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 PCDHB3 0 broad.mit.edu 37 5 140482066 140482066 + Silent SNP G G A TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr5:140482066G>A ENST00000231130.2 + 1 1833 c.1833G>A c.(1831-1833)gaG>gaA p.E611E NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 611 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding p.E611D(1) NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGGCCACGGAGCCCGGGCTGT 0.706000 29 619 0 0 1 0 0 TSC2 7249 broad.mit.edu 37 16 2137908 2137908 + Silent SNP C C T rs45467993 TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr16:2137908C>T ENST00000219476.3 + 39 5664 c.5034C>T c.(5032-5034)taC>taT p.Y1678Y TSC2_ENST00000568454.1_Silent_p.Y1622Y|TSC2_ENST00000439673.2_Silent_p.Y1575Y|TSC2_ENST00000350773.4_Silent_p.Y1655Y|TSC2_ENST00000401874.2_Silent_p.Y1611Y|TSC2_ENST00000382538.6_Silent_p.Y1563Y|TSC2_ENST00000353929.4_Silent_p.Y1635Y NM_000548.3 NP_000539.2 P49815 TSC2_HUMAN tuberous sclerosis 2 1678 Rap-GAP. cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex GTPase activator activity|protein homodimerization activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1) 56 Hepatocellular(780;0.0202) CGCTGGACTACGAGTGCAACC 0.642000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 11 228 0 0 1 0 0 UGP2 7360 broad.mit.edu 37 2 64117306 64117306 + Missense_Mutation SNP A A G TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr2:64117306A>G ENST00000337130.5 + 9 1882 c.1406A>G c.(1405-1407)aAt>aGt p.N469S UGP2_ENST00000467648.2_Missense_Mutation_p.N458S|UGP2_ENST00000445915.2_Missense_Mutation_p.N478S|UGP2_ENST00000394417.2_Missense_Mutation_p.N458S NM_006759.3 NP_006750.3 Q16851 UGPA_HUMAN UDP-glucose pyrophosphorylase 2 469 Oligomerization (By similarity). glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process cytosol metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1) 18 TTTGGAAAAAATGTTTCATTA 0.289000 29 254 0 0 1 0 0 MTTP 4547 broad.mit.edu 37 4 100512445 100512445 + Silent SNP G G C TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr4:100512445G>C ENST00000457717.1 + 6 811 c.555G>C c.(553-555)gtG>gtC p.V185V MTTP_ENST00000265517.5_Silent_p.V185V|MTTP_ENST00000511045.1_Silent_p.V212V NM_000253.2 NP_000244.2 P55157 MTP_HUMAN microsomal triglyceride transfer protein 185 Vitellogenin. lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1) 57 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) AAGACAAAGTGATCAAAATTA 0.403000 47 389 0 0 1 0 0 DDR2 4921 broad.mit.edu 37 1 162688902 162688902 + Missense_Mutation SNP A A G TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr1:162688902A>G ENST00000367922.2 + 4 487 c.49A>G c.(49-51)Atc>Gtc p.I17V DDR2_ENST00000367921.3_Missense_Mutation_p.I17V NM_001014796.1 NP_001014796.1 Q16832 DDR2_HUMAN discoidin domain receptor tyrosine kinase 2 17 cell adhesion integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1) 7 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.113) GCTGCTGCCTATCTTGAGTTC 0.438000 48 393 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145293269 145293269 + Splice_Site SNP G G A rs61350760 by1000genomes TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr1:145293269G>A ENST00000369338.1 + 1 155 c.e1+1 NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_Splice_Site A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) TTTCACAACAGTAAGTTAAGA 0.423000 28 446 0 0 1 0 0 IP6K2 51447 broad.mit.edu 37 3 48726088 48726088 + Missense_Mutation SNP C C T TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr3:48726088C>T ENST00000328631.5 - 6 1122 c.899G>A c.(898-900)cGc>cAc p.R300H NM_001005909.2|NM_016291.3 NP_001005909.1|NP_057375.2 Q9UHH9 IP6K2_HUMAN inositol hexakisphosphate kinase 2 300 negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway intermediate filament cytoskeleton|nucleus ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 15 GAGTTCACGGCGCAGGTACCG 0.567000 19 389 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593016 96593016 + Missense_Mutation SNP C C A rs79307257 by1000genomes TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr2:96593016C>A ENST00000456556.1 - 28 1969 c.1885G>T c.(1885-1887)Gat>Tat p.D629Y ankyrin repeat domain 36C p.D629Y(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 GAAACAGAATCTTTCTCATCA 0.318000 15 296 5.3912e-06 5.64551e-06 1 1 0 RP11-114H24.7 0 broad.mit.edu 37 15 78211148 78211148 + RNA SNP C C T rs12592276 by1000genomes TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr15:78211148C>T ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA AGCTGCTTGTCGAGCTTGTGG 0.597000 17 410 0 0 1 0 0 HELQ 113510 broad.mit.edu 37 4 84353360 84353360 + Silent SNP C C T TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr4:84353360C>T ENST00000295488.3 - 10 2271 c.2109G>A c.(2107-2109)caG>caA p.Q703Q HELQ_ENST00000510985.1_Silent_p.Q636Q NM_133636.2 NP_598375.2 Q8TDG4 HELQ_HUMAN helicase, POLQ-like 703 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2) 38 TGCCAATCATCTGTTTATATT 0.358000 Other identified genes with known or suspected DNA repair function 18 298 0 0 1 0 0 MATN4 8785 broad.mit.edu 37 20 43926857 43926857 + Missense_Mutation SNP C C T TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr20:43926857C>T ENST00000537548.1 - 8 1623 c.1379G>A c.(1378-1380)cGc>cAc p.R460H MATN4_ENST00000372753.1_Missense_Mutation_p.R311H|MATN4_ENST00000372754.1_Missense_Mutation_p.R501H|MATN4_ENST00000372756.1_Missense_Mutation_p.R460H|MATN4_ENST00000342716.4_Missense_Mutation_p.R460H|MATN4_ENST00000353917.5_Missense_Mutation_p.R378H|MATN4_ENST00000372751.4_Missense_Mutation_p.R311H|MATN4_ENST00000360607.5_Missense_Mutation_p.R419H O95460 MATN4_HUMAN matrilin 4 501 VWFA 2. extracellular region protein binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Myeloproliferative disorder(115;0.0122) ATCCTGGGAGCGGCCATCCGT 0.672000 32 380 0 0 1 0 0 PRDM13 59336 broad.mit.edu 37 6 100061823 100061823 + Missense_Mutation SNP C C T TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr6:100061823C>T ENST00000369214.1 + 4 1603 c.1342C>T c.(1342-1344)Ccc>Tcc p.P448S PRDM13_ENST00000369215.4_Missense_Mutation_p.P438S NM_021620.3 NP_067633.2 Q9H4Q3 PRD13_HUMAN PR domain containing 13 438 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1) 17 all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186) BRCA - Breast invasive adenocarcinoma(108;0.0598) CGCGCTGCCGCCCCTCGACCC 0.731000 13 154 0 0 1 0 0 CYP4Z2P 0 broad.mit.edu 37 1 47325354 47325354 + RNA SNP G G A rs4660360 by1000genomes TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr1:47325354G>A ENST00000505841.1 - 0 1175 NR_002788.2 CATCTGGAAAGGTAATGGGTT 0.438000 44 386 0 0 1 0 0 WASH2P 0 broad.mit.edu 37 2 114356221 114356221 + RNA SNP C C T TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr2:114356221C>T ENST00000538033.2 + 0 2401 GTGAGGGGCCCGGAGGAGCCT 0.657000 5 23 0 0 1 0 0 HERC2P2 0 broad.mit.edu 37 15 23283320 23283320 + RNA SNP C C A rs149049629 by1000genomes TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr15:23283320C>A ENST00000560464.1 - 0 5097 CAGCGTGTGCCTTTTCCTTCC 0.453000 26 216 1.7881e-09 1.89028e-09 1 1 0 NCOR1P1 0 broad.mit.edu 37 20 26084094 26084094 + RNA SNP T T C TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr20:26084094T>C ENST00000478176.1 - 0 363 NR_003678.1 aaaacataCATTCTTAGAATA 0.299000 5 106 0 0 1 0 0 WHAMMP3 0 broad.mit.edu 37 15 23191911 23191911 + RNA SNP C C T rs147199465 by1000genomes TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr15:23191911C>T ENST00000400153.2 - 0 1785 NR_003521.1 TGATTTTCTTCGCACTGATCC 0.408000 9 162 0 0 1 0 0 FNDC1 84624 broad.mit.edu 37 6 159653921 159653921 + Missense_Mutation SNP G G A TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr6:159653921G>A ENST00000297267.9 + 11 2577 c.2377G>A c.(2377-2379)Gat>Aat p.D793N FNDC1_ENST00000340366.6_Missense_Mutation_p.D730N NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 793 extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) CGGTGACGGCGATAGGGAAGA 0.632000 10 110 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 9 211 0 0 1 0 0 RP11-445N18.7 0 broad.mit.edu 37 10 45652235 45652235 + RNA SNP C C G rs149362183 TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr10:45652235C>G ENST00000427229.2 + 0 1749 GAAGGAACATCTGAAGGAACA 0.478000 17 117 0 0 1 0 0 UBQLN3 50613 broad.mit.edu 37 11 5529285 5529285 + Missense_Mutation SNP G G T TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr11:5529285G>T ENST00000311659.4 - 2 1651 c.1504C>A c.(1504-1506)Caa>Aaa p.Q502K HBG2_ENST00000380259.2_Intron NM_017481.2 NP_059509.1 Q9H347 UBQL3_HUMAN ubiquilin 3 502 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) AGCTGTGGTTGTATCTCATCC 0.587000 23 367 2.32416e-17 2.50467e-17 1 1 0 CLEC4M 10332 broad.mit.edu 37 19 7833838 7833838 + Silent SNP C C A TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr19:7833838C>A ENST00000327325.5 + 7 1282 c.1164C>A c.(1162-1164)atC>atA p.I388I CLEC4M_ENST00000596363.1_3'UTR|CLEC4M_ENST00000595496.1_Silent_p.I252I|CLEC4M_ENST00000394122.2_Silent_p.I376I|CLEC4M_ENST00000596707.1_Silent_p.I321I|CLEC4M_ENST00000334806.5_Silent_p.I337I|CLEC4M_ENST00000359059.5_Silent_p.I321I|CLEC4M_ENST00000597522.1_3'UTR|CLEC4M_ENST00000357361.2_3'UTR|CLEC4M_ENST00000248228.4_Silent_p.I366I NM_001144909.1|NM_014257.4 NP_001138381.1|NP_055072.3 Q9H2X3 CLC4M_HUMAN C-type lectin domain family 4, member M 388 C-type lectin. cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to plasma membrane ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1) 26 ATTACTGGATCTGCAAAAAGC 0.498000 24 384 0.000295444 0.00030365 1 1 0 SHROOM2 357 broad.mit.edu 37 X 9907312 9907312 + Missense_Mutation SNP C C T TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chrX:9907312C>T ENST00000380913.3 + 8 4307 c.4217C>T c.(4216-4218)gCg>gTg p.A1406V SHROOM2_ENST00000418909.2_Missense_Mutation_p.A241V NM_001649.2 NP_001640.1 Q13796 SHRM2_HUMAN shroom family member 2 1406 ASD2. apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 57 Hepatocellular(5;0.000888) GCCCCCAAGGCGGAGCTGCTG 0.597000 9 59 0 0 1 0 0 KCNK13 56659 broad.mit.edu 37 14 90650874 90650874 + Nonsense_Mutation SNP G G T TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr14:90650874G>T ENST00000282146.4 + 2 1195 c.754G>T c.(754-756)Gag>Tag p.E252* NM_022054.2 NP_071337.2 Q9HB14 KCNKD_HUMAN potassium channel, subfamily K, member 13 252 integral to membrane potassium channel activity|voltage-gated ion channel activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4) 25 all_cancers(154;0.186) CGCCCACTATGAGAGCCAAGG 0.493000 31 472 1.32181e-22 1.43844e-22 1 1 0 MIA3 375056 broad.mit.edu 37 1 222835427 222835427 + Nonsense_Mutation SNP C C T TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr1:222835427C>T ENST00000344922.5 + 25 5168 c.5143C>T c.(5143-5145)Cga>Tga p.R1715* MIA3_ENST00000340535.7_Nonsense_Mutation_p.R593*|MIA3_ENST00000344441.6_Nonsense_Mutation_p.R1715*|MIA3_ENST00000344507.1_Intron NM_198551.2 NP_940953.2 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 1715 Pro-rich. exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1) 80 GBM - Glioblastoma multiforme(131;0.0199) ACCTCATCCTCGATGGTCAGC 0.443000 43 309 0 0 1 0 0 ASTN2 23245 broad.mit.edu 37 9 119903693 119903693 + Silent SNP G G A rs115011238 byFrequency TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr9:119903693G>A ENST00000313400.4 - 4 1180 c.1080C>T c.(1078-1080)cgC>cgT p.R360R ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000373996.3_Silent_p.R360R O75129 ASTN2_HUMAN astrotactin 2 360 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 GCGTGTTAGCGCGGAAACTCT 0.587000 19 259 0 0 1 0 0 CDH10 1008 broad.mit.edu 37 5 24535262 24535262 + Missense_Mutation SNP G G A TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr5:24535262G>A ENST00000264463.4 - 5 1280 c.773C>T c.(772-774)aCg>aTg p.T258M NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 258 Cadherin 2. 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) ATCTGTCAGCGTGATGTTCAC 0.483000 HNSCC(23;0.051) 17 306 0 0 1 0 0 ERBB4 2066 broad.mit.edu 37 2 212589903 212589903 + Silent SNP A A G TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr2:212589903A>G ENST00000342788.4 - 6 949 c.639T>C c.(637-639)tgT>tgC p.C213C ERBB4_ENST00000402597.1_Silent_p.C213C|ERBB4_ENST00000436443.1_Silent_p.C213C|ERBB4_ENST00000484474.1_5'UTR NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 213 Cys-rich. cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) ATTGTTCTGCACACACCGTCC 0.507000 TSP Lung(8;0.080) 14 402 0 0 1 0 0 CTD-2139B15.2 0 broad.mit.edu 37 5 17354041 17354041 + RNA SNP T T C rs7715898 by1000genomes TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr5:17354041T>C ENST00000511821.1 + 0 23 FTH1P10_ENST00000401830.3_RNA TCCGCCAAGCTAGATTCGGGT 0.488000 11 230 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661478 22661478 + RNA SNP T T G TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr22:22661478T>G ENST00000426066.1 + 0 368 NR_027293.1 CAGATGCGTCTGAAGAAACAT 0.488000 12 330 0 0 1 0 0 DDX4 54514 broad.mit.edu 37 5 55059848 55059848 + Nonsense_Mutation SNP C C G TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr5:55059848C>G ENST00000505374.1 + 6 382 c.290C>G c.(289-291)tCa>tGa p.S97* DDX4_ENST00000508580.1_3'UTR|DDX4_ENST00000353507.5_Nonsense_Mutation_p.S97*|SLC38A9_ENST00000504880.1_Intron|DDX4_ENST00000354991.5_Nonsense_Mutation_p.S97*|DDX4_ENST00000514278.2_Nonsense_Mutation_p.S97* NM_024415.2 NP_077726.1 Q9NQI0 DDX4_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 97 Gly-rich. multicellular organismal development|sperm motility perinuclear region of cytoplasm|pi-body|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2) 24 Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223) ATAGGTTTTTCAAACAGCAGG 0.318000 14 372 0 0 1 0 0 VCAN 1462 broad.mit.edu 37 5 82835841 82835841 + Missense_Mutation SNP G G A TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr5:82835841G>A ENST00000265077.3 + 8 7584 c.7019G>A c.(7018-7020)gGa>gAa p.G2340E VCAN_ENST00000343200.5_Missense_Mutation_p.G1353E|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 2340 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) AGTGACACTGGAGCAGAAGGA 0.468000 48 375 0 0 1 0 0 ATP8A1 10396 broad.mit.edu 37 4 42627669 42627669 + Missense_Mutation SNP C C T TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr4:42627669C>T ENST00000381668.5 - 3 457 c.226G>A c.(226-228)Gct>Act p.A76T ATP8A1_ENST00000510289.1_3'UTR|ATP8A1_ENST00000264449.10_Missense_Mutation_p.A76T NM_006095.2 NP_006086.1 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 76 ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Phosphatidylserine(DB00144) GAATTAGCAGCTCTTCTGAAC 0.353000 21 270 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593025 96593025 + Missense_Mutation SNP C C T rs75189823 by1000genomes TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr2:96593025C>T ENST00000456556.1 - 28 1960 c.1876G>A c.(1876-1878)Gat>Aat p.D626N ankyrin repeat domain 36C p.D626N(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TCTTTCTCATCACTTGTAGCC 0.318000 15 299 0 0 1 0 0 PAIP2B 400961 broad.mit.edu 37 2 71417026 71417026 + Silent SNP C C T TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr2:71417026C>T ENST00000244221.8 - 3 430 c.264G>A c.(262-264)caG>caA p.Q88Q NM_020459.1 NP_065192.1 Q9ULR5 PAI2B_HUMAN poly(A) binding protein interacting protein 2B 88 negative regulation of translational initiation protein binding|translation repressor activity, nucleic acid binding large_intestine(1)|lung(1) 2 CATTTAACTGCTGTTGCAACT 0.453000 4 41 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18845998 18845998 + RNA SNP G G A TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr22:18845998G>A ENST00000412938.1 + 0 3356 CCCGTCCTGCGCAGGCCGACA 0.607000 17 131 0 0 1 0 0 MAP2 4133 broad.mit.edu 37 2 210559008 210559008 + Missense_Mutation SNP C C T rs146432517 TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr2:210559008C>T ENST00000360351.4 + 7 2620 c.2114C>T c.(2113-2115)cCg>cTg p.P705L MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.P701L|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 705 P -> L (in a colorectal cancer sample; somatic mutation). central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity p.P705L(1) breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) ATCAATTTGCCGATGTCTTGC 0.438000 117 926 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18845990 18845990 + RNA SNP C C T TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr22:18845990C>T ENST00000412938.1 + 0 3348 ACCTCCATCCCGTCCTGCGCA 0.582000 14 119 0 0 1 0 0 OR10K1 391109 broad.mit.edu 37 1 158435756 158435756 + Silent SNP C C T TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr1:158435756C>T ENST00000289451.2 + 1 485 c.405C>T c.(403-405)ctC>ctT p.L135L NM_001004473.1 NP_001004473.1 Q8NGX5 O10K1_HUMAN olfactory receptor, family 10, subfamily K, member 1 135 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 27 all_hematologic(112;0.0378) ACTCAGTGCTCATGGGACATG 0.547000 96 752 0 0 1 0 0 MEGF6 1953 broad.mit.edu 37 1 3415047 3415047 + Silent SNP G G A TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr1:3415047G>A ENST00000356575.4 - 26 3466 c.3240C>T c.(3238-3240)gaC>gaT p.D1080D MEGF6_ENST00000294599.4_Silent_p.D889D NM_001409.3 NP_001400.3 O75095 MEGF6_HUMAN multiple EGF-like-domains 6 1080 extracellular region calcium ion binding cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105) all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213) CAGCTCTGACGTCCCGGGGGA 0.706000 4 40 0 0 1 0 0 ZSCAN1 284312 broad.mit.edu 37 19 58549468 58549468 + Silent SNP C C T TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr19:58549468C>T ENST00000282326.1 + 3 511 c.264C>T c.(262-264)ggC>ggT p.G88G ZSCAN1_ENST00000601162.1_Silent_p.G88G|ZSCAN1_ENST00000391700.1_Silent_p.G88G NM_182572.3 NP_872378.3 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 88 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) AGTTCCTGGGCGCGCTGCCCA 0.697000 9 115 0 0 1 0 0 CUL9 23113 broad.mit.edu 37 6 43155033 43155033 + Silent SNP G G A rs148427416 TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr6:43155033G>A ENST00000252050.4 + 6 1521 c.1437G>A c.(1435-1437)ccG>ccA p.P479P CUL9_ENST00000354495.3_Intron|CUL9_ENST00000372647.2_Silent_p.P479P NM_015089.2 NP_055904.1 Q8IWT3 CUL9_HUMAN cullin 9 479 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 ACCCTTTGCCGTACCTCCAGC 0.532000 41 684 0 0 1 0 0 RPL23AP53 0 broad.mit.edu 37 8 163387 163387 + RNA SNP C C T rs3008286 by1000genomes TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr8:163387C>T ENST00000606975.1 - 0 534 CACAGCCTGTCTGATCTGGTG 0.468000 11 109 0 0 1 0 0 TRUB1 142940 broad.mit.edu 37 10 116698112 116698112 + Missense_Mutation SNP A A C TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr10:116698112A>C ENST00000298746.3 + 1 161 c.100A>C c.(100-102)Acc>Ccc p.T34P NM_139169.4 NP_631908.1 Q8WWH5 TRUB1_HUMAN TruB pseudouridine (psi) synthase family member 1 34 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding p.T34P(1) breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2) 12 Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245) Epithelial(162;0.00879)|all cancers(201;0.0243) AATGGCTGCGACCCCGTCAGC 0.637000 11 78 0 0 1 0 0 OBSL1 23363 broad.mit.edu 37 2 220420834 220420834 + Missense_Mutation SNP C C T rs138086602 by1000genomes TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr2:220420834C>T ENST00000404537.1 - 14 4573 c.4517G>A c.(4516-4518)cGc>cAc p.R1506H OBSL1_ENST00000265317.5_Missense_Mutation_p.R405H|OBSL1_ENST00000603926.1_Missense_Mutation_p.R1506H|OBSL1_ENST00000373876.1_Missense_Mutation_p.R1414H|OBSL1_ENST00000265318.4_Missense_Mutation_p.A1373T NM_015311.2 NP_056126.1 O75147 OBSL1_HUMAN obscurin-like 1 1506 Ig-like 12. cardiac myofibril assembly intercalated disc|M band|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity p.R1506H(1) Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) GATGAAGAGGCGGTGGATGTG 0.697000 20 183 0 0 1 0 0 MYO3A 53904 broad.mit.edu 37 10 26243817 26243817 + Missense_Mutation SNP G G T TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr10:26243817G>T ENST00000265944.5 + 4 349 c.183G>T c.(181-183)gaG>gaT p.E61D MYO3A_ENST00000376301.1_Missense_Mutation_p.E61D|MYO3A_ENST00000376302.1_Missense_Mutation_p.E61D|MYO3A_ENST00000543632.1_Missense_Mutation_p.E61D NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 61 Protein kinase. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 TTGACGAAGAGATTGAAGCAG 0.323000 43 451 3.7052e-28 4.07205e-28 1 1 0 MT1JP 0 broad.mit.edu 37 16 56670226 56670226 + RNA SNP C C A rs4094215 by1000genomes TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr16:56670226C>A ENST00000564564.1 + 0 552 TTCCTCTGTCCTGAGTGGGAA 0.567000 6 81 0.217242 0.217242 1 1 0 CEP170B 283638 broad.mit.edu 37 14 105346747 105346747 + Missense_Mutation SNP C C T TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr14:105346747C>T ENST00000453495.1 + 6 685 c.457C>T c.(457-459)Cgg>Tgg p.R153W CEP170B_ENST00000556508.1_Missense_Mutation_p.R83W|CEP170B_ENST00000418279.1_Missense_Mutation_p.R83W|CEP170B_ENST00000414716.3_Missense_Mutation_p.R153W centrosomal protein 170B GAAGGGGGACCGGAGACCAGG 0.667000 16 100 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) 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) tgctgctgctactgctgctgc 0.532000 T MLL ALL 15 228 0 0 1 0 0 WASH3P 0 broad.mit.edu 37 15 102515299 102515299 + RNA SNP G G A TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr15:102515299G>A ENST00000557932.1 + 0 1145 p.G374S(10) central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 TGGGGGCATCGGCAAGGCCAA 0.652000 6 98 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918794 16918794 + Translation_Start_Site SNP G G A TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr1:16918794G>A ENST00000430580.2 - 0 712 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TGTGGCCAGCGTGCCAGGTAA 0.502000 7 69 0 0 1 0 0 FOXS1 2307 broad.mit.edu 37 20 30432695 30432695 + Silent SNP C C T TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr20:30432695C>T ENST00000375978.3 - 1 725 c.651G>A c.(649-651)gcG>gcA p.A217A NM_004118.3 NP_004109.1 O43638 FOXS1_HUMAN forkhead box S1 217 anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis transcription factor complex chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1) 9 GAAAGCCAAACGCTGGGCATG 0.617000 34 267 0 0 1 0 0 NLRP3 114548 broad.mit.edu 37 1 247592989 247592989 + Silent SNP G G A TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr1:247592989G>A ENST00000366497.2 + 5 3039 c.2259G>A c.(2257-2259)ctG>ctA p.L753L NLRP3_ENST00000366496.2_Silent_p.L753L|NLRP3_ENST00000391827.2_Intron|NLRP3_ENST00000348069.2_Intron|NLRP3_ENST00000336119.3_Silent_p.L753L|NLRP3_ENST00000391828.3_Silent_p.L753L NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 810 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) ACAATTCTCTGGGGGACCCAG 0.527000 22 385 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593000 96593000 + Missense_Mutation SNP A A G rs111976783 TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr2:96593000A>G ENST00000456556.1 - 28 1985 c.1901T>C c.(1900-1902)aTa>aCa p.I634T ankyrin repeat domain 36C p.I634T(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TTCTGTGGCTATATTTGAAAC 0.338000 15 299 0 0 1 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 19 263 0 0 1 0 0 GIF 2694 broad.mit.edu 37 11 59596985 59596985 + Missense_Mutation SNP T T C TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr11:59596985T>C ENST00000541311.1 - 9 1385 c.1151A>G c.(1150-1152)cAc>cGc p.H384R GIF_ENST00000257248.2_Missense_Mutation_p.H409R P27352 IF_HUMAN gastric intrinsic factor (vitamin B synthesis) 409 cobalamin metabolic process|cobalamin transport|cobalt ion transport apical plasma membrane|endosome|extracellular space|microvillus cobalamin binding large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 17 GGCTGTGATGTGCTCGTGGTT 0.443000 14 212 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102292820 102292820 + RNA SNP G G C TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr15:102292820G>C ENST00000561463.1 + 0 866 p.T136T(2) GCGTGGGAACGAGAAGACACT 0.592000 9 72 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) 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) tgctgctgctgctactgctgc 0.537000 T MLL ALL 10 240 0 0 1 0 0 TRMT1 55621 broad.mit.edu 37 19 13227177 13227177 + Missense_Mutation SNP G G A TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr19:13227177G>A ENST00000592062.1 - 3 607 c.37C>T c.(37-39)Cgc>Tgc p.R13C TRMT1_ENST00000437766.1_Missense_Mutation_p.R13C|TRMT1_ENST00000221504.8_Missense_Mutation_p.R13C|TRMT1_ENST00000592892.1_5'UTR|TRMT1_ENST00000357720.4_Missense_Mutation_p.R13C Q9NXH9 TRM1_HUMAN tRNA methyltransferase 1 homolog (S. cerevisiae) 13 RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(19;6.08e-22) GBM - Glioblastoma multiforme(1328;0.0356) CGGGCGGAGCGGAAAGTGAGG 0.657000 17 332 0 0 1 0 0 FLT3 2322 broad.mit.edu 37 13 28622533 28622533 + Missense_Mutation SNP C C T TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr13:28622533C>T ENST00000380982.4 - 9 1165 c.1084G>A c.(1084-1086)Gac>Aac p.D362N FLT3_ENST00000537084.1_Missense_Mutation_p.D362N|FLT3_ENST00000241453.7_Missense_Mutation_p.D362N P36888 FLT3_HUMAN fms-related tyrosine kinase 3 362 positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12390 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) TCATATTGGTCAATTTCATAA 0.323000 """Mis, O""" """AML, ALL""" 32 213 0 0 1 0 0 ATL1 51062 broad.mit.edu 37 14 51094836 51094836 + Nonsense_Mutation SNP C C T TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr14:51094836C>T ENST00000441560.2 + 13 1688 c.1207C>T c.(1207-1209)Cga>Tga p.R403* ATL1_ENST00000357032.3_Nonsense_Mutation_p.R403*|ATL1_ENST00000358385.6_Nonsense_Mutation_p.R403*|ATL1_ENST00000354525.4_Nonsense_Mutation_p.R403* NM_001127713.1 NP_001121185.1 Q8WXF7 ATLA1_HUMAN atlastin GTPase 1 403 axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome GTP binding|GTPase activity|identical protein binding central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3) 18 GAAGCTATTCCGAGGGGTGAA 0.443000 20 318 0 0 1 0 0 CCDC18 343099 broad.mit.edu 37 1 93672842 93672842 + Nonsense_Mutation SNP G G T TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr1:93672842G>T ENST00000343253.7 + 9 1598 c.1096G>T c.(1096-1098)Gaa>Taa p.E366* CCDC18_ENST00000557479.1_Nonsense_Mutation_p.E484*|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000338949.4_Nonsense_Mutation_p.E165*|CCDC18_ENST00000401026.3_Nonsense_Mutation_p.E366* Q5T9S5 CCD18_HUMAN coiled-coil domain containing 18 366 breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 42 all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967) TGAAAACCGAGAATTAAAGGT 0.333000 14 233 1.52009e-12 1.62241e-12 1 1 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr12:25398284C>T ENST00000311936.3 - 2 226 c.35G>A c.(34-36)gGt>gAt p.G12D KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_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) 15 107 0 0 1 0 0 ZNF75A 7627 broad.mit.edu 37 16 3367798 3367798 + Missense_Mutation SNP A A G TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr16:3367798A>G ENST00000574298.1 + 6 1293 c.820A>G c.(820-822)Act>Gct p.T274A ZNF75A_ENST00000498240.2_3'UTR NM_153028.2 NP_694573.1 Q96N20 ZN75A_HUMAN zinc finger protein 75a 274 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|large_intestine(3)|lung(7)|prostate(1) 12 GCAGCCATATACTTGTAGCAT 0.463000 27 493 0 0 1 0 0 MUC1 4582 broad.mit.edu 37 1 155160807 155160807 + Silent SNP G G A TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr1:155160807G>A ENST00000368395.1 - 3 791 c.720C>T c.(718-720)agC>agT p.S240S MUC1_ENST00000438413.1_Intron|MUC1_ENST00000457295.2_Intron|MUC1_ENST00000368390.3_Intron|MUC1_ENST00000343256.5_Intron|MUC1_ENST00000338684.5_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000368392.3_Intron|MUC1_ENST00000368393.3_Intron|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000368398.3_Intron|MUC1_ENST00000462215.1_5'UTR|MUC1_ENST00000337604.5_Intron|MUC1_ENST00000342482.4_Intron NM_001204285.1|NM_001204286.1 NP_001191214.1|NP_001191215.1 P15941 MUC1_HUMAN mucin 1, cell surface associated 1020 42 X 20 AA approximate tandem repeats of P-A-P-G-S-T-A-P-P-A-H-G-V-T-S-A-P-D-T-R. apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus protein binding breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2) 10 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) GAGGTACCGTGCTATGGTGAG 0.507000 T IGH@ B-NHL 34 236 0 0 1 0 0 PABPC3 5042 broad.mit.edu 37 13 25671664 25671664 + Missense_Mutation SNP A A C TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr13:25671664A>C ENST00000281589.3 + 1 1365 c.1328A>C c.(1327-1329)aAt>aCt p.N443T NM_030979.2 NP_112241.2 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 443 mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) CCATTCCAAAATAAGCCCAGT 0.507000 47 685 0 0 1 0 0 CABP5 56344 broad.mit.edu 37 19 48537514 48537514 + Missense_Mutation SNP G G A TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr19:48537514G>A ENST00000293255.2 - 5 584 c.454C>T c.(454-456)Cgg>Tgg p.R152W NM_019855.4 NP_062829.1 Q9NP86 CABP5_HUMAN calcium binding protein 5 152 EF-hand 4. signal transduction cytoplasm calcium ion binding endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2) 11 all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058) TCAGCCTCCCGGACAACCTCA 0.617000 24 211 0 0 1 0 0 SLCO6A1 133482 broad.mit.edu 37 5 101834438 101834438 + Silent SNP T T G TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr5:101834438T>G ENST00000506729.1 - 1 282 c.111A>C c.(109-111)ggA>ggC p.G37G SLCO6A1_ENST00000513675.1_Silent_p.G37G|SLCO6A1_ENST00000389019.3_Silent_p.G37G|SLCO6A1_ENST00000379807.3_Silent_p.G37G|SLCO6A1_ENST00000379810.1_Silent_p.G37G Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, member 6A1 37 integral to membrane|plasma membrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) ACTTCGGGGTTCCCTTGGCCC 0.602000 124 1007 0 0 1 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20903757 20903757 + Silent SNP T T C rs10841611 by1000genomes TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr12:20903757T>C ENST00000381552.1 + 14 2315 c.1947T>C c.(1945-1947)caT>caC p.H649H SLCO1C1_ENST00000540354.1_Intron|SLCO1C1_ENST00000266509.2_Intron|SLCO1C1_ENST00000545102.1_Silent_p.H531H|SLCO1C1_ENST00000545604.1_Silent_p.H649H Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, member 1C1 0 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity p.H649H(1) NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 60 Esophageal squamous(101;0.149) CCGCATCTCATTGCTACAGCA 0.378000 17 311 0 0 1 0 0 CTD-2139B15.2 0 broad.mit.edu 37 5 17354037 17354037 + RNA SNP A A G rs7733712 by1000genomes TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr5:17354037A>G ENST00000511821.1 + 0 19 FTH1P10_ENST00000401830.3_RNA ATATTCCGCCAAGCTAGATTC 0.493000 11 232 0 0 1 0 0 BIVM-ERCC5 0 broad.mit.edu 37 13 103514870 103514870 + Missense_Mutation SNP C C T rs149867583 by1000genomes TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr13:103514870C>T ENST00000602836.1 + 16 2647 c.2647C>T c.(2647-2649)Cgt>Tgt p.R883C ERCC5_ENST00000355739.4_Silent_p.H457H NM_001204425.1 NP_001191354.1 Q59FZ7 Q59FZ7_HUMAN 0 nucleotide-excision repair nucleus endonuclease activity|single-stranded DNA binding CAGAGGAGCACGTAGCCAGCA 0.478000 19 270 0 0 1 0 0 ANKRD36BP2 0 broad.mit.edu 37 2 89084114 89084114 + RNA SNP G G A TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr2:89084114G>A ENST00000393525.3 + 0 576 TTGCTTTTCAGTGTCTTCTCA 0.313000 10 283 0 0 1 0 0 CSK 1445 broad.mit.edu 37 15 75091650 75091650 + Missense_Mutation SNP C C T TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr15:75091650C>T ENST00000220003.9 + 5 1009 c.280C>T c.(280-282)Cgg>Tgg p.R94W CSK_ENST00000567571.1_Missense_Mutation_p.R94W|CSK_ENST00000439220.2_Missense_Mutation_p.R94W|CSK_ENST00000309470.9_Missense_Mutation_p.R94W NM_004383.2 NP_004374.1 P41240 CSK_HUMAN c-src tyrosine kinase 94 SH2. blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway centrosome|cytosol|Golgi apparatus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding central_nervous_system(1)|lung(2) 3 GCAGGCTGAGCGGCTTCTGTA 0.637000 15 236 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78211164 78211164 + RNA SNP G G A rs56350880 by1000genomes TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr15:78211164G>A ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA TGTGGTTCTGGAAGAGCACGA 0.592000 25 566 0 0 1 0 0 MED1 5469 broad.mit.edu 37 17 37565585 37565585 + Missense_Mutation SNP T T G TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr17:37565585T>G ENST00000300651.6 - 17 3112 c.2889A>C c.(2887-2889)ttA>ttC p.L963F MED1_ENST00000394287.3_Intron NM_004774.3 NP_004765.2 Q15648 MED1_HUMAN mediator complex subunit 1 963 Interaction with ESR1. androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1) 59 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) TTTCTTTCCCTAAGTCCCCAG 0.483000 HNSCC(31;0.082) 11 215 0 0 1 0 0 CHST11 50515 broad.mit.edu 37 12 105150940 105150940 + Missense_Mutation SNP G G A TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr12:105150940G>A ENST00000303694.5 + 3 857 c.418G>A c.(418-420)Ggg>Agg p.G140R CHST11_ENST00000549260.1_Missense_Mutation_p.G135R NM_018413.5 NP_060883.1 Q9NPF2 CHSTB_HUMAN carbohydrate (chondroitin 4) sulfotransferase 11 140 chondroitin sulfate biosynthetic process Golgi membrane|integral to membrane chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1) 18 GGTCCTGACCGGGCGGGGGAA 0.597000 20 311 0 0 1 0 0 SLCO4C1 353189 broad.mit.edu 37 5 101576431 101576431 + Nonsense_Mutation SNP G G A TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr5:101576431G>A ENST00000310954.6 - 11 2153 c.1867C>T c.(1867-1869)Cga>Tga p.R623* NM_180991.4 NP_851322.3 Q6ZQN7 SO4C1_HUMAN solute carrier organic anion transporter family, member 4C1 623 cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 50 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) CCTAATAATCGAAGGACCATA 0.323000 83 587 0 0 1 0 0 AJAP1 55966 broad.mit.edu 37 1 4772583 4772585 + In_Frame_Del DEL CCA CCA - rs141981296 byFrequency TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 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 10 157 --- --- --- --- ZBTB40 9923 broad.mit.edu 37 1 22838561 22838563 + In_Frame_Del DEL AAG AAG - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr1:22838561_22838563delAAG ENST00000404138.1 + 12 2906_2908 c.2395_2397delAAG c.(2395-2397)del p.K803del ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del|ZBTB40_ENST00000375647.4_In_Frame_Del_p.K803del NM_001083621.1 NP_001077090.1 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 803 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) CGATGCCCCCAAGAAGAAGAAGA 0.517 13 405 --- --- --- --- C1orf94 84970 broad.mit.edu 37 1 34666398 34666398 + Frame_Shift_Del DEL A A - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr1:34666398delA ENST00000488417.1 + 3 1155 c.1035delA c.(1033-1035)ccfs p.P345fs C1orf94_ENST00000373374.3_Frame_Shift_Del_p.P155fs NM_001134734.1 NP_001128206.1 Q6P1W5 CA094_HUMAN chromosome 1 open reading frame 94 155 protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2) 32 Myeloproliferative disorder(586;0.0393) CCAAGGAGCCAAAAAAGGGTC 0.572 9 489 --- --- --- --- PTPRF 5792 broad.mit.edu 37 1 44071946 44071948 + In_Frame_Del DEL GCG GCG - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr1:44071946_44071948delGCG ENST00000359947.4 + 20 3859_3861 c.3519_3521delGCG c.(3517-3522)cag>ca p.QR1173del PTPRF_ENST00000372413.3_In_Frame_Del_p.QR1164del|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000438120.1_In_Frame_Del_p.QR1164del|PTPRF_ENST00000372414.3_In_Frame_Del_p.QR1173del|PTPRF_ENST00000422171.2_In_Frame_Del_p.QR521del NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1173 transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GAGAGGAGCAGCGGCGGCGGCGG 0.631 10 643 --- --- --- --- CYP4Z2P 0 broad.mit.edu 37 1 47325313 47325315 + RNA DEL GTT GTT - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr1:47325313_47325315delGTT ENST00000505841.1 - 0 1204 NR_002788.2 AAAAAAAAAAGTTGTTTTAAGAC 0.409 12 333 --- --- --- --- SYCP1 6847 broad.mit.edu 37 1 115537600 115537601 + Frame_Shift_Ins INS - - A TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr1:115537600_115537601insA ENST00000369522.3 + 32 3131_3132 c.2891_2892insA c.(2890-2892)aaafs p.K964fs SYCP1_ENST00000369518.1_Frame_Shift_Ins_p.K964fs|SYCP1_ENST00000477590.1_3'UTR NM_003176.2 NP_003167.2 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 964 Arg/Lys-rich (basic). cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) AAAATGGATAGAAAAAAAAAAC 0.356 7 273 --- --- --- --- BCL9 607 broad.mit.edu 37 1 147091501 147091501 + Frame_Shift_Del DEL C C - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr1:147091501delC ENST00000234739.3 + 8 2280 c.1540delC c.(1540-1542)ccfs p.P517fs NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 517 Poly-Pro.|Pro-rich. Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) GGTCCGAGGACCCCCCCCTCC 0.582 T """IGH@, IGL@""" B-ALL 15 818 --- --- --- --- HAX1 10456 broad.mit.edu 37 1 154245864 154245866 + In_Frame_Del DEL GAA GAA - rs11556342 TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr1:154245864_154245866delGAA ENST00000328703.7 + 2 319_321 c.106_108delGAA c.(106-108)del p.E40del HAX1_ENST00000457918.2_Intron|HAX1_ENST00000532105.1_Intron|HAX1_ENST00000483970.2_In_Frame_Del_p.E40del NM_006118.3 NP_006109.2 O00165 HAX1_HUMAN HCLS1 associated protein X-1 40 Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity). actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction interleukin-1 binding|protein N-terminus binding cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 15 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TGATGATGAGGAAGAAGAAGAAG 0.522 Kostmann syndrome 14 425 --- --- --- --- KCNN3 3782 broad.mit.edu 37 1 154680586 154680588 + In_Frame_Del DEL GCT GCT - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr1:154680586_154680588delGCT ENST00000271915.3 - 8 2375_2377 c.2060_2062delAGC c.(2059-2064)ctc>c p.QL687del KCNN3_ENST00000361147.4_In_Frame_Del_p.QL382del|KCNN3_ENST00000358505.2_In_Frame_Del_p.QL374del|KCNN3_ENST00000515643.1_5'UTR NM_002249.5 NP_002240.3 Q9UGI6 KCNN3_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 692 integral to membrane calmodulin binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) GCAGACAGGAGCTGCTGCTGCTG 0.640 14 760 --- --- --- --- CCT3 7203 broad.mit.edu 37 1 156281851 156281852 + Frame_Shift_Ins INS - - C TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr1:156281851_156281852insC ENST00000295688.3 - 11 1415_1416 c.1135_1136insG c.(1135-1137)tagfs p.*379fs CCT3_ENST00000368259.2_Frame_Shift_Ins_p.*341fs|CCT3_ENST00000368261.3_Frame_Shift_Ins_p.*334fs|CCT3_ENST00000472765.2_Frame_Shift_Ins_p.*334fs NM_005998.4 NP_005989.3 P49368 TCPG_HUMAN chaperonin containing TCP1, subunit 3 (gamma) 379 'de novo' posttranslational protein folding cytoskeleton|cytosol|plasma membrane ATP binding|unfolded protein binding endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 22 Hepatocellular(266;0.158) CTCTTTGCTAGCCCCCCGGAGG 0.460 48 524 --- --- --- --- NOS1AP 9722 broad.mit.edu 37 1 162326888 162326890 + In_Frame_Del DEL CAG CAG - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr1:162326888_162326890delCAG ENST00000361897.5 + 8 1303_1305 c.901_903delCAG c.(901-903)del p.Q306del NOS1AP_ENST00000530878.1_In_Frame_Del_p.Q301del NM_001164757.1|NM_014697.2 NP_001158229.1|NP_055512.1 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor protein 306 Poly-Gln. regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 32 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) gcagctcctccagcagcAGCAGC 0.611 10 392 --- --- --- --- MTR 4548 broad.mit.edu 37 1 237024474 237024474 + Frame_Shift_Del DEL A A - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr1:237024474delA ENST00000366577.5 + 20 2487 c.2093delA c.(2092-2094)cafs p.Q698fs MTR_ENST00000535889.1_Intron NM_000254.2 NP_000245.2 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase 698 B12-binding N-terminal. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 67 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) AGGTTAAACCAAAAAAAATAT 0.308 7 379 --- --- --- --- FMN2 56776 broad.mit.edu 37 1 240371335 240371337 + In_Frame_Del DEL CCC CCC - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr1:240371335_240371337delCCC ENST00000319653.9 + 5 3453_3455 c.3223_3225delCCC c.(3223-3225)del p.P1079del NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1079 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) AGCGGGCATACCCCCTCCGCCCC 0.729 8 60 --- --- --- --- OR2T2 401992 broad.mit.edu 37 1 248616705 248616711 + Frame_Shift_Del DEL TGCTGCG TGCTGCG - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr1:248616705_248616711delTGCTGCG ENST00000342927.3 + 1 629_635 c.607_613delTGCTGCG c.(607-615)tgfs p.CCV203fs NM_001004136.1 NP_001004136.1 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, member 2 203 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 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) GATGTATGCCTGCTGCGTGCTGATGCT 0.527 7 368 --- --- --- --- ATP6V1C2 245973 broad.mit.edu 37 2 10917819 10917820 + Frame_Shift_Del DEL AG AG - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr2:10917819_10917820delAG ENST00000272238.4 + 11 1043_1044 c.934_935delAG c.(934-936)afs p.R312fs ATP6V1C2_ENST00000381661.3_Intron NM_001039362.1 NP_001034451.1 Q8NEY4 VATC2_HUMAN ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 312 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|proton-transporting V-type ATPase, V1 domain endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152) GCAGACCGACAGAGAGAGAGAG 0.604 9 516 --- --- --- --- ASXL2 55252 broad.mit.edu 37 2 26022304 26022306 + In_Frame_Del DEL CTG CTG - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr2:26022304_26022306delCTG ENST00000435504.4 - 5 644_646 c.351_353delCAG c.(349-354)agt>ag p.SS117del ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000336112.4_In_Frame_Del_p.SS89del|ASXL2_ENST00000272341.4_5'UTR Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 117 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCCACCATCACTGCTGCTGCTGC 0.463 7 814 --- --- --- --- NLRC4 58484 broad.mit.edu 37 2 32475056 32475056 + Frame_Shift_Del DEL T T - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr2:32475056delT ENST00000404025.2 - 5 2365 c.1877delA c.(1876-1878)agfs p.K626fs NLRC4_ENST00000360906.5_Frame_Shift_Del_p.K626fs|NLRC4_ENST00000402280.1_Frame_Shift_Del_p.K626fs|NLRC4_ENST00000342905.6_Intron Q9NPP4 NLRC4_HUMAN NLR family, CARD domain containing 4 626 activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) TTCTGCAGCCTTTTCCCATGA 0.458 7 1164 --- --- --- --- CEBPZ 10153 broad.mit.edu 37 2 37454908 37454908 + Frame_Shift_Del DEL T T - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr2:37454908delT ENST00000234170.5 - 2 1573 c.1428delA c.(1426-1428)aafs p.K476fs NM_005760.2 NP_005751.2 Q03701 CEBPZ_HUMAN CCAAT/enhancer binding protein (C/EBP), zeta 476 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 all_hematologic(82;0.21) ATTCAACATCTTTTTTTTTGA 0.368 13 259 --- --- --- --- EIF2AK3 9451 broad.mit.edu 37 2 88874269 88874270 + Frame_Shift_Del DEL CT CT - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr2:88874269_88874270delCT ENST00000303236.3 - 13 3032_3033 c.2731_2732delAG c.(2731-2733)gfs p.R911fs EIF2AK3_ENST00000419748.1_Frame_Shift_Del_p.R760fs|EIF2AK3_ENST00000470706.1_5'UTR|AC104134.2_ENST00000413234.1_RNA NM_004836.5 NP_004827.4 Q9NZJ5 E2AK3_HUMAN eukaryotic translation initiation factor 2-alpha kinase 3 911 Protein kinase. activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization endoplasmic reticulum membrane|integral to membrane ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding ovary(3) 3 ACACACGCTCCTCTCTCTCTCC 0.465 7 604 --- --- --- --- AC027612.3 0 broad.mit.edu 37 2 91887905 91887906 + RNA INS - - T TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr2:91887905_91887906insT ENST00000436174.1 - 0 540 GCTATTTTCCATTTTTTTTTTT 0.292 15 187 --- --- --- --- TMEM127 55654 broad.mit.edu 37 2 96919781 96919783 + In_Frame_Del DEL TGC TGC - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr2:96919781_96919783delTGC ENST00000258439.2 - 4 736_738 c.480_482delGCA c.(478-483)cat>ca p.QH160del TMEM127_ENST00000432959.1_In_Frame_Del_p.QH160del|TMEM127_ENST00000435268.1_In_Frame_Del_p.QH76del NM_001193304.2|NM_017849.3 NP_001180233.1|NP_060319.1 O75204 TM127_HUMAN transmembrane protein 127 160 negative regulation of cell proliferation|negative regulation of TOR signaling cascade cytoplasm|integral to membrane|plasma membrane endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1) 5 GTACTTCTTATGCTGCTGCTGCT 0.557 7 623 --- --- --- --- RGPD3 653489 broad.mit.edu 37 2 107041534 107041534 + Frame_Shift_Del DEL A A - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr2:107041534delA ENST00000409886.3 - 20 2976 c.2889delT c.(2887-2889)ttfs p.F963fs RGPD3_ENST00000304514.7_Frame_Shift_Del_p.F963fs NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 963 intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TTGTTTGGCCAAAAATCACAC 0.398 9 1998 --- --- --- --- PTPN18 26469 broad.mit.edu 37 2 131129929 131129934 + In_Frame_Del DEL GACGGG GACGGG - rs112040677 TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr2:131129929_131129934delGACGGG ENST00000175756.5 + 13 1214_1219 c.1113_1118delGACGGG c.(1111-1119)cag>ca p.QTG371del PTPN18_ENST00000347849.3_In_Frame_Del_p.QTG264del NM_014369.3 NP_055184.2 Q99952 PTN18_HUMAN protein tyrosine phosphatase, non-receptor type 18 (brain-derived) 371 cytoplasm|nucleus non-membrane spanning protein tyrosine phosphatase activity p.T378_G379delTG(1) endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1) 15 Colorectal(110;0.1) gtgggacgcagacggggacggggacg 0.777 7 17 --- --- --- --- AC018890.6 0 broad.mit.edu 37 2 175585079 175585079 + RNA DEL A A - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr2:175585079delA ENST00000442996.1 + 0 217 TTTCATTCTCAAAAAAAAAAA 0.368 OREG0015078 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 22 --- --- --- --- CYP20A1 57404 broad.mit.edu 37 2 204150380 204150380 + Frame_Shift_Del DEL A A - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr2:204150380delA ENST00000356079.4 + 9 1019 c.896delA c.(895-897)cafs p.Q299fs CYP20A1_ENST00000461371.1_3'UTR|CYP20A1_ENST00000429815.2_Frame_Shift_Del_p.Q307fs NM_177538.2 NP_803882.1 Q6UW02 CP20A_HUMAN cytochrome P450, family 20, subfamily A, polypeptide 1 299 integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 11 GAAGAAGTTCAAAAAAAATTA 0.348 7 406 --- --- --- --- SP140 11262 broad.mit.edu 37 2 231159025 231159025 + Frame_Shift_Del DEL A A - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr2:231159025delA ENST00000392045.3 + 21 2122 c.2008delA c.(2008-2010)aafs p.K672fs SP140_ENST00000350136.5_Frame_Shift_Del_p.K541fs|SP140_ENST00000417495.3_Frame_Shift_Del_p.K558fs|SP140_ENST00000486687.2_Frame_Shift_Del_p.K596fs|SP140_ENST00000420434.3_Frame_Shift_Del_p.K645fs|SP140_ENST00000343805.6_Frame_Shift_Del_p.K612fs NM_007237.4 NP_009168.4 Q13342 LY10_HUMAN SP140 nuclear body protein 672 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.K672fs*4(1) NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) ACGTTACAGGAAAAAAAAGGT 0.373 9 217 --- --- --- --- UGT1A8 0 broad.mit.edu 37 2 234526711 234526711 + Frame_Shift_Del DEL T T - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 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 8 831 --- --- --- --- SATB1 6304 broad.mit.edu 37 3 18391133 18391135 + In_Frame_Del DEL CTG CTG - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr3:18391133_18391135delCTG ENST00000338745.6 - 11 3553_3555 c.1819_1821delCAG c.(1819-1821)del p.Q607del SATB1_ENST00000454909.2_In_Frame_Del_p.Q607del|SATB1_ENST00000417717.2_In_Frame_Del_p.Q639del|TBC1D5_ENST00000414318.2_Intron NM_002971.4 NP_002962.1 Q01826 SATB1_HUMAN SATB homeobox 1 607 Poly-Gln. cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter nuclear matrix|PML body double-stranded DNA binding|sequence-specific DNA binding NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 32 GCGGCGGTGCctgctgctgctgc 0.606 7 97 --- --- --- --- QRICH1 54870 broad.mit.edu 37 3 49094314 49094316 + In_Frame_Del DEL TGC TGC - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr3:49094314_49094316delTGC ENST00000395443.2 - 3 1789_1791 c.1317_1319delGCA c.(1315-1320)caa>ca p.QQ439del QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000357496.2_In_Frame_Del_p.QQ439del|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 9 431 --- --- --- --- PRKCD 5580 broad.mit.edu 37 3 53220653 53220653 + Frame_Shift_Del DEL G G - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr3:53220653delG ENST00000394729.2 + 13 1622 c.1294delG c.(1294-1296)ggfs p.G433fs PRKCD_ENST00000330452.3_Frame_Shift_Del_p.G433fs NM_212539.1 NP_997704.1 Q05655 KPCD_HUMAN protein kinase C, delta 433 Protein kinase. activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction cytosol|endoplasmic reticulum|nucleoplasm ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Ovarian(412;0.0728) OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173) GTTCCTCAACGGGGGGGACCT 0.602 10 1808 --- --- --- --- CACNA1D 776 broad.mit.edu 37 3 53529193 53529195 + Translation_Start_Site DEL GAT GAT - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr3:53529193_53529195delGAT ENST00000288139.3 + 0 118_120 CACNA1D_ENST00000350061.5_Start_Codon_Del|CACNA1D_ENST00000422281.2_Start_Codon_Del NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) aatgttcgtGgatgatgatgatg 0.581 13 524 --- --- --- --- MAGI1 9223 broad.mit.edu 37 3 65372850 65372851 + Frame_Shift_Del DEL TC TC - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr3:65372850_65372851delTC ENST00000330909.8 - 15 2466_2467 c.2467_2468delGA c.(2467-2469)afs p.E823fs MAGI1_ENST00000402939.2_Intron|MAGI1_ENST00000497477.2_Intron|MAGI1_ENST00000483466.1_Frame_Shift_Del_p.E823fs NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 823 PDZ 4. cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) GGAATTGATTTCTCTCTCTCTC 0.401 16 291 --- --- --- --- RP11-325B23.2 0 broad.mit.edu 37 3 98031434 98031434 + RNA DEL A A - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr3:98031434delA ENST00000508616.1 + 0 149 OR5H8P_ENST00000394191.2_RNA TTACAATCTTAAAAAAAAAAG 0.333 8 136 --- --- --- --- LNP1 348801 broad.mit.edu 37 3 100148586 100148588 + In_Frame_Del DEL GAT GAT - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr3:100148586_100148588delGAT ENST00000383693.3 + 2 1293_1295 c.13_15delGAT c.(13-15)del p.D10del LNP1_ENST00000489752.1_In_Frame_Del_p.D10del NM_001085451.1 NP_001078920.1 A1A4G5 LNP1_HUMAN leukemia NUP98 fusion partner 1 10 Poly-Asp. cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 6 GGAGCACAAAGATGATGATGATG 0.507 11 1167 --- --- --- --- MUC20 200958 broad.mit.edu 37 3 195447912 195447914 + In_Frame_Del DEL TTC TTC - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr3:195447912_195447914delTTC ENST00000320736.6 + 1 160_162 c.34_36delTTC c.(34-36)del p.F14del MUC20_ENST00000447234.2_In_Frame_Del_p.F14del|MUC20_ENST00000436408.1_In_Frame_Del_p.F14del|MUC20_ENST00000485430.1_3'UTR NM_001098516.1|NM_152673.2 NP_001091986.1|NP_689886.2 Q8N307 MUC20_HUMAN mucin 20, cell surface associated 14 protein homooligomerization apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1) 23 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Lung NSC(153;0.191) Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;1.66e-05) TCTGCCCCTTTTCTTCTTCTGCT 0.611 21 26 --- --- --- --- FGFRL1 53834 broad.mit.edu 37 4 1019055 1019056 + Frame_Shift_Del DEL CA CA - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr4:1019055_1019056delCA ENST00000398484.2 + 8 2015_2016 c.1435_1436delCA c.(1435-1437)cfs p.H479fs FGFRL1_ENST00000504138.1_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000510644.1_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000264748.6_Frame_Shift_Del_p.H479fs Q8N441 FGRL1_HUMAN fibroblast growth factor receptor-like 1 479 His-rich. regulation of cell growth integral to membrane|plasma membrane fibroblast growth factor receptor activity|heparin binding endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 13 OV - Ovarian serous cystadenocarcinoma(23;0.0158) cacagacatccacacacacaca 0.584 13 77 --- --- --- --- LIMCH1 22998 broad.mit.edu 37 4 41648508 41648509 + Frame_Shift_Del DEL GA GA - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr4:41648508_41648509delGA ENST00000313860.7 + 12 1317_1318 c.1263_1264delGA c.(1261-1266)cggafs p.RR421fs LIMCH1_ENST00000381753.4_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000396595.3_Frame_Shift_Del_p.RR267fs|LIMCH1_ENST00000511496.1_Frame_Shift_Del_p.RR262fs|LIMCH1_ENST00000512946.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000512820.1_Frame_Shift_Del_p.RR409fs|LIMCH1_ENST00000508501.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000503057.1_Frame_Shift_Del_p.RR806fs|LIMCH1_ENST00000512632.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000509277.1_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000513024.1_Frame_Shift_Del_p.RR250fs|LIMCH1_ENST00000514096.1_Frame_Shift_Del_p.RR262fs NM_014988.2 NP_055803.2 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 421 actomyosin structure organization actin binding|zinc ion binding p.E810fs*3(1)|p.E425fs*3(1) central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5) 41 TTAGAGAGCGGAGAGAGAGAGA 0.465 9 629 --- --- --- --- INTU 27152 broad.mit.edu 37 4 128564917 128564917 + Frame_Shift_Del DEL A A - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr4:128564917delA ENST00000335251.5 + 2 491 c.388delA c.(388-390)aafs p.K131fs INTU_ENST00000296461.5_Frame_Shift_Del_p.K131fs NM_015693.3 NP_056508.2 Q9ULD6 PDZD6_HUMAN inturned planar cell polarity protein 131 breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 43 GCGCTGCAATAAAAAAAATAG 0.358 7 432 --- --- --- --- PDZD2 23037 broad.mit.edu 37 5 32090059 32090061 + In_Frame_Del DEL TCC TCC - rs61744453 by1000genomes TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr5:32090059_32090061delTCC ENST00000438447.1 + 20 6893_6895 c.6505_6507delTCC c.(6505-6507)del p.S2173del PDZD2_ENST00000282493.3_In_Frame_Del_p.S2173del O15018 PDZD2_HUMAN PDZ domain containing 2 2173 Ser-rich. cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 AAAACTGGCGTCCTCCTCCTCCT 0.527 11 796 --- --- --- --- IK 3550 broad.mit.edu 37 5 140032593 140032594 + Frame_Shift_Del DEL GA GA - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 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 8 248 --- --- --- --- RBM27 54439 broad.mit.edu 37 5 145647319 145647320 + Frame_Shift_Ins INS - - A TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr5:145647319_145647320insA ENST00000265271.5 + 15 2605_2606 c.2439_2440insA c.(2437-2442)ctaaaafs p.LK813fs RBM27_ENST00000506502.1_Frame_Shift_Ins_p.LK758fs NM_018989.1 NP_061862.1 Q9P2N5 RBM27_HUMAN RNA binding motif protein 27 813 mRNA processing cytoplasm|nuclear speck nucleotide binding|RNA binding|zinc ion binding p.K816fs*5(1) NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AAGAAGTGCTTAAAAAAAAACA 0.351 15 329 --- --- --- --- CTC-338M12.9 0 broad.mit.edu 37 5 180708697 180708698 + RNA INS - - A rs1815381 TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr5:180708697_180708698insA ENST00000412295.2 + 0 238 ggggcggtaggcgggggctgga 0.718 13 59 --- --- --- --- HIST1H4E 8367 broad.mit.edu 37 6 26204947 26204948 + Frame_Shift_Ins INS - - A TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr6:26204947_26204948insA ENST00000360441.4 + 1 90_91 c.75_76insA c.(73-78)gaacatfs p.H26fs NM_003545.3 NP_003536.1 P62805 H4_HUMAN histone cluster 1, H4e 26 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2) 18 all_hematologic(11;0.196) TCCTGCGAGATAACATCCAGGG 0.584 29 470 --- --- --- --- NKAPL 222698 broad.mit.edu 37 6 28227796 28227797 + Frame_Shift_Ins INS - - T TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr6:28227796_28227797insT ENST00000343684.3 + 1 699_700 c.647_648insT c.(646-648)tgafs p.*216fs NM_001007531.1 NP_001007532.1 Q5M9Q1 NKAPL_HUMAN NFKB activating protein-like 216 Lys-rich. breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 AATTCTGACTCTGATGATGATA 0.302 28 295 --- --- --- --- MAS1L 116511 broad.mit.edu 37 6 29455156 29455157 + Frame_Shift_Del DEL AC AC - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr6:29455156_29455157delAC ENST00000377127.3 - 1 581_582 c.523_524delGT c.(523-525)cfs p.V175fs NM_052967.1 NP_443199.1 P35410 MAS1L_HUMAN MAS1 oncogene-like 175 cytoplasm|integral to membrane|nucleus|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2) 28 GGGGAAGAGGACACACACACAC 0.495 11 371 --- --- --- --- CYP21A1P 0 broad.mit.edu 37 6 31975223 31975224 + RNA INS - - T TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 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 10 819 --- --- --- --- FYN 2534 broad.mit.edu 37 6 111983042 111983042 + Frame_Shift_Del DEL T T - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr6:111983042delT ENST00000354650.3 - 14 2120 c.1514delA c.(1513-1515)agfs p.K505fs FYN_ENST00000368678.4_Frame_Shift_Del_p.K502fs|FYN_ENST00000368667.2_Frame_Shift_Del_p.K505fs|FYN_ENST00000356013.2_Frame_Shift_Del_p.K450fs|FYN_ENST00000229471.4_Frame_Shift_Del_p.K450fs|FYN_ENST00000368682.3_Frame_Shift_Del_p.K502fs|FYN_ENST00000229470.5_Frame_Shift_Del_p.K453fs|FYN_ENST00000538466.1_Frame_Shift_Del_p.K502fs 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 7 1167 --- --- --- --- OGDH 4967 broad.mit.edu 37 7 44684936 44684936 + Frame_Shift_Del DEL T T - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr7:44684936delT ENST00000222673.5 + 3 275 c.233delT c.(232-234)atfs p.I78fs OGDH_ENST00000439616.2_Intron|OGDH_ENST00000543843.1_Frame_Shift_Del_p.I18fs|OGDH_ENST00000449767.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000447398.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000444676.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000443864.2_Frame_Shift_Del_p.I78fs NM_002541.3 NP_002532.2 Q02218 ODO1_HUMAN oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) 78 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding p.R81fs*19(1) breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 36 NADH(DB00157) TCATGGGACATTTTTTTTCGC 0.577 14 842 --- --- --- --- PCLO 27445 broad.mit.edu 37 7 82595385 82595385 + Frame_Shift_Del DEL T T - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr7:82595385delT ENST00000423517.2 - 4 4056 c.3719delA c.(3718-3720)agfs p.K1240fs PCLO_ENST00000333891.8_Frame_Shift_Del_p.K1240fs NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1179 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 AGGGGTTGGCTTTTTTTCTTC 0.383 9 1725 --- --- --- --- KRIT1 889 broad.mit.edu 37 7 91870425 91870426 + Frame_Shift_Ins INS - - T TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr7:91870425_91870426insT ENST00000394507.1 - 6 926_927 c.143_144insA c.(142-144)aagfs p.K48fs KRIT1_ENST00000394503.2_Frame_Shift_Ins_p.K48fs|KRIT1_ENST00000394505.2_Frame_Shift_Ins_p.K48fs|KRIT1_ENST00000412043.2_Frame_Shift_Ins_p.K48fs|KRIT1_ENST00000340022.2_Frame_Shift_Ins_p.K48fs NM_194456.1 NP_919438.1 O00522 KRIT1_HUMAN KRIT1, ankyrin repeat containing 48 angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction cell-cell junction|cytoskeleton protein binding|small GTPase regulator activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1) 22 all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) CTTTCTTTCTCTTTTTTTTCTG 0.337 7 208 --- --- --- --- TMEM229A 730130 broad.mit.edu 37 7 123672480 123672485 + In_Frame_Del DEL TGCTGT TGCTGT - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr7:123672480_123672485delTGCTGT ENST00000455783.1 - 1 1038_1043 c.573_578delACAGCA c.(571-579)cag>ca p.QQQ197del RP5-921G16.1_ENST00000484322.1_RNA NM_001136002.1 NP_001129474.1 B2RXF0 T229A_HUMAN transmembrane protein 229A 197 host cell nucleus|integral to membrane sequence-specific DNA binding transcription factor activity endometrium(3)|kidney(3) 6 ctgctgctgctgctgttgctgctgcc 0.728 4 6 --- --- --- --- RBM28 55131 broad.mit.edu 37 7 127963635 127963642 + Frame_Shift_Del DEL GCACGAAT GCACGAAT - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr7:127963635_127963642delGCACGAAT ENST00000223073.1 - 13 1456_1463 c.1342_1349delATTCGTGC c.(1342-1350)tfs p.IRA448fs RBM28_ENST00000415472.2_Frame_Shift_Del_p.IRA307fs NM_018077.2 NP_060547.2 Q9NW13 RBM28_HUMAN RNA binding motif protein 28 448 mRNA processing|RNA splicing Golgi apparatus|nucleolus|spliceosomal complex nucleotide binding|RNA binding breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2) 21 CTTCGTCCCAGCACGAATCACTGCAGAA 0.471 26 571 --- --- --- --- EXOC4 60412 broad.mit.edu 37 7 133160210 133160210 + Frame_Shift_Del DEL A A - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr7:133160210delA ENST00000253861.4 + 8 1340 c.1311delA c.(1309-1311)ccfs p.P437fs EXOC4_ENST00000539845.1_Frame_Shift_Del_p.P336fs|EXOC4_ENST00000393161.2_Frame_Shift_Del_p.P437fs NM_021807.3 NP_068579.3 Q96A65 EXOC4_HUMAN exocyst complex component 4 437 vesicle docking involved in exocytosis exocyst protein N-terminus binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 50 Esophageal squamous(399;0.129) CTCAAAGGCCAAAAAATTCTC 0.373 7 632 --- --- --- --- XRCC2 7516 broad.mit.edu 37 7 152346220 152346220 + Frame_Shift_Del DEL A A - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr7:152346220delA ENST00000359321.1 - 3 435 c.350delT c.(349-351)tgfs p.L117fs XRCC2_ENST00000495707.1_5'UTR NM_005431.1 NP_005422.1 O43543 XRCC2_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 2 117 meiosis nucleus ATP binding|DNA binding|DNA-dependent ATPase activity p.V118fs*5(1) NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2) 11 all_hematologic(28;0.0592)|Prostate(32;0.081) OV - Ovarian serous cystadenocarcinoma(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (81;0.0429) GCAGTACACCAAAAAAAATCT 0.393 Homologous recombination 7 511 --- --- --- --- RAB11FIP1 80223 broad.mit.edu 37 8 37728932 37728933 + Frame_Shift_Ins INS - - T TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr8:37728932_37728933insT ENST00000330843.4 - 4 3399_3400 c.3387_3388insA c.(3385-3390)aaccacfs p.NH1129fs RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000524118.1_Intron NM_001002814.2 NP_001002814.2 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 (class I) 1129 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 49 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) TCTGCTGTGGCTTTTTTTTGAG 0.545 OREG0018713 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 943 --- --- --- --- KAT6A 7994 broad.mit.edu 37 8 41798420 41798422 + In_Frame_Del DEL CTC CTC - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr8:41798420_41798422delCTC ENST00000396930.3 - 16 3520_3522 c.2977_2979delGAG c.(2977-2979)del p.E993del KAT6A_ENST00000265713.2_In_Frame_Del_p.E993del|KAT6A_ENST00000406337.1_In_Frame_Del_p.E993del NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 993 Poly-Glu. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding GGCTTTCCGGCTCCTCCTCCTCC 0.567 8 730 --- --- --- --- TOX 9760 broad.mit.edu 37 8 59750796 59750798 + In_Frame_Del DEL CTT CTT - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 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 9 742 --- --- --- --- BHLHE22 27319 broad.mit.edu 37 8 65494020 65494021 + In_Frame_Ins INS - - GCA rs34265378 TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr8:65494020_65494021insGCA ENST00000321870.1 + 1 1207_1208 c.673_674insGCA c.(673-675)cag>GCAcag p.224_225insA RP11-21C4.1_ENST00000517909.1_RNA NM_152414.4 NP_689627.1 Q8NFJ8 BHE22_HUMAN basic helix-loop-helix family, member e22 224 Gly-rich.|Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus p.S234delS(1) NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1) 5 cggcagcggcggcagcagcagc 0.718 13 17 --- --- --- --- MYBL1 4603 broad.mit.edu 37 8 67488452 67488453 + Frame_Shift_Ins INS - - T TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr8:67488452_67488453insT ENST00000522677.3 - 10 1669_1670 c.1259_1260insA c.(1258-1260)aacfs p.N420fs MYBL1_ENST00000524176.2_Frame_Shift_Ins_p.N420fs|MYBL1_ENST00000517885.1_Intron NM_001080416.2|NM_001144755.1 NP_001073885.1|NP_001138227.1 P10243 MYBA_HUMAN v-myb avian myeloblastosis viral oncogene homolog-like 1 420 Negative regulatory domain (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1) 25 Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938) CATTACAAGTGTTTTTTTTCCC 0.406 11 873 --- --- --- --- CSMD3 114788 broad.mit.edu 37 8 113241029 113241029 + Frame_Shift_Del DEL A A - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr8:113241029delA ENST00000297405.5 - 70 11164 c.10920delT c.(10918-10920)ttfs p.F3640fs CSMD3_ENST00000455883.2_Frame_Shift_Del_p.F3471fs|CSMD3_ENST00000343508.3_Frame_Shift_Del_p.F3600fs|CSMD3_ENST00000352409.3_Frame_Shift_Del_p.F3570fs NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3640 integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 ATATAAGTGCAAAAAAAGGCA 0.303 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 7 305 --- --- --- --- TBC1D31 93594 broad.mit.edu 37 8 124140521 124140521 + Splice_Site DEL T T - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr8:124140521delT ENST00000287380.1 + 14 1975 c.1884_splice c.e14-1 p.F631_splice TBC1D31_ENST00000518805.1_Intron|TBC1D31_ENST00000327098.5_Splice_Site_p.F631_splice|TBC1D31_ENST00000378080.2_Splice_Site_p.F526_splice|TBC1D31_ENST00000522420.1_Splice_Site_p.F526_splice|TBC1D31_ENST00000521676.1_Splice_Site_p.F508_splice|TBC1D31_ENST00000309336.3_Splice_Site_p.F631_splice NM_145647.3 NP_663622.2 TBC1 domain family, member 31 TTTCTTACAGTTTTTTTTTCA 0.323 7 300 --- --- --- --- CDKN2A 1029 broad.mit.edu 37 9 21971003 21971004 + Frame_Shift_Ins INS - - A TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr9:21971003_21971004insA ENST00000304494.5 - 2 624_625 c.354_355insT c.(352-357)gcaggafs p.G119fs CDKN2A_ENST00000498124.1_Frame_Shift_Ins_p.G119fs|CDKN2A_ENST00000446177.1_Frame_Shift_Ins_p.G119fs|CDKN2A_ENST00000498628.2_Frame_Shift_Ins_p.G68fs|CDKN2A_ENST00000530628.2_Stop_Codon_Ins|CDKN2A_ENST00000579755.1_Stop_Codon_Ins|CDKN2A_ENST00000578845.2_Frame_Shift_Ins_p.G68fs|CDKN2A_ENST00000579122.1_Frame_Shift_Ins_p.G119fs|CDKN2A_ENST00000494262.1_Frame_Shift_Ins_p.G68fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Stop_Codon_Ins|CDKN2A_ENST00000497750.1_Frame_Shift_Ins_p.G68fs|CDKN2A_ENST00000479692.2_Frame_Shift_Ins_p.G68fs NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 119 E -> Q (in a biliary tract tumor). 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.E119*(4)|p.E119Q(2)|p.0(1)|p.A118fs*10(1)|p.A118fs*27(1)|p.*174L(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) CCCAGCTCCTCAGCCAGGTCCA 0.728 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 30 169 --- --- --- --- ASTN2 23245 broad.mit.edu 37 9 119976989 119976991 + In_Frame_Del DEL CAG CAG - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr9:119976989_119976991delCAG ENST00000313400.4 - 3 761_763 c.661_663delCTG c.(661-663)del p.L221del ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del O75129 ASTN2_HUMAN astrotactin 2 221 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 CGGTGAACACCAGCAGCAGCAGC 0.601 8 269 --- --- --- --- ANK3 288 broad.mit.edu 37 10 61828745 61828747 + In_Frame_Del DEL GTG GTG - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr10:61828745_61828747delGTG ENST00000280772.1 - 37 12083_12085 c.11892_11894delCAC c.(11890-11895)act>ac p.TT3964del ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3964 Thr-rich. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 ggtggtggcagtggtggtggtgg 0.498 9 567 --- --- --- --- CCAR1 55749 broad.mit.edu 37 10 70509285 70509286 + Frame_Shift_Del DEL GA GA - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr10:70509285_70509286delGA ENST00000265872.6 + 10 1080_1081 c.961_962delGA c.(961-963)gfs p.E321fs CCAR1_ENST00000543719.1_Frame_Shift_Del_p.E306fs|CCAR1_ENST00000535016.1_Frame_Shift_Del_p.E306fs NM_018237.2 NP_060707.2 Q8IX12 CCAR1_HUMAN cell division cycle and apoptosis regulator 1 321 Arg-rich. apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm|perinuclear region of cytoplasm calcium ion binding|nucleic acid binding|protein binding NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3) 56 TTTCAGTCGTGAGAGAGAGAGA 0.391 8 243 --- --- --- --- ZMIZ1 57178 broad.mit.edu 37 10 81070787 81070789 + In_Frame_Del DEL CTC CTC - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr10:81070787_81070789delCTC ENST00000334512.5 + 24 3514_3516 c.2942_2944delCTC c.(2941-2946)gct>g p.AP981del ZMIZ1_ENST00000446377.2_Intron NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 981 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) CACAGTGGGGCTCCTCCTCCTCC 0.635 7 810 --- --- --- --- MBL1P 0 broad.mit.edu 37 10 81680656 81680656 + RNA DEL A A - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr10:81680656delA ENST00000480805.1 + 0 723 NR_002724.2 GCTTTTGGGGAAAAAAAAAAG 0.542 8 63 --- --- --- --- PNLIPRP2 5408 broad.mit.edu 37 10 118396277 118396278 + RNA INS - - T rs148140777 by1000genomes TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr10:118396277_118396278insT ENST00000537242.1 + 0 962 PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA NM_005396.4 NP_005387.2 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity endometrium(1)|large_intestine(1)|lung(11)|prostate(3) 16 all cancers(201;0.015) GACAAATTATGGTTTTTTTTTT 0.421 19 32 --- --- --- --- C10orf82 143379 broad.mit.edu 37 10 118424338 118424338 + Frame_Shift_Del DEL T T - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr10:118424338delT ENST00000369210.3 - 4 449 c.395delA c.(394-396)acfs p.N132fs C10orf82_ENST00000588184.1_Frame_Shift_Del_p.N132fs NM_144661.2 NP_653262.1 Q8WW14 CJ082_HUMAN chromosome 10 open reading frame 82 132 endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 all cancers(201;0.0143) CTTGTAGCAGTTTTTGGCCAT 0.567 8 773 --- --- --- --- TSPAN4 0 broad.mit.edu 37 11 864443 864445 + In_Frame_Del DEL CTG CTG - rs61867552 byFrequency TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr11:864443_864445delCTG ENST00000397404.1 + 5 521_523 c.262_264delCTG c.(262-264)del p.L92del TSPAN4_ENST00000397396.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000409543.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000346501.4_In_Frame_Del_p.L92del|TSPAN4_ENST00000397411.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000525201.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000397406.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000397397.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000397408.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000409531.1_In_Frame_Del_p.L111del NM_001025237.1 NP_001020408.1 O14817 TSN4_HUMAN tetraspanin 4 92 protein complex assembly integral to plasma membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1) 3 all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) ACAGTTCTTCCTGCTGCTGCTGC 0.650 12 549 --- --- --- --- NUP98 4928 broad.mit.edu 37 11 3720389 3720389 + Frame_Shift_Del DEL T T - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr11:3720389delT ENST00000324932.7 - 25 4352 c.3932delA c.(3931-3933)acfs p.N1311fs NUP98_ENST00000355260.3_Frame_Shift_Del_p.N1311fs|NUP98_ENST00000359171.4_Frame_Shift_Del_p.N1311fs NM_016320.4|NM_139132.3 NP_057404.2|NP_624358.2 P52948 NUP98_HUMAN nucleoporin 98kDa 1328 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) CACAGGGCTGTTTTTTTGGGT 0.512 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 8 1195 --- --- --- --- SPON1 10418 broad.mit.edu 37 11 14276276 14276277 + RNA DEL GT GT - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr11:14276276_14276277delGT ENST00000310358.7 + 0 1627 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) GACCTATGAGGTGTGTGTGTGT 0.594 11 256 --- --- --- --- RASGRP2 10235 broad.mit.edu 37 11 64507637 64507638 + Splice_Site INS - - G TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr11:64507637_64507638insG ENST00000377494.1 - 5 1294 c.e5-2 RASGRP2_ENST00000394432.3_Splice_Site|RASGRP2_ENST00000377497.3_Splice_Site|RASGRP2_ENST00000354024.3_Splice_Site Q7LDG7 GRP2_HUMAN RAS guanyl releasing protein 2 (calcium and DAG-regulated) platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction cell junction|cytosol|ruffle membrane|synapse|synaptosome calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 TAGGTAGGGCTGGGGGGGCAGG 0.569 7 450 --- --- --- --- SIK3 23387 broad.mit.edu 37 11 116729011 116729013 + In_Frame_Del DEL TGT TGT - rs539858 byFrequency TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr11:116729011_116729013delTGT ENST00000375300.1 - 20 3029_3031 c.3024_3026delACA c.(3022-3027)cag>ca p.QQ1012del SIK3_ENST00000375288.1_In_Frame_Del_p.QQ289del|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000542607.1_In_Frame_Del_p.QQ894del|SIK3_ENST00000446921.2_In_Frame_Del_p.QQ952del|SIK3_ENST00000292055.4_In_Frame_Del_p.QQ954del|SIK3_ENST00000434315.2_In_Frame_Del_p.QQ793del Q9Y2K2 SIK3_HUMAN SIK family kinase 3 954 cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 57 ctgttgctgctgttgctgctgct 0.596 8 200 --- --- --- --- CBL 867 broad.mit.edu 37 11 119077232 119077233 + In_Frame_Ins INS - - CAC TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr11:119077232_119077233insCAC ENST00000264033.4 + 1 481_482 c.105_106insCAC c.(103-108)ccacca>ccCACacca p.35_36PP>PTP NM_005188.3 NP_005179.2 P22681 CBL_HUMAN Cbl proto-oncogene, E3 ubiquitin protein ligase 35 epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 251 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) CCTTCCAGCCGcaccaccacca 0.673 """T, Mis S, O""" MLL """AML, JMML, MDS""" Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies 7 17 --- --- --- --- C1QTNF5 114902 broad.mit.edu 37 11 119210190 119210190 + Frame_Shift_Del DEL C C - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr11:119210190delC ENST00000445041.2 - 15 3378 c.583delG c.(583-585)ccfs p.A195fs C1QTNF5_ENST00000525657.1_5'UTR|MFRP_ENST00000555262.1_3'UTR|MFRP_ENST00000530681.1_3'UTR|C1QTNF5_ENST00000528368.1_Frame_Shift_Del_p.A195fs NM_001278431.1|NM_015645.3|NM_031433.2 NP_001265360.1|NP_056460.1|NP_113621.1 Q9BY79 MFRP_HUMAN C1q and tumor necrosis factor related protein 5 147 CUB 1. embryo development integral to membrane endometrium(1)|lung(2) 3 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.78e-05) CTCACCATGGCCCCCCCCGAG 0.587 7 540 --- --- --- --- ATN1 1822 broad.mit.edu 37 12 7045880 7045885 + In_Frame_Del DEL CAGCAA CAGCAA - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr12:7045880_7045885delCAGCAA ENST00000356654.4 + 5 1687_1692 c.1450_1455delCAGCAA c.(1450-1455)del p.QQ500del ATN1_ENST00000396684.2_In_Frame_Del_p.QQ500del NM_001007026.1 NP_001007027.1 P54259 ATN1_HUMAN atrophin 1 500 Poly-Gln. cell death|central nervous system development cytoplasm|nucleus protein domain specific binding breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 CCATCACCACcagcaacagcaacagc 0.626 7 1304 --- --- --- --- LINC00937 0 broad.mit.edu 37 12 8519552 8519554 + RNA DEL CCA CCA - rs75567061 TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr12:8519552_8519554delCCA ENST00000544461.1 - 0 1081 RP11-113C12.4_ENST00000537764.1_RNA TACCAGCTTCccaccaccaccac 0.473 7 350 --- --- --- --- KRT1 3848 broad.mit.edu 37 12 53069236 53069256 + In_Frame_Del DEL TAGCTGCTACCTCCGGAGCCA TAGCTGCTACCTCCGGAGCCA - rs66529359 by1000genomes TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr12:53069236_53069256delTAGCTGCTACCTCCGGAGCCA ENST00000252244.3 - 9 1714_1734 c.1656_1676delTGGCTCCGGAGGTAGCAGCTA c.(1654-1677)tac>ta p.YGSGGSSY552del NM_006121.3 NP_006112.3 P04264 K2C1_HUMAN keratin 1 552 Gly/Ser-rich.|Tail. complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress plasma membrane protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding p.S557_G563delSSYGSGG(3) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3) 39 tccggagccgtagctgctacctccggagccatagctgccac 0.688 25 55 --- --- --- --- MARS 4141 broad.mit.edu 37 12 57883053 57883053 + Frame_Shift_Del DEL T T - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr12:57883053delT ENST00000262027.5 + 3 338 c.204delT c.(202-204)tafs p.Y68fs MARS_ENST00000315473.5_5'UTR|MARS_ENST00000447721.2_Intron NM_004990.3 NP_004981.2 P56192 SYMC_HUMAN methionyl-tRNA synthetase 68 methionyl-tRNA aminoacylation cytosol ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1) 33 GBM - Glioblastoma multiforme(3;4.27e-41) L-Methionine(DB00134) TGGGCAGATATTTTTTTTTGT 0.488 8 323 --- --- --- --- ZFC3H1 196441 broad.mit.edu 37 12 72057256 72057258 + In_Frame_Del DEL GCT GCT - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr12:72057256_72057258delGCT ENST00000378743.3 - 1 491_493 c.133_135delAGC c.(133-135)del p.S45del ZFC3H1_ENST00000548100.1_In_Frame_Del_p.S45del|ZFC3H1_ENST00000552037.1_In_Frame_Del_p.S45del|THAP2_ENST00000308086.2_5'UTR NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 45 Ser-rich. RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GCCCGCCGCCGCTGCTGCTGCTG 0.631 OREG0021993 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 727 --- --- --- --- TMEM19 55266 broad.mit.edu 37 12 72094757 72094757 + Frame_Shift_Del DEL T T - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 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 7 877 --- --- --- --- TPTE2 93492 broad.mit.edu 37 13 20041394 20041394 + Frame_Shift_Del DEL A A - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr13:20041394delA ENST00000400230.2 - 7 527 c.483delT c.(481-483)ttfs p.F161fs TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000382977.4_Frame_Shift_Del_p.F161fs|TPTE2_ENST00000382975.4_Intron|TPTE2_ENST00000382978.1_Intron Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 161 endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) ACTTAATGTCAAAAAAAATGT 0.303 7 301 --- --- --- --- KIAA1704 0 broad.mit.edu 37 13 45580365 45580367 + In_Frame_Del DEL GAT GAT - rs138421508 TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr13:45580365_45580367delGAT ENST00000361121.2 + 3 285_287 c.250_252delGAT c.(250-252)del p.D88del KIAA1704_ENST00000379151.4_In_Frame_Del_p.D88del|KIAA1704_ENST00000357537.3_De_novo_Start_InFrame|RP11-321C24.1_ENST00000437748.2_lincRNA Q8IXQ4 K1704_HUMAN 88 Poly-Asp. breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1) 12 Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126) Ggatgatgacgatgatgatgatg 0.335 7 918 --- --- --- --- DIS3 22894 broad.mit.edu 37 13 73337684 73337684 + Frame_Shift_Del DEL T T - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr13:73337684delT ENST00000377767.4 - 16 2132 c.2032delA c.(2032-2034)ttfs p.I678fs DIS3_ENST00000545453.1_Frame_Shift_Del_p.I516fs|DIS3_ENST00000377780.4_Frame_Shift_Del_p.I648fs NM_014953.3 NP_055768.3 Q9Y2L1 RRP44_HUMAN DIS3 mitotic control homolog (S. cerevisiae) 678 CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing cytosol|exosome (RNase complex)|nucleolus|nucleoplasm 3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1) 35 Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195) GBM - Glioblastoma multiforme(99;0.000181) TCCTCATGAATTTTTTTTGCA 0.358 Multiple Myeloma(4;0.011) 7 314 --- --- --- --- PIBF1 10464 broad.mit.edu 37 13 73357634 73357634 + Frame_Shift_Del DEL A A - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr13:73357634delA ENST00000326291.6 + 2 365 c.27delA c.(25-27)tcfs p.S9fs NM_006346.2 NP_006337.2 Q8WXW3 PIBF1_HUMAN progesterone immunomodulatory binding factor 1 9 centrosome breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865) GBM - Glioblastoma multiforme(99;0.000664) CAAAGGAGTCAAAAAAAGTGA 0.303 7 361 --- --- --- --- MMP14 4323 broad.mit.edu 37 14 23312996 23312996 + Frame_Shift_Del DEL A A - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr14:23312996delA ENST00000311852.6 + 6 1189 c.928delA c.(928-930)aafs p.K310fs MMP14_ENST00000548162.1_3'UTR NM_004995.2 NP_004986.1 P50281 MMP14_HUMAN matrix metallopeptidase 14 (membrane-inserted) 310 extracellular matrix|integral to plasma membrane|melanosome calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 20 all_cancers(95;9.47e-05) GBM - Glioblastoma multiforme(265;0.00551) TGATAAACCCAAAAACCCCAC 0.577 7 939 --- --- --- --- ACIN1 22985 broad.mit.edu 37 14 23528502 23528503 + Frame_Shift_Del DEL TC TC - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr14:23528502_23528503delTC ENST00000262710.1 - 19 4207_4208 c.3880_3881delGA c.(3880-3882)afs p.E1294fs ACIN1_ENST00000457657.1_Frame_Shift_Del_p.E1254fs|ACIN1_ENST00000397341.3_Frame_Shift_Del_p.E536fs|ACIN1_ENST00000357481.2_Frame_Shift_Del_p.E536fs|ACIN1_ENST00000338631.6_Frame_Shift_Del_p.E567fs|ACIN1_ENST00000555053.1_Frame_Shift_Del_p.E1281fs|ACIN1_ENST00000557515.1_Frame_Shift_Del_p.E535fs|ACIN1_ENST00000605057.1_Frame_Shift_Del_p.E1236fs NM_001164814.1|NM_014977.3 NP_001158286.1|NP_055792.1 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 1294 Arg/Asp/Glu/Lys-rich. apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 37 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) ccgctccctttctctctctctc 0.629 OREG0022595 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 295 --- --- --- --- BAZ1A 11177 broad.mit.edu 37 14 35331422 35331423 + Frame_Shift_Ins INS - - T TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr14:35331422_35331423insT ENST00000360310.1 - 3 786_787 c.219_220insA c.(217-222)aacaagfs p.NK73fs BAZ1A_ENST00000358716.4_Frame_Shift_Ins_p.NK73fs|BAZ1A_ENST00000553853.1_5'UTR|BAZ1A_ENST00000382422.2_Frame_Shift_Ins_p.NK73fs NM_013448.2 NP_038476.2 Q9NRL2 BAZ1A_HUMAN bromodomain adjacent to zinc finger domain, 1A 73 Required for association with the CHRAC1/POLE3 complex.|Required for interaction with NCOR1.|WAC. chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent ACF complex zinc ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Breast(36;0.0388)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175) GBM - Glioblastoma multiforme(112;0.0659) TTCTGTCTTGCTTTTTTTTCTG 0.426 13 974 --- --- --- --- RP11-407N17.3 0 broad.mit.edu 37 14 39746242 39746243 + Frame_Shift_Ins INS - - T rs75842899 byFrequency TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr14:39746242_39746243insT ENST00000553728.1 + 6 1986_1987 c.1773_1774insT c.(1771-1776)ctttttfs p.LF591fs CTAGE5_ENST00000348007.3_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000280083.3_Frame_Shift_Ins_p.LF56fs|RP11-407N17.3_ENST00000603904.1_Frame_Shift_Ins_p.LF27fs|CTAGE5_ENST00000557038.1_5'UTR|CTAGE5_ENST00000341749.3_Frame_Shift_Ins_p.LF44fs|CTAGE5_ENST00000396165.4_Frame_Shift_Ins_p.LF27fs|CTAGE5_ENST00000341502.5_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000556148.1_Intron|CTAGE5_ENST00000553352.1_Frame_Shift_Ins_p.LF27fs|CTAGE5_ENST00000396158.2_Frame_Shift_Ins_p.LF56fs TTGCTGTTCTCTTTTTTTTGTG 0.371 9 384 --- --- --- --- ELMSAN1 91748 broad.mit.edu 37 14 74205926 74205928 + In_Frame_Del DEL CTG CTG - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 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 7 155 --- --- --- --- TMED10 10972 broad.mit.edu 37 14 75601711 75601712 + Splice_Site INS - - A TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr14:75601711_75601712insA ENST00000303575.4 - 5 590 c.e5-2 TMED10_ENST00000557670.1_Splice_Site|RP11-950C14.7_ENST00000556236.1_RNA NM_006827.5 NP_006818.3 P49755 TMEDA_HUMAN transmembrane emp24-like trafficking protein 10 (yeast) protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane protein binding endometrium(1)|large_intestine(5)|lung(3) 9 BRCA - Breast invasive adenocarcinoma(234;0.0126) TTGTTGACTCTAAAAAAAAACA 0.426 9 367 --- --- --- --- FOXN3 1112 broad.mit.edu 37 14 89629149 89629151 + In_Frame_Del DEL GAG GAG - rs139532153 TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr14:89629149_89629151delGAG ENST00000345097.4 - 7 1196_1198 c.1080_1082delCTC c.(1078-1083)tca>tc p.SS360del FOXN3_ENST00000261302.5_In_Frame_Del_p.SS360del|FOXN3_ENST00000555353.1_In_Frame_Del_p.SS338del|FOXN3_ENST00000557258.1_In_Frame_Del_p.SS338del NM_001085471.1 NP_001078940.1 O00409 FOXN3_HUMAN forkhead box N3 360 DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GTCGTCGGCTGAGGAGGAGGAGG 0.650 7 223 --- --- --- --- BTBD7 55727 broad.mit.edu 37 14 93761192 93761193 + Frame_Shift_Ins INS - - T TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr14:93761192_93761193insT ENST00000334746.5 - 3 480_481 c.173_174insA c.(172-174)aagfs p.K58fs BTBD7_ENST00000555525.1_Frame_Shift_Ins_p.K58fs|BTBD7_ENST00000298896.3_Frame_Shift_Ins_p.K58fs|BTBD7_ENST00000554565.1_Intron NM_001002860.2 NP_001002860.2 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 58 p.K58fs*44(2)|p.R59fs*14(2) breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1) 35 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) CAGAGGTTCTCTTTTTTTTGTC 0.441 7 786 --- --- --- --- EMC7 56851 broad.mit.edu 37 15 34393991 34393993 + In_Frame_Del DEL AGC AGC - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr15:34393991_34393993delAGC ENST00000256545.4 - 1 156_158 c.48_50delGCT c.(46-51)cta>ct p.LL16del EMC7_ENST00000532113.1_5'UTR NM_020154.2 NP_064539.1 ER membrane protein complex subunit 7 ATCCCCCGATAGCAGCAGCAGCA 0.665 7 828 --- --- --- --- MAPKBP1 23005 broad.mit.edu 37 15 42105892 42105892 + Frame_Shift_Del DEL T T - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr15:42105892delT ENST00000457542.2 + 9 1179 c.893delT c.(892-894)ctfs p.L298fs MAPKBP1_ENST00000456763.2_Frame_Shift_Del_p.L304fs|MAPKBP1_ENST00000260357.7_Frame_Shift_Del_p.L186fs|MAPKBP1_ENST00000221214.6_Intron|MAPKBP1_ENST00000514566.1_Frame_Shift_Del_p.L298fs NM_014994.2 NP_055809.2 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 1 304 breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) ACCGTGCGCCTTTTCAACCCC 0.587 7 818 --- --- --- --- RP11-519G16.3 0 broad.mit.edu 37 15 45755662 45755663 + RNA INS - - C TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr15:45755662_45755663insC ENST00000560077.1 + 0 41 RP11-519G16.3_ENST00000560647.1_RNA|RP11-519G16.3_ENST00000558536.1_RNA caccaccaccacaccatcacca 0.574 2 4 --- --- --- --- MTFMT 123263 broad.mit.edu 37 15 65312612 65312613 + Splice_Site INS - - A TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr15:65312612_65312613insA ENST00000220058.4 - 5 659 c.e5-2 NM_139242.3 NP_640335.2 Q96DP5 FMT_HUMAN mitochondrial methionyl-tRNA formyltransferase mitochondrion methionyl-tRNA formyltransferase activity|methyltransferase activity endometrium(1)|large_intestine(3)|lung(3)|ovary(3) 10 Tetrahydrofolic acid(DB00116) TGAAATGAGCTACAAAAAAAAA 0.381 9 85 --- --- --- --- RAB40C 57799 broad.mit.edu 37 16 677579 677580 + Frame_Shift_Ins INS - - C TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr16:677579_677580insC ENST00000535977.1 + 7 1025_1026 c.803_804insC c.(802-804)accfs p.T268fs RAB40C_ENST00000248139.3_Frame_Shift_Ins_p.T268fs|RAB40C_ENST00000539661.1_Frame_Shift_Ins_p.T268fs|RAB40C_ENST00000538492.1_Frame_Shift_Ins_p.T268fs NM_001172663.1 NP_001166134.1 Q96S21 RB40C_HUMAN RAB40C, member RAS oncogene family 268 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding p.Q271fs*7(1) NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1) 6 Hepatocellular(780;0.0218) CCACCCCAGAGCCCCCCCCAGA 0.678 9 376 --- --- --- --- NTAN1 123803 broad.mit.edu 37 16 15131930 15131931 + Frame_Shift_Ins INS - - T TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr16:15131930_15131931insT ENST00000287706.3 - 10 982_983 c.890_891insA c.(889-891)agafs p.R297fs PDXDC1_ENST00000535621.2_Intron NM_173474.2 NP_775745.1 Q96AB6 NTAN1_HUMAN N-terminal asparagine amidase 297 cytoplasm endometrium(1)|large_intestine(4)|lung(3) 8 AGCCATCTTCATTTTTTTTGTA 0.386 7 558 --- --- --- --- RRN3P2 0 broad.mit.edu 37 16 29113498 29113498 + RNA DEL T T - rs11366120 TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr16:29113498delT ENST00000564580.1 + 0 1360 AGGAGGTGGAttttttttttc 0.542 19 56 --- --- --- --- RP11-19N8.2 0 broad.mit.edu 37 16 32989896 32989897 + RNA DEL TA TA - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr16:32989896_32989897delTA ENST00000567619.1 - 0 499 TCCACTCCTGTATTCTCTCCAC 0.510 8 26 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74394379 74394380 + RNA INS - - A rs142790741 by1000genomes TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr16:74394379_74394380insA ENST00000429810.2 - 0 435 TAGTCATCCTTAAACAAAATTC 0.347 6 13 --- --- --- --- VPS9D1 9605 broad.mit.edu 37 16 89778932 89778933 + Splice_Site INS - - G rs143123169 by1000genomes TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr16:89778932_89778933insG ENST00000561976.1 - 5 711 c.e5-2 VPS9D1_ENST00000389386.3_Splice_Site|VPS9D1-AS1_ENST00000562866.1_RNA VPS9 domain containing 1 AGAGAGGGTCTGGGGGGGGAGG 0.668 10 337 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7577035 7577036 + Frame_Shift_Ins INS - - G rs72661120 TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr17:7577035_7577036insG ENST00000420246.2 - 8 1034_1035 c.902_903insC c.(901-903)cggfs p.R301fs TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Frame_Shift_Ins_p.R301fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.R301fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.R301fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.R301fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 301 Interaction with CARM1.|Interaction with HIPK1 (By similarity). P -> A (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.G302fs*4(5)|p.?(3)|p.P301P(2)|p.P301fs*44(2)|p.P301_S303delPGS(1)|p.L299fs*2(1)|p.P301fs*5(1)|p.L265_K305del41(1)|p.P301Q(1)|p.G293fs*1(1)|p.P301L(1)|p.E298_P301delELPP(1)|p.H296_S303delHHELPPGS(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) TAGTGCTCCCTGGGGGCAGCTC 0.559 111 """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) 69 393 --- --- --- --- MYH10 4628 broad.mit.edu 37 17 8415820 8415822 + In_Frame_Del DEL TTC TTC - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr17:8415820_8415822delTTC ENST00000360416.3 - 24 3037_3039 c.2899_2901delGAA c.(2899-2901)del p.E967del MYH10_ENST00000269243.4_In_Frame_Del_p.E936del|MYH10_ENST00000396239.1_In_Frame_Del_p.E957del|MYH10_ENST00000379980.4_In_Frame_Del_p.E952del NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 936 actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 TTTGGTTTCTTTCTTCTTCTTCT 0.350 8 284 --- --- --- --- WDR16 146845 broad.mit.edu 37 17 9503387 9503389 + In_Frame_Del DEL GAT GAT - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr17:9503387_9503389delGAT ENST00000352665.5 + 6 709_711 c.640_642delGAT c.(640-642)del p.D217del WDR16_ENST00000299764.5_In_Frame_Del_p.D227del|WDR16_ENST00000396219.3_In_Frame_Del_p.D149del NM_145054.4 NP_659491.4 Q8N1V2 WDR16_HUMAN WD repeat domain 16 217 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 TCTTCAGGTGGATGATGATGATA 0.502 7 579 --- --- --- --- DHRS7B 25979 broad.mit.edu 37 17 21094331 21094333 + In_Frame_Del DEL GAA GAA - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr17:21094331_21094333delGAA ENST00000395511.3 + 7 1163_1165 c.843_845delGAA c.(841-846)ggg>gg p.GK281del DHRS7B_ENST00000579303.1_In_Frame_Del_p.GK266del|DHRS7B_ENST00000581463.1_Intron NM_015510.4 NP_056325.2 Q6IAN0 DRS7B_HUMAN dehydrogenase/reductase (SDR family) member 7B 281 integral to membrane|peroxisomal membrane binding|oxidoreductase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2) 7 CTGCTGTGGGGAAGAAGAAGAAA 0.507 7 966 --- --- --- --- KIAA0100 9703 broad.mit.edu 37 17 26971123 26971123 + Frame_Shift_Del DEL A A - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr17:26971123delA ENST00000528896.2 - 2 225 c.151delT c.(151-153)ggfs p.W51fs KIAA0100_ENST00000544884.1_5'UTR|KIAA0100_ENST00000389003.3_5'UTR NM_014680.3 NP_055495.2 Q14667 K0100_HUMAN KIAA0100 51 extracellular region breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3) 68 Lung NSC(42;0.00431) TTCTGGATCCAAAAAAAGCGG 0.478 OREG0024280 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 604 --- --- --- --- SUPT6H 6830 broad.mit.edu 37 17 27001303 27001305 + In_Frame_Del DEL GAG GAG - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr17:27001303_27001305delGAG ENST00000314616.6 + 3 395_397 c.112_114delGAG c.(112-114)del p.E43del SUPT6H_ENST00000347486.4_In_Frame_Del_p.E43del NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 43 Asp/Glu-rich. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) TCTTCCAGATGAGGAGGAGGAGG 0.453 8 273 --- --- --- --- NUFIP2 57532 broad.mit.edu 37 17 27620990 27620992 + In_Frame_Del DEL GCT GCT - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 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 7 397 --- --- --- --- SUZ12P 0 broad.mit.edu 37 17 29096087 29096087 + RNA DEL T T - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr17:29096087delT ENST00000582557.1 + 0 1381 ATATTGGTAATTTTTTTTTTT 0.343 31 53 --- --- --- --- KRTAP9-1 0 broad.mit.edu 37 17 39346425 39346427 + In_Frame_Del DEL GTG GTG - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr17:39346425_39346427delGTG ENST00000398470.1 + 1 287_289 c.287_289delGTG c.(286-291)tgc>t p.CG96del KRTAP9-1_ENST00000377723.3_Intron|KRTAP9-1_ENST00000318329.5_Splice_Site_p.CG46_splice NM_001190460.1 NP_001177389.1 A8MXZ3 KRA91_HUMAN keratin associated protein 9-1 96 30 X 5 AA repeats of C-C-[CGSVRQH]- [SQTNP]-[PTSI]. keratin filament breast(1)|lung(3) 4 TCCAGCTGCTGTGGCCAAACCAG 0.606 8 133 --- --- --- --- CDC27 996 broad.mit.edu 37 17 45219612 45219612 + Frame_Shift_Del DEL A A - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr17:45219612delA ENST00000066544.3 - 11 1454 c.1361delT c.(1360-1362)cafs p.L454fs CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 454 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 TGCTTTTTGTAGATTAAAGGC 0.308 13 147 --- --- --- --- LRRC37A16P 0 broad.mit.edu 37 17 66141015 66141016 + RNA INS - - A TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr17:66141015_66141016insA ENST00000590019.1 - 0 70 CCAAGATTTCTACAAAAAAAAA 0.322 7 196 --- --- --- --- SEH1L 81929 broad.mit.edu 37 18 12986927 12986929 + In_Frame_Del DEL TCC TCC - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr18:12986927_12986929delTCC ENST00000399892.2 + 9 1238_1240 c.1137_1139delTCC c.(1135-1140)ctt>ct p.LP379del SEH1L_ENST00000262124.11_3'UTR|RP11-773H22.4_ENST00000588211.1_RNA NM_001013437.1 NP_001013455.1 Q96EE3 SEH1_HUMAN SEH1-like (S. cerevisiae) 0 attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1) 11 CCCAGCTCCTtcctcctcctcct 0.522 7 292 --- --- --- --- RTTN 25914 broad.mit.edu 37 18 67697248 67697249 + Splice_Site INS - - T TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr18:67697248_67697249insT ENST00000255674.6 - 42 6030_6031 c.5745_splice c.e42+1 p.R1915_splice RTTN_ENST00000454359.1_3'UTR|RTTN_ENST00000579986.1_5'UTR NM_173630.3 NP_775901.3 Q86VV8 RTTN_HUMAN rotatin 1915 binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Esophageal squamous(42;0.129) AGAATGTTACCTTTTTTTTCAA 0.401 8 482 --- --- --- --- TNFSF9 8744 broad.mit.edu 37 19 6531149 6531151 + In_Frame_Del DEL GCT GCT - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 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 7 271 --- --- --- --- ZNF358 140467 broad.mit.edu 37 19 7585344 7585370 + In_Frame_Del DEL GCCGCGGCCGCTGCAGCTGCAGCAGCG GCCGCGGCCGCTGCAGCTGCAGCAGCG - rs71752719 TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr19:7585344_7585370delGCCGCGGCCGCTGCAGCTGCAGCAGCG ENST00000597229.1 + 2 1386_1412 c.1216_1242delGCCGCGGCCGCTGCAGCTGCAGCAGCG c.(1216-1242)del p.AAAAAAAAA406del ZNF358_ENST00000394341.2_In_Frame_Del_p.AAAAAAAAA406del|CTD-2207O23.11_ENST00000602083.1_RNA NM_018083.4 NP_060553.4 Q9NW07 ZN358_HUMAN zinc finger protein 358 406 Poly-Ala. embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2) 8 tgctgcagctgccgcggccgctgcagctgcagcagcggccgccgGCC 0.692 12 59 --- --- --- --- OR7C1 26664 broad.mit.edu 37 19 14910638 14910638 + Frame_Shift_Del DEL A A - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr19:14910638delA ENST00000248073.2 - 1 385 c.311delT c.(310-312)tcfs p.F104fs OR7A5_ENST00000601611.1_Intron NM_198944.1 NP_945182.1 O76099 OR7C1_HUMAN olfactory receptor, family 7, subfamily C, member 1 104 sensory perception of smell|spermatogenesis integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1) 18 AAATGAAGTGAAAAAAAAAAT 0.443 22 406 --- --- --- --- CHERP 10523 broad.mit.edu 37 19 16640581 16640583 + In_Frame_Del DEL TGC TGC - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr19:16640581_16640583delTGC ENST00000546361.2 - 8 1156_1158 c.1005_1007delGCA c.(1003-1008)caa>ca p.QQ339del CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_In_Frame_Del_p.QQ350del NM_006387.5 NP_006378.3 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum protein 339 Gln-rich. cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3) 24 ctgctgctgttgctgctgctgct 0.670 8 172 --- --- --- --- CTC-260E6.6 0 broad.mit.edu 37 19 20359846 20359847 + RNA DEL GT GT - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr19:20359846_20359847delGT ENST00000593655.1 - 0 199 TTAAGTAAAGGTGTGTGTGTGT 0.421 9 449 --- --- --- --- PRX 57716 broad.mit.edu 37 19 40900180 40900182 + In_Frame_Del DEL TCC TCC - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr19:40900180_40900182delTCC ENST00000324001.7 - 7 4347_4349 c.4077_4079delGGA c.(4075-4080)gaa>ga p.EE1359del PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 1359 Poly-Glu. Missing. axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) ACTGCcctcttcctcctcctcct 0.695 7 177 --- --- --- --- LYPD3 27076 broad.mit.edu 37 19 43969653 43969655 + In_Frame_Del DEL AGC AGC - rs141441894 byFrequency TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr19:43969653_43969655delAGC ENST00000244333.3 - 1 157_159 c.69_71delGCT c.(67-72)ctt>ct p.LL23del NM_014400.2 NP_055215.2 O95274 LYPD3_HUMAN LY6/PLAUR domain containing 3 23 anchored to plasma membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2) 11 Prostate(69;0.0153) ACCTCCGCGAAGCAGCAGCAGCA 0.675 14 681 --- --- --- --- PLAUR 5329 broad.mit.edu 37 19 44174235 44174237 + In_Frame_Del DEL AGC AGC - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr19:44174235_44174237delAGC ENST00000221264.4 - 1 462_464 c.36_38delGCT c.(34-39)ctc>ct p.LL12del PLAUR_ENST00000340093.3_In_Frame_Del_p.LL12del|PLAUR_ENST00000339082.3_In_Frame_Del_p.LL12del|PLAUR_ENST00000601723.1_In_Frame_Del_p.LL12del NM_001005377.2 NP_001005377.1 Q03405 UPAR_HUMAN plasminogen activator, urokinase receptor 12 attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane enzyme binding|U-plasminogen activator receptor activity endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3) 20 Prostate(69;0.0153) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013) GCAGGTGTGGagcagcagcagca 0.660 7 631 --- --- --- --- RSPH6A 81492 broad.mit.edu 37 19 46299165 46299167 + In_Frame_Del DEL CCT CCT - rs62639328 byFrequency TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 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 8 856 --- --- --- --- RSPH6A 81492 broad.mit.edu 37 19 46307971 46307972 + In_Frame_Ins INS - - CTCCTGGTC TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr19:46307971_46307972insCTCCTGGTC ENST00000221538.3 - 3 1333_1334 c.1191_1192insGACCAGGAG c.(1189-1194)gaaggc>gaGACCAGGAGaggc p.397_398EG>ETRRG RSPH6A_ENST00000597055.1_In_Frame_Ins_p.397_398EG>ETRRG|RSPH6A_ENST00000600188.1_In_Frame_Ins_p.133_134EG>ETRRG NM_030785.3 NP_110412.1 Q9H0K4 RSH6A_HUMAN radial spoke head 6 homolog A (Chlamydomonas) 397 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 TCCACGGccttctcctcgtcct 0.644 15 167 --- --- --- --- SLC8A2 6543 broad.mit.edu 37 19 47935681 47935683 + In_Frame_Del DEL TCC TCC - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr19:47935681_47935683delTCC ENST00000236877.6 - 9 2525_2527 c.2130_2132delGGA c.(2128-2133)gac>ga p.ED710del SLC8A2_ENST00000601757.1_5'UTR|SLC8A2_ENST00000542837.1_In_Frame_Del_p.ED466del|SLC8A2_ENST00000539381.1_In_Frame_Del_p.ED173del NM_015063.2 NP_055878.1 Q9UPR5 NAC2_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 2 710 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1) 31 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) CCGGGACCCGTCCTCCTCCTCCT 0.616 7 602 --- --- --- --- FUZ 80199 broad.mit.edu 37 19 50310483 50310485 + In_Frame_Del DEL CAG CAG - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr19:50310483_50310485delCAG ENST00000313777.4 - 11 1343_1345 c.1180_1182delCTG c.(1180-1182)del p.L394del FUZ_ENST00000445575.2_Intron|FUZ_ENST00000528094.1_In_Frame_Del_p.L358del|FUZ_ENST00000533418.1_In_Frame_Del_p.L344del 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 8 270 --- --- --- --- NAPSA 9476 broad.mit.edu 37 19 50868836 50868838 + In_Frame_Del DEL GCA GCA - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr19:50868836_50868838delGCA ENST00000253719.2 - 1 249_251 c.41_43delTGC c.(40-45)cct>c p.LP14del NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron NM_004851.1 NP_004842.1 O96009 NAPSA_HUMAN napsin A aspartic peptidase 14 proteolysis extracellular region aspartic-type endopeptidase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3) 12 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183) TTcagcagaggcagcagcagcag 0.596 8 176 --- --- --- --- SIGLEC8 27181 broad.mit.edu 37 19 51961617 51961619 + In_Frame_Del DEL GCA GCA - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr19:51961617_51961619delGCA ENST00000321424.3 - 1 89_91 c.23_25delTGC c.(22-27)ccc>c p.LP8del SIGLEC8_ENST00000340550.5_In_Frame_Del_p.LP8del|SIGLEC8_ENST00000430817.1_In_Frame_Del_p.LP8del NM_014442.2 NP_055257.2 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 8 cell adhesion integral to membrane sugar binding|transmembrane receptor activity NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2) 50 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) CAGagcaggggcagcagcagcag 0.596 19 495 --- --- --- --- TMC4 147798 broad.mit.edu 37 19 54675747 54675749 + In_Frame_Del DEL TCC TCC - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr19:54675747_54675749delTCC ENST00000376591.4 - 2 332_334 c.201_203delGGA c.(199-204)gat>ga p.ED67del TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del NM_001145303.1|NM_144686.2 NP_001138775.1|NP_653287.1 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 67 Poly-Glu. integral to membrane breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1) 22 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CCTTCCTCCATCCTCCTCCTCCT 0.645 12 491 --- --- --- --- LILRB2 0 broad.mit.edu 37 19 54780707 54780709 + In_Frame_Del DEL GAG GAG - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr19:54780707_54780709delGAG ENST00000391748.1 - 10 1559_1561 c.1432_1434delCTC c.(1432-1434)del p.L478del LILRB2_ENST00000434421.1_In_Frame_Del_p.L363del|LILRB2_ENST00000314446.5_In_Frame_Del_p.L478del|LILRB2_ENST00000391749.4_In_Frame_Del_p.L479del|LILRB2_ENST00000391746.1_In_Frame_Del_p.L479del NM_001278403.1 NP_001265332.1 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 479 cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity p.L479L(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 44 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) ggatgaggaagaggaggaggagg 0.611 15 693 --- --- --- --- CD93 22918 broad.mit.edu 37 20 23065523 23065523 + Frame_Shift_Del DEL C C - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr20:23065523delC ENST00000246006.4 - 1 1454 c.1307delG c.(1306-1308)gcfs p.G436fs NM_012072.3 NP_036204.2 Q9NPY3 C1QR1_HUMAN CD93 molecule 436 EGF-like 5; calcium-binding (Potential). cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) GCAGAGGGGGCCCCCCGGGCC 0.637 7 658 --- --- --- --- GZF1 64412 broad.mit.edu 37 20 23345921 23345923 + In_Frame_Del DEL GAG GAG - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr20:23345921_23345923delGAG ENST00000338121.5 + 2 978_980 c.901_903delGAG c.(901-903)del p.E306del GZF1_ENST00000542987.1_Intron|GZF1_ENST00000377051.2_In_Frame_Del_p.E306del|GZF1_ENST00000461789.1_3'UTR|GZF1_ENST00000544236.1_Intron Q9H116 GZF1_HUMAN GDNF-inducible zinc finger protein 1 306 transcription, DNA-dependent nucleolus|nucleoplasm sequence-specific DNA binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2) 24 Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135) ggaggaggaagaggaggaggagg 0.532 10 401 --- --- --- --- KIF3B 9371 broad.mit.edu 37 20 30898763 30898765 + In_Frame_Del DEL GAG GAG - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr20:30898763_30898765delGAG ENST00000375712.3 + 2 1350_1352 c.1183_1185delGAG c.(1183-1185)del p.E399del KIF3B_ENST00000418717.2_Intron NM_004798.3 NP_004789.1 O15066 KIF3B_HUMAN kinesin family member 3B 399 Poly-Glu. anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) GGGTGGggaagaggaggaggagg 0.571 7 239 --- --- --- --- IFNGR2 3460 broad.mit.edu 37 21 34799292 34799292 + Frame_Shift_Del DEL T T - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr21:34799292delT ENST00000290219.6 + 4 1162 c.514delT c.(514-516)ttfs p.F173fs IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs|IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs NM_005534.3 NP_005525.2 P38484 INGR2_HUMAN interferon gamma receptor 2 (interferon gamma transducer 1) 173 Fibronectin type-III 2. regulation of interferon-gamma-mediated signaling pathway|response to virus endoplasmic reticulum|integral to plasma membrane interferon-gamma receptor activity NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1) 13 Interferon gamma-1b(DB00033) CTCCACGGCCTTTTTTTGTTA 0.458 10 1733 --- --- --- --- PTTG1IP 754 broad.mit.edu 37 21 46276194 46276196 + In_Frame_Del DEL GCA GCA - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr21:46276194_46276196delGCA ENST00000330938.3 - 4 581_583 c.361_363delTGC c.(361-363)del p.C121del PTTG1IP_ENST00000397887.3_Intron|PTTG1IP_ENST00000494690.1_5'UTR|PTTG1IP_ENST00000445724.2_Intron|PTTG1IP_ENST00000397886.3_In_Frame_Del_p.C100del NM_004339.3 NP_004330.1 P53801 PTTG_HUMAN pituitary tumor-transforming 1 interacting protein 121 Poly-Cys. protein import into nucleus cytoplasm|integral to membrane|nucleus ovary(1)|prostate(1) 2 Colorectal(79;0.0659) TCTTCCTCCTGCAGCAGCAGCAG 0.616 8 419 --- --- --- --- LA16c-23H5.4 0 broad.mit.edu 37 22 16419386 16419394 + RNA DEL ACTTCATCG ACTTCATCG - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr22:16419386_16419394delACTTCATCG ENST00000444162.1 + 0 294_302 CGGATAAACAACTTCATCGATGTGCTTCA 0.431 9 73 --- --- --- --- MED15 51586 broad.mit.edu 37 22 20920814 20920816 + In_Frame_Del DEL CAG CAG - rs71769813 TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr22:20920814_20920816delCAG ENST00000263205.7 + 7 820_822 c.751_753delCAG c.(751-753)del p.Q262del MED15_ENST00000478831.1_3'UTR|MED15_ENST00000406969.1_In_Frame_Del_p.Q236del|MED15_ENST00000425759.2_In_Frame_Del_p.Q151del|MED15_ENST00000382974.2_In_Frame_Del_p.Q191del|MED15_ENST00000541476.1_In_Frame_Del_p.Q236del|MED15_ENST00000292733.7_In_Frame_Del_p.Q262del|MED15_ENST00000542773.1_In_Frame_Del_p.Q67del NM_001003891.1 NP_001003891.1 Q96RN5 MED15_HUMAN mediator complex subunit 15 262 Poly-Gln. Missing. Missing (in Ref. 3; BAB85034). regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding p.Q250_Q251insQ(4) 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) acaacagcaacagcagcagcagc 0.591 21 261 --- --- --- --- LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661172 22661173 + RNA INS - - C rs7410785 TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr22:22661172_22661173insC ENST00000426066.1 + 0 264_265 NR_027293.1 CATACAGGTTTTCCCCCCCCAC 0.411 7 234 --- --- --- --- ZNRF3 84133 broad.mit.edu 37 22 29445819 29445821 + In_Frame_Del DEL CAG CAG - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr22:29445819_29445821delCAG ENST00000544604.2 + 8 1825_1827 c.1650_1652delCAG c.(1648-1653)gac>ga p.DS550del ZNRF3_ENST00000402174.1_In_Frame_Del_p.DS450del|ZNRF3_ENST00000332811.4_In_Frame_Del_p.DS450del|ZNRF3_ENST00000406323.3_In_Frame_Del_p.DS450del NM_001206998.1 NP_001193927.1 Q9ULT6 ZNRF3_HUMAN zinc and ring finger 3 550 integral to membrane zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 28 CAGgcagcgacagcagcagcagc 0.660 9 268 --- --- --- --- BIK 638 broad.mit.edu 37 22 43525245 43525247 + In_Frame_Del DEL GCT GCT - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chr22:43525245_43525247delGCT ENST00000216115.2 + 5 480_482 c.417_419delGCT c.(415-420)gcg>gc p.AL139del NM_001197.4 NP_001188.1 Q13323 BIK_HUMAN BCL2-interacting killer (apoptosis-inducing) 139 Leucine-zipper (Potential). apoptosis|induction of apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria endomembrane system|integral to membrane breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1) 5 Ovarian(80;0.0694) tgctgctggcgctgctgctgctg 0.724 8 435 --- --- --- --- IRS4 8471 broad.mit.edu 37 X 107977802 107977803 + Frame_Shift_Ins INS - - C TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chrX:107977802_107977803insC ENST00000372129.2 - 1 1848_1849 c.1772_1773insG c.(1771-1773)gaafs p.E591fs NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 591 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 CTGAGCCTTTGCCCCCCCCAGA 0.545 9 964 --- --- --- --- MAMLD1 10046 broad.mit.edu 37 X 149639633 149639635 + In_Frame_Del DEL GCA GCA - TCGA-HZ-7926-01A-11D-2154-08 TCGA-HZ-7926-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52a320eb-4f2e-435f-911d-75790f855b96 65e65329-48f3-452a-aa5c-f9c26692b9f4 g.chrX:149639633_149639635delGCA ENST00000370401.2 + 4 2098_2100 c.1788_1790delGCA c.(1786-1791)ctg>ct p.LQ596del MAMLD1_ENST00000455522.2_In_Frame_Del_p.LQ77del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.LQ596del Q13495 MAMD1_HUMAN mastermind-like domain containing 1 596 Poly-Gln. male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2) 37 Acute lymphoblastic leukemia(192;6.56e-05) CCTTgcagctgcagcagcagcag 0.611 7 375 --- --- --- ---