.mit.edu 37 19 43428981 43428982 + RNA INS - - G TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr19:43428981_43428982insG ENST00000406070.2 - 0 1340 NM_002783.2 NP_002774.2 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) tccagtctacagtggataataa 0.406 49 254 --- --- --- --- RSPH6A 81492 broad.mit.edu 37 19 46299165 46299167 + In_Frame_Del DEL CCT CCT - rs62639328 byFrequency TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr19:46299165_46299167delCCT ENST00000221538.3 - 6 2256_2258 c.2114_2116delAGG c.(2113-2118)ggc>g p.EG705del RSPH6A_ENST00000597055.1_3'UTR|RSPH6A_ENST00000600188.1_In_Frame_Del_p.EG441del NM_030785.3 NP_110412.1 Q9H0K4 RSH6A_HUMAN radial spoke head 6 homolog A (Chlamydomonas) 705 Glu-rich. intracellular central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 tcctcctcgccctcctcctcctc 0.586 33 1521 --- --- --- --- FUZ 80199 broad.mit.edu 37 19 50310483 50310485 + In_Frame_Del DEL CAG CAG - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr19:50310483_50310485delCAG ENST00000313777.4 - 11 1343_1345 c.1180_1182delCTG c.(1180-1182)del p.L394del FUZ_ENST00000445575.2_Intron|FUZ_ENST00000533418.1_In_Frame_Del_p.L344del|FUZ_ENST00000528094.1_In_Frame_Del_p.L358del 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 7 317 --- --- --- --- ZNF552 79818 broad.mit.edu 37 19 58319468 58319468 + Frame_Shift_Del DEL T T - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr19:58319468delT ENST00000391701.1 - 3 1333 c.1164delA c.(1162-1164)aafs p.K388fs ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron NM_024762.3 NP_079038.2 Q9H707 ZN552_HUMAN zinc finger protein 552 388 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259) TTTGCCTAAATTTTTTTTCAC 0.413 9 801 --- --- --- --- ADNP 23394 broad.mit.edu 37 20 49508204 49508204 + Frame_Shift_Del DEL T T - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr20:49508204delT ENST00000396029.3 - 5 3614 c.3047delA c.(3046-3048)agfs p.K1016fs ADNP_ENST00000396032.3_Frame_Shift_Del_p.K1016fs|ADNP_ENST00000349014.3_Frame_Shift_Del_p.K1016fs|ADNP_ENST00000371602.4_Frame_Shift_Del_p.K1016fs NM_015339.2 NP_056154.1 Q9H2P0 ADNP_HUMAN activity-dependent neuroprotector homeobox 1016 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2) 39 CATGGTAGCCTTTTTTTTGGC 0.458 10 746 --- --- --- --- CTCFL 140690 broad.mit.edu 37 20 56099187 56099187 + Frame_Shift_Del DEL T T - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr20:56099187delT ENST00000426658.2 - 1 736 c.75delA c.(73-75)aafs p.K25fs CTCFL_ENST00000432255.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422109.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000243914.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000423479.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422869.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000429804.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000371196.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000433949.2_Frame_Shift_Del_p.K25fs Q8NI51 CTCFL_HUMAN CCCTC-binding factor (zinc finger protein)-like 25 cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) CCTTCAGGCCTTTTTCCGGCA 0.502 24 2644 --- --- --- --- ANKRD20A11P 0 broad.mit.edu 37 21 15343608 15343609 + RNA INS - - A TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr21:15343608_15343609insA ENST00000344693.5 - 0 736 NR_027270.1 TAAAACAGCAGAAAAAATTAAT 0.272 7 472 --- --- --- --- LINC00162 0 broad.mit.edu 37 21 46421847 46421852 + RNA DEL CAGCCC CAGCCC - rs881968 by1000genomes TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr21:46421847_46421852delCAGCCC ENST00000422199.1 - 0 284 NR_024089.1 ACGACTGTGTCAgcccctgcccctgc 0.665 8 3 --- --- --- --- MED15 51586 broad.mit.edu 37 22 20918817 20918819 + In_Frame_Del DEL CAG CAG - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr22:20918817_20918819delCAG ENST00000263205.7 + 6 601_603 c.532_534delCAG c.(532-534)del p.Q188del MED15_ENST00000406969.1_In_Frame_Del_p.Q162del|MED15_ENST00000382974.2_In_Frame_Del_p.Q117del|MED15_ENST00000292733.7_In_Frame_Del_p.Q188del|MED15_ENST00000542773.1_5'UTR|MED15_ENST00000425759.2_In_Frame_Del_p.Q77del|MED15_ENST00000541476.1_In_Frame_Del_p.Q162del NM_001003891.1 NP_001003891.1 Q96RN5 MED15_HUMAN mediator complex subunit 15 188 Poly-Gln. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) ggcggcgctacagcagcagcagc 0.626 OREG0026319 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 184 --- --- --- --- LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664078 22664079 + RNA DEL TT TT - rs114253646 by1000genomes TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr22:22664078_22664079delTT ENST00000426066.1 + 0 623 NR_027293.1 TGTGTGTGTGTTTTTATCTTGC 0.381 12 381 --- --- --- --- MYO18B 84700 broad.mit.edu 37 22 26348272 26348274 + In_Frame_Del DEL CAT CAT - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr22:26348272_26348274delCAT ENST00000335473.7 + 38 6103_6105 c.5853_5855delCAT c.(5851-5856)cgc>cg p.RI1951del MYO18B_ENST00000536101.1_In_Frame_Del_p.RI1951del|MYO18B_ENST00000407587.2_In_Frame_Del_p.RI1952del NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1951 Tail. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 CTCAGATGCGCATCGAGTACCTG 0.547 7 96 --- --- --- --- SF3A1 10291 broad.mit.edu 37 22 30742328 30742330 + In_Frame_Del DEL CTG CTG - rs141985009 byFrequency TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr22:30742328_30742330delCTG ENST00000215793.7 - 3 518_520 c.364_366delCAG c.(364-366)del p.Q122del SF3A1_ENST00000439242.1_Intron NM_005877.4 NP_005868.1 Q15459 SF3A1_HUMAN splicing factor 3a, subunit 1, 120kDa 122 Poly-Gln. nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1) 29 GCTGGGTGGTCTGCTGCTGCTGC 0.606 12 665 --- --- --- --- SH3BP1 23616 broad.mit.edu 37 22 38039752 38039754 + In_Frame_Del DEL AGG AGG - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr22:38039752_38039754delAGG ENST00000599616.1 + 5 383_385 c.383_385delAGG c.(382-387)aag>a p.KE128del SH3BP1_ENST00000357436.4_In_Frame_Del_p.KE192del|Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000442465.2_In_Frame_Del_p.KE192del|SH3BP1_ENST00000336738.5_In_Frame_Del_p.KE192del|SH3BP1_ENST00000495174.1_3'UTR Q9Y3L3 3BP1_HUMAN SH3-domain binding protein 1 192 BAR. signal transduction cytoplasm GTPase activator activity|SH3 domain binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Melanoma(58;0.0574) GAGACGCTGAAGGAGGAGGAGGA 0.606 OREG0026546 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 447 --- --- --- --- TRIOBP 11078 broad.mit.edu 37 22 38119882 38119884 + In_Frame_Del DEL CCT CCT - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr22:38119882_38119884delCCT ENST00000406386.3 + 7 1574_1576 c.1319_1321delCCT c.(1318-1323)gcc>g p.AS440del RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 440 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) AATCCCAGAGCCTCCTCTCCCAG 0.601 18 588 --- --- --- --- TCF20 6942 broad.mit.edu 37 22 42605990 42605992 + In_Frame_Del DEL CTG CTG - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 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 8 679 --- --- --- --- TCF20 6942 broad.mit.edu 37 22 42610776 42610778 + In_Frame_Del DEL TGC TGC - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr22:42610776_42610778delTGC ENST00000359486.3 - 1 670_672 c.534_536delGCA c.(532-537)caa>ca p.QQ178del TCF20_ENST00000335626.4_In_Frame_Del_p.QQ178del NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 178 Poly-Gln. 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 CTGCTGGACTTGCTGCTGCTGCT 0.571 7 518 --- --- --- --- ARFGAP3 26286 broad.mit.edu 37 22 43218401 43218401 + Frame_Shift_Del DEL T T - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chr22:43218401delT ENST00000263245.5 - 9 906 c.687delA c.(685-687)aafs p.K229fs ARFGAP3_ENST00000429508.2_Frame_Shift_Del_p.K157fs|ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.K185fs NM_001142293.1|NM_014570.4 NP_001135765.1|NP_055385.3 Q9NP61 ARFG3_HUMAN ADP-ribosylation factor GTPase activating protein 3 229 intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport cytosol|Golgi membrane ARF GTPase activator activity|protein transporter activity|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1) 11 CCAAACTTCCTTTTTTGGCCC 0.423 9 947 --- --- --- --- NUDT11 0 broad.mit.edu 37 X 51239296 51239309 + Translation_Start_Site DEL TCCTCGAGGCAGCC TCCTCGAGGCAGCC - rs78182391 TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chrX:51239296_51239309delTCCTCGAGGCAGCC ENST00000375992.3 - 0 139_152 NM_018159.3 NP_060629.2 Q96G61 NUD11_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 11 cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.?(5) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2) 9 Ovarian(276;0.236) TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC 0.692 HNSCC(48;0.14) 9 24 --- --- --- --- TSIX 0 broad.mit.edu 37 X 73047124 73047125 + RNA DEL AC AC - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chrX:73047124_73047125delAC ENST00000604411.1 + 0 35085_35086 XIST_ENST00000429829.1_lincRNA NR_003255.2 GCCACACATGACACACACACAC 0.470 8 418 --- --- --- --- BHLHB9 80823 broad.mit.edu 37 X 102004419 102004421 + In_Frame_Del DEL GAG GAG - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chrX:102004419_102004421delGAG ENST00000372735.1 + 4 1081_1083 c.496_498delGAG c.(496-498)del p.E171del BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del|BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del Q6PI77 BHLH9_HUMAN basic helix-loop-helix domain containing, class B, 9 171 Poly-Glu. cytoplasm|nucleus binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 GTCAGGGGCTGAGGAGGAGGAGG 0.488 11 683 --- --- --- --- HTATSF1 27336 broad.mit.edu 37 X 135585048 135585050 + In_Frame_Del DEL AAG AAG - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 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 8 441 --- --- --- --- F8 2157 broad.mit.edu 37 X 154157686 154157686 + Frame_Shift_Del DEL T T - TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chrX:154157686delT ENST00000360256.4 - 14 4579 c.4379delA c.(4378-4380)atfs p.N1461fs NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 1461 B. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding p.N1460fs*5(2)|p.N1460fs*2(2) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) AGAAAGGTTATTTTTTTTGGC 0.413 9 492 --- --- --- --- UTY 7404 broad.mit.edu 37 Y 15448217 15448218 + Splice_Site INS - - A TCGA-HZ-A4BH-01A-11D-A26I-08 TCGA-HZ-A4BH-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 449b0a3a-5c4c-4117-852f-5b732b395e80 f65e31fb-81af-4b3c-82cf-bd086025d453 g.chrY:15448217_15448218insA ENST00000331397.4 - 16 2778 c.e16-2 UTY_ENST00000545955.1_Splice_Site|UTY_ENST00000540140.1_Splice_Site|UTY_ENST00000538878.1_Splice_Site|UTY_ENST00000537580.1_Splice_Site|UTY_ENST00000382896.4_Splice_Site|UTY_ENST00000362096.4_Splice_Site|UTY_ENST00000329134.5_Splice_Site NM_001258267.1|NM_007125.4 NP_001245196.1|NP_009056.3 O14607 UTY_HUMAN ubiquitously transcribed tetratricopeptide repeat containing, Y-linked chromatin modification nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen kidney(1)|lung(6) 7 ATGAAGCCCCTAAAAAAAAAAA 0.361 10 160 --- --- --- ---