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 OTOF 9381 broad.mit.edu 37 2 26686908 26686908 + Missense_Mutation SNP C C T rs143889717 TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr2:26686908C>T ENST00000272371.2 - 40 5153 c.5027G>A c.(5026-5028)cGc>cAc p.R1676H OTOF_ENST00000403946.3_Missense_Mutation_p.R1676H|OTOF_ENST00000402415.3_Missense_Mutation_p.R986H|OTOF_ENST00000339598.3_Missense_Mutation_p.R909H|OTOF_ENST00000338581.6_Missense_Mutation_p.R909H NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 1676 cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCAGCCTGCGCGGGGGATGTC 0.667000 63 148 0 0 1 0 0 KIF25 0 broad.mit.edu 37 6 168440828 168440828 + Missense_Mutation SNP C C T TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr6:168440828C>T ENST00000443060.2 + 7 969 c.578C>T c.(577-579)gCg>gTg p.A193V KIF25_ENST00000354419.2_Missense_Mutation_p.A193V|KIF25_ENST00000351261.3_Missense_Mutation_p.A193V Q9UIL4 KIF25_HUMAN kinesin family member 25 193 Kinesin-motor. microtubule-based movement|mitotic sister chromatid segregation cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) CTGGTGCACGCGGATTCCTCC 0.572000 16 48 0 0 1 0 0 ANKRD17 26057 broad.mit.edu 37 4 74012998 74012998 + Silent SNP T T C TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr4:74012998T>C ENST00000358602.4 - 9 1835 c.1719A>G c.(1717-1719)caA>caG p.Q573Q ANKRD17_ENST00000330838.6_Silent_p.Q573Q|ANKRD17_ENST00000509867.2_Silent_p.Q460Q|ANKRD17_ENST00000514252.1_Intron NM_032217.3 NP_115593.3 O75179 ANR17_HUMAN ankyrin repeat domain 17 573 interspecies interaction between organisms cytoplasm|nucleus RNA binding NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3) 96 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) AATGACCCTCTTGAGCAGCTT 0.398000 43 75 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110487479 110487479 + Missense_Mutation SNP C C T TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr8:110487479C>T ENST00000378402.5 + 51 8842 c.8738C>T c.(8737-8739)tCg>tTg p.S2913L NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 2913 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) TCATATACATCGACATTCTAT 0.338000 HNSCC(38;0.096) 8 13 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102292807 102292807 + RNA SNP C C A TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr15:102292807C>A ENST00000561463.1 + 0 853 p.T132N(1) CCAACCTGCACTCGCGTGGGA 0.607000 3 35 1 1 1 1 0 ADH1C 126 broad.mit.edu 37 4 100263953 100263953 + RNA SNP A A G rs78836241 TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr4:100263953A>G ENST00000515683.1 - 0 1178 NM_000669.3 NP_000660.1 P00326 ADH1G_HUMAN alcohol dehydrogenase 1C (class I), gamma polypeptide ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|zinc ion binding OV - Ovarian serous cystadenocarcinoma(123;1.08e-07) Fomepizole(DB01213)|NADH(DB00157) GGATCATACCATGGTGTCAAG 0.413000 81 176 0 0 1 0 0 CDC14B 8555 broad.mit.edu 37 9 99296274 99296274 + Missense_Mutation SNP G G A TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr9:99296274G>A ENST00000375241.1 - 9 1332 c.881C>T c.(880-882)gCc>gTc p.A294V CDC14B_ENST00000265659.2_Missense_Mutation_p.A294V|CDC14B_ENST00000375242.3_Missense_Mutation_p.A257V|CDC14B_ENST00000375240.3_Missense_Mutation_p.A294V|CDC14B_ENST00000463569.1_Missense_Mutation_p.A294V|CDC14B_ENST00000375236.1_Missense_Mutation_p.A294V NM_003671.3|NM_033331.2 NP_003662.1|NP_201588.1 O60729 CC14B_HUMAN cell division cycle 14B 294 B. activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint nucleolus|nucleoplasm protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1) 15 Acute lymphoblastic leukemia(62;0.0559) TTTGACAATGGCATCAGTAGG 0.423000 8 8 0 0 1 0 0 ARSF 416 broad.mit.edu 37 X 3021883 3021883 + Missense_Mutation SNP C C T rs141853880 byFrequency TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chrX:3021883C>T ENST00000381127.1 + 9 1404 c.1183C>T c.(1183-1185)Cgg>Tgg p.R395W ARSF_ENST00000359361.2_Missense_Mutation_p.R395W|ARSF_ENST00000537104.1_Missense_Mutation_p.R395W NM_001201538.1|NM_001201539.1 NP_001188467.1|NP_001188468.1 P54793 ARSF_HUMAN arylsulfatase F 395 extracellular region arylsulfatase activity|metal ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 38 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) ACCAGCTGGACGGTTGATTAA 0.478000 36 80 0 0 1 0 0 ZNF852 285346 broad.mit.edu 37 3 44541162 44541162 + Silent SNP T T C TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr3:44541162T>C ENST00000436261.1 - 4 1267 c.1107A>G c.(1105-1107)caA>caG p.Q369Q ZNF852_ENST00000489411.1_5'UTR B6EU87 B6EU87_HUMAN zinc finger protein 852 369 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|lung(5) 8 GTTCAACAAGTTGAGAGATCT 0.423000 3 61 0 0 1 0 0 LATS2 26524 broad.mit.edu 37 13 21562426 21562426 + Missense_Mutation SNP C C A TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr13:21562426C>A ENST00000382592.4 - 4 1898 c.1493G>T c.(1492-1494)gGc>gTc p.G498V LATS2_ENST00000542899.1_Missense_Mutation_p.G498V NM_014572.2 NP_055387.2 Q9NRM7 LATS2_HUMAN large tumor suppressor kinase 2 498 cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity microtubule organizing center|nucleus|spindle pole ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2) 45 all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104) CGGGAAGGCGCCTGCGCCGCC 0.766000 6 7 0.000157383 0.00016188 1 1 0 DNAJC28 54943 broad.mit.edu 37 21 34860571 34860571 + Missense_Mutation SNP A A T TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr21:34860571A>T ENST00000314399.3 - 2 1568 c.1130T>A c.(1129-1131)aTg>aAg p.M377K DNAJC28_ENST00000381947.3_Missense_Mutation_p.M377K|DNAJC28_ENST00000402202.1_Missense_Mutation_p.M377K NM_017833.3 NP_060303.2 Q9NX36 DJC28_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 28 377 LIVPILTRQKVHFDAQKEIVRAQKIYETLIKTKEVTDRNPN NLDQGEGEKTPEIKKGFLNWMNLWKFIKIRSF -> CSHPD QAKSPF (in Ref. 2; BAA91185). heat shock protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1) 18 CCACAGATTCATCCAGTTTAA 0.299000 8 20 0 0 1 0 0 HDAC10 83933 broad.mit.edu 37 22 50689416 50689416 + Missense_Mutation SNP G G T TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr22:50689416G>T ENST00000216271.5 - 1 398 c.46C>A c.(46-48)Ctg>Atg p.L16M HDAC10_ENST00000349505.4_Missense_Mutation_p.L16M|MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000498366.1_Intron|HDAC10_ENST00000448072.1_Missense_Mutation_p.L16M NM_001159286.1|NM_032019.5 NP_001152758.1|NP_114408.3 Q969S8 HDA10_HUMAN histone deacetylase 10 16 Histone deacetylase. negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|histone deacetylase complex|nucleus histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific) endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 8 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) TCCCAGAGCAGCCGGGTGGCC 0.667000 27 41 7.01153e-11 7.64895e-11 1 1 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 4 75 0 0 1 0 0 GPR50 9248 broad.mit.edu 37 X 150349612 150349612 + Missense_Mutation SNP C C A TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chrX:150349612C>A ENST00000218316.3 + 2 1626 c.1557C>A c.(1555-1557)gaC>gaA p.D519E NM_004224.3 NP_004215.2 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 519 Pro-rich. cell-cell signaling integral to plasma membrane melatonin receptor activity breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 38 Acute lymphoblastic leukemia(192;6.56e-05) CCACTGCTGACTATCCCAAGC 0.617000 76 179 1.19347e-43 1.36397e-43 1 1 0 ITGA8 8516 broad.mit.edu 37 10 15559198 15559198 + Missense_Mutation SNP C C T TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr10:15559198C>T ENST00000378076.3 - 30 3504 c.3151G>A c.(3151-3153)Gac>Aac p.D1051N NM_003638.1 NP_003629.1 P53708 ITA8_HUMAN integrin, alpha 8 1051 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 TGTTCCCTGTCGGTCATGTCC 0.443000 15 30 0 0 1 0 0 KIAA1549 57670 broad.mit.edu 37 7 138603027 138603027 + Missense_Mutation SNP C C T TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr7:138603027C>T ENST00000440172.1 - 2 1393 c.1345G>A c.(1345-1347)Gag>Aag p.E449K KIAA1549_ENST00000422774.1_Missense_Mutation_p.E449K|KIAA1549_ENST00000242365.4_Missense_Mutation_p.E399K NM_001164665.1|NM_020910.2 NP_001158137.1|NP_065961.2 Q9HCM3 K1549_HUMAN KIAA1549 449 integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 CACAGAGTCTCGGCACCATCC 0.517000 O BRAF pilocytic astrocytoma 10 102 0 0 1 0 0 CCDC113 29070 broad.mit.edu 37 16 58287907 58287907 + Silent SNP A A G TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr16:58287907A>G ENST00000219299.4 + 3 313 c.234A>G c.(232-234)cgA>cgG p.R78R CCDC113_ENST00000443128.2_Intron NM_014157.3 NP_054876.2 Q9H0I3 CC113_HUMAN coiled-coil domain containing 113 78 protein complex large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1) 12 TGCAGTTTCGAGGCAGGCGTA 0.498000 41 72 0 0 1 0 0 CHRNA2 0 broad.mit.edu 37 8 27321507 27321507 + Silent SNP T T G TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr8:27321507T>G ENST00000407991.1 - 6 1061 c.453A>C c.(451-453)gcA>gcC p.A151A CHRNA2_ENST00000240132.2_Silent_p.A136A|CHRNA2_ENST00000520933.2_Silent_p.A151A NM_000742.3 NP_000733.2 Q15822 ACHA2_HUMAN cholinergic receptor, nicotinic, alpha 2 (neuronal) 151 cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136) Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199) ACTCCCCATCTGCACTGAGAA 0.622000 7 30 0 0 1 0 0 GFAP 2670 broad.mit.edu 37 17 42991175 42991175 + Missense_Mutation SNP G G T TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr17:42991175G>T ENST00000253408.5 - 3 604 c.539C>A c.(538-540)aCc>aAc p.T180N GFAP_ENST00000586793.1_Missense_Mutation_p.T180N|GFAP_ENST00000435360.2_Missense_Mutation_p.T180N|GFAP_ENST00000591327.1_5'UTR|GFAP_ENST00000588735.1_Intron NM_002055.4 NP_002046.1 P14136 GFAP_HUMAN glial fibrillary acidic protein 180 Coil 1B.|Rod. cytoplasm|intermediate filament structural constituent of cytoskeleton endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 23 Prostate(33;0.0959) ACGGGCCAGGGTGGCTTCATC 0.622000 65 97 4.09166e-32 4.5323e-32 1 1 0 HS6ST2 90161 broad.mit.edu 37 X 132091353 132091353 + Splice_Site SNP C C T TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chrX:132091353C>T ENST00000370836.2 - 3 845 c.428_splice c.e3-1 p.V144_splice HS6ST2_ENST00000370837.1_5'UTR|HS6ST2_ENST00000521489.1_Splice_Site_p.V144_splice NM_147175.3 NP_671704.3 Q96MM7 H6ST2_HUMAN heparan sulfate 6-O-sulfotransferase 2 144 integral to membrane sulfotransferase activity central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2) 9 Acute lymphoblastic leukemia(192;0.000127) ATGTTCCCGACGCTGGGGGAA 0.627000 10 46 0 0 1 0 0 RIF1 55183 broad.mit.edu 37 2 152319418 152319418 + Silent SNP C C T TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr2:152319418C>T ENST00000243326.4 + 29 3867 c.3384C>T c.(3382-3384)gaC>gaT p.D1128D RIF1_ENST00000428287.2_Silent_p.D1128D|RIF1_ENST00000453091.2_Silent_p.D1128D|RIF1_ENST00000430328.2_Silent_p.D1128D|RIF1_ENST00000444746.2_Silent_p.D1128D Q5UIP0 RIF1_HUMAN RAP1 interacting factor homolog (yeast) 1128 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 97 BRCA - Breast invasive adenocarcinoma(221;0.0429) TGGACAGTGACATTGTCATTC 0.393000 16 34 0 0 1 0 0 AKR1CL1 340811 broad.mit.edu 37 10 5203897 5203897 + Silent SNP C C T TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr10:5203897C>T ENST00000334314.3 - 3 376 c.300G>A c.(298-300)ccG>ccA p.P100P aldo-keto reductase family 1, member C-like 1 cervix(1)|endometrium(1)|large_intestine(2)|lung(2) 6 TTTCTAGGGCCGGGTGAACCA 0.388000 13 22 0 0 1 0 0 TMEM131 23505 broad.mit.edu 37 2 98504555 98504555 + Missense_Mutation SNP G G A TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr2:98504555G>A ENST00000186436.5 - 4 547 c.319C>T c.(319-321)Ccc>Tcc p.P107S TMEM131_ENST00000425805.2_Missense_Mutation_p.P58S NM_015348.1 NP_056163.1 Q92545 TM131_HUMAN transmembrane protein 131 107 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 AATCGTATGGGCCTGCAATTC 0.338000 8 24 0 0 1 0 0 MIR520H 0 broad.mit.edu 37 19 54245794 54245794 + RNA SNP A A G TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr19:54245794A>G ENST00000385126.1 + 0 29 NR_030215.1 TAGAGGAAGCACTTTCTGTTT 0.388000 20 38 0 0 1 0 0 CNTN1 1272 broad.mit.edu 37 12 41333261 41333261 + Silent SNP G G A TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr12:41333261G>A ENST00000551295.2 + 12 1470 c.1353G>A c.(1351-1353)ggG>ggA p.G451G CNTN1_ENST00000347616.1_Silent_p.G451G|CNTN1_ENST00000547702.1_Silent_p.G451G|CNTN1_ENST00000360099.3_Silent_p.G451G|CNTN1_ENST00000547849.1_Silent_p.G451G|CNTN1_ENST00000348761.2_Silent_p.G440G NM_001843.3 NP_001834.2 Q12860 CNTN1_HUMAN contactin 1 451 Ig-like C2-type 5. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) GGAGTAAAGGGACAGAGTGGC 0.373000 9 25 0 0 1 0 0 IRS4 8471 broad.mit.edu 37 X 107978402 107978402 + Silent SNP G G A TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chrX:107978402G>A ENST00000372129.2 - 1 1249 c.1173C>T c.(1171-1173)gaC>gaT p.D391D NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 391 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 AAAGCATCTCGTCTTCCCCGT 0.652000 42 86 0 0 1 0 0 ZNF630 57232 broad.mit.edu 37 X 47918328 47918328 + Silent SNP A A C TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chrX:47918328A>C ENST00000276054.4 - 5 2065 c.1131T>G c.(1129-1131)ccT>ccG p.P377P ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000442455.3_Silent_p.P487P|ZNF630_ENST00000409324.3_Silent_p.P501P Q2M218 ZN630_HUMAN zinc finger protein 630 501 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(6)|lung(11)|ovary(1) 19 GTATGATAAGAGGTGATTTCT 0.413000 32 42 0 0 1 0 0 MPHOSPH8 54737 broad.mit.edu 37 13 20221185 20221185 + Silent SNP C C T TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr13:20221185C>T ENST00000361479.5 + 3 1040 c.972C>T c.(970-972)acC>acT p.T324T MPHOSPH8_ENST00000414242.2_Silent_p.T324T NM_017520.3 NP_059990.2 Q99549 MPP8_HUMAN M-phase phosphoprotein 8 324 cell cycle cytoplasm|nucleus p.T324T(1) breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367) all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795) AGGAGGATACCGATGTCAGAG 0.498000 13 40 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102292801 102292801 + RNA SNP C C A TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr15:102292801C>A ENST00000561463.1 + 0 847 p.T130N(1) TGCTGTCCAACCTGCACTCGC 0.597000 3 42 1 1 1 1 0 LRP3 4037 broad.mit.edu 37 19 33696671 33696671 + Missense_Mutation SNP G G A TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr19:33696671G>A ENST00000253193.7 + 5 1197 c.995G>A c.(994-996)cGg>cAg p.R332Q NM_002333.3 NP_002324.2 O75074 LRP3_HUMAN low density lipoprotein receptor-related protein 3 332 CUB 2. receptor-mediated endocytosis coated pit|integral to membrane receptor activity breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2) 15 Esophageal squamous(110;0.137) AGCAACCACCGGCCCGTGAGC 0.706000 9 1 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 17 68 0 0 1 0 0 CACNA1B 774 broad.mit.edu 37 9 140953608 140953608 + Missense_Mutation SNP A A T TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr9:140953608A>T ENST00000277549.5 + 31 4708 c.2139A>T c.(2137-2139)gaA>gaT p.E713D CACNA1B_ENST00000371355.4_Missense_Mutation_p.E1518D|CACNA1B_ENST00000371357.1_Missense_Mutation_p.E1518D|CACNA1B_ENST00000371363.1_Missense_Mutation_p.E1517D|CACNA1B_ENST00000371372.1_Missense_Mutation_p.E1517D|CACNA1B_ENST00000277551.2_Missense_Mutation_p.E1517D Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 1517 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) TCTCCATGGAATGCGTGCTGA 0.507000 4 43 0 0 1 0 0 TFE3 7030 broad.mit.edu 37 X 48887870 48887870 + Missense_Mutation SNP G G T TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chrX:48887870G>T ENST00000315869.7 - 10 1786 c.1527C>A c.(1525-1527)caC>caA p.H509Q TFE3_ENST00000493583.1_5'UTR NM_006521.4 NP_006512.2 P19532 TFE3_HUMAN transcription factor binding to IGHM enhancer 3 509 humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167) central_nervous_system(1) 1 GGTCCCCCAGGTGGTCGCTGG 0.672000 T """SFPQ, ASPSCR1, PRCC, NONO, CLTC""" """papillary renal, alveolar soft part sarcoma, renal""" 16 127 8.10497e-08 8.70982e-08 1 1 0 GALNT13 114805 broad.mit.edu 37 2 155306962 155306962 + Missense_Mutation SNP G G C TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr2:155306962G>C ENST00000392825.3 + 13 2137 c.1570G>C c.(1570-1572)Gat>Cat p.D524H GALNT13_ENST00000409237.1_3'UTR|AC009227.2_ENST00000434635.1_RNA NM_052917.2 NP_443149.2 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) 524 Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 65 CCAATGTCTCGATGAACCTTC 0.438000 30 60 0 0 1 0 0 ACTR3C 653857 broad.mit.edu 37 7 149990490 149990490 + Missense_Mutation SNP C C T TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr7:149990490C>T ENST00000539352.1 - 3 315 c.64G>A c.(64-66)Gca>Aca p.A22T ACTR3C_ENST00000252071.4_Missense_Mutation_p.A22T NM_001164458.1 NP_001157930.1 Q9C0K3 ARP3C_HUMAN ARP3 actin-related protein 3 homolog C (yeast) 22 regulation of actin filament polymerization cytoskeleton actin binding|ATP binding GTCCAAGATGCCGCCAAGGCC 0.507000 3 20 0 0 1 0 0 GALNT18 374378 broad.mit.edu 37 11 11642953 11642953 + Missense_Mutation SNP A A G TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr11:11642953A>G ENST00000227756.4 - 1 599 c.188T>C c.(187-189)aTt>aCt p.I63T GALNT18_ENST00000526064.1_5'UTR NM_198516.2 NP_940918.2 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18 CAGCCGCTCAATAATCTTCAG 0.622000 52 110 0 0 1 0 0 GIF 2694 broad.mit.edu 37 11 59611461 59611461 + Silent SNP T T C TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr11:59611461T>C ENST00000541311.1 - 2 306 c.72A>G c.(70-72)tcA>tcG p.S24S GIF_ENST00000257248.2_Silent_p.S49S P27352 IF_HUMAN gastric intrinsic factor (vitamin B synthesis) 49 cobalamin metabolic process|cobalamin transport|cobalt ion transport apical plasma membrane|endosome|extracellular space|microvillus cobalamin binding large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 17 GGTAGGCTGATGAAGTCACCG 0.522000 14 51 0 0 1 0 0 SCN2A 6326 broad.mit.edu 37 2 166170182 166170182 + Missense_Mutation SNP G G A TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr2:166170182G>A ENST00000375437.2 + 9 1377 c.1087G>A c.(1087-1089)Ggc>Agc p.G363S SCN2A_ENST00000375427.2_Missense_Mutation_p.G363S|SCN2A_ENST00000283256.6_Missense_Mutation_p.G363S|SCN2A_ENST00000357398.3_Missense_Mutation_p.G363S NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 363 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) CCCCAACTATGGCTACACGAG 0.433000 29 60 0 0 1 0 0 PRX 57716 broad.mit.edu 37 19 40899883 40899883 + Missense_Mutation SNP G G A TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr19:40899883G>A ENST00000324001.7 - 7 4646 c.4376C>T c.(4375-4377)gCg>gTg p.A1459V PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 1459 axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) TCAGACAGCCGCAGCCTGAGC 0.617000 3 51 0 0 1 0 0 LILRA1 11024 broad.mit.edu 37 19 55105741 55105741 + Missense_Mutation SNP T T A TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr19:55105741T>A ENST00000453777.1 + 2 202 c.32T>A c.(31-33)cTc>cAc p.L11H LILRA1_ENST00000473156.1_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.L11H|LILRB1_ENST00000418536.2_Intron NM_001278318.1 NP_001265247.1 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 11 cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) CTGATCTGTCTCAGTGAGATT 0.587000 51 62 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 4 72 0 0 1 0 0 COL6A1 1291 broad.mit.edu 37 21 47409674 47409674 + Silent SNP A A G TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr21:47409674A>G ENST00000361866.3 + 11 1026 c.912A>G c.(910-912)aaA>aaG p.K304K NM_001848.2 NP_001839.2 P12109 CO6A1_HUMAN collagen, type VI, alpha 1 304 Triple-helical region. axon guidance|cell adhesion|protein heterotrimerization collagen type VI|protein complex platelet-derived growth factor binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(128;0.24) Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649) Palifermin(DB00039) AGGGAGAAAAAGGGAGCCGTG 0.637000 3 111 0 0 1 0 0 ROR2 4920 broad.mit.edu 37 9 94486807 94486807 + Missense_Mutation SNP G G A TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr9:94486807G>A ENST00000375708.3 - 9 2167 c.1969C>T c.(1969-1971)Cgc>Tgc p.R657C ROR2_ENST00000375715.1_Missense_Mutation_p.R517C|ROR2_ENST00000550066.1_5'UTR NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 657 Protein kinase. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 GCCATCCAGCGGATAGGCAGC 0.572000 3 40 0 0 1 0 0 HIVEP3 59269 broad.mit.edu 37 1 42048876 42048876 + Silent SNP G G A TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr1:42048876G>A ENST00000372584.1 - 3 2607 c.1593C>T c.(1591-1593)acC>acT p.T531T HIVEP3_ENST00000372583.1_Silent_p.T531T|HIVEP3_ENST00000247584.5_Silent_p.T531T|HIVEP3_ENST00000429157.2_Silent_p.T531T NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 531 No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) CAGGGGGGGCGGTACTGGGCG 0.607000 3 63 0 0 1 0 0 TBCK 93627 broad.mit.edu 37 4 107229997 107229997 + Missense_Mutation SNP G G A TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr4:107229997G>A ENST00000273980.4 - 3 568 c.121C>T c.(121-123)Cgc>Tgc p.R41C TBCK_ENST00000394706.3_Missense_Mutation_p.R41C|TBCK_ENST00000394708.2_Missense_Mutation_p.R41C|TBCK_ENST00000432496.2_Missense_Mutation_p.R41C|TBCK_ENST00000361687.4_Missense_Mutation_p.R41C Q8TEA7 TBCK_HUMAN TBC1 domain containing kinase 41 Protein kinase. intracellular Rab GTPase activator activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 25 ATTTGAAAGCGCCCTAAAATT 0.413000 24 63 0 0 1 0 0 HIST1H4E 8367 broad.mit.edu 37 6 26204972 26204972 + Missense_Mutation SNP G G C TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr6:26204972G>C ENST00000360441.4 + 1 115 c.100G>C c.(100-102)Gcc>Ccc p.A34P NM_003545.3 NP_003536.1 P62805 H4_HUMAN histone cluster 1, H4e 34 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2) 18 all_hematologic(11;0.196) TACCAAGCCTGCCATCCGGCG 0.577000 4 100 0 0 1 0 0 ELANE 1991 broad.mit.edu 37 19 852925 852925 + Silent SNP C C T TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr19:852925C>T ENST00000590230.1 + 3 258 c.117C>T c.(115-117)caC>caT p.H39H ELANE_ENST00000263621.1_Silent_p.H39H P08246 ELNE_HUMAN elastase, neutrophil expressed 39 Peptidase S1. cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV cell surface|extracellular region|stored secretory granule bacterial cell surface binding|cytokine binding|heparin binding breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1) 13 Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019) CGCGGCCCCACGCGTGGCCCT 0.721000 6 22 0 0 1 0 0 BTG4 54766 broad.mit.edu 37 11 111365994 111365994 + Missense_Mutation SNP G G A rs140812937 TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr11:111365994G>A ENST00000356018.2 - 5 755 c.556C>T c.(556-558)Cgc>Tgc p.R186C NM_017589.3 NP_060059.1 Q9NY30 BTG4_HUMAN B-cell translocation gene 4 186 cell cycle arrest|negative regulation of cell proliferation|neuron differentiation p.R186C(1) large_intestine(2)|upper_aerodigestive_tract(1) 3 all_cancers(61;3.78e-13)|all_epithelial(67;5.29e-08)|Melanoma(852;3.15e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0204)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;1.22e-06)|BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|all cancers(92;2.18e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0509) TTCTTTTTGCGGGGGATTTGT 0.448000 25 50 0 0 1 0 0 FRK 2444 broad.mit.edu 37 6 116381344 116381344 + Missense_Mutation SNP C C T TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr6:116381344C>T ENST00000606080.1 - 1 577 c.131G>A c.(130-132)gGc>gAc p.G44D NM_002031.2 NP_002022.1 P42685 FRK_HUMAN fyn-related kinase 44 SH3. negative regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1) 27 all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465) all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625) AAAGTAGTGGCCATGCCTCTG 0.517000 6 157 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577094 7577094 + Missense_Mutation SNP G G A rs28934574 TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr17:7577094G>A ENST00000420246.2 - 8 976 c.844C>T c.(844-846)Cgg>Tgg p.R282W TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000269305.4_Missense_Mutation_p.R282W NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 282 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574). 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.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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) TCTGTGCGCCGGTCTCTCCCA 0.557000 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) 20 44 0 0 1 0 0 RPS6KA3 6197 broad.mit.edu 37 X 20205954 20205954 + Missense_Mutation SNP C C A TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chrX:20205954C>A ENST00000379565.3 - 9 973 c.766G>T c.(766-768)Gtg>Ttg p.V256L RPS6KA3_ENST00000544447.1_Missense_Mutation_p.V228L|RPS6KA3_ENST00000540702.1_Missense_Mutation_p.V228L|RPS6KA3_ENST00000379548.4_Missense_Mutation_p.V227L NM_004586.2 NP_004577.1 P51812 KS6A3_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 3 256 Protein kinase 1. axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity p.V256M(1) breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1) 41 ACCATTAACACACCAAAAGAC 0.388000 68 189 1.10345e-40 1.24139e-40 1 1 0 PKD1L1 168507 broad.mit.edu 37 7 47840379 47840379 + Silent SNP G G A rs138774842 TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr7:47840379G>A ENST00000289672.2 - 54 8111 c.8061C>T c.(8059-8061)ccC>ccT p.P2687P C7orf69_ENST00000418326.2_Intron|C7orf69_ENST00000258776.4_Intron NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 2687 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 ACAGCAGCCCGGGGAAGGCGT 0.567000 42 107 0 0 1 0 0 WWC3 55841 broad.mit.edu 37 X 10085535 10085535 + Missense_Mutation SNP C C T TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chrX:10085535C>T ENST00000380861.4 + 11 1827 c.1436C>T c.(1435-1437)tCg>tTg p.S479L WWC3_ENST00000454666.1_Missense_Mutation_p.S479L NM_015691.3 NP_056506.2 Q9ULE0 WWC3_HUMAN WWC family member 3 479 NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 52 TCACGGGACTCGCCGCTGGCG 0.706000 7 16 0 0 1 0 0 PKN1 5585 broad.mit.edu 37 19 14557260 14557260 + Missense_Mutation SNP C C A TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr19:14557260C>A ENST00000242783.6 + 4 662 c.497C>A c.(496-498)gCc>gAc p.A166D PKN1_ENST00000342216.4_Missense_Mutation_p.A172D|PKN1_ENST00000587429.1_3'UTR NM_002741.3 NP_002732.3 Q16512 PKN1_HUMAN protein kinase N1 166 activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent endosome|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1) 31 CTGCTGACAGCCCAGCAGATG 0.612000 6 126 3.59834e-05 3.75479e-05 1 1 0 ATP2B3 492 broad.mit.edu 37 X 152827614 152827614 + Missense_Mutation SNP G G A TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chrX:152827614G>A ENST00000370186.1 + 18 3357 c.3031G>A c.(3031-3033)Ggg>Agg p.G1011R ATP2B3_ENST00000393842.1_Missense_Mutation_p.G1011R|ATP2B3_ENST00000370181.2_Missense_Mutation_p.G1011R|ATP2B3_ENST00000359149.3_Missense_Mutation_p.G1025R|ATP2B3_ENST00000349466.2_Missense_Mutation_p.G1025R|ATP2B3_ENST00000263519.4_Missense_Mutation_p.G1025R Q16720 AT2B3_HUMAN ATPase, Ca++ transporting, plasma membrane 3 1025 ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding p.G1025W(3)|p.G1011W(1) NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3) 50 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCAGTTTGGCGGGAAGCCCTT 0.612000 6 395 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114270000 114270000 + Silent SNP G G A TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr7:114270000G>A ENST00000393500.3 + 11 1132 c.312G>A c.(310-312)caG>caA p.Q104Q FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q O15409 FOXP2_HUMAN forkhead box P2 179 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding p.Q204Q(1) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 agcaacaacagcagcagcagc 0.498000 4 38 0 0 1 0 0 RLF 6018 broad.mit.edu 37 1 40701977 40701978 + Frame_Shift_Del DEL AA AA - TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr1:40701977_40701978delAA ENST00000372771.4 + 8 1630_1631 c.1603_1604delAA c.(1603-1605)afs p.K535fs NM_012421.3 NP_036553.2 Q13129 RLF_HUMAN rearranged L-myc fusion 535 chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2) 68 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) GCATAAGGAGAAAAGAGACAAA 0.356 29 31 --- --- --- --- FUBP1 8880 broad.mit.edu 37 1 78433848 78433851 + Splice_Site DEL CAGT CAGT - TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr1:78433848_78433851delCAGT ENST00000370767.1 - 3 335_338 c.250_splice c.e3+1 p.83_splice FUBP1_ENST00000370768.2_Splice_Site_p.83_splice|FUBP1_ENST00000436586.2_Splice_Site_p.104_splice Q96AE4 FUBP1_HUMAN far upstream element (FUSE) binding protein 1 83 transcription from RNA polymerase II promoter nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding p.?(1) central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3) 17 GGAATACTTACAGTCATTTTGAGG 0.319 """F, N""" oligodendroglioma 8 14 --- --- --- --- ALMS1 7840 broad.mit.edu 37 2 73746974 73746976 + In_Frame_Del DEL AAC AAC - TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr2:73746974_73746976delAAC ENST00000264448.6 + 11 9720_9722 c.9609_9611delAAC c.(9607-9612)ata>at p.IT3203del ALMS1_ENST00000409009.1_In_Frame_Del_p.IT3161del NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 3203 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 TCACTCAGATAACAACAGAAAGT 0.384 12 42 --- --- --- --- EPC2 26122 broad.mit.edu 37 2 149539217 149539218 + Frame_Shift_Del DEL AG AG - TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr2:149539217_149539218delAG ENST00000258484.6 + 11 1759_1760 c.1725_1726delAG c.(1723-1728)acggfs p.TG575fs NM_015630.3 NP_056445.3 Q52LR7 EPC2_HUMAN enhancer of polycomb homolog 2 (Drosophila) 575 chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.0516) TACCAGTAACAGGGGGTATCAC 0.376 16 32 --- --- --- --- CRIPAK 285464 broad.mit.edu 37 4 1388441 1388442 + Frame_Shift_Ins INS - - CG rs144787346 byFrequency TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr4:1388441_1388442insCG ENST00000324803.4 + 1 3102_3103 c.142_143insCG c.(142-144)gccfs p.A48fs NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 48 ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) CTGCTCACACATGCCCATGTGG 0.644 12 1105 --- --- --- --- SKIV2L2 23517 broad.mit.edu 37 5 54706365 54706367 + In_Frame_Del DEL CTT CTT - TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr5:54706365_54706367delCTT ENST00000230640.5 + 23 2913_2915 c.2659_2661delCTT c.(2659-2661)del p.L888del SKIV2L2_ENST00000545714.1_In_Frame_Del_p.L787del NM_015360.4 NP_056175.3 P42285 SK2L2_HUMAN superkiller viralicidic activity 2-like 2 (S. cerevisiae) 888 maturation of 5.8S rRNA catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194) TGATGAGCTCCTTCTAACTGAGA 0.350 31 105 --- --- --- --- IPO11 51194 broad.mit.edu 37 5 61779947 61779949 + In_Frame_Del DEL GAA GAA - TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr5:61779947_61779949delGAA ENST00000325324.6 + 11 1301_1303 c.1132_1134delGAA c.(1132-1134)del p.E380del KIF2A_ENST00000509663.2_Intron|IPO11_ENST00000409296.3_In_Frame_Del_p.E420del NM_016338.4 NP_057422.3 Q9UI26 IPO11_HUMAN importin 11 380 cytoplasm|nucleus protein binding endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2) 30 Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077) Lung(70;0.0613) CCTATTAACTGAAGAAGAACTGA 0.330 18 43 --- --- --- --- PIK3R1 5295 broad.mit.edu 37 5 67589550 67589552 + In_Frame_Del DEL AAG AAG - TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr5:67589550_67589552delAAG ENST00000521381.1 + 11 1929_1931 c.1313_1315delAAG c.(1312-1317)aaa>a p.KE438del PIK3R1_ENST00000396611.1_In_Frame_Del_p.KE438del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.KE75del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.KE438del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.KE438del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.KE138del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.KE168del NM_181523.2 NP_852664.1 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 (alpha) 438 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.0?(1)|p.?(1) breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 178 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) CAAGTTGTCAAAGAAGATAATAT 0.266 """Mis, F, O""" """gliobastoma, ovarian, colorectal""" TCGA GBM(4;<1E-08) 10 26 --- --- --- --- PIK3R1 5295 broad.mit.edu 37 5 67589623 67589624 + Frame_Shift_Del DEL AT AT - TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr5:67589623_67589624delAT ENST00000521381.1 + 11 2002_2003 c.1386_1387delAT c.(1384-1389)gaatfs p.EY462fs PIK3R1_ENST00000396611.1_Frame_Shift_Del_p.EY462fs|PIK3R1_ENST00000523872.1_Frame_Shift_Del_p.EY99fs|PIK3R1_ENST00000521657.1_Frame_Shift_Del_p.EY462fs|PIK3R1_ENST00000274335.5_Frame_Shift_Del_p.EY462fs|PIK3R1_ENST00000320694.8_Frame_Shift_Del_p.EY162fs|PIK3R1_ENST00000336483.5_Frame_Shift_Del_p.EY192fs NM_181523.2 NP_852664.1 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 (alpha) 462 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.D464fs*2(1)|p.0?(1)|p.?(1)|p.Y463fs*1(1)|p.E462_R465delEYDR(1)|p.Y463_L466del(1)|p.T454_D464del(1) breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 178 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) AAAGTCGAGAATATGATAGATT 0.287 """Mis, F, O""" """gliobastoma, ovarian, colorectal""" TCGA GBM(4;<1E-08) 17 37 --- --- --- --- TCP1 6950 broad.mit.edu 37 6 160201521 160201523 + In_Frame_Del DEL CTT CTT - rs147802495 TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr6:160201521_160201523delCTT ENST00000321394.7 - 9 1329_1331 c.1049_1051delAAG c.(1048-1053)gtg>g p.EV350del TCP1_ENST00000392168.2_In_Frame_Del_p.EV195del|TCP1_ENST00000420894.2_In_Frame_Del_p.EV350del|TCP1_ENST00000544255.1_In_Frame_Del_p.EV126del NM_030752.2 NP_110379.2 P17987 TCPA_HUMAN t-complex 1 350 'de novo' posttranslational protein folding|tubulin complex assembly cell junction|Golgi apparatus ATP binding|unfolded protein binding breast(1)|endometrium(4)|large_intestine(3)|lung(2) 10 Breast(66;1.53e-05)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06) TCCTGTACCACTTCTTCTGCCTG 0.365 20 121 --- --- --- --- AEBP1 165 broad.mit.edu 37 7 44152194 44152196 + In_Frame_Del DEL AGA AGA - TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr7:44152194_44152196delAGA ENST00000223357.3 + 18 2560_2562 c.2255_2257delAGA c.(2254-2259)gag>g p.EK752del AEBP1_ENST00000450684.2_In_Frame_Del_p.EK327del NM_001129.3 NP_001120.3 Q8IUX7 AEBP1_HUMAN AE binding protein 1 752 Interaction with PTEN (By similarity). cell adhesion|muscle organ development|proteolysis|skeletal system development cytoplasm|extracellular space|nucleus DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2) 33 GCCTGGATGGAGAAGAACCCCTT 0.640 11 133 --- --- --- --- PRSS3P2 0 broad.mit.edu 37 7 142481996 142481997 + RNA INS - - C TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr7:142481996_142481997insC ENST00000603901.1 + 0 591 NR_001296.3 TCCCAAGGTGGGGGGCTGAGGA 0.564 9 19 --- --- --- --- ZHX2 22882 broad.mit.edu 37 8 123965332 123965333 + Frame_Shift_Del DEL TT TT - TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr8:123965332_123965333delTT ENST00000314393.4 + 3 2417_2418 c.1582_1583delTT c.(1582-1584)tfs p.F528fs NM_014943.3 NP_055758.1 Q9Y6X8 ZHX2_HUMAN zinc fingers and homeoboxes 2 528 cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 45 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) GTACCCAGACTTTGCCCCCCAG 0.515 17 121 --- --- --- --- NOTCH1 4851 broad.mit.edu 37 9 139413070 139413072 + In_Frame_Del DEL AGA AGA - TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr9:139413070_139413072delAGA ENST00000277541.6 - 6 1145_1147 c.1070_1072delTCT c.(1069-1074)tac>t p.FY357del NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 357 EGF-like 9; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity p.F357delF(4) breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) CACTCGCAGTAGAAGGAGGCCAC 0.655 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 12 44 --- --- --- --- INA 9118 broad.mit.edu 37 10 105048271 105048273 + In_Frame_Del DEL GAG GAG - TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr10:105048271_105048273delGAG ENST00000369849.4 + 3 1394_1396 c.1345_1347delGAG c.(1345-1347)del p.E454del NM_032727.3 NP_116116.1 Q16352 AINX_HUMAN internexin neuronal intermediate filament protein, alpha 454 Poly-Glu.|Tail. cell differentiation|nervous system development neurofilament structural constituent of cytoskeleton p.E449_E450delEE(1) breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2) 13 Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198) ACTTAAGAAAGAGGAGGAGGAGG 0.458 8 134 --- --- --- --- RAD9A 5883 broad.mit.edu 37 11 67163284 67163286 + In_Frame_Del DEL GAG GAG - TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr11:67163284_67163286delGAG ENST00000307980.2 + 6 640_642 c.547_549delGAG c.(547-549)del p.E185del RAD9A_ENST00000535644.1_3'UTR NM_001243224.1|NM_004584.2 NP_001230153.1|NP_004575.1 Q99638 RAD9A_HUMAN RAD9 homolog A (S. pombe) 185 DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint nucleoplasm 3'-5' exonuclease activity|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding|SH3 domain binding lung(7)|upper_aerodigestive_tract(1) 8 BRCA - Breast invasive adenocarcinoma(15;8.53e-07) CAGCTACCACGAGGAGGAGGCAG 0.660 Other conserved DNA damage response genes 18 54 --- --- --- --- PCNX 22990 broad.mit.edu 37 14 71443705 71443707 + In_Frame_Del DEL CTT CTT - rs147408993 byFrequency TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr14:71443705_71443707delCTT ENST00000304743.2 + 6 1097_1099 c.651_653delCTT c.(649-654)tcc>tc p.SF217del PCNX_ENST00000238570.5_In_Frame_Del_p.SF217del|PCNX_ENST00000439984.3_In_Frame_Del_p.SF217del NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) 217 integral to membrane NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) CCAATGACTCCTTCATCTCTATT 0.414 7 113 --- --- --- --- TTBK2 146057 broad.mit.edu 37 15 43045062 43045066 + Frame_Shift_Del DEL ACTTA ACTTA - TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr15:43045062_43045066delACTTA ENST00000267890.6 - 14 2486_2490 c.2378_2382delTAAGT c.(2377-2382)tfs p.LS793fs NM_173500.3 NP_775771.3 Q6IQ55 TTBK2_HUMAN tau tubulin kinase 2 793 cell death ATP binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 43 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) GCTGCCCTCTACTTAACTTCTCATC 0.400 27 85 --- --- --- --- IREB2 3658 broad.mit.edu 37 15 78764190 78764192 + In_Frame_Del DEL CCT CCT - TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr15:78764190_78764192delCCT ENST00000258886.8 + 7 956_958 c.807_809delCCT c.(805-810)gac>ga p.DL269del IREB2_ENST00000560440.1_In_Frame_Del_p.DL269del NM_004136.2 NP_004127.1 P48200 IREB2_HUMAN iron-responsive element binding protein 2 269 4 iron, 4 sulfur cluster binding|metal ion binding|protein binding central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 41 UCEC - Uterine corpus endometrioid carcinoma (272;0.232) AAGAAAAAGACCTCCTCTTCCCA 0.399 20 54 --- --- --- --- MT1L 4500 broad.mit.edu 37 16 56652490 56652490 + RNA DEL T T - TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr16:56652490delT ENST00000565768.1 + 0 181 NR_001447.2 metallothionein 1L (gene/pseudogene) TCACTCTCCCTTTTCCCCCAG 0.607 7 479 --- --- --- --- ACADVL 37 broad.mit.edu 37 17 7125570 7125572 + In_Frame_Del DEL AGG AGG - TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr17:7125570_7125572delAGG ENST00000356839.5 + 9 1006_1008 c.827_829delAGG c.(826-831)aag>a p.KE276del ACADVL_ENST00000350303.5_In_Frame_Del_p.KE254del|ACADVL_ENST00000543245.2_In_Frame_Del_p.KE299del NM_000018.3|NM_001270448.1 NP_000009.1|NP_001257377.1 P49748 ACADV_HUMAN acyl-CoA dehydrogenase, very long chain 276 Catalytic. energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis mitochondrial inner membrane|mitochondrial nucleoid long-chain-acyl-CoA dehydrogenase activity breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1) 21 GGAGCCGTGAAGGAGAAGATCAC 0.552 25 75 --- --- --- --- RP11-1055B8.7 0 broad.mit.edu 37 17 79428907 79428909 + In_Frame_Del DEL CAG CAG - TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr17:79428907_79428909delCAG ENST00000307745.7 + 30 7218_7220 c.7218_7220delCAG c.(7216-7221)ccc>cc p.PS2406del RP11-1055B8.8_ENST00000572590.1_RNA GCTCAGGCCCCAGCAGCAGCAGC 0.690 2 4 --- --- --- --- ROCK1P1 0 broad.mit.edu 37 18 112402 112405 + RNA DEL AACC AACC - rs113232824 TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr18:112402_112405delAACC ENST00000576266.1 + 0 36_39 CCCTGCCCCGAACCACCCGACCCC 0.711 5 10 --- --- --- --- TSHZ1 10194 broad.mit.edu 37 18 72997649 72997651 + In_Frame_Del DEL AGA AGA - TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr18:72997649_72997651delAGA ENST00000322038.5 + 2 736_738 c.152_154delAGA c.(151-156)gag>g p.EK51del TSHZ1_ENST00000580243.1_In_Frame_Del_p.EK96del NM_005786.5 NP_005777.3 Q6ZSZ6 TSH1_HUMAN teashirt zinc finger homeobox 1 96 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2) 42 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) TCTCGAGAAGAGAAGGAGGATCC 0.586 14 32 --- --- --- --- EID2B 126272 broad.mit.edu 37 19 40023078 40023081 + Frame_Shift_Del DEL ACAA ACAA - TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr19:40023078_40023081delACAA ENST00000326282.4 - 1 413_416 c.362_365delTTGT c.(361-366)tgfs p.FV121fs EID2B_ENST00000601837.1_Intron|CTB-60E11.9_ENST00000594676.1_RNA NM_152361.1 NP_689574.1 Q96D98 EID2B_HUMAN EP300 interacting inhibitor of differentiation 2B 121 cell differentiation|muscle organ development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus endometrium(1)|lung(1)|urinary_tract(1) 3 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) GCAGCCTTCCACAAACAGCCTGCG 0.574 18 45 --- --- --- --- TRIM28 10155 broad.mit.edu 37 19 59061018 59061021 + Splice_Site DEL GTGA GTGA - TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chr19:59061018_59061021delGTGA ENST00000253024.5 + 13 2271 c.e13+1 TRIM28_ENST00000341753.6_Splice_Site NM_005762.2 NP_005753.1 Q13263 TIF1B_HUMAN tripartite motif containing 28 epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent nucleoplasm chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179) ATGTACCAGGGTGAGTGTGAGGCT 0.574 87 141 --- --- --- --- PAGE1 8712 broad.mit.edu 37 X 49458759 49458760 + Frame_Shift_Del DEL TT TT - TCGA-DU-7300-01A-21D-2086-08 TCGA-DU-7300-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41bb7bd2-c24e-41ae-881d-25b44ae287ad 2de73131-9a0c-46fc-aa61-6d35f76f75d2 g.chrX:49458759_49458760delTT ENST00000376150.3 - 3 240_241 c.108_109delAA c.(106-111)cagtfs p.QS36fs NM_003785.3 NP_003776.2 O75459 GAGB1_HUMAN P antigen family, member 1 (prostate associated) 36 cellular defense response endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1) 7 Ovarian(276;0.236) GAATCCTGACTTTGAGTTGGTG 0.460 9 13 --- --- --- ---