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 SORCS3 22986 broad.mit.edu 37 10 106918737 106918737 + Missense_Mutation SNP C C A TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr10:106918737C>A ENST00000369701.3 + 11 1944 c.1717C>A c.(1717-1719)Ctt>Att p.L573I NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 573 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) AGCCCCAGGACTTGTGGTGGC 0.433000 66 293 7.05995e-25 7.6875e-25 1 1 0 FRG1B 0 broad.mit.edu 37 20 29625875 29625875 + Missense_Mutation SNP T T C rs143761036 by1000genomes TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr20:29625875T>C ENST00000278882.3 + 5 499 c.119T>C c.(118-120)aTc>aCc p.I40T FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T p.I40T(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGTACAGAATCGCCCTGAAA 0.358000 20 483 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176759114 176759114 + Splice_Site SNP G G C TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr1:176759114G>C ENST00000367662.3 + 18 6048 c.e18+1 NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 ACGTGAAAAGGTAAGGAACAT 0.418000 129 517 0 0 1 0 0 SEZ6L2 26470 broad.mit.edu 37 16 29908310 29908310 + Missense_Mutation SNP G G T TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr16:29908310G>T ENST00000308713.5 - 3 871 c.344C>A c.(343-345)gCa>gAa p.A115E SEZ6L2_ENST00000346932.5_Missense_Mutation_p.A115E|SEZ6L2_ENST00000350527.3_Intron|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.A71E|SEZ6L2_ENST00000562159.1_5'UTR NM_001114099.2|NM_201575.3 NP_001107571.1|NP_963869.2 Q6UXD5 SE6L2_HUMAN seizure related 6 homolog (mouse)-like 2 115 Pro-rich. endoplasmic reticulum membrane|integral to membrane|plasma membrane breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 AGTGGGGCCTGCCCCCCTGAC 0.736000 4 48 0.000602214 0.000608423 1 1 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 9 216 0 0 1 0 0 CYP4F22 126410 broad.mit.edu 37 19 15651359 15651359 + Missense_Mutation SNP G G A TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr19:15651359G>A ENST00000269703.2 + 8 969 c.770G>A c.(769-771)cGc>cAc p.R257H CYP4F22_ENST00000601005.2_Missense_Mutation_p.R257H NM_173483.3 NP_775754.2 Q6NT55 CP4FN_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 22 257 endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 37 ATTTACTACCGCTCGGCGGAT 0.582000 202 282 0 0 1 0 0 MROH7 374977 broad.mit.edu 37 1 55148429 55148429 + Missense_Mutation SNP G G A TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr1:55148429G>A ENST00000414150.2 + 14 2760 c.2482G>A c.(2482-2484)Gtc>Atc p.V828I MROH7_ENST00000454855.2_Missense_Mutation_p.V346I|MROH7_ENST00000421030.2_Missense_Mutation_p.V828I|MROH7_ENST00000395690.2_Missense_Mutation_p.V828I|MROH7_ENST00000339553.5_Missense_Mutation_p.V828I|MROH7_ENST00000545244.1_Missense_Mutation_p.V396I|MROH7_ENST00000409996.1_Missense_Mutation_p.V396I maestro heat-like repeat family member 7 GGAGAAGCCCGTCACCAAGGA 0.622000 66 200 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 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) TCTTAACTTACTGTTGTGAAA 0.418000 26 345 0 0 1 0 0 NUAK1 9891 broad.mit.edu 37 12 106460608 106460608 + Missense_Mutation SNP G G A TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr12:106460608G>A ENST00000261402.2 - 7 3337 c.1958C>T c.(1957-1959)gCg>gTg p.A653V NM_014840.2 NP_055655.1 O60285 NUAK1_HUMAN NUAK family, SNF1-like kinase, 1 653 ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 37 GATCTCCAGCGCTTGCTTGTA 0.632000 187 516 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 13 325 0 0 1 0 0 PLEKHH1 57475 broad.mit.edu 37 14 68044761 68044761 + Missense_Mutation SNP G G A TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr14:68044761G>A ENST00000329153.5 + 19 2728 c.2596G>A c.(2596-2598)Gtg>Atg p.V866M NM_020715.2 NP_065766.1 Q9ULM0 PKHH1_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 866 MyTH4. cytoskeleton binding endometrium(2)|kidney(4)|lung(12)|urinary_tract(1) 19 all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011) CTTCATCAACGTGCCGGTGGA 0.597000 181 324 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 12 331 0 0 1 0 0 ANKHD1 54882 broad.mit.edu 37 5 139918629 139918629 + Silent SNP A A G TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr5:139918629A>G ENST00000297183.6 + 33 7654 c.7530A>G c.(7528-7530)aaA>aaG p.K2510K ANKHD1_ENST00000360839.2_Silent_p.K2510K|ANKHD1_ENST00000544120.1_Silent_p.K834K|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.K2510K NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTATGATAAAAGTTATCCAAA 0.403000 73 278 0 0 1 0 0 PLEKHA3 65977 broad.mit.edu 37 2 179368599 179368599 + Silent SNP A A T TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr2:179368599A>T ENST00000234453.4 + 8 1290 c.888A>T c.(886-888)ccA>ccT p.P296P NM_019091.3 NP_061964.3 Q9HB20 PKHA3_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3 296 cytoplasm|membrane endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1) 11 OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865) ATACTCTTCCATCCTTCTCTT 0.363000 53 307 0 0 1 0 0 SLC12A6 9990 broad.mit.edu 37 15 34546711 34546711 + Missense_Mutation SNP C C T TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr15:34546711C>T ENST00000354181.3 - 9 1448 c.956G>A c.(955-957)cGt>cAt p.R319H SLC12A6_ENST00000558589.1_Missense_Mutation_p.R310H|SLC12A6_ENST00000558667.1_Missense_Mutation_p.R319H|SLC12A6_ENST00000458406.2_Missense_Mutation_p.R260H|SLC12A6_ENST00000397702.2_Missense_Mutation_p.R260H|SLC12A6_ENST00000397707.2_Missense_Mutation_p.R304H|SLC12A6_ENST00000451844.2_Missense_Mutation_p.R131H|SLC12A6_ENST00000290209.5_Missense_Mutation_p.R268H|SLC12A6_ENST00000560164.1_Missense_Mutation_p.R131H|SLC12A6_ENST00000560611.1_Missense_Mutation_p.R319H Q9UHW9 S12A6_HUMAN solute carrier family 12 (potassium/chloride transporter), member 6 319 angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3) 45 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) GCCGTAGACACGCATGTTATT 0.453000 17 254 0 0 1 0 0 POLR3B 55703 broad.mit.edu 37 12 106820987 106820987 + Missense_Mutation SNP C C T TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr12:106820987C>T ENST00000228347.4 + 13 1336 c.1114C>T c.(1114-1116)Ctt>Ttt p.L372F POLR3B_ENST00000549195.1_3'UTR|POLR3B_ENST00000539066.1_Missense_Mutation_p.L314F NM_018082.5 NP_060552.4 Q9NW08 RPC2_HUMAN polymerase (RNA) III (DNA directed) polypeptide B 372 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding p.L372F(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2) 57 TTTATCTCTTCTTTTTGAAGA 0.274000 12 82 0 0 1 0 0 KHDRBS3 10656 broad.mit.edu 37 8 136594144 136594144 + Missense_Mutation SNP G G A TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr8:136594144G>A ENST00000355849.5 + 6 1045 c.635G>A c.(634-636)cGg>cAg p.R212Q KHDRBS3_ENST00000520981.1_Intron NM_006558.1 NP_006549.1 O75525 KHDR3_HUMAN KH domain containing, RNA binding, signal transduction associated 3 212 Interaction with SIAH1. regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus SH3 domain binding NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 26 all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.247) GTTACAGCCCGGCCAGTTGGA 0.502000 84 524 0 0 1 0 0 CEACAM3 1084 broad.mit.edu 37 19 42312866 42312866 + Missense_Mutation SNP G G A TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr19:42312866G>A ENST00000357396.3 + 3 681 c.440G>A c.(439-441)gGc>gAc p.G147D CEACAM3_ENST00000344550.4_Missense_Mutation_p.G147D|CEACAM3_ENST00000221999.4_Missense_Mutation_p.G147D|CEACAM3_ENST00000595255.1_3'UTR NM_001815.2 NP_001806.2 P40198 CEAM3_HUMAN carcinoembryonic antigen-related cell adhesion molecule 3 147 integral to membrane endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1) 19 AATGCCCCAGGCCTTCCTGTG 0.612000 401 805 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179537144 179537144 + Silent SNP G G A TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr2:179537144G>A ENST00000589042.1 - 154 35144 c.34920C>T c.(34918-34920)ccC>ccT p.P11640P TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Silent_p.P11266P|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.P10339P NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 11476 Glu-rich.|Pro-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTTTAGCTGGGGGAACAGCTT 0.338000 483 813 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187542860 187542860 + Missense_Mutation SNP C C T TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr4:187542860C>T ENST00000441802.2 - 10 5089 c.4880G>A c.(4879-4881)cGa>cAa p.R1627Q NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 1627 Cadherin 14. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TTGGTTACTTCGATCTAATTC 0.368000 HNSCC(5;0.00058) 35 108 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C A rs121913530 TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr12:25398285C>A ENST00000311936.3 - 2 225 c.34G>T c.(34-36)Ggt>Tgt p.G12C KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000256078.4_Missense_Mutation_p.G12C 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.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|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) CCTACGCCACCAGCTCCAACT 0.348000 G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 156 66 1.4734e-65 1.6597e-65 1 1 0 ESPNP 0 broad.mit.edu 37 1 17046613 17046613 + RNA SNP C C T rs3856294 by1000genomes TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr1:17046613C>T ENST00000492551.1 - 0 39 NR_026567.1 CCAAAGCGGGCAGTCAGATGC 0.622000 12 312 0 0 1 0 0 PIK3CG 5294 broad.mit.edu 37 7 106508944 106508944 + Missense_Mutation SNP C C T TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr7:106508944C>T ENST00000359195.3 + 2 1248 c.938C>T c.(937-939)cCg>cTg p.P313L PIK3CG_ENST00000440650.2_Missense_Mutation_p.P313L|PIK3CG_ENST00000496166.1_Missense_Mutation_p.P313L NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 313 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 CCTCCAGACCCGGCCCTAGAC 0.587000 64 304 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32038177 32038177 + Missense_Mutation SNP C C T TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr6:32038177C>T ENST00000375244.3 - 14 5206 c.5005G>A c.(5005-5007)Gcc>Acc p.A1669T TNXB_ENST00000375247.2_Missense_Mutation_p.A1669T P22105 TENX_HUMAN tenascin XB 1751 Fibronectin type-III 9. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 CCTGGGCTGGCGTCACCTCGG 0.607000 27 75 0 0 1 0 0 TVP23C 201158 broad.mit.edu 37 17 15441469 15441469 + Splice_Site SNP C C T rs139351610 by1000genomes TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr17:15441469C>T ENST00000584811.1 - 7 1815 c.e7-2 TVP23C_ENST00000519970.1_Intron|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000225576.3_Intron|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000438826.3_Splice_Site trans-golgi network vesicle protein 23 homolog C (S. cerevisiae) TCCAGTGTTCCGCAAAAGACA 0.393000 15 350 0 0 1 0 0 NFRKB 4798 broad.mit.edu 37 11 129735831 129735831 + Silent SNP C C T TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr11:129735831C>T ENST00000446488.3 - 24 3682 c.3579G>A c.(3577-3579)caG>caA p.Q1193Q NFRKB_ENST00000524794.1_Silent_p.Q1218Q|NFRKB_ENST00000524746.1_Silent_p.Q1193Q|NFRKB_ENST00000304521.5_Silent_p.Q1193Q NM_001143835.1 NP_001137307.1 Q6P4R8 NFRKB_HUMAN nuclear factor related to kappaB binding protein 1193 DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Ino80 complex DNA binding|protease binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1) 32 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184) CCTTCATTGGCTGGCTGATCA 0.498000 52 330 0 0 1 0 0 ZNF561 93134 broad.mit.edu 37 19 9727815 9727815 + Missense_Mutation SNP G G C TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr19:9727815G>C ENST00000302851.3 - 4 510 c.147C>G c.(145-147)gaC>gaG p.D49E ZNF561_ENST00000495503.1_5'UTR|ZNF561_ENST00000326044.5_Missense_Mutation_p.D49E|ZNF561_ENST00000424629.1_5'UTR|ZNF561_ENST00000354661.4_5'UTR NM_152289.2 NP_689502.2 Q8N587 ZN561_HUMAN zinc finger protein 561 49 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1) 14 CTGGGGTGAAGTCCACAGCCA 0.463000 11 293 0 0 1 0 0 SLC30A1 7779 broad.mit.edu 37 1 211751575 211751575 + Missense_Mutation SNP T T A TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr1:211751575T>A ENST00000367001.4 - 1 509 c.380A>T c.(379-381)aAc>aTc p.N127I NM_021194.2 NP_067017.2 Q9Y6M5 ZNT1_HUMAN solute carrier family 30 (zinc transporter), member 1 127 cadmium ion transmembrane transport|cellular calcium ion homeostasis|cellular zinc ion homeostasis|negative regulation of calcium ion import|negative regulation of neurotransmitter secretion|negative regulation of zinc ion import integral to membrane|T-tubule calcium channel inhibitor activity|zinc ion transmembrane transporter activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1) 11 OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978) CCCCAGCACGTTGACCAGCAG 0.701000 20 67 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139629165 139629165 + Missense_Mutation SNP C C T TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr8:139629165C>T ENST00000303045.6 - 54 4308 c.3862G>A c.(3862-3864)Ggt>Agt p.G1288S COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.G1268S NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1288 Collagen-like 12.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) ACCCGGGGACCGGGTGCACCA 0.587000 HNSCC(7;0.00092) 79 411 0 0 1 0 0 QARS 5859 broad.mit.edu 37 3 49136038 49136038 + Missense_Mutation SNP C C A TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr3:49136038C>A ENST00000306125.6 - 20 2288 c.1951G>T c.(1951-1953)Gtc>Ttc p.V651F QARS_ENST00000414533.1_Missense_Mutation_p.V640F P47897 SYQ_HUMAN glutaminyl-tRNA synthetase 651 glutaminyl-tRNA aminoacylation cytosol|mitochondrial matrix ATP binding|glutamine-tRNA ligase activity|protein binding breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) L-Glutamine(DB00130) CTCACCTTGACAACATGCTGC 0.572000 27 104 9.04412e-07 9.42898e-07 1 1 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128812 45128812 + RNA SNP C C T TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr17:45128812C>T ENST00000575173.1 - 0 418 AGTCCTGTTTCTGTGTGGATT 0.373000 8 188 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137653805 137653805 + Missense_Mutation SNP C C T rs149912828 TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr9:137653805C>T ENST00000371817.3 + 19 2384 c.1970C>T c.(1969-1971)cCg>cTg p.P657L NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 657 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CCAGGACCTCCGGGAGACGAT 0.597000 48 321 0 0 1 0 0 SLC18A2 6571 broad.mit.edu 37 10 119029974 119029974 + Splice_Site SNP G G T TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr10:119029974G>T ENST00000298472.5 + 15 1583 c.1440_splice c.e15+1 p.M480_splice SLC18A2_ENST00000497497.1_3'UTR NM_003054.4 NP_003045.2 Q05940 VMAT2_HUMAN solute carrier family 18 (vesicular monoamine transporter), member 2 480 neurotransmitter secretion clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction monoamine transmembrane transporter activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16) 29 Colorectal(252;0.19) all cancers(201;0.029) Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844) AAGAAAAAATGGTAAGAAAAA 0.363000 70 340 7.46257e-40 8.31059e-40 1 1 0 ALDH16A1 126133 broad.mit.edu 37 19 49971707 49971707 + Missense_Mutation SNP G G T TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr19:49971707G>T ENST00000293350.4 + 15 2171 c.2008G>T c.(2008-2010)Gac>Tac p.D670Y ALDH16A1_ENST00000540132.1_Missense_Mutation_p.D507Y|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.D619Y|CTD-3148I10.9_ENST00000599536.1_Intron|ALDH16A1_ENST00000433981.2_Missense_Mutation_p.D505Y NM_153329.3 NP_699160.2 Q8IZ83 A16A1_HUMAN aldehyde dehydrogenase 16 family, member A1 670 oxidoreductase activity|protein binding cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3) 20 all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251) GGTGTGTCCGGACGAGTGGCC 0.697000 258 718 1.34946e-99 1.53776e-99 1 1 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661208 22661208 + RNA SNP C C T TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr22:22661208C>T ENST00000426066.1 + 0 300 NR_027293.1 CTGAATCATGCAGAATTTGAA 0.408000 21 231 0 0 1 0 0 ABCB1 5243 broad.mit.edu 37 7 87195527 87195527 + Silent SNP A A G TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr7:87195527A>G ENST00000265724.3 - 8 978 c.561T>C c.(559-561)ggT>ggC p.G187G ABCB1_ENST00000543898.1_Silent_p.G123G NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 187 ABC transmembrane type-1 1. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) CAATTTTGTCACCAATTCCTT 0.363000 91 401 0 0 1 0 0 INSR 0 broad.mit.edu 37 19 7117089 7117089 + Missense_Mutation SNP A A C TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr19:7117089A>C ENST00000341500.5 - 21 4130 c.4091T>G c.(4090-4092)tTg>tGg p.L1364W INSR_ENST00000302850.5_Missense_Mutation_p.L1376W NM_001079817.1 NP_001073285.1 P06213 INSR_HUMAN insulin receptor 1376 PIK3R1-binding. activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2) 66 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GGACCGAGGCAAGGTCAGAAT 0.567000 147 563 0 0 1 0 0 HMMR 3161 broad.mit.edu 37 5 162901193 162901193 + Silent SNP A A T TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr5:162901193A>T ENST00000416990.2 + 10 1187 c.690A>T c.(688-690)tcA>tcT p.S230S HMMR_ENST00000393915.4_Silent_p.S345S|HMMR_ENST00000358715.3_Silent_p.S344S|HMMR_ENST00000432118.2_Silent_p.S258S|HMMR_ENST00000353866.3_Silent_p.S329S O75330 HMMR_HUMAN hyaluronan-mediated motility receptor (RHAMM) 344 cell surface|cytoplasm hyaluronic acid binding cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 23 Renal(175;0.000281) Medulloblastoma(196;0.00853)|all_neural(177;0.0408) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848) AAATTGATTCACTTCTGCAAC 0.303000 25 170 0 0 1 0 0 FOXG1 2290 broad.mit.edu 37 14 29237195 29237195 + Missense_Mutation SNP A A G TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr14:29237195A>G ENST00000382535.3 + 2 1079 c.710A>G c.(709-711)aAg>aGg p.K237R FOXG1_ENST00000313071.4_Missense_Mutation_p.K237R P55316 FOXG1_HUMAN forkhead box G1 237 K -> M (in Ref. 5; AAH50072). axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex 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 breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2) 43 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) TCCCTCAACAAGTGCTTCGTG 0.587000 92 151 0 0 1 0 0 SDHAP1 0 broad.mit.edu 37 3 195711423 195711423 + RNA SNP A A G TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr3:195711423A>G ENST00000427841.1 - 0 524 NR_003264.2 CTCTTGTACTAGAAACAGACC 0.552000 8 172 0 0 1 0 0 CIC 23152 broad.mit.edu 37 19 42797190 42797190 + Silent SNP C C A TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr19:42797190C>A ENST00000572681.2 + 16 6341 c.6273C>A c.(6271-6273)atC>atA p.I2091I CIC_ENST00000160740.3_Silent_p.I1182I|CIC_ENST00000575354.2_Silent_p.I1184I Q96RK0 CIC_HUMAN capicua transcriptional repressor 1184 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) AGGCAGCCATCGCCAGCATTC 0.662000 """Mis, F, S""" oligodendroglioma 70 165 9.21137e-24 9.91993e-24 1 1 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S 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 13 229 0 0 1 0 0 ANXA7 310 broad.mit.edu 37 10 75156930 75156930 + Missense_Mutation SNP G G A TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr10:75156930G>A ENST00000372921.4 - 4 418 c.362C>T c.(361-363)cCa>cTa p.P121L ANXA7_ENST00000492380.1_5'UTR|ANXA7_ENST00000535178.1_Intron NM_001156.3 NP_001147.1 P20073 ANXA7_HUMAN annexin A7 121 Repeat-rich region. calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 26 Prostate(51;0.0119) ACCAGGTAGTGGAACCTGTGC 0.453000 40 88 0 0 1 0 0 LDLR 3949 broad.mit.edu 37 19 11242044 11242044 + Silent SNP G G A rs14158 byFrequency TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr19:11242044G>A ENST00000557933.1 + 18 2784 c.2697G>A c.(2695-2697)ccG>ccA p.P899P LDLR_ENST00000560628.1_Intron|LDLR_ENST00000545707.1_3'UTR|LDLR_ENST00000455727.2_3'UTR|LDLR_ENST00000558013.1_3'UTR|LDLR_ENST00000558518.1_3'UTR|LDLR_ENST00000535915.1_3'UTR P01130 LDLR_HUMAN low density lipoprotein receptor 0 cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524) GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197) Methyl aminolevulinate(DB00992)|Porfimer(DB00707) AGACCTCGCCGGCCTTGTTTT 0.507000 OREG0025249 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 313 0 0 1 0 0 FLRT2 23768 broad.mit.edu 37 14 86089365 86089365 + Missense_Mutation SNP G G A rs149005998 TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr14:86089365G>A ENST00000330753.4 + 2 2274 c.1507G>A c.(1507-1509)Gcg>Acg p.A503T FLRT2_ENST00000554746.1_Missense_Mutation_p.A503T NM_013231.4 NP_037363.1 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 503 Fibronectin type-III. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) TAACTACCGCGCGGTAGAAGA 0.537000 311 481 0 0 1 0 0 FUS 2521 broad.mit.edu 37 16 31200485 31200485 + Silent SNP C C T TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr16:31200485C>T ENST00000254108.7 + 9 979 c.874C>T c.(874-876)Ctg>Ttg p.L292L FUS_ENST00000568685.1_Silent_p.L293L|FUS_ENST00000474990.1_3'UTR|FUS_ENST00000380244.3_Silent_p.L291L NM_001170634.1|NM_001170937.1|NM_004960.3 NP_001164105.1|NP_001164408.1|NP_004951.1 P35637 FUS_HUMAN fused in sarcoma 292 RRM. cell death|nuclear mRNA splicing, via spliceosome nucleoplasm DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158) breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1) 22 Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121) GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209) TGTGCAAGGCCTGGGTGAGAA 0.388000 T """DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1""" """liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma""" 262 1088 0 0 1 0 0 SBF2 81846 broad.mit.edu 37 11 9853827 9853827 + Missense_Mutation SNP C C T TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr11:9853827C>T ENST00000256190.8 - 27 3733 c.3596G>A c.(3595-3597)gGa>gAa p.G1199E NM_030962.3 NP_112224.1 Q86WG5 MTMRD_HUMAN SET binding factor 2 1199 Myotubularin phosphatase. myelination cytoplasm|membrane phosphatase activity|protein binding breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887) CCCATGGAATCCTCCAGATCG 0.483000 75 226 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89971103 89971103 + Silent SNP C C T TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr5:89971103C>T ENST00000405460.2 + 24 5250 c.5154C>T c.(5152-5154)gaC>gaT p.D1718D GPR98_ENST00000450321.2_3'UTR NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 1718 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) AGCCTAAGGACGCAATGACCC 0.527000 22 173 0 0 1 0 0 DAB2 1601 broad.mit.edu 37 5 39383071 39383071 + Silent SNP C C T TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr5:39383071C>T ENST00000545653.1 - 9 1457 c.927G>A c.(925-927)ccG>ccA p.P309P DAB2_ENST00000509337.1_Silent_p.P309P|DAB2_ENST00000339788.6_Intron|DAB2_ENST00000320816.6_Silent_p.P330P NM_001244871.1 NP_001231800.1 P98082 DAB2_HUMAN Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila) 330 cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway clathrin coated vesicle membrane|coated pit protein C-terminus binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 47 all_lung(31;0.000197) Epithelial(62;0.137) CATTACTCAGCGGAGTAGACG 0.483000 97 485 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661187 22661187 + RNA SNP G G A TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr22:22661187G>A ENST00000426066.1 + 0 279 NR_027293.1 CCCCCACCCCGTCATGTACAG 0.413000 18 147 0 0 1 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 28 286 0 0 1 0 0 ESPNP 0 broad.mit.edu 37 1 17046595 17046595 + RNA SNP T T C rs3856293 by1000genomes TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr1:17046595T>C ENST00000492551.1 - 0 57 NR_026567.1 TTCACCACCTTGGGGTGGCCA 0.592000 14 324 0 0 1 0 0 LYZL4 131375 broad.mit.edu 37 3 42448399 42448399 + Missense_Mutation SNP C C A TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr3:42448399C>A ENST00000287748.3 - 3 506 c.231G>T c.(229-231)caG>caT p.Q77H LYZL4_ENST00000470991.1_5'UTR|LYZL4_ENST00000441172.1_Missense_Mutation_p.Q77H NM_144634.2 NP_653235.1 Q96KX0 LYZL4_HUMAN lysozyme-like 4 77 cell wall macromolecule catabolic process extracellular region lysozyme activity central_nervous_system(1)|endometrium(1)|lung(1) 3 KIRC - Kidney renal clear cell carcinoma(284;0.222) TGCCACGCATCTGAAAGAGGC 0.577000 70 224 2.72615e-36 3.00183e-36 1 1 0 ZNF99 7652 broad.mit.edu 37 19 22940448 22940448 + Missense_Mutation SNP G G T TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr19:22940448G>T ENST00000397104.3 - 5 1989 c.1990C>A c.(1990-1992)Cat>Aat p.H664N ZNF99_ENST00000596209.1_Missense_Mutation_p.H755N zinc finger protein 99 p.H664D(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TCTGCAGTATGAATTACCTTA 0.353000 47 264 1.56989e-16 1.67228e-16 1 1 0 BCL11B 64919 broad.mit.edu 37 14 99640770 99640770 + Silent SNP G G A TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr14:99640770G>A ENST00000345514.2 - 3 2456 c.2190C>T c.(2188-2190)tgC>tgT p.C730C BCL11B_ENST00000357195.3_Silent_p.C801C|BCL11B_ENST00000443726.2_Silent_p.C607C NM_022898.1 NP_075049.1 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B (zinc finger protein) 801 nucleus zinc ion binding NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) ACACCTTGCCGCAGTACTCGC 0.721000 T TLX3 T-ALL 27 103 0 0 1 0 0 CNTD2 79935 broad.mit.edu 37 19 40729348 40729348 + Missense_Mutation SNP C C A TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr19:40729348C>A ENST00000430325.2 - 4 667 c.619G>T c.(619-621)Ggc>Tgc p.G207C CNTD2_ENST00000513948.1_Missense_Mutation_p.G101C NM_024877.3 NP_079153.2 B4DX65 B4DX65_HUMAN cyclin N-terminal domain containing 2 207 regulation of cyclin-dependent protein kinase activity protein kinase binding lung(1)|prostate(1) 2 AGCAGCGGGCCGGGGTGGTGC 0.726000 31 90 6.38683e-12 6.73021e-12 1 1 0 SUGT1 10910 broad.mit.edu 37 13 53254258 53254258 + Missense_Mutation SNP G G C TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr13:53254258G>C ENST00000535397.1 + 13 1073 c.700G>C c.(700-702)Gat>Cat p.D234H SUGT1_ENST00000343788.6_Missense_Mutation_p.D322H|SUGT1_ENST00000310528.7_Missense_Mutation_p.D290H Q9Y2Z0 SUGT1_HUMAN SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae) 322 CS. mitosis kinetochore|ubiquitin ligase complex binding kidney(3)|large_intestine(3)|lung(2) 8 Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.25e-08) AGATGGTTCTGATGAAGTGAA 0.313000 260 252 0 0 1 0 0 PDE10A 10846 broad.mit.edu 37 6 165809905 165809905 + Missense_Mutation SNP G G A TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr6:165809905G>A ENST00000366882.1 - 15 1446 c.1292C>T c.(1291-1293)aCg>aTg p.T431M PDE10A_ENST00000539869.2_Missense_Mutation_p.T441M|PDE10A_ENST00000354448.4_Missense_Mutation_p.T431M Q9Y233 PDE10_HUMAN phosphodiesterase 10A 431 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding p.T431M(1) breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 71 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) CTTTTCCATCGTTACCCGGTA 0.393000 165 436 0 0 1 0 0 ZMIZ2 83637 broad.mit.edu 37 7 44801069 44801069 + Missense_Mutation SNP T T G TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr7:44801069T>G ENST00000309315.4 + 10 1385 c.1262T>G c.(1261-1263)tTg>tGg p.L421W ZMIZ2_ENST00000441627.1_Missense_Mutation_p.L421W|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.L389W|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.L363W|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.L395W NM_031449.3 NP_113637.3 Q8NF64 ZMIZ2_HUMAN zinc finger, MIZ-type containing 2 421 positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear replication fork ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 TGTGACGAGTTGCGGCTGACC 0.637000 56 280 0 0 1 0 0 CDK14 5218 broad.mit.edu 37 7 90356126 90356126 + Splice_Site SNP G G C rs55722725 TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr7:90356126G>C ENST00000406263.1 + 2 673 c.231_splice c.e2+1 p.S77_splice CDK14_ENST00000380050.3_Splice_Site_p.S123_splice|CDK14_ENST00000436577.2_Splice_Site_p.R26_splice|CDK14_ENST00000265741.3_Splice_Site_p.S105_splice O94921 CDK14_HUMAN cyclin-dependent kinase 14 123 cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane ATP binding|cyclin binding|cyclin-dependent protein kinase activity breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4) 32 GCCCCAGCTCGGTAAGTGCAG 0.463000 199 306 0 0 1 0 0 LMX1B 4010 broad.mit.edu 37 9 129455511 129455511 + Missense_Mutation SNP G G A TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr9:129455511G>A ENST00000355497.5 + 4 657 c.650G>A c.(649-651)cGg>cAg p.R217Q LMX1B_ENST00000373474.4_Missense_Mutation_p.R217Q|LMX1B_ENST00000425646.2_Missense_Mutation_p.R194Q|LMX1B_ENST00000526117.1_Missense_Mutation_p.R217Q|LMX1B_ENST00000561065.1_Missense_Mutation_p.R194Q NM_001174146.1 NP_001167617.1 O60663 LMX1B_HUMAN LIM homeobox transcription factor 1, beta 194 dorsal/ventral pattern formation|in utero embryonic development nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 15 AAGGACCCGCGGAGGCCCAAG 0.652000 Nail-Patella Syndrome 7 81 0 0 1 0 0 SIRPB1 10326 broad.mit.edu 37 20 1585397 1585397 + Missense_Mutation SNP T T C rs148754551 by1000genomes TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr20:1585397T>C ENST00000279477.7 - 3 806 c.742A>G c.(742-744)Acc>Gcc p.T248A SIRPB1_ENST00000381603.3_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|SIRPB1_ENST00000381605.4_Intron NM_001135844.2 NP_001129316.1 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 248 cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding p.T248A(5) central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 CCTCGGATGGTCTCAGACAAG 0.627000 22 232 0 0 1 0 0 CWH43 80157 broad.mit.edu 37 4 49019292 49019292 + Silent SNP T T C TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr4:49019292T>C ENST00000226432.4 + 9 1396 c.1213T>C c.(1213-1215)Ttg>Ctg p.L405L CWH43_ENST00000513409.1_Silent_p.L378L NM_025087.2 NP_079363.2 Q9H720 PG2IP_HUMAN cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) 405 GPI anchor biosynthetic process integral to membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 TGGTGTGGGATTGTTGGGATT 0.308000 78 219 0 0 1 0 0 ARMCX1 51309 broad.mit.edu 37 X 100808322 100808322 + Missense_Mutation SNP A A G TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chrX:100808322A>G ENST00000372829.3 + 4 780 c.409A>G c.(409-411)Acc>Gcc p.T137A NM_016608.1 NP_057692.1 Q9P291 ARMX1_HUMAN armadillo repeat containing, X-linked 1 137 integral to membrane binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1) 19 TGGGAACAGGACCCTTGCACC 0.612000 101 262 0 0 1 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971120 21971120 + Nonsense_Mutation SNP G G A rs121913388 TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr9:21971120G>A ENST00000304494.5 - 2 508 c.238C>T c.(238-240)Cga>Tga p.R80* CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80* NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 80 R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(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) TGCACGGGTCGGGTGAGAGTG 0.726000 R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN) 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 38 50 0 0 1 0 0 GPRC5B 0 broad.mit.edu 37 16 19883256 19883256 + Silent SNP C C T TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr16:19883256C>T ENST00000300571.2 - 2 1103 c.912G>A c.(910-912)acG>acA p.T304T GPRC5B_ENST00000535671.1_Silent_p.T304T|GPRC5B_ENST00000537135.1_Silent_p.T330T|GPRC5B_ENST00000569479.1_Silent_p.T304T|GPRC5B_ENST00000569847.1_Silent_p.T304T NM_016235.1 NP_057319.1 Q9NZH0 GPC5B_HUMAN G protein-coupled receptor, family C, group 5, member B 304 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 AGTAGTTGGGCGTGTTCTCCT 0.637000 66 321 0 0 1 0 0 ZNF675 171392 broad.mit.edu 37 19 23836431 23836431 + Missense_Mutation SNP C C T TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr19:23836431C>T ENST00000359788.4 - 4 1472 c.1304G>A c.(1303-1305)cGa>cAa p.R435Q ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000596211.1_Intron NM_138330.2 NP_612203.2 Q8TD23 ZN675_HUMAN zinc finger protein 675 435 bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) TTTTGAGGATCGGTTAAAAGC 0.378000 140 216 0 0 1 0 0 CDH11 1009 broad.mit.edu 37 16 64984898 64984898 + Missense_Mutation SNP G G A rs147033764 TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr16:64984898G>A ENST00000394156.3 - 12 2119 c.1666C>T c.(1666-1668)Cgg>Tgg p.R556W CDH11_ENST00000566827.1_Missense_Mutation_p.R430W|CDH11_ENST00000268603.4_Missense_Mutation_p.R556W P55287 CAD11_HUMAN cadherin 11, type 2, OB-cadherin (osteoblast) 556 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2) 88 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) CCTCCACGCCGGGCGTACACG 0.592000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 39 204 0 0 1 0 0 MAST2 23139 broad.mit.edu 37 1 46494559 46494559 + Frame_Shift_Del DEL T T - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr1:46494559delT ENST00000361297.2 + 18 2455 c.2172delT c.(2170-2172)ccfs p.P724fs MAST2_ENST00000372009.2_Frame_Shift_Del_p.P654fs|MAST2_ENST00000372008.1_Frame_Shift_Del_p.P609fs NM_015112.2 NP_055927.2 Q6P0Q8 MAST2_HUMAN microtubule associated serine/threonine kinase 2 724 Protein kinase. regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity breast(1)|lung(3)|ovary(5)|stomach(2) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) GCTGCGTCCCTTTTTTTGGAG 0.552 7 1135 --- --- --- --- CYP4Z2P 0 broad.mit.edu 37 1 47325282 47325282 + RNA DEL A A - rs10712628 TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr1:47325282delA ENST00000505841.1 - 0 1204 NR_002788.2 ATTTCAATCCAAACATAGCTG 0.393 10 158 --- --- --- --- CCDC18 343099 broad.mit.edu 37 1 93667515 93667516 + Frame_Shift_Ins INS - - A TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr1:93667515_93667516insA ENST00000343253.7 + 7 1267_1268 c.765_766insA c.(763-768)taaaaafs p.*K255fs CCDC18_ENST00000338949.4_Frame_Shift_Ins_p.*K54fs|CCDC18_ENST00000401026.3_Frame_Shift_Ins_p.*K255fs|CCDC18_ENST00000557479.1_Frame_Shift_Ins_p.*K373fs|CCDC18_ENST00000334652.5_5'UTR Q5T9S5 CCD18_HUMAN coiled-coil domain containing 18 255 p.V377fs*15(1) 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) TCCAACAATATAAAAAAAAAGT 0.317 11 214 --- --- --- --- RP11-343N15.1 0 broad.mit.edu 37 1 121137791 121137793 + RNA DEL CCA CCA - rs28552466 by1000genomes TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr1:121137791_121137793delCCA ENST00000437515.1 - 0 329 ATTTCGCCCTCCACCGCCGCCGC 0.631 13 74 --- --- --- --- MCL1 4170 broad.mit.edu 37 1 150551492 150551494 + In_Frame_Del DEL TCC TCC - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr1:150551492_150551494delTCC ENST00000369026.2 - 1 572_574 c.513_515delGGA c.(511-516)gac>ga p.ED171del MCL1_ENST00000307940.3_In_Frame_Del_p.ED171del NM_001197320.1|NM_021960.4 NP_001184249.1|NP_068779.1 Q07820 MCL1_HUMAN myeloid cell leukemia sequence 1 (BCL2-related) 171 PEST-like. anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus integral to membrane|mitochondrial outer membrane|nucleoplasm BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity endometrium(2)|large_intestine(1)|lung(4)|prostate(1) 8 all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) GTACAACTCGTCCTCCTCCTCCT 0.635 13 572 --- --- --- --- NOS1AP 9722 broad.mit.edu 37 1 162326888 162326890 + In_Frame_Del DEL CAG CAG - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 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 8 442 --- --- --- --- SCYL3 57147 broad.mit.edu 37 1 169833511 169833511 + Splice_Site DEL T T - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr1:169833511delT ENST00000367772.4 - 9 1151 c.955_splice c.e9+1 p.K318_splice SCYL3_ENST00000470238.1_5'UTR|SCYL3_ENST00000367771.5_Splice_Site_p.K318_splice|SCYL3_ENST00000367770.1_Splice_Site_p.K318_splice NM_181093.3 NP_851607.2 Q8IZE3 PACE1_HUMAN SCY1-like 3 (S. cerevisiae) 318 cell migration Golgi apparatus|lamellipodium ATP binding|protein binding|protein kinase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) AGCATTCACCTTTTTTGGGGC 0.393 7 737 --- --- --- --- GPR37L1 9283 broad.mit.edu 37 1 202097525 202097527 + In_Frame_Del DEL CTG CTG - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr1:202097525_202097527delCTG ENST00000367282.4 + 2 1393_1395 c.1287_1289delCTG c.(1285-1290)gac>ga p.DC429del NM_004767.3 NP_004758.3 O60883 ETBR2_HUMAN G protein-coupled receptor 37 like 1 429 Cys-rich. integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2) 18 CCTTCCTGGActgctgctgctgc 0.626 8 204 --- --- --- --- ASXL2 55252 broad.mit.edu 37 2 26022304 26022306 + In_Frame_Del DEL CTG CTG - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr2:26022304_26022306delCTG ENST00000435504.4 - 5 644_646 c.351_353delCAG c.(349-354)agt>ag p.SS117del ASXL2_ENST00000336112.4_In_Frame_Del_p.SS89del|ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000497092.1_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 10 917 --- --- --- --- C2orf71 388939 broad.mit.edu 37 2 29295647 29295649 + In_Frame_Del DEL TCC TCC - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr2:29295647_29295649delTCC ENST00000331664.5 - 1 1478_1480 c.1479_1481delGGA c.(1477-1482)gaa>ga p.EE493del NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 493 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 CATTTTGTCTTCCTCCTCCTCCT 0.542 8 1004 --- --- --- --- PSME4 23198 broad.mit.edu 37 2 54093344 54093345 + Frame_Shift_Ins INS - - T TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr2:54093344_54093345insT ENST00000404125.1 - 46 5468_5469 c.5413_5414insA c.(5413-5415)cttfs p.L1805fs PSME4_ENST00000476586.1_5'UTR|PSME4_ENST00000421748.2_Frame_Shift_Ins_p.L949fs NM_014614.2 NP_055429.2 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator subunit 4 1805 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding p.T1691fs*>39(1) breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2) 60 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) ATTGGATAAGGTTTTTTTTACA 0.401 8 876 --- --- --- --- AC007092.1 0 broad.mit.edu 37 2 58688842 58688843 + RNA DEL CT CT - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr2:58688842_58688843delCT ENST00000452840.1 + 0 127 TCTCTGCTAGCTCTCTCTCTCT 0.465 8 293 --- --- --- --- AC074391.1 0 broad.mit.edu 37 2 65738863 65738863 + RNA DEL G G - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr2:65738863delG ENST00000377977.3 + 0 862 TTTTTTTTTTGTCCAGGAGGC 0.303 13 20 --- --- --- --- IGKV1D-8 0 broad.mit.edu 37 2 90259860 90259861 + RNA INS - - C TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr2:90259860_90259861insC ENST00000471857.1 + 0 236 AATTTACTCAGCCAATGTGCTC 0.480 10 919 --- --- --- --- MRPS5 64969 broad.mit.edu 37 2 95775728 95775728 + Frame_Shift_Del DEL T T - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr2:95775728delT ENST00000272418.2 - 4 544 c.336delA c.(334-336)aafs p.K112fs NM_031902.3 NP_114108.1 P82675 RT05_HUMAN mitochondrial ribosomal protein S5 112 translation mitochondrion|ribosome protein binding|RNA binding|structural constituent of ribosome central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 20 TGCCTCTTCCTTTTTTTGCTC 0.383 9 929 --- --- --- --- ITPRIPL1 150771 broad.mit.edu 37 2 96992793 96992795 + In_Frame_Del DEL GAG GAG - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr2:96992793_96992795delGAG ENST00000361124.4 + 1 859_861 c.448_450delGAG c.(448-450)del p.E155del ITPRIPL1_ENST00000439118.2_In_Frame_Del_p.E147del|ITPRIPL1_ENST00000542887.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del NM_178495.5 NP_848590.3 Q6GPH6 IPIL1_HUMAN inositol 1,4,5-trisphosphate receptor interacting protein-like 1 147 integral to membrane breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TTCCAGCAGTGAGGAGGAGGAGG 0.532 9 509 --- --- --- --- TMEM131 23505 broad.mit.edu 37 2 98427639 98427639 + Frame_Shift_Del DEL T T - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr2:98427639delT ENST00000186436.5 - 18 2148 c.1920delA c.(1918-1920)aafs p.K640fs NM_015348.1 NP_056163.1 Q92545 TM131_HUMAN transmembrane protein 131 640 integral to membrane NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1) 57 TCCCCTCTAATTTTTTTGCAG 0.393 11 1565 --- --- --- --- IL1R2 7850 broad.mit.edu 37 2 102638648 102638649 + Splice_Site INS - - A TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr2:102638648_102638649insA ENST00000332549.3 + 6 917_918 c.e6-1 IL1R2_ENST00000393414.2_Splice_Site|IL1R2_ENST00000441002.1_Splice_Site NM_004633.3 NP_004624.1 P27930 IL1R2_HUMAN interleukin 1 receptor, type II immune response integral to membrane|plasma membrane interleukin-1, Type II, blocking receptor activity breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1) 28 Anakinra(DB00026) ATCTTTCTCAGAAAAAAAAGAA 0.441 8 908 --- --- --- --- SLC9A4 389015 broad.mit.edu 37 2 103149137 103149137 + Frame_Shift_Del DEL A A - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr2:103149137delA ENST00000295269.4 + 12 2844 c.2387delA c.(2386-2388)cafs p.Q796fs NM_001011552.3 NP_001011552.2 Q6AI14 SL9A4_HUMAN solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 796 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 CCTTTGCTCCAAAAAAAATAG 0.473 10 233 --- --- --- --- SULT1C3 442038 broad.mit.edu 37 2 108863685 108863685 + Frame_Shift_Del DEL A A - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr2:108863685delA ENST00000329106.2 + 1 35 c.35delA c.(34-36)gafs p.E12fs SULT1C3_ENST00000376700.1_Frame_Shift_Del_p.E12fs NM_001008743.1 NP_001008743.1 Q6IMI6 ST1C3_HUMAN sulfotransferase family, cytosolic, 1C, member 3 12 cytoplasm alcohol sulfotransferase activity breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4) 16 CCCACGATGGAAAAAAAGCCA 0.353 10 700 --- --- --- --- RANBP2 5903 broad.mit.edu 37 2 109380485 109380487 + In_Frame_Del DEL GAT GAT - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr2:109380485_109380487delGAT ENST00000283195.6 + 20 3616_3618 c.3490_3492delGAT c.(3490-3492)del p.D1168del NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 1168 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 TGCCCATGGGGATGATGATGATG 0.424 8 961 --- --- --- --- SCN9A 6335 broad.mit.edu 37 2 167055992 167055992 + Frame_Shift_Del DEL T T - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr2:167055992delT ENST00000375387.4 - 27 5500 c.5160delA c.(5158-5160)aafs p.K1720fs SCN9A_ENST00000409672.1_Frame_Shift_Del_p.K1708fs|SCN9A_ENST00000409435.1_Frame_Shift_Del_p.K1719fs|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Frame_Shift_Del_p.K1720fs Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 1719 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) CAGGATGAACTTTTTTTGGGT 0.423 10 1952 --- --- --- --- RBM45 129831 broad.mit.edu 37 2 178988920 178988920 + Frame_Shift_Del DEL A A - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr2:178988920delA ENST00000286070.5 + 8 1227 c.1135delA c.(1135-1137)aafs p.K381fs NM_152945.2 NP_694453.2 Q8IUH3 RBM45_HUMAN RNA binding motif protein 45 383 cell differentiation|nervous system development cytoplasm|nucleus nucleotide binding|RNA binding p.A382fs*7(2)|p.?(1) endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037) TCCATCATGCAAAAAAAAAGC 0.353 9 582 --- --- --- --- ANKRD44 91526 broad.mit.edu 37 2 197943383 197943384 + Frame_Shift_Del DEL TG TG - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr2:197943383_197943384delTG ENST00000409153.1 - 16 1875_1876 c.1693_1694delCA c.(1693-1695)tfs p.H565fs ANKRD44_ENST00000282272.8_Intron|ANKRD44_ENST00000328737.2_Intron|ANKRD44_ENST00000337207.5_Intron|ANKRD44_ENST00000539527.1_Frame_Shift_Del_p.H493fs|ANKRD44_ENST00000450567.1_Intron Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 811 protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.246) ATTTGGGGTATGTGTGTGTGTG 0.411 8 84 --- --- --- --- ALS2CR11 151254 broad.mit.edu 37 2 202352352 202352352 + Frame_Shift_Del DEL T T - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr2:202352352delT ENST00000439140.1 - 16 5490 c.5446delA c.(5446-5448)ttfs p.I1816fs ALS2CR11_ENST00000439802.1_3'UTR|ALS2CR11_ENST00000286195.3_Frame_Shift_Del_p.I619fs NM_001168221.1 NP_001161693.1 Q53TS8 AL2SA_HUMAN amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 619 NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3) 33 CCTCTTTTAATTTTTTTTGGC 0.323 9 560 --- --- --- --- ZDBF2 57683 broad.mit.edu 37 2 207174869 207174869 + Frame_Shift_Del DEL A A - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr2:207174869delA ENST00000374423.3 + 5 6003 c.5617delA c.(5617-5619)aafs p.K1875fs NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 1875 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 TTCGAAGGGGAAAAAAAAGGT 0.413 7 262 --- --- --- --- IKZF2 22807 broad.mit.edu 37 2 214012392 214012393 + Frame_Shift_Del DEL AC AC - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr2:214012392_214012393delAC ENST00000442445.1 - 3 253_254 c.196_197delGT c.(196-198)cfs p.V66fs IKZF2_ENST00000413091.3_Intron|IKZF2_ENST00000374319.4_Intron|IKZF2_ENST00000434687.1_Intron|IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000451136.2_Intron|IKZF2_ENST00000421754.2_Intron|IKZF2_ENST00000342002.2_Intron|IKZF2_ENST00000457361.1_Intron Q9UKS7 IKZF2_HUMAN IKAROS family zinc finger 2 (Helios) 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Esophageal squamous(248;0.0559)|Renal(323;0.218) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792) TGCTGGAGAGACACACACACAC 0.401 15 550 --- --- --- --- EFHD1 80303 broad.mit.edu 37 2 233546363 233546365 + In_Frame_Del DEL GGA GGA - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr2:233546363_233546365delGGA ENST00000264059.3 + 4 1131_1133 c.654_656delGGA c.(652-657)cgg>cg p.RE218del EFHD1_ENST00000410095.1_In_Frame_Del_p.RE106del|EFHD1_ENST00000409613.1_In_Frame_Del_p.RE122del|EFHD1_ENST00000409708.1_In_Frame_Del_p.RE106del NM_025202.3 NP_079478.1 Q9BUP0 EFHD1_HUMAN EF-hand domain family, member D1 218 calcium ion binding|protein binding NS(1)|breast(1)|large_intestine(2)|lung(3) 7 all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025) Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101) AGCGGAAGCGGGAGGAGGAGGAG 0.547 7 658 --- --- --- --- EDEM1 9695 broad.mit.edu 37 3 5248941 5248941 + Frame_Shift_Del DEL T T - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr3:5248941delT ENST00000256497.4 + 7 1454 c.1321delT c.(1321-1323)ttfs p.F442fs EDEM1_ENST00000445686.1_Frame_Shift_Del_p.F247fs NM_014674.2 NP_055489.1 Q92611 EDEM1_HUMAN ER degradation enhancer, mannosidase alpha-like 1 442 ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein integral to endoplasmic reticulum membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682) TCTGCAGGCCTTTTTCCCTGG 0.463 8 632 --- --- --- --- TMEM40 55287 broad.mit.edu 37 3 12790198 12790200 + In_Frame_Del DEL GAG GAG - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr3:12790198_12790200delGAG ENST00000314124.7 - 3 521_523 c.165_167delCTC c.(163-168)tct>tc p.SS69del TMEM40_ENST00000264728.8_In_Frame_Del_p.SS69del|TMEM40_ENST00000435575.1_Intron|TMEM40_ENST00000435218.2_In_Frame_Del_p.SS69del|TMEM40_ENST00000431022.2_In_Frame_Del_p.SS85del NM_018306.2 NP_060776.2 Q8WWA1 TMM40_HUMAN transmembrane protein 40 69 Ser-rich. integral to membrane breast(1)|large_intestine(3)|lung(5)|urinary_tract(1) 10 tgaggaggaagaggaggaggagg 0.419 7 875 --- --- --- --- SGOL1 151648 broad.mit.edu 37 3 20216049 20216050 + Frame_Shift_Ins INS - - T TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr3:20216049_20216050insT ENST00000412997.1 - 6 1324_1325 c.973_974insA c.(973-975)gcafs p.A325fs SGOL1_ENST00000421451.1_Frame_Shift_Ins_p.A325fs|SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000437051.1_Intron|SGOL1_ENST00000429446.3_Intron|SGOL1_ENST00000425061.1_Intron|SGOL1_ENST00000412868.1_Frame_Shift_Ins_p.A325fs|SGOL1_ENST00000263753.4_Frame_Shift_Ins_p.A325fs|SGOL1_ENST00000442720.1_Intron|SGOL1_ENST00000417364.1_Intron|SGOL1_ENST00000419233.2_Intron|SGOL1_ENST00000443724.1_Intron|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000306698.2_Intron|SGOL1_ENST00000383774.1_Intron|SGOL1-AS1_ENST00000448208.1_RNA NM_001199251.1 NP_001186180.1 Q5FBB7 SGOL1_HUMAN shugoshin-like 1 (S. pombe) 325 attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole protein binding kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2) 14 AGATTTGTGCATTTTTTTTTGG 0.317 9 215 --- --- --- --- CLASP2 23122 broad.mit.edu 37 3 33602361 33602361 + Frame_Shift_Del DEL T T - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr3:33602361delT ENST00000399362.4 - 28 3243 c.2890delA c.(2890-2892)tgfs p.M964fs CLASP2_ENST00000539981.1_Frame_Shift_Del_p.M734fs|CLASP2_ENST00000468888.2_Frame_Shift_Del_p.M965fs|CLASP2_ENST00000359576.5_Frame_Shift_Del_p.M956fs|CLASP2_ENST00000461133.3_Frame_Shift_Del_p.M724fs|CLASP2_ENST00000307312.7_Frame_Shift_Del_p.M446fs|CLASP2_ENST00000480013.1_Frame_Shift_Del_p.M744fs NM_015097.2 NP_055912.2 B2RTR1 B2RTR1_HUMAN cytoplasmic linker associated protein 2 966 breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 48 TCAGCACCCATTTTTTTTAGT 0.343 13 658 --- --- --- --- DLEC1 9940 broad.mit.edu 37 3 38162039 38162040 + Frame_Shift_Del DEL GA GA - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr3:38162039_38162040delGA ENST00000308059.6 + 34 4826_4827 c.4805_4806delGA c.(4804-4806)gfs p.G1602fs DLEC1_ENST00000346219.3_Frame_Shift_Del_p.G1602fs|DLEC1_ENST00000452631.2_Frame_Shift_Del_p.G1605fs Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 1602 negative regulation of cell proliferation cytoplasm NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) AGTGCGAGTGGAGAGAGAGAGA 0.579 7 298 --- --- --- --- FOXP1 27086 broad.mit.edu 37 3 71247357 71247359 + In_Frame_Del DEL TGC TGC - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr3:71247357_71247359delTGC ENST00000318789.4 - 6 699_701 c.174_176delGCA c.(172-177)caa>ca p.QQ58del FOXP1_ENST00000484350.1_In_Frame_Del_p.QQ58del|FOXP1_ENST00000318779.3_In_Frame_Del_p.QQ58del|FOXP1_ENST00000468577.1_In_Frame_Del_p.QQ58del|FOXP1_ENST00000498215.1_In_Frame_Del_p.QQ58del|FOXP1_ENST00000475937.1_In_Frame_Del_p.QQ58del|FOXP1_ENST00000493089.1_In_Frame_Del_p.QQ58del NM_001244810.1|NM_001244813.1|NM_032682.5 NP_001231739.1|NP_001231742.1|NP_116071.2 Q9H334 FOXP1_HUMAN forkhead box P1 58 Gln-rich. cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) CAGTACCTGTTGCTGCTGCTGCT 0.586 T PAX5 ALL 8 506 --- --- --- --- VGLL3 389136 broad.mit.edu 37 3 87027857 87027859 + In_Frame_Del DEL CTC CTC - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr3:87027857_87027859delCTC ENST00000398399.2 - 2 583_585 c.220_222delGAG c.(220-222)del p.E74del VGLL3_ENST00000383698.3_In_Frame_Del_p.E74del NM_016206.2 NP_057290.2 A8MV65 VGLL3_HUMAN vestigial like 3 (Drosophila) 74 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11) 19 all_cancers(8;0.109)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) GCTGGtctttctcctcctcctcc 0.502 7 259 --- --- --- --- SDHAP1 0 broad.mit.edu 37 3 195713385 195713386 + RNA INS - - T TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr3:195713385_195713386insT ENST00000427841.1 - 0 176 NR_003264.2 AAAGCATGAACTTACGGAATCT 0.401 22 61 --- --- --- --- OTOP1 133060 broad.mit.edu 37 4 4204225 4204229 + Frame_Shift_Del DEL TTGAG TTGAG - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr4:4204225_4204229delTTGAG ENST00000296358.4 - 4 700_704 c.676_680delCTCAA c.(676-681)tfs p.LN226fs NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 226 biomineral tissue development extracellular space|integral to membrane p.L226fs*1(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CTTGTGCTCATTGAGTTGGTGCTTT 0.502 7 555 --- --- --- --- PROM1 8842 broad.mit.edu 37 4 15995680 15995680 + Frame_Shift_Del DEL T T - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr4:15995680delT ENST00000505450.1 - 15 2282 c.1670delA c.(1669-1671)atfs p.N557fs PROM1_ENST00000543373.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000447510.2_Frame_Shift_Del_p.N566fs|PROM1_ENST00000540805.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000539194.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000508167.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000510224.1_Frame_Shift_Del_p.N566fs NM_001145848.1 NP_001139320.1 O43490 PROM1_HUMAN prominin 1 566 camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane beta-actinin binding|cadherin binding breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2) 35 AGTGCCTCTATTTTTTTTGCA 0.428 12 416 --- --- --- --- GABRG1 2565 broad.mit.edu 37 4 46060358 46060358 + Frame_Shift_Del DEL A A - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr4:46060358delA ENST00000295452.4 - 7 959 c.792delT c.(790-792)ttfs p.F264fs NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 264 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity p.F264fs*3(1) breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) TGCTCAGGTCAAAAAAAATTG 0.294 8 363 --- --- --- --- CXXC4 80319 broad.mit.edu 37 4 105412465 105412467 + In_Frame_Del DEL GCC GCC - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr4:105412465_105412467delGCC ENST00000394767.2 - 2 943_945 c.493_495delGGC c.(493-495)del p.G165del CXXC4_ENST00000466963.1_Intron|CXXC4_ENST00000426831.1_5'UTR|AC004053.1_ENST00000500179.1_RNA NM_025212.2 NP_079488.2 Q9H2H0 CXXC4_HUMAN CXXC finger protein 4 0 Interaction with DVL1 (By similarity). negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis DNA binding|PDZ domain binding|zinc ion binding kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(123;3.05e-08) TGGTCCTgctgccgccgccgccg 0.695 9 360 --- --- --- --- MAML3 55534 broad.mit.edu 37 4 140810639 140810641 + In_Frame_Del DEL GCT GCT - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr4:140810639_140810641delGCT ENST00000509479.2 - 2 2805_2807 c.1949_1951delAGC c.(1948-1953)ccg>c p.QP650del MAML3_ENST00000327122.5_In_Frame_Del_p.QP494del|MAML3_ENST00000398940.1_In_Frame_Del_p.QP178del NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 646 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) GGAGGTGGCGgctgctgctgctg 0.586 9 297 --- --- --- --- RP11-73G16.1 0 broad.mit.edu 37 4 152880686 152880688 + RNA DEL TGC TGC - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr4:152880686_152880688delTGC ENST00000515329.1 + 0 266 CACctgctgttgctgctgctgct 0.542 2 4 --- --- --- --- SORBS2 8470 broad.mit.edu 37 4 186544620 186544622 + In_Frame_Del DEL GGT GGT - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr4:186544620_186544622delGGT ENST00000431808.1 - 14 2512_2514 c.1949_1951delACC c.(1948-1953)cgc>c p.HR650del SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000284776.7_In_Frame_Del_p.HR650del|SORBS2_ENST00000418609.1_In_Frame_Del_p.HR554del|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_In_Frame_Del_p.HR750del|SORBS2_ENST00000319471.9_Intron O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 650 His-rich. actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) ATGAggtggcggtggtggtggtg 0.522 7 302 --- --- --- --- C6 729 broad.mit.edu 37 5 41160299 41160300 + Frame_Shift_Del DEL AC AC - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr5:41160299_41160300delAC ENST00000263413.3 - 11 1892_1893 c.1628_1629delGT c.(1627-1629)tfs p.C543fs C6_ENST00000337836.5_Frame_Shift_Del_p.C543fs NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 543 EGF-like. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) TGCCACTCTGACACACACACAG 0.475 10 854 --- --- --- --- RAPGEF6 51735 broad.mit.edu 37 5 130782332 130782332 + Frame_Shift_Del DEL T T - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr5:130782332delT ENST00000509018.1 - 22 3470 c.3265delA c.(3265-3267)ggfs p.R1089fs RAPGEF6_ENST00000308008.6_Frame_Shift_Del_p.R1089fs|FNIP1_ENST00000514667.1_Frame_Shift_Del_p.R1139fs|RAPGEF6_ENST00000512052.1_Frame_Shift_Del_p.R812fs|RAPGEF6_ENST00000507093.1_Frame_Shift_Del_p.R1097fs|RAPGEF6_ENST00000307984.5_Frame_Shift_Del_p.R1102fs|RAPGEF6_ENST00000296859.6_Frame_Shift_Del_p.R1097fs NM_001164386.1|NM_016340.5 NP_001157858.1|NP_057424.3 Q8TEU7 RPGF6_HUMAN Rap guanine nucleotide exchange factor (GEF) 6 1089 Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction cytoplasm|plasma membrane GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1) 31 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0721) CGGCGTGCCCTTTTTTTGTGA 0.453 7 963 --- --- --- --- SLC22A4 6583 broad.mit.edu 37 5 131676327 131676327 + Frame_Shift_Del DEL T T - rs72552721 TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr5:131676327delT ENST00000200652.3 + 9 1688 c.1514delT c.(1513-1515)ctfs p.L505fs AC034220.3_ENST00000437091.1_RNA|AC034220.3_ENST00000417795.1_RNA NM_003059.2 NP_003050.2 Q9H015 S22A4_HUMAN solute carrier family 22 (organic cation/zwitterion transporter), member 4 505 body fluid secretion|sodium ion transport apical plasma membrane|integral to plasma membrane|mitochondrion ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity p.E509fs*1(1) endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1) 16 all_cancers(142;0.0752)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) ATCCTCACCCTTTTTTTCCCT 0.418 10 1235 --- --- --- --- ANKHD1 54882 broad.mit.edu 37 5 139905676 139905676 + Frame_Shift_Del DEL A A - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr5:139905676delA ENST00000297183.6 + 26 4712 c.4588delA c.(4588-4590)aafs p.K1531fs ANKHD1-EIF4EBP3_ENST00000532219.1_Frame_Shift_Del_p.K1531fs|ANKHD1_ENST00000360839.2_Frame_Shift_Del_p.K1531fs NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTGTTTGGGAAAAAAAGGGC 0.423 11 1091 --- --- --- --- SLIT3 6586 broad.mit.edu 37 5 168250317 168250319 + In_Frame_Del DEL TGT TGT - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr5:168250317_168250319delTGT ENST00000519560.1 - 7 994_996 c.575_577delACA c.(574-579)atc>a p.NI192del SLIT3_ENST00000404867.3_In_Frame_Del_p.NI192del|SLIT3_ENST00000332966.8_In_Frame_Del_p.NI192del NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 192 apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ATGCGACTGATGTTGTTGTTGTT 0.537 7 1644 --- --- --- --- DAXX 1616 broad.mit.edu 37 6 33287898 33287900 + In_Frame_Del DEL TCC TCC - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr6:33287898_33287900delTCC ENST00000374542.5 - 5 1557_1559 c.1353_1355delGGA c.(1351-1356)gaa>ga p.EE455del DAXX_ENST00000266000.6_In_Frame_Del_p.EE455del|DAXX_ENST00000414083.2_In_Frame_Del_p.EE380del|DAXX_ENST00000477162.1_5'UTR NM_001141969.1|NM_001141970.1|NM_001350.4 NP_001135441.1|NP_001135442.1|NP_001341.1 Q9UER7 DAXX_HUMAN death-domain associated protein 455 Asp/Glu-rich (acidic).|Necessary for interaction with USP7. activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent chromosome, centromeric region|cytosol|nucleolus|PML body androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding p.E451E(2) breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 55 ctcttcttcttcctcctcctcct 0.552 """Mis, F, N""" Pancreatic neuroendocrine tumors. Paediatric GBM 7 256 --- --- --- --- C6orf89 221477 broad.mit.edu 37 6 36867371 36867371 + Frame_Shift_Del DEL C C - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr6:36867371delC ENST00000480824.2 + 3 445 c.151delC c.(151-153)ccfs p.P53fs C6orf89_ENST00000359359.2_5'UTR|C6orf89_ENST00000510325.2_5'UTR|C6orf89_ENST00000355190.3_Frame_Shift_Del_p.P60fs|C6orf89_ENST00000373685.1_Frame_Shift_Del_p.P53fs Q6UWU4 CF089_HUMAN chromosome 6 open reading frame 89 53 integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2) 15 ACCTCAGAGACCCCCCCCGCA 0.428 11 399 --- --- --- --- TREML2 79865 broad.mit.edu 37 6 41168714 41168716 + In_Frame_Del DEL CAG CAG - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr6:41168714_41168716delCAG ENST00000483722.1 - 1 216_218 c.31_33delCTG c.(31-33)del p.L11del NM_024807.2 NP_079083.2 Q5T2D2 TRML2_HUMAN triggering receptor expressed on myeloid cells-like 2 11 T cell activation cell surface|integral to membrane|plasma membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1) 18 Ovarian(28;0.0418)|Colorectal(47;0.196) CCTGTGGCCACAGCAGCAGCAGC 0.631 7 189 --- --- --- --- TRERF1 55809 broad.mit.edu 37 6 42196333 42196333 + Frame_Shift_Del DEL T T - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr6:42196333delT ENST00000541110.1 - 18 3981 c.3413delA c.(3412-3414)agfs p.K1138fs TRERF1_ENST00000340840.2_Frame_Shift_Del_p.K1047fs|TRERF1_ENST00000372922.4_Frame_Shift_Del_p.K1118fs|TRERF1_ENST00000372917.4_Frame_Shift_Del_p.K1047fs|TRERF1_ENST00000354325.2_Frame_Shift_Del_p.K1035fs Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 1118 Interacts with CREBBP. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CTTCTGAGCCTTTTGCCTCTG 0.542 8 2528 --- --- --- --- ICK 22858 broad.mit.edu 37 6 52883129 52883129 + Splice_Site DEL T T - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr6:52883129delT ENST00000356971.3 - 8 1151 c.663_splice c.e8+1 p.K221_splice ICK_ENST00000350082.5_Splice_Site_p.K221_splice NM_016513.4 NP_057597.2 Q9UPZ9 ICK_HUMAN intestinal cell (MAK-like) kinase 221 Protein kinase. intracellular protein kinase cascade|multicellular organismal development cytosol|nucleus ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1) 31 Lung NSC(77;0.103) TATCATTACCTTTTTTGGTGT 0.502 10 1244 --- --- --- --- GABRR2 2570 broad.mit.edu 37 6 89975427 89975429 + In_Frame_Del DEL AAG AAG - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr6:89975427_89975429delAAG ENST00000402938.3 - 7 925_927 c.792_794delCTT c.(790-795)ttg>tt p.FL264del GABRR2_ENST00000602399.1_In_Frame_Del_p.FL289del P28476 GBRR2_HUMAN gamma-aminobutyric acid (GABA) A receptor, rho 2 289 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1) 21 all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0158) TGTTTGGAGCAAGAAGAAGAAGA 0.517 7 400 --- --- --- --- KIAA0408 9729 broad.mit.edu 37 6 127767596 127767596 + Frame_Shift_Del DEL C C - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr6:127767596delC ENST00000483725.3 - 5 2204 c.1868delG c.(1867-1869)gafs p.G623fs SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR NM_014702.4 NP_055517.3 Q6ZU52 K0408_HUMAN KIAA0408 623 protein binding endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1) 28 GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13) CACTTCCTGTCCCCCCCACAC 0.398 7 1720 --- --- --- --- MED23 9439 broad.mit.edu 37 6 131919846 131919846 + Frame_Shift_Del DEL T T - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr6:131919846delT ENST00000403834.3 - 19 2467 c.2294delA c.(2293-2295)atfs p.N765fs MED23_ENST00000368058.1_Frame_Shift_Del_p.N765fs|MED23_ENST00000540546.1_Frame_Shift_Del_p.N765fs|MED23_ENST00000368053.4_Frame_Shift_Del_p.N765fs|MED23_ENST00000368060.3_Frame_Shift_Del_p.N759fs|MED23_ENST00000354577.4_Frame_Shift_Del_p.N765fs|MED23_ENST00000368068.3_Frame_Shift_Del_p.N759fs|MED23_ENST00000545957.1_Frame_Shift_Del_p.N400fs Q9ULK4 MED23_HUMAN mediator complex subunit 23 759 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor complex protein binding|transcription coactivator activity p.N759fs*7(1)|p.N765fs*7(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 44 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608) CTCCTCCACATTTTTTTTCAG 0.378 7 418 --- --- --- --- OLIG3 167826 broad.mit.edu 37 6 137815210 137815212 + In_Frame_Del DEL TGG TGG - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr6:137815210_137815212delTGG ENST00000367734.2 - 1 319_321 c.96_98delCCA c.(94-99)cag>ca p.HQ32del NM_175747.2 NP_786923.1 Q7RTU3 OLIG3_HUMAN oligodendrocyte transcription factor 3 32 Poly-His. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.Q33K(1) endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 11 Breast(32;0.165)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447) ACGGCTCTCCtggtggtggtggt 0.596 10 485 --- --- --- --- CCDC28A 25901 broad.mit.edu 37 6 139097330 139097330 + Frame_Shift_Del DEL A A - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr6:139097330delA ENST00000332797.6 + 2 498 c.343delA c.(343-345)aafs p.K116fs NM_015439.2 NP_056254.1 Q8IWP9 CC28A_HUMAN coiled-coil domain containing 28A 116 p.N117fs*5(2) autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1) 13 OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306) TGTCAATGCCAAAAAAAATGC 0.413 10 544 --- --- --- --- GRM1 2911 broad.mit.edu 37 6 146350671 146350672 + Frame_Shift_Ins INS - - T TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr6:146350671_146350672insT ENST00000392299.2 + 2 488_489 c.18_19insT c.(16-21)ttttttfs p.FF6fs GRM1_ENST00000355289.4_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000492807.2_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000282753.1_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000507907.1_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000361719.2_Frame_Shift_Ins_p.FF6fs Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 6 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) GGCTCCTTTTGTTTTTTTTCCC 0.644 7 1078 --- --- --- --- ICA1 3382 broad.mit.edu 37 7 8198250 8198251 + Frame_Shift_Ins INS - - T TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr7:8198250_8198251insT ENST00000402384.3 - 7 877_878 c.611_612insA c.(610-612)attfs p.I204fs ICA1_ENST00000265577.7_Frame_Shift_Ins_p.I203fs|ICA1_ENST00000406470.2_Frame_Shift_Ins_p.I204fs|ICA1_ENST00000401396.1_Frame_Shift_Ins_p.I192fs|ICA1_ENST00000407906.1_Frame_Shift_Ins_p.I204fs|ICA1_ENST00000396675.3_Frame_Shift_Ins_p.I204fs|ICA1_ENST00000422063.2_Frame_Shift_Ins_p.I204fs Q05084 ICA69_HUMAN islet cell autoantigen 1, 69kDa 204 AH. neurotransmitter transport cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane p.N204fs*5(3) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1) 23 Ovarian(82;0.0612) UCEC - Uterine corpus endometrioid carcinoma (126;0.246) ATTTGTCAAAGTTTTTTTTTGC 0.376 7 439 --- --- --- --- GTF2IRD2P1 0 broad.mit.edu 37 7 72683455 72683456 + RNA INS - - T TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr7:72683455_72683456insT ENST00000425256.1 - 0 120 NR_002164.1 CGTTCTACCAgtttttttttgt 0.441 14 474 --- --- --- --- ELN 2006 broad.mit.edu 37 7 73462847 73462849 + In_Frame_Del DEL GCA GCA - rs140742644 TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr7:73462847_73462849delGCA ENST00000252034.7 + 15 1159_1161 c.760_762delGCA c.(760-762)del p.A260del ELN_ENST00000380553.4_In_Frame_Del_p.A143del|ELN_ENST00000458204.1_In_Frame_Del_p.A250del|ELN_ENST00000414324.1_In_Frame_Del_p.A255del|ELN_ENST00000429192.1_In_Frame_Del_p.A265del|ELN_ENST00000445912.1_In_Frame_Del_p.A260del|ELN_ENST00000320492.7_In_Frame_Del_p.A224del|ELN_ENST00000380562.4_In_Frame_Del_p.A260del|ELN_ENST00000357036.5_In_Frame_Del_p.A265del|ELN_ENST00000380575.4_In_Frame_Del_p.A250del|ELN_ENST00000380576.5_In_Frame_Del_p.A260del|ELN_ENST00000320399.6_In_Frame_Del_p.A260del|ELN_ENST00000380584.4_In_Frame_Del_p.A246del|ELN_ENST00000358929.4_In_Frame_Del_p.A260del NM_000501.2 NP_000492.2 P15502 ELN_HUMAN elastin 260 Ala-rich. blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1) 32 Lung NSC(55;0.159) Rofecoxib(DB00533) TGGCCCCCAGgcagcagcagcag 0.621 T PAX5 B-ALL """Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome""" 7 641 --- --- --- --- PCLO 27445 broad.mit.edu 37 7 82595446 82595447 + Frame_Shift_Ins INS - - T TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr7:82595446_82595447insT ENST00000423517.2 - 4 3994_3995 c.3657_3658insA c.(3655-3660)aataatfs p.NN1219fs PCLO_ENST00000333891.8_Frame_Shift_Ins_p.NN1219fs NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1158 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 TCAGGGATTAGTTTTTTTTCTT 0.386 8 1410 --- --- --- --- STEAP2-AS1 0 broad.mit.edu 37 7 89748927 89748928 + RNA INS - - C rs138239781 by1000genomes TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr7:89748927_89748928insC ENST00000478318.2 - 0 424 DPY19L2P4_ENST00000497063.1_RNA|RP5-1121E10.2_ENST00000471553.1_lincRNA GGTGCGGGCCTCCCCCTTCCCC 0.639 11 16 --- --- --- --- LRRC4 64101 broad.mit.edu 37 7 127670324 127670325 + Frame_Shift_Ins INS - - G rs147967619 TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr7:127670324_127670325insG ENST00000249363.3 - 2 626_627 c.369_370insC c.(367-372)gcgcctfs p.P124fs SND1_ENST00000354725.3_Intron NM_022143.4 NP_071426.1 Q9HBW1 LRRC4_HUMAN leucine rich repeat containing 4 124 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2) 26 Lung(243;0.124) GTGTTGAGGCTGGCCAGGCCGT 0.619 7 451 --- --- --- --- C7orf55-LUC7L2 0 broad.mit.edu 37 7 139094365 139094366 + Frame_Shift_Del DEL AG AG - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr7:139094365_139094366delAG ENST00000354926.4 + 7 1098_1099 c.744_745delAG c.(742-747)gaagfs p.EE248fs LUC7L2_ENST00000541515.3_Frame_Shift_Del_p.EE314fs|C7orf55-LUC7L2_ENST00000541170.3_Frame_Shift_Del_p.EE245fs|C7orf55-LUC7L2_ENST00000263545.6_Frame_Shift_Del_p.EE247fs NM_016019.3 NP_057103.2 AACGAAGAGAAGAGAGAGAGAG 0.391 8 159 --- --- --- --- TRBV7-4 0 broad.mit.edu 37 7 142176678 142176679 + RNA DEL CA CA - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr7:142176678_142176679delCA ENST00000390369.2 - 0 49 GTAGTCATCGCACACACACACA 0.460 14 367 --- --- --- --- NOM1 64434 broad.mit.edu 37 7 156743209 156743211 + In_Frame_Del DEL GAG GAG - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr7:156743209_156743211delGAG ENST00000275820.3 + 1 793_795 c.778_780delGAG c.(778-780)del p.E264del NM_138400.1 NP_612409.1 Q5C9Z4 NOM1_HUMAN nucleolar protein with MIF4G domain 1 264 Glu-rich.|Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus. RNA metabolic process nucleolus protein binding endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 31 Ovarian(565;0.218) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00301) UCEC - Uterine corpus endometrioid carcinoma (81;0.169) ggacgaaagtgaggaggaggagg 0.552 7 343 --- --- --- --- WDR60 55112 broad.mit.edu 37 7 158704353 158704353 + Frame_Shift_Del DEL A A - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr7:158704353delA ENST00000407559.3 + 12 1731 c.1573delA c.(1573-1575)aafs p.K526fs NM_018051.4 NP_060521.4 Q8WVS4 WDR60_HUMAN WD repeat domain 60 526 NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2) 35 Ovarian(565;0.152) all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18) AAACTTTGGGAAAAAAAATAC 0.328 8 559 --- --- --- --- PRKDC 5591 broad.mit.edu 37 8 48701554 48701555 + Frame_Shift_Ins INS - - T TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr8:48701554_48701555insT ENST00000314191.2 - 77 10867_10868 c.10811_10812insA c.(10810-10812)aatfs p.N3604fs PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Frame_Shift_Ins_p.N3604fs NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 3605 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) TTTTTTCAATGTTTTTTTTATT 0.401 Non-homologous end-joining 9 472 --- --- --- --- PRKDC 5591 broad.mit.edu 37 8 48746799 48746799 + Frame_Shift_Del DEL T T - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr8:48746799delT ENST00000314191.2 - 60 8163 c.8107delA c.(8107-8109)ggfs p.R2703fs PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Frame_Shift_Del_p.R2703fs NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 2704 KIP-binding. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) AGGCCCAGCCTTTTTTTCCCA 0.498 Non-homologous end-joining 9 2745 --- --- --- --- SULF1 23213 broad.mit.edu 37 8 70514026 70514026 + Frame_Shift_Del DEL T T - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr8:70514026delT ENST00000260128.4 + 10 1740 c.1023delT c.(1021-1023)ccfs p.P341fs SULF1_ENST00000419716.3_Frame_Shift_Del_p.P341fs|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Frame_Shift_Del_p.P341fs|SULF1_ENST00000458141.2_Frame_Shift_Del_p.P341fs NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 341 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) TTCGTGTGCCTTTTTTTATTC 0.408 9 1693 --- --- --- --- ZNF704 619279 broad.mit.edu 37 8 81733713 81733713 + Frame_Shift_Del DEL T T - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr8:81733713delT ENST00000327835.3 - 2 348 c.117delA c.(115-117)aafs p.K39fs NM_001033723.2 NP_001028895.1 Q6ZNC4 ZN704_HUMAN zinc finger protein 704 39 intracellular zinc ion binding lung(9)|skin(1)|upper_aerodigestive_tract(1) 11 all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06) BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277) TCCGGCTGGCTTTTTTGGTGT 0.428 7 2491 --- --- --- --- RP11-257P3.3 0 broad.mit.edu 37 8 82434138 82434138 + RNA DEL T T - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr8:82434138delT ENST00000523380.1 + 0 200 RP11-257P3.3_ENST00000518637.1_RNA CTGATTCACATTTTTTTCCAA 0.453 7 1108 --- --- --- --- UBR5 51366 broad.mit.edu 37 8 103274272 103274272 + Frame_Shift_Del DEL A A - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr8:103274272delA ENST00000520539.1 - 55 8319 c.7713delT c.(7711-7713)ttfs p.F2571fs UBR5_ENST00000521922.1_Frame_Shift_Del_p.F2564fs|UBR5_ENST00000518205.1_Frame_Shift_Del_p.F299fs|UBR5_ENST00000220959.4_Frame_Shift_Del_p.F2570fs NM_015902.5 NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 2571 HECT. cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) TTACAGGATCAAAAAAAGCAA 0.338 7 606 --- --- --- --- LRP12 29967 broad.mit.edu 37 8 105509429 105509429 + Frame_Shift_Del DEL A A - rs35928649 TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr8:105509429delA ENST00000276654.5 - 5 1459 c.1351delT c.(1351-1353)gcfs p.C451fs LRP12_ENST00000424843.2_Frame_Shift_Del_p.C432fs NM_013437.4 NP_038465.1 Q9Y561 LRP12_HUMAN low density lipoprotein receptor-related protein 12 451 LDL-receptor class A 5. endocytosis|regulation of growth coated pit|integral to plasma membrane low-density lipoprotein receptor activity|protein binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229) CCTGGTTGGCAAAAAAAGCAG 0.408 7 985 --- --- --- --- PKHD1L1 93035 broad.mit.edu 37 8 110455173 110455174 + Splice_Site INS - - G TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr8:110455173_110455174insG ENST00000378402.5 + 36 4497 c.e36-1 NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) ATTTTATGGCAGGTTCATTTTC 0.322 HNSCC(38;0.096) 16 680 --- --- --- --- FAM74A3 0 broad.mit.edu 37 9 40715923 40715924 + RNA DEL AA AA - rs62565543 TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr9:40715923_40715924delAA ENST00000604146.1 + 0 262_263 NR_026801.1 endometrium(1)|large_intestine(2)|lung(6)|skin(1) 10 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) GAAGACGTGGAAAGAGCTCAGA 0.569 13 93 --- --- --- --- OR13C5 138799 broad.mit.edu 37 9 107361451 107361452 + Frame_Shift_Del DEL GC GC - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr9:107361451_107361452delGC ENST00000374779.2 - 1 336_337 c.243_244delGC c.(241-246)actafs p.TL81fs NM_001004482.1 NP_001004482.1 Q8NGS8 O13C5_HUMAN olfactory receptor, family 13, subfamily C, member 5 81 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4) 28 AAGCTCACTAGCGTGGAGGGAA 0.510 11 306 --- --- --- --- C9orf43 257169 broad.mit.edu 37 9 116187646 116187648 + In_Frame_Del DEL GCA GCA - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr9:116187646_116187648delGCA ENST00000288462.4 + 10 1334_1336 c.888_890delGCA c.(886-891)cgg>cg p.RQ296del C9orf43_ENST00000374165.1_In_Frame_Del_p.RQ296del NM_152786.1 NP_689999.1 Q8TAL5 CI043_HUMAN chromosome 9 open reading frame 43 296 Gln-rich. breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3) 15 agcagcagcggcagcagcagcag 0.557 12 433 --- --- --- --- GOLGA2 2801 broad.mit.edu 37 9 131019389 131019390 + Frame_Shift_Ins INS - - A TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr9:131019389_131019390insA ENST00000421699.2 - 26 2977_2978 c.2965_2966insT c.(2965-2967)ccgfs p.P989fs NM_004486.4 NP_004477.3 Q08379 GOGA2_HUMAN golgin A2 989 Golgi cisterna membrane protein binding p.Y977fs*9(2) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 34 GTCAGCCCGGTAAAAAAAAGGA 0.564 13 883 --- --- --- --- GTF3C5 9328 broad.mit.edu 37 9 135919216 135919216 + Frame_Shift_Del DEL T T - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr9:135919216delT ENST00000372097.5 + 3 798 c.475delT c.(475-477)ttfs p.F160fs GTF3C5_ENST00000372108.5_Frame_Shift_Del_p.F160fs|GTF3C5_ENST00000372095.5_Frame_Shift_Del_p.F35fs|GTF3C5_ENST00000485692.1_3'UTR|GTF3C5_ENST00000342018.8_Frame_Shift_Del_p.F160fs|GTF3C5_ENST00000372099.6_Frame_Shift_Del_p.F151fs NM_012087.3 NP_036219.2 Q9Y5Q8 TF3C5_HUMAN general transcription factor IIIC, polypeptide 5, 63kDa 160 transcription factor TFIIIC complex DNA binding|protein binding endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1) 21 OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05) GAAGGAGGCCTTTTTCCACCA 0.592 7 727 --- --- --- --- TUBBP5 0 broad.mit.edu 37 9 141069809 141069809 + RNA DEL T T - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr9:141069809delT ENST00000503395.1 + 0 1023 CTCCCGTCTCTTGCAGTTCTG 0.662 5 10 --- --- --- --- SYT15 83849 broad.mit.edu 37 10 46969401 46969403 + In_Frame_Del DEL CAG CAG - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr10:46969401_46969403delCAG ENST00000374325.3 - 2 210_212 c.58_60delCTG c.(58-60)del p.L21del SYT15_ENST00000374321.4_In_Frame_Del_p.L21del|SYT15_ENST00000503753.1_In_Frame_Del_p.L21del|SYT15_ENST00000374323.3_Intron NM_181519.2 NP_852660.1 Q9BQS2 SYT15_HUMAN synaptotagmin XV 21 integral to membrane|plasma membrane cervix(1)|endometrium(5)|kidney(2)|lung(5) 13 CCCCGATCAACAGCAGCAGCAGC 0.631 7 335 --- --- --- --- AGAP11 119385 broad.mit.edu 37 10 88753099 88753100 + RNA INS - - T TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr10:88753099_88753100insT ENST00000444431.1 + 0 64 RP11-96C23.5_ENST00000433214.2_RNA Q8TF27 AGA11_HUMAN ankyrin repeat and GTPase domain Arf GTPase activating protein 11 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding AATGAGTTTACTTTTTTTTTTA 0.307 11 226 --- --- --- --- HECTD2 143279 broad.mit.edu 37 10 93247481 93247481 + Frame_Shift_Del DEL A A - rs57105282 TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr10:93247481delA ENST00000446394.1 + 12 1249 c.1149delA c.(1147-1149)gcfs p.A383fs HECTD2_ENST00000298068.5_Frame_Shift_Del_p.A379fs|HECTD2_ENST00000536715.1_Intron|HECTD2_ENST00000498446.1_3'UTR|HECTD2_ENST00000371667.1_Frame_Shift_Del_p.A29fs Q5U5R9 HECD2_HUMAN HECT domain containing E3 ubiquitin protein ligase 2 379 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1) 27 CTGTAGCTGCAAAAAAAATCA 0.318 7 729 --- --- --- --- C10orf82 143379 broad.mit.edu 37 10 118424338 118424338 + Frame_Shift_Del DEL T T - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 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 7 914 --- --- --- --- MKI67 4288 broad.mit.edu 37 10 129902204 129902205 + Frame_Shift_Del DEL TG TG - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr10:129902204_129902205delTG ENST00000368654.3 - 13 8274_8275 c.7899_7900delCA c.(7897-7902)caaafs p.HK2633fs MKI67_ENST00000368653.3_Frame_Shift_Del_p.HK2273fs NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 2633 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) GCTGGTTCTTTGTGTGTGTGTG 0.500 20 655 --- --- --- --- MUC15 143662 broad.mit.edu 37 11 26587426 26587427 + Frame_Shift_Ins INS - - T TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr11:26587426_26587427insT ENST00000436318.2 - 2 193_194 c.60_61insA c.(58-63)aacaatfs p.NN20fs MUC15_ENST00000455601.2_5'UTR|MUC15_ENST00000527569.1_Frame_Shift_Ins_p.NN20fs|MUC15_ENST00000529533.1_Frame_Shift_Ins_p.NN20fs|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000281268.8_Frame_Shift_Ins_p.NN20fs|ANO3_ENST00000531568.1_Intron|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000525139.1_Intron Q8N387 MUC15_HUMAN mucin 15, cell surface associated 0 extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25 TTTGGTATTGGTTTTTTTTTAA 0.287 9 273 --- --- --- --- OR4C46 119749 broad.mit.edu 37 11 51515689 51515690 + Frame_Shift_Del DEL GT GT - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr11:51515689_51515690delGT ENST00000328188.1 + 1 408_409 c.408_409delGT c.(406-411)cagtfs p.QC136fs NM_001004703.1 NP_001004703.1 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, member 46 136 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 48 TCATGAACCAGTGTGTGTGTGC 0.480 7 1025 --- --- --- --- RTN3 10313 broad.mit.edu 37 11 63525788 63525788 + Frame_Shift_Del DEL T T - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr11:63525788delT ENST00000354497.4 + 4 634 c.570delT c.(568-570)gcfs p.A190fs RTN3_ENST00000356000.3_3'UTR|RTN3_ENST00000341307.2_3'UTR|RTN3_ENST00000339997.4_3'UTR|RTN3_ENST00000537981.1_3'UTR|RTN3_ENST00000377819.5_3'UTR|RTN3_ENST00000540798.1_3'UTR NM_001265591.1 NP_001252520.1 O95197 RTN3_HUMAN reticulon 3 0 apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 20 CATTCCAAGCTTTTTTTTTAA 0.348 10 281 --- --- --- --- KDM2A 22992 broad.mit.edu 37 11 67018079 67018081 + In_Frame_Del DEL GAG GAG - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr11:67018079_67018081delGAG ENST00000529006.2 + 17 3024_3026 c.2578_2580delGAG c.(2578-2580)del p.E866del KDM2A_ENST00000398645.2_Intron|KDM2A_ENST00000308783.5_In_Frame_Del_p.E324del|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000530342.1_In_Frame_Del_p.E427del NM_012308.2 NP_036440.1 Q9Y2K7 KDM2A_HUMAN lysine (K)-specific demethylase 2A 866 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2) 36 ggaggaggaagaggaggaggagg 0.655 7 219 --- --- --- --- ATG16L2 89849 broad.mit.edu 37 11 72528863 72528865 + In_Frame_Del DEL AGG AGG - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr11:72528863_72528865delAGG ENST00000321297.5 + 3 419_421 c.281_283delAGG c.(280-285)cag>c p.QE94del ATG16L2_ENST00000534905.1_In_Frame_Del_p.QE94del NM_033388.1 NP_203746.1 Q8NAA4 A16L2_HUMAN autophagy related 16-like 2 (S. cerevisiae) 94 autophagy|protein transport cytoplasm protein binding breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9) 14 BRCA - Breast invasive adenocarcinoma(5;2.73e-06) GTGAAGTGGCAGGAGGAGGAGGA 0.591 7 288 --- --- --- --- POLD3 10714 broad.mit.edu 37 11 74336609 74336609 + Frame_Shift_Del DEL A A - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr11:74336609delA ENST00000263681.2 + 8 1019 c.890delA c.(889-891)gafs p.E297fs POLD3_ENST00000527458.1_Frame_Shift_Del_p.E258fs|POLD3_ENST00000532497.1_Frame_Shift_Del_p.E191fs NM_006591.2 NP_006582.1 Q15054 DPOD3_HUMAN polymerase (DNA-directed), delta 3, accessory subunit 297 base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm DNA-directed DNA polymerase activity|protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1) 18 Breast(11;3.21e-06) CTGCAGAAGGAAAAAAAAAGG 0.458 9 254 --- --- --- --- TSKU 25987 broad.mit.edu 37 11 76506673 76506675 + In_Frame_Del DEL CTG CTG - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr11:76506673_76506675delCTG ENST00000527881.1 + 2 1039_1041 c.13_15delCTG c.(13-15)del p.L9del TSKU_ENST00000333090.4_In_Frame_Del_p.L9del Q8WUA8 TSK_HUMAN tsukushi, small leucine rich proteoglycan 9 extracellular region NS(1)|large_intestine(4)|lung(6)|urinary_tract(1) 12 Ovarian(111;0.112) GCCGTGGCCCCTGCTGCTGCTGC 0.616 20 425 --- --- --- --- NOX4 50507 broad.mit.edu 37 11 89106662 89106663 + Splice_Site INS - - A rs56022003 TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr11:89106662_89106663insA ENST00000535633.1 - 12 1313 c.e12-2 NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000263317.4_Splice_Site|NOX4_ENST00000375979.3_Splice_Site|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000343727.5_Splice_Site NM_001143836.1|NM_016931.3 NP_001137308.1|NP_058627.1 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity p.?(1) NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2) 44 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) AGTTGGACACTAAAAAAAAATA 0.292 10 934 --- --- --- --- KDM4D 55693 broad.mit.edu 37 11 94730806 94730807 + Frame_Shift_Ins INS - - A rs142280183 by1000genomes TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr11:94730806_94730807insA ENST00000335080.5 + 3 1102_1103 c.270_271insA c.(268-273)caaaaafs p.QK90fs KDM4D_ENST00000536741.1_Frame_Shift_Ins_p.QK90fs NM_018039.2 NP_060509.2 Q6B0I6 KDM4D_HUMAN lysine (K)-specific demethylase 4D 90 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 CTCAATACCATAAAAAAAAGAA 0.455 9 862 --- --- --- --- RECQL 5965 broad.mit.edu 37 12 21644546 21644547 + Frame_Shift_Ins INS - - T TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr12:21644546_21644547insT ENST00000444129.2 - 3 588_589 c.120_121insA c.(118-123)aatcctfs p.NP40fs RECQL_ENST00000421138.2_Frame_Shift_Ins_p.NP40fs NM_002907.3|NM_032941.2 NP_002898.2|NP_116559.1 P46063 RECQ1_HUMAN RecQ protein-like (DNA helicase Q1-like) 40 DNA recombination|DNA repair|DNA replication nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding p.V41fs*2(1) endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 17 TTTGTCAGGACTTTTTTTTTCT 0.381 Other identified genes with known or suspected DNA repair function 13 742 --- --- --- --- ITPR2 3709 broad.mit.edu 37 12 26640046 26640046 + Frame_Shift_Del DEL T T - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr12:26640046delT ENST00000381340.3 - 40 5925 c.5509delA c.(5509-5511)ggfs p.R1837fs NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 1837 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) TCATCGTCCCTTTTTTTGTTA 0.358 8 1249 --- --- --- --- OVCH1 341350 broad.mit.edu 37 12 29596301 29596301 + Frame_Shift_Del DEL T T - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr12:29596301delT ENST00000318184.5 - 25 3149 c.3150delA c.(3148-3150)aafs p.K1050fs OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron NM_183378.2 NP_899234.2 Q7RTY7 OVCH1_HUMAN ovochymase 1 1050 proteolysis extracellular region metal ion binding|serine-type endopeptidase activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3) 92 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) TACCTATTAATTTTTTTCCTG 0.348 11 1346 --- --- --- --- CCNT1 904 broad.mit.edu 37 12 49087434 49087436 + In_Frame_Del DEL ATG ATG - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr12:49087434_49087436delATG ENST00000261900.3 - 9 1783_1785 c.1561_1563delCAT c.(1561-1563)del p.H521del NM_001240.3 NP_001231.2 O60563 CCNT1_HUMAN cyclin T1 521 His-rich. cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm DNA binding|protein kinase binding breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2) 27 AGTGGTGATTATGATGATGATGA 0.443 7 2118 --- --- --- --- SRGAP1 57522 broad.mit.edu 37 12 64491019 64491019 + Splice_Site DEL A A - rs79989081 TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr12:64491019delA ENST00000355086.3 + 15 2202 c.e15-1 RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000357825.3_Splice_Site|SRGAP1_ENST00000543397.1_Splice_Site NM_020762.2 NP_065813.1 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 axon guidance cytosol p.?(1) breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 65 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) TTTTTTTTTTAGGTGAAAATC 0.348 9 277 --- --- --- --- TMEM19 55266 broad.mit.edu 37 12 72094757 72094757 + Frame_Shift_Del DEL T T - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 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 7 998 --- --- --- --- TPTE2 93492 broad.mit.edu 37 13 20041394 20041394 + Frame_Shift_Del DEL A A - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr13:20041394delA ENST00000400230.2 - 7 527 c.483delT c.(481-483)ttfs p.F161fs TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000382975.4_Intron|TPTE2_ENST00000382977.4_Frame_Shift_Del_p.F161fs|TPTE2_ENST00000382978.1_Intron|TPTE2_ENST00000390680.2_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 7 385 --- --- --- --- TPTE2P1 0 broad.mit.edu 37 13 25527490 25527491 + RNA INS - - AAAAAG TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr13:25527490_25527491insAAAAAG ENST00000429698.1 - 0 282 AGGAAGGTTCTAAAAAAAATTT 0.252 10 45 --- --- --- --- EEF1DP3 0 broad.mit.edu 37 13 32527507 32527508 + RNA DEL GT GT - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr13:32527507_32527508delGT ENST00000428783.1 + 0 1207_1208 TCTGGCCTGAGTGTGTGTGTGT 0.460 11 283 --- --- --- --- TRAV9-2 0 broad.mit.edu 37 14 22409533 22409539 + RNA DEL CTCTCTC CTCTCTC - rs57759840 TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr14:22409533_22409539delCTCTCTC ENST00000390441.2 + 0 102 ctctctctctctctctctTTTTTTTTT 0.415 8 36 --- --- --- --- TRAV12-3 0 broad.mit.edu 37 14 22433684 22433684 + RNA DEL T T - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr14:22433684delT ENST00000390442.3 + 0 5 TTTGTTATTATTTTTTTTTCG 0.353 7 219 --- --- --- --- KIAA0391 9692 broad.mit.edu 37 14 35592700 35592700 + Frame_Shift_Del DEL T T - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr14:35592700delT ENST00000557565.1 + 2 630 c.249delT c.(247-249)cafs p.H83fs KIAA0391_ENST00000534898.4_Frame_Shift_Del_p.H83fs|KIAA0391_ENST00000603588.1_Intron|KIAA0391_ENST00000605870.1_Intron|KIAA0391_ENST00000604948.1_Intron|KIAA0391_ENST00000603544.1_Frame_Shift_Del_p.H83fs|KIAA0391_ENST00000250377.7_5'UTR|KIAA0391_ENST00000321130.10_Frame_Shift_Del_p.H83fs O15091 MRRP3_HUMAN KIAA0391 83 tRNA processing mitochondrion central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 14 Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184) Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277) GBM - Glioblastoma multiforme(112;0.0593) CTGTTCCTCATTTTTTTTTAG 0.423 7 383 --- --- --- --- FBXO33 254170 broad.mit.edu 37 14 39871612 39871612 + Frame_Shift_Del DEL T T - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr14:39871612delT ENST00000298097.7 - 2 1040 c.703delA c.(703-705)ttfs p.I235fs FBXO33_ENST00000554190.1_Intron NM_203301.3 NP_976046.1 Q7Z6M2 FBX33_HUMAN F-box protein 33 235 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1) 9 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169) GBM - Glioblastoma multiforme(112;0.0425) TACTGTTTAATTTTTTTGCCA 0.323 7 362 --- --- --- --- RBM25 58517 broad.mit.edu 37 14 73572607 73572608 + Frame_Shift_Del DEL AG AG - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr14:73572607_73572608delAG ENST00000261973.7 + 11 1480_1481 c.1195_1196delAG c.(1195-1197)afs p.R399fs RBM25_ENST00000527432.1_Frame_Shift_Del_p.R399fs NM_021239.2 NP_067062.1 P49756 RBM25_HUMAN RNA binding motif protein 25 399 Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization. apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing cytoplasm|nuclear speck mRNA binding|nucleotide binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1) 31 BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688) agagcgggaaagagagagagag 0.446 10 200 --- --- --- --- SNHG10 0 broad.mit.edu 37 14 95999677 95999677 + RNA DEL A A - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr14:95999677delA ENST00000500370.2 - 0 766 SNHG10_ENST00000554169.1_RNA|SNHG10_ENST00000553559.1_RNA|SNHG10_ENST00000555866.1_RNA CTCAAAGTTTAAAAAAAAAAA 0.353 51 623 --- --- --- --- IGHV3-43 0 broad.mit.edu 37 14 106926652 106926653 + RNA DEL TC TC - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr14:106926652_106926653delTC ENST00000434710.1 - 0 71_72 CATGGTGCGTTCTCTGTGTTCA 0.495 20 1055 --- --- --- --- GOLGA8DP 0 broad.mit.edu 37 15 22709778 22709779 + RNA DEL TC TC - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr15:22709778_22709779delTC ENST00000314246.8 - 0 1069 CATGCTACCATCTCTCTCTCTG 0.535 7 1015 --- --- --- --- FAN1 22909 broad.mit.edu 37 15 31196894 31196894 + Frame_Shift_Del DEL A A - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr15:31196894delA ENST00000362065.4 + 2 319 c.28delA c.(28-30)aafs p.K11fs FAN1_ENST00000561607.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000565466.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000561594.1_Frame_Shift_Del_p.K11fs NM_014967.4 NP_055782.3 Q9Y2M0 FAN1_HUMAN FANCD2/FANCI-associated nuclease 1 11 double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision nucleus 5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1) 29 ACCTCCTGACAAAAAAAGGCC 0.353 Direct reversal of damage 7 775 --- --- --- --- SRP14 6727 broad.mit.edu 37 15 40328597 40328599 + In_Frame_Del DEL TGC TGC - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr15:40328597_40328599delTGC ENST00000267884.6 - 5 417_419 c.346_348delGCA c.(346-348)del p.A116del SRP14_ENST00000560773.1_In_Frame_Del_p.A36del|SRP14_ENST00000558720.1_In_Frame_Del_p.A36del|SRP14_ENST00000558527.1_5'UTR NM_003134.4 NP_003125.3 P37108 SRP14_HUMAN signal recognition particle 14kDa (homologous Alu RNA binding protein) 116 Ala/Thr-rich. negative regulation of translational elongation|response to drug|SRP-dependent cotranslational protein targeting to membrane cytosol|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding endometrium(1)|skin(1)|upper_aerodigestive_tract(1) 3 all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505) ctgcggcaggtgctgctgctgct 0.478 7 419 --- --- --- --- SECISBP2L 9728 broad.mit.edu 37 15 49304896 49304896 + Frame_Shift_Del DEL T T - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr15:49304896delT ENST00000559471.1 - 12 1943 c.1680delA c.(1678-1680)aafs p.K560fs SECISBP2L_ENST00000261847.3_Frame_Shift_Del_p.K515fs NM_001193489.1 NP_001180418.1 Q93073 SBP2L_HUMAN SECIS binding protein 2-like 560 breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 46 TCTCTTTTCCTTTTTTTGCTT 0.333 7 715 --- --- --- --- SLTM 79811 broad.mit.edu 37 15 59182564 59182565 + Frame_Shift_Del DEL CT CT - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr15:59182564_59182565delCT ENST00000380516.2 - 15 2081_2082 c.1994_1995delAG c.(1993-1995)gfs p.E665fs AC025918.2_ENST00000452467.1_RNA|SLTM_ENST00000536328.1_Frame_Shift_Del_p.E234fs NM_001013843.1|NM_024755.2 NP_001013865.1|NP_079031.2 Q9NWH9 SLTM_HUMAN SAFB-like, transcription modulator 665 Arg/Glu-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 TTTCTAGGCGCTCTCTCTCTCT 0.475 26 898 --- --- --- --- RP11-420N3.2 0 broad.mit.edu 37 16 5313074 5313076 + RNA DEL GGT GGT - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr16:5313074_5313076delGGT ENST00000569895.1 + 0 304 GCAGggtgacggtggtggtggtg 0.483 15 285 --- --- --- --- RABEP2 79874 broad.mit.edu 37 16 28931200 28931202 + In_Frame_Del DEL CTG CTG - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr16:28931200_28931202delCTG ENST00000358201.4 - 3 925_927 c.337_339delCAG c.(337-339)del p.Q113del RABEP2_ENST00000561803.1_5'UTR|RABEP2_ENST00000357573.6_In_Frame_Del_p.Q113del|RABEP2_ENST00000544477.1_In_Frame_Del_p.Q42del NM_024816.2 NP_079092.2 Q9H5N1 RABE2_HUMAN rabaptin, RAB GTPase binding effector protein 2 113 Poly-Gln. endocytosis|protein transport early endosome growth factor activity|GTPase activator activity breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 16 CCTCACAGTCCTGCTGCTGCTGC 0.640 10 372 --- --- --- --- RP11-19N8.4 0 broad.mit.edu 37 16 33070154 33070154 + RNA DEL C C - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr16:33070154delC ENST00000561541.1 - 0 291 CCTATCACATCCCATTCCAGC 0.488 12 36 --- --- --- --- RP11-23E10.4 0 broad.mit.edu 37 16 33365420 33365420 + RNA DEL A A - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr16:33365420delA ENST00000568520.1 - 0 249 TACAAACTATAAAAAAACAGA 0.358 9 72 --- --- --- --- RP11-51O6.1 0 broad.mit.edu 37 16 61089294 61089308 + RNA DEL TTCTTCTTCTTTTTT TTCTTCTTCTTTTTT - rs80101907 TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr16:61089294_61089308delTTCTTCTTCTTTTTT ENST00000591758.1 - 0 560_566 GGTTGATAGCttcttcttctttttttttttttttt 0.237 24 102 --- --- --- --- ZFHX3 463 broad.mit.edu 37 16 72822564 72822566 + In_Frame_Del DEL TGC TGC - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr16:72822564_72822566delTGC ENST00000268489.5 - 10 10281_10283 c.9609_9611delGCA c.(9607-9612)caa>ca p.QQ3203del ZFHX3_ENST00000397992.5_In_Frame_Del_p.QQ2289del NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3203 Poly-Gln. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) cacctgtggttgctgctgctgct 0.650 11 780 --- --- --- --- ADAMTS18 170692 broad.mit.edu 37 16 77334227 77334228 + Frame_Shift_Ins INS - - G rs148849944 by1000genomes TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr16:77334227_77334228insG ENST00000282849.5 - 17 3024_3025 c.2606_2607insC c.(2605-2607)cgcfs p.R869fs NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 869 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 TTTTTGTGGCTGGTGGAGTTCC 0.460 7 549 --- --- --- --- ANKRD11 29123 broad.mit.edu 37 16 89349640 89349641 + Frame_Shift_Ins INS - - T TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr16:89349640_89349641insT ENST00000301030.4 - 9 3769_3770 c.3309_3310insA c.(3307-3312)aaatgafs p.*1104fs ANKRD11_ENST00000378330.2_Frame_Shift_Ins_p.*1104fs NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 1104 Lys-rich. nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) TTCTTGTCATCTTTTTTTTCAG 0.465 18 1014 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7579518 7579519 + Frame_Shift_Ins INS - - TT TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr17:7579518_7579519insTT ENST00000420246.2 - 4 300_301 c.168_169insAA c.(166-171)gaacccfs p.P57fs TP53_ENST00000413465.2_Frame_Shift_Ins_p.P57fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.P57fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.P57fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.P57fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.P57fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 57 Interaction with HRMT1L2. 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.A63fs*66(3)|p.E51fs*59(1)|p.E56E(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(1)|p.D57fs*86(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) GGACCTGGGTCTTCAGTGAACC 0.599 111 """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) 553 615 --- --- --- --- RP11-178C3.2 0 broad.mit.edu 37 17 58050859 58050859 + RNA DEL C C - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr17:58050859delC ENST00000586209.1 + 0 158 TTTTTTTTGGCAGTTTTTACT 0.418 10 92 --- --- --- --- ROCK1P1 0 broad.mit.edu 37 18 112519 112520 + RNA INS - - A rs140158594 by1000genomes TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr18:112519_112520insA ENST00000576266.1 + 0 153_154 CCAGCTCCCCCGGGGCCTCCGT 0.530 7 90 --- --- --- --- OSBPL1A 114876 broad.mit.edu 37 18 21750331 21750331 + Frame_Shift_Del DEL T T - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr18:21750331delT ENST00000319481.3 - 24 2584 c.2378delA c.(2377-2379)atfs p.N793fs OSBPL1A_ENST00000399443.3_Frame_Shift_Del_p.N280fs|OSBPL1A_ENST00000357041.4_Frame_Shift_Del_p.N411fs NM_080597.3 NP_542164.2 Q9BXW6 OSBL1_HUMAN oxysterol binding protein-like 1A 793 cholesterol metabolic process|lipid transport|vesicle-mediated transport phospholipid binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 36 all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17) TTTCTTATCATTTTTTTTGTA 0.393 7 892 --- --- --- --- SMAD4 4089 broad.mit.edu 37 18 48593481 48593482 + Frame_Shift_Ins INS - - T TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr18:48593481_48593482insT ENST00000342988.3 + 10 1770_1771 c.1232_1233insT c.(1231-1233)atafs p.I411fs SMAD4_ENST00000398417.2_Frame_Shift_Ins_p.I411fs|SMAD4_ENST00000588745.1_Frame_Shift_Ins_p.I315fs NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 411 MH2. BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(36)|p.?(2) NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) TTTGTACAGAGTTACTACTTAG 0.426 109 223 --- --- --- --- ZNF358 140467 broad.mit.edu 37 19 7585352 7585353 + In_Frame_Ins INS - - GCT rs71752719 TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr19:7585352_7585353insGCT ENST00000597229.1 + 2 1394_1395 c.1224_1225insGCT c.(1222-1227)gcctgc>gcGCTctgc p.408_409AC>ALC ZNF358_ENST00000394341.2_In_Frame_Ins_p.408_409AC>ALC NM_018083.4 NP_060553.4 Q9NW07 ZN358_HUMAN zinc finger protein 358 408 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 ctgccgcggccgctgcagctgc 0.703 10 45 --- --- --- --- MUC16 94025 broad.mit.edu 37 19 9063127 9063128 + Frame_Shift_Ins INS - - A TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr19:9063127_9063128insA ENST00000397910.4 - 3 24521_24522 c.24318_24319insT c.(24316-24321)ttagacfs p.LD8106fs NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8108 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTGCTAGTCTCAAAAAAGCCAG 0.495 244 432 --- --- --- --- ZNF44 51710 broad.mit.edu 37 19 12384448 12384448 + Frame_Shift_Del DEL A A - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr19:12384448delA ENST00000356109.5 - 5 884 c.766delT c.(766-768)ggfs p.W256fs ZNF44_ENST00000355684.5_Frame_Shift_Del_p.W208fs NM_001164276.1 NP_001157748.1 P15621 ZNF44_HUMAN zinc finger protein 44 256 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleus DNA binding|protein binding|zinc ion binding ovary(1) 1 Renal(1328;0.157) GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179) AAACTGGGCCAAAAAAAGGCT 0.398 9 811 --- --- --- --- ZNF443 10224 broad.mit.edu 37 19 12542364 12542364 + Frame_Shift_Del DEL A A - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr19:12542364delA ENST00000301547.5 - 4 819 c.622delT c.(622-624)ggfs p.W208fs CTD-3105H18.16_ENST00000595562.1_Intron NM_005815.4 NP_005806.2 Q9Y2A4 ZN443_HUMAN zinc finger protein 443 208 induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1) 28 AAACTGGGCCAAAAAAACGCT 0.408 7 1059 --- --- --- --- SLC7A9 11136 broad.mit.edu 37 19 33353391 33353393 + In_Frame_Del DEL TGA TGA - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr19:33353391_33353393delTGA ENST00000023064.4 - 5 769_771 c.578_580delTCA c.(577-582)agc>a p.IS193del SLC7A9_ENST00000587772.1_In_Frame_Del_p.IS193del|SLC7A9_ENST00000590341.1_In_Frame_Del_p.IS193del NM_001126335.1|NM_001243036.1|NM_014270.4 NP_001119807.1|NP_001229965.1|NP_055085.1 P82251 BAT1_HUMAN solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9 193 I -> II (in CSNU). blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly integral to plasma membrane L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 Esophageal squamous(110;0.137) L-Cystine(DB00138) ACCAGCCCGCTGATGATGATGAT 0.631 7 521 --- --- --- --- FAM98C 147965 broad.mit.edu 37 19 38899502 38899504 + In_Frame_Del DEL AAG AAG - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr19:38899502_38899504delAAG ENST00000252530.5 + 8 1049_1051 c.1030_1032delAAG c.(1030-1032)del p.K349del FAM98C_ENST00000343358.7_In_Frame_Del_p.K267del|FAM98C_ENST00000588262.1_3'UTR NM_174905.3 NP_777565.3 Q17RN3 FA98C_HUMAN family with sequence similarity 98, member C 349 endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(60;3.95e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) TTGGGGTCGCAAGAAGAAGAAGA 0.606 27 543 --- --- --- --- LIPE-AS1 0 broad.mit.edu 37 19 43136362 43136363 + RNA DEL TG TG - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr19:43136362_43136363delTG ENST00000594688.1 + 0 1450 LIPE-AS1_ENST00000594624.2_RNA NR_073179.1 TGAGTATGTATGTGTGTGTGTG 0.505 11 194 --- --- --- --- SLC8A2 6543 broad.mit.edu 37 19 47935681 47935683 + In_Frame_Del DEL TCC TCC - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr19:47935681_47935683delTCC ENST00000236877.6 - 9 2525_2527 c.2130_2132delGGA c.(2128-2133)gac>ga p.ED710del SLC8A2_ENST00000542837.1_In_Frame_Del_p.ED466del|SLC8A2_ENST00000539381.1_In_Frame_Del_p.ED173del|SLC8A2_ENST00000601757.1_5'UTR 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 12 762 --- --- --- --- FUZ 80199 broad.mit.edu 37 19 50310483 50310485 + In_Frame_Del DEL CAG CAG - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr19:50310483_50310485delCAG ENST00000313777.4 - 11 1343_1345 c.1180_1182delCTG c.(1180-1182)del p.L394del FUZ_ENST00000528094.1_In_Frame_Del_p.L358del|FUZ_ENST00000533418.1_In_Frame_Del_p.L344del|FUZ_ENST00000445575.2_Intron NM_025129.4 NP_079405.2 Q9BT04 FUZZY_HUMAN fuzzy planar cell polarity protein 394 Leu-rich. cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway cytoplasm|cytoskeleton endometrium(1)|lung(3) 4 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116) TCTGGGGAGACAGCAGCAGCAGC 0.635 14 325 --- --- --- --- CTD-2616J11.14 0 broad.mit.edu 37 19 51906669 51906670 + RNA INS - - T TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr19:51906669_51906670insT ENST00000600765.1 + 0 324_325 GGTTGTTCTTGTTTTTTTTGCT 0.446 9 390 --- --- --- --- GZF1 64412 broad.mit.edu 37 20 23345921 23345923 + In_Frame_Del DEL GAG GAG - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr20:23345921_23345923delGAG ENST00000338121.5 + 2 978_980 c.901_903delGAG c.(901-903)del p.E306del GZF1_ENST00000461789.1_3'UTR|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000377051.2_In_Frame_Del_p.E306del 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 7 414 --- --- --- --- GINS1 9837 broad.mit.edu 37 20 25422397 25422397 + Frame_Shift_Del DEL A A - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr20:25422397delA ENST00000262460.4 + 6 601 c.507delA c.(505-507)ttfs p.L169fs GINS1_ENST00000429262.2_3'UTR NM_021067.3 NP_066545.3 Q14691 PSF1_HUMAN GINS complex subunit 1 (Psf1 homolog) 169 DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle cytoplasm|nucleoplasm p.N172fs*14(1) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1) 7 CAGTCCTATTAAAAAAAAATA 0.299 11 577 --- --- --- --- FRG1B 0 broad.mit.edu 37 20 29624034 29624035 + Frame_Shift_Ins INS - - G rs73621649 TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr20:29624034_29624035insG ENST00000439954.2 + 4 419_420 c.73_74insG c.(73-75)tgafs p.*25fs FRG1B_ENST00000278882.3_Intron|FRG1B_ENST00000358464.4_Intron endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TTTCTCCAATATTGATGAGGGC 0.287 8 97 --- --- --- --- CBR3 874 broad.mit.edu 37 21 37510175 37510175 + Frame_Shift_Del DEL T T - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr21:37510175delT ENST00000290354.5 + 2 623 c.342delT c.(340-342)aafs p.N114fs CBR3-AS1_ENST00000453159.1_RNA|CBR3-AS1_ENST00000413862.1_RNA NM_001236.3 NP_001227.1 O75828 CBR3_HUMAN carbonyl reductase 3 114 cytosol|nucleus carbonyl reductase (NADPH) activity|NADPH binding kidney(1)|large_intestine(1)|lung(1) 3 TGAAGACAAATTTTTTTGCCA 0.408 10 645 --- --- --- --- TRAPPC10 7109 broad.mit.edu 37 21 45472274 45472275 + Frame_Shift_Ins INS - - A rs149217788 byFrequency TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr21:45472274_45472275insA ENST00000291574.4 + 4 574_575 c.399_400insA c.(397-402)aaaaaafs p.KK133fs TRAPPC10_ENST00000380221.3_Frame_Shift_Ins_p.KK133fs NM_003274.4 NP_003265.3 P48553 TPC10_HUMAN trafficking protein particle complex 10 133 vesicle-mediated transport Golgi apparatus|integral to membrane binding|sodium ion transmembrane transporter activity p.K133N(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4) 41 ATGATGCCAAGAAAAAAAACAA 0.356 8 565 --- --- --- --- SF3A1 10291 broad.mit.edu 37 22 30742328 30742330 + In_Frame_Del DEL CTG CTG - rs141985009 byFrequency TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr22:30742328_30742330delCTG ENST00000215793.7 - 3 518_520 c.364_366delCAG c.(364-366)del p.Q122del SF3A1_ENST00000439242.1_Intron NM_005877.4 NP_005868.1 Q15459 SF3A1_HUMAN splicing factor 3a, subunit 1, 120kDa 122 Poly-Gln. nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1) 29 GCTGGGTGGTCTGCTGCTGCTGC 0.606 11 626 --- --- --- --- DNAJB7 150353 broad.mit.edu 37 22 41257115 41257115 + Frame_Shift_Del DEL T T - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr22:41257115delT ENST00000307221.4 - 1 1015 c.884delA c.(883-885)agfs p.K296fs XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000482652.1_Intron|XPNPEP3_ENST00000357137.4_Intron NM_145174.1 NP_660157.1 Q7Z6W7 DNJB7_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 7 296 Poly-Lys. protein folding heat shock protein binding|unfolded protein binding breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 10 TTTACGCTTCTTTTTTTTCCT 0.378 7 490 --- --- --- --- DNAJB7 150353 broad.mit.edu 37 22 41257834 41257835 + Frame_Shift_Ins INS - - A TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr22:41257834_41257835insA ENST00000307221.4 - 1 295_296 c.164_165insT c.(163-165)gttfs p.V55fs XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000482652.1_3'UTR|XPNPEP3_ENST00000357137.4_Intron NM_145174.1 NP_660157.1 Q7Z6W7 DNJB7_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 7 55 J. protein folding heat shock protein binding|unfolded protein binding breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 10 CATTTGATAATACCTCGTATGC 0.371 9 1038 --- --- --- --- TCF20 6942 broad.mit.edu 37 22 42610573 42610575 + In_Frame_Del DEL AGG AGG - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr22:42610573_42610575delAGG ENST00000359486.3 - 1 873_875 c.737_739delCCT c.(736-741)ttc>t p.SF246del TCF20_ENST00000335626.4_In_Frame_Del_p.SF246del NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 246 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 GGTGAAGGGAaggaggaggagga 0.507 7 455 --- --- --- --- ARFGAP3 26286 broad.mit.edu 37 22 43213780 43213780 + Frame_Shift_Del DEL T T - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr22:43213780delT ENST00000263245.5 - 10 1115 c.896delA c.(895-897)atfs p.N299fs ARFGAP3_ENST00000429508.2_Frame_Shift_Del_p.N227fs|ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.N255fs NM_001142293.1|NM_014570.4 NP_001135765.1|NP_055385.3 Q9NP61 ARFG3_HUMAN ADP-ribosylation factor GTPase activating protein 3 299 intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport cytosol|Golgi membrane ARF GTPase activator activity|protein transporter activity|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1) 11 TGAGTCAACATTTTTTTTGCC 0.363 10 891 --- --- --- --- TSIX 0 broad.mit.edu 37 X 73047124 73047125 + RNA DEL AC AC - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chrX:73047124_73047125delAC ENST00000604411.1 + 0 35085_35086 XIST_ENST00000429829.1_lincRNA NR_003255.2 GCCACACATGACACACACACAC 0.470 11 496 --- --- --- --- XIST 0 broad.mit.edu 37 X 73071723 73071723 + RNA DEL G G - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chrX:73071723delG ENST00000429829.1 - 0 865 NR_001564.2 CTCTGCCAAAGCGGTAGGTAC 0.458 11 502 --- --- --- --- BHLHB9 80823 broad.mit.edu 37 X 102004419 102004421 + In_Frame_Del DEL GAG GAG - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chrX:102004419_102004421delGAG ENST00000372735.1 + 4 1081_1083 c.496_498delGAG c.(496-498)del p.E171del BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del|BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del Q6PI77 BHLH9_HUMAN basic helix-loop-helix domain containing, class B, 9 171 Poly-Glu. cytoplasm|nucleus binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 GTCAGGGGCTGAGGAGGAGGAGG 0.488 15 785 --- --- --- --- PAK3 5063 broad.mit.edu 37 X 110406206 110406208 + In_Frame_Del DEL GAA GAA - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chrX:110406206_110406208delGAA ENST00000519681.1 + 10 1037_1039 c.595_597delGAA c.(595-597)del p.E203del PAK3_ENST00000518291.1_In_Frame_Del_p.E218del|PAK3_ENST00000446737.1_In_Frame_Del_p.E182del|PAK3_ENST00000372010.1_In_Frame_Del_p.E197del|PAK3_ENST00000360648.4_In_Frame_Del_p.E218del|PAK3_ENST00000262836.4_In_Frame_Del_p.E197del|PAK3_ENST00000372007.4_In_Frame_Del_p.E182del|PAK3_ENST00000425146.1_In_Frame_Del_p.E182del|PAK3_ENST00000417227.1_In_Frame_Del_p.E203del O75914 PAK3_HUMAN p21 protein (Cdc42/Rac)-activated kinase 3 197 Linker. multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 agatgaagaggaagaagaagaag 0.394 TSP Lung(19;0.15) 7 528 --- --- --- --- CUL4B 8450 broad.mit.edu 37 X 119694117 119694119 + In_Frame_Del DEL GAG GAG - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chrX:119694117_119694119delGAG ENST00000371322.5 - 1 436_438 c.375_377delCTC c.(373-378)tca>tc p.SS127del CUL4B_ENST00000404115.3_In_Frame_Del_p.SS145del|CUL4B_ENST00000336592.6_In_Frame_Del_p.SS132del NM_001079872.1 NP_001073341.1 Q13620 CUL4B_HUMAN cullin 4B 145 Ser-rich. cell cycle|DNA repair|ubiquitin-dependent protein catabolic process Cul4B-RING ubiquitin ligase complex|nucleus protein binding|ubiquitin protein ligase binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 TGGTGAAGATgaggaggaggagg 0.488 14 296 --- --- --- --- SPANXN3 139067 broad.mit.edu 37 X 142605149 142605149 + Frame_Shift_Del DEL T T - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chrX:142605149delT ENST00000370503.2 - 1 154 c.71delA c.(70-72)atfs p.N24fs NM_001009609.2 NP_001009609.1 Q5MJ09 SPXN3_HUMAN SPANX family, member N3 24 endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1) 14 Acute lymphoblastic leukemia(192;6.56e-05) TACCTCATCATTTTTTTTGTT 0.453 7 659 --- --- --- --- SPANXN2 494119 broad.mit.edu 37 X 142803692 142803692 + Frame_Shift_Del DEL T T - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chrX:142803692delT ENST00000370498.1 - 1 824 c.71delA c.(70-72)atfs p.N24fs NM_001009615.1 NP_001009615.1 Q5MJ10 SPXN2_HUMAN SPANX family, member N2 24 NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) TACCTCATCATTTTTTTTGTT 0.443 8 746 --- --- --- --- PASD1 139135 broad.mit.edu 37 X 150817142 150817144 + In_Frame_Del DEL GCT GCT - TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chrX:150817142_150817144delGCT ENST00000370357.4 + 9 930_932 c.685_687delGCT c.(685-687)del p.A236del NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 236 Poly-Ala. nucleus signal transducer activity p.A229A(2) breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) CGTTGAACCCgctgctgctgctg 0.433 12 506 --- --- --- ---