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 ZNF845 91664 broad.mit.edu 37 19 53848784 53848784 + Missense_Mutation SNP C C T TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr19:53848784C>T ENST00000458035.1 + 3 158 c.41C>T c.(40-42)gCc>gTc p.A14V ZNF845_ENST00000595091.1_Missense_Mutation_p.A14V NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 14 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 AGGGATGTGGCCATAGAATTC 0.453000 35 652 0 0 1 0 0 RDX 5962 broad.mit.edu 37 11 110108327 110108327 + Nonsense_Mutation SNP G G A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr11:110108327G>A ENST00000343115.4 - 11 1460 c.1141C>T c.(1141-1143)Cga>Tga p.R381* RDX_ENST00000528498.1_Nonsense_Mutation_p.R381*|RDX_ENST00000544551.1_Nonsense_Mutation_p.R245*|RDX_ENST00000530301.1_Intron|RDX_ENST00000405097.1_Nonsense_Mutation_p.R381*|RDX_ENST00000528900.1_Nonsense_Mutation_p.R34* NM_001260494.1|NM_002906.3 NP_001247423.1|NP_002897.1 P35241 RADI_HUMAN radixin 381 Glu-rich. actin filament capping cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane actin binding endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 18 all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248) TCTTTTGCTCGTTTTCGTTCT 0.428000 34 422 0 0 1 0 0 ZACN 353174 broad.mit.edu 37 17 74077738 74077738 + Missense_Mutation SNP G G A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr17:74077738G>A ENST00000334586.5 + 7 865 c.782G>A c.(781-783)cGc>cAc p.R261H EXOC7_ENST00000332065.5_3'UTR|EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000589210.1_3'UTR|EXOC7_ENST00000607838.1_3'UTR NM_180990.3 NP_851321.2 Q401N2 ZACN_HUMAN zinc activated ligand-gated ion channel 261 Leu-rich. response to zinc ion integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 11 GCCATTGAGCGCATAGGCTAC 0.622000 6 683 0 0 1 0 0 IFNAR2 3455 broad.mit.edu 37 21 34634926 34634926 + Missense_Mutation SNP C C A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr21:34634926C>A ENST00000404220.3 + 9 1230 c.901C>A c.(901-903)Cta>Ata p.L301I IFNAR2_ENST00000342101.3_Intron|IFNAR2_ENST00000342136.4_Intron|IFNAR2_ENST00000413881.1_Intron|AP000295.9_ENST00000433395.2_Intron|IFNAR2_ENST00000382241.3_Intron|IFNAR2_ENST00000382264.3_Missense_Mutation_p.L301I P48551 INAR2_HUMAN interferon (alpha, beta and omega) receptor 2 0 JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway extracellular region|extracellular space|integral to plasma membrane protein kinase binding|type I interferon binding|type I interferon receptor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 11 Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022) tcataatgcactacagtctga 0.443000 3 27 6.4e-05 6.69224e-05 1 1 0 FRG1B 0 broad.mit.edu 37 20 29633900 29633900 + Missense_Mutation SNP A A G rs60081496 by1000genomes TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr20:29633900A>G ENST00000278882.3 + 9 919 c.539A>G c.(538-540)gAa>gGa p.E180G FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G p.E180G(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAAACAAGAGAACCAAATTGA 0.264000 6 217 0 0 1 0 0 PRPH2 5961 broad.mit.edu 37 6 42689575 42689575 + Silent SNP G G A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr6:42689575G>A ENST00000230381.5 - 1 737 c.498C>T c.(496-498)tgC>tgT p.C166C NM_000322.4 NP_000313.2 P23942 PRPH2_HUMAN peripherin 2 (retinal degeneration, slow) 166 cell adhesion|visual perception integral to membrane NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 18 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904) CGTTGTTGCCGCAGCATTTGA 0.507000 6 565 0 0 1 0 0 C3 718 broad.mit.edu 37 19 6692960 6692960 + Missense_Mutation SNP G G A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr19:6692960G>A ENST00000245907.6 - 26 3457 c.3365C>T c.(3364-3366)gCg>gTg p.A1122V NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 1122 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) TATCACGGGCGCATCCTCCTG 0.557000 6 864 0 0 1 0 0 TARBP2 6895 broad.mit.edu 37 12 53898955 53898955 + Missense_Mutation SNP C C T TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr12:53898955C>T ENST00000266987.2 + 7 1133 c.650C>T c.(649-651)gCg>gTg p.A217V TARBP2_ENST00000456234.2_Missense_Mutation_p.A196V|TARBP2_ENST00000552857.1_Intron|TARBP2_ENST00000394357.2_Missense_Mutation_p.A196V NM_134323.1 NP_599150.1 Q15633 TRBP2_HUMAN TAR (HIV-1) RNA binding protein 2 217 DRBM 2.|Sufficient for interaction with PRKRA. miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex double-stranded RNA binding|protein homodimerization activity|siRNA binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3) 10 AAGCGGAATGCGGCGGCCAAA 0.572000 5 618 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89386864 89386864 + Missense_Mutation SNP G G A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr15:89386864G>A ENST00000439576.2 + 6 1410 c.1036G>A c.(1036-1038)Gcc>Acc p.A346T ACAN_ENST00000559004.1_Missense_Mutation_p.A346T|ACAN_ENST00000558207.1_Missense_Mutation_p.A346T|ACAN_ENST00000561243.1_Missense_Mutation_p.A346T|ACAN_ENST00000352105.7_Missense_Mutation_p.A346T NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 346 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) CCGCTACGACGCCATCTGCTA 0.632000 5 475 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145325997 145325997 + Silent SNP A A G TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr1:145325997A>G ENST00000342960.5 + 30 3905 c.3870A>G c.(3868-3870)caA>caG p.Q1290Q NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 1290 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AAGTCTTGCAAGACTCACTGG 0.468000 4 193 0 0 1 0 0 TRBV11-2 0 broad.mit.edu 37 7 142197600 142197600 + RNA SNP G G A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr7:142197600G>A ENST00000471935.1 - 0 377 ATACACGGCCGAGTCCTCAAG 0.507000 38 908 0 0 1 0 0 MRPS5 64969 broad.mit.edu 37 2 95767442 95767442 + Missense_Mutation SNP G G A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr2:95767442G>A ENST00000272418.2 - 8 998 c.790C>T c.(790-792)Cgg>Tgg p.R264W NM_031902.3 NP_114108.1 P82675 RT05_HUMAN mitochondrial ribosomal protein S5 264 S5 DRBM. 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 GCATCCATCCGATCAGTAGCT 0.338000 8 108 0 0 1 0 0 EPHB1 2047 broad.mit.edu 37 3 134514513 134514513 + Missense_Mutation SNP G G A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr3:134514513G>A ENST00000398015.3 + 1 410 c.40G>A c.(40-42)Gca>Aca p.A14T EPHB1_ENST00000488154.1_3'UTR NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 14 integral to plasma membrane ATP binding|ephrin receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 CCTGGCATCCGCAGTGGCTGC 0.687000 6 710 0 0 1 0 0 ADAM21P1 0 broad.mit.edu 37 14 70714259 70714259 + RNA SNP A A G rs7144638 by1000genomes TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr14:70714259A>G ENST00000530196.1 - 0 259 NR_003951.1 CACCACTTCCAGGGAAGTGAA 0.527000 7 506 0 0 1 0 0 TTLL1 25809 broad.mit.edu 37 22 43459909 43459909 + Silent SNP G G A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr22:43459909G>A ENST00000331018.7 - 7 897 c.657C>T c.(655-657)tgC>tgT p.C219C TTLL1_ENST00000266254.7_Silent_p.C219C O95922 TTLL1_HUMAN tubulin tyrosine ligase-like family, member 1 219 TTL. protein polyglutamylation cytoplasm|microtubule ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1) 23 Ovarian(80;0.0694) BRCA - Breast invasive adenocarcinoma(115;0.00461) TGCAGAACCGGCAAAACCCAA 0.458000 6 583 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139165382 139165382 + Missense_Mutation SNP C C T TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr8:139165382C>T ENST00000395297.1 - 13 1506 c.1336G>A c.(1336-1338)Gat>Aat p.D446N NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 446 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) ATACAGTTATCTTCCTTGTCT 0.328000 HNSCC(54;0.14) 20 227 0 0 1 0 0 GLIS1 148979 broad.mit.edu 37 1 53975547 53975547 + Silent SNP T T G TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr1:53975547T>G ENST00000312233.2 - 8 2078 c.1512A>C c.(1510-1512)ccA>ccC p.P504P NM_147193.2 NP_671726.2 Q8NBF1 GLIS1_HUMAN GLIS family zinc finger 1 504 Pro-rich. negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4) 24 GAGGCGGGGGTGGAGGGCTCT 0.672000 21 94 0 0 1 0 0 DCP1B 196513 broad.mit.edu 37 12 2062350 2062350 + Missense_Mutation SNP C C G TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr12:2062350C>G ENST00000280665.6 - 7 835 c.756G>C c.(754-756)caG>caC p.Q252H DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H|DCP1B_ENST00000541700.1_5'UTR NM_152640.3 NP_689853.3 Q8IZD4 DCP1B_HUMAN decapping mRNA 1B 252 Poly-Gln. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus hydrolase activity|protein binding p.Q252H(8) NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1) 24 OV - Ovarian serous cystadenocarcinoma(31;0.00193) gctgctgctgctgGTGGAGAG 0.552000 8 280 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53855284 53855284 + Silent SNP G G A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr19:53855284G>A ENST00000458035.1 + 4 1473 c.1356G>A c.(1354-1356)tcG>tcA p.S452S ZNF845_ENST00000595091.1_Silent_p.S452S NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 452 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S452S(2) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 GTTTCAAATCGAACCTTGAAA 0.398000 5 293 0 0 1 0 0 YTHDF1 54915 broad.mit.edu 37 20 61834082 61834082 + Missense_Mutation SNP G G A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr20:61834082G>A ENST00000370339.3 - 4 1551 c.1210C>T c.(1210-1212)Cgc>Tgc p.R404C YTHDF1_ENST00000370333.4_Missense_Mutation_p.R354C|YTHDF1_ENST00000370334.4_Intron NM_017798.3 NP_060268.2 Q9BYJ9 YTHD1_HUMAN YTH domain family, member 1 404 YTH. NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2) 24 TTAATGGAGCGGTGGATGTCG 0.552000 36 515 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S 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 10 315 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39833893 39833893 + Missense_Mutation SNP C C T TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr1:39833893C>T ENST00000564288.1 + 50 13622 c.12845C>T c.(12844-12846)tCt>tTt p.S4282F MACF1_ENST00000361689.2_Missense_Mutation_p.S2220F|MACF1_ENST00000372915.3_Missense_Mutation_p.S4287F|MACF1_ENST00000567887.1_Missense_Mutation_p.S4319F|MACF1_ENST00000545844.1_Missense_Mutation_p.S2220F|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000289893.4_Missense_Mutation_p.S2722F|MACF1_ENST00000539005.1_Missense_Mutation_p.S2220F|MACF1_ENST00000317713.7_Missense_Mutation_p.S2220F Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 4287 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GAACTGAGCTCTTGTGGCTTT 0.448000 25 342 0 0 1 0 0 MIR329-1 0 broad.mit.edu 37 14 101493161 101493161 + RNA SNP A A T TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr14:101493161A>T ENST00000385028.1 + 0 40 NR_029967.1 TGTTTCTTTAATGAGGACGAA 0.468000 8 608 0 0 1 0 0 NSD1 64324 broad.mit.edu 37 5 176562809 176562809 + Silent SNP A A G TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr5:176562809A>G ENST00000439151.2 + 2 750 c.705A>G c.(703-705)acA>acG p.T235T NSD1_ENST00000511258.1_Intron|NSD1_ENST00000354179.4_Intron|NSD1_ENST00000347982.4_Intron|NSD1_ENST00000361032.4_Silent_p.T235T NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 235 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) AGACTGAAACACAGAAAAATA 0.458000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 25 283 0 0 1 0 0 KIAA0430 9665 broad.mit.edu 37 16 15729930 15729930 + Silent SNP C C T TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr16:15729930C>T ENST00000396368.3 - 3 620 c.414G>A c.(412-414)tcG>tcA p.S138S KIAA0430_ENST00000551742.1_Silent_p.S138S|KIAA0430_ENST00000602337.1_Silent_p.S138S|KIAA0430_ENST00000344181.3_5'UTR|KIAA0430_ENST00000548025.1_Silent_p.S138S|KIAA0430_ENST00000540441.2_Silent_p.S138S NM_001184998.1|NM_001184999.1|NM_014647.3 NP_001171927.1|NP_001171928.1|NP_055462.2 Q9Y4F3 LKAP_HUMAN KIAA0430 137 peroxisome nucleotide binding|RNA binding breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1) 40 TGGTGCTTTGCGAGTCTAACA 0.547000 7 745 0 0 1 0 0 GCN1L1 10985 broad.mit.edu 37 12 120602186 120602186 + Missense_Mutation SNP G G A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr12:120602186G>A ENST00000300648.6 - 18 1814 c.1802C>T c.(1801-1803)gCg>gTg p.A601V NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 601 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GAGTCCGTGCGCCAGCTTAAA 0.612000 6 639 0 0 1 0 0 SPRED1 161742 broad.mit.edu 37 15 38643373 38643373 + Missense_Mutation SNP G G C TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr15:38643373G>C ENST00000299084.4 + 7 1703 c.843G>C c.(841-843)caG>caC p.Q281H NM_152594.2 NP_689807.1 Q7Z699 SPRE1_HUMAN sprouty-related, EVH1 domain containing 1 281 KBD. inactivation of MAPK activity|multicellular organismal development caveola|nucleus stem cell factor receptor binding kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244) CCAGTATTCAGTTTTCTAAAC 0.398000 Legius syndrome 32 297 0 0 1 0 0 KLK11 11012 broad.mit.edu 37 19 51527499 51527499 + Missense_Mutation SNP C C T TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr19:51527499C>T ENST00000594768.1 - 4 546 c.361G>A c.(361-363)Gcc>Acc p.A121T KLK11_ENST00000594458.1_5'UTR|KLK11_ENST00000453757.3_Missense_Mutation_p.A89T|KLK11_ENST00000600362.1_Intron|KLK11_ENST00000391804.3_Missense_Mutation_p.A114T|KLK11_ENST00000319720.7_Missense_Mutation_p.A89T NM_144947.1 NP_659196.1 Q9UBX7 KLK11_HUMAN kallikrein-related peptidase 11 121 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1) 7 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878) GACTCAGTGGCTGTCCGGGTC 0.582000 24 517 0 0 1 0 0 KRTAP5-10 387273 broad.mit.edu 37 11 71276918 71276918 + Silent SNP C C T rs36179995 TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr11:71276918C>T ENST00000398531.1 + 1 310 c.285C>T c.(283-285)ggC>ggT p.G95G KRTAP5-10_ENST00000376536.4_Intron NM_001012710.1 NP_001012728.1 Q6L8G5 KR510_HUMAN keratin associated protein 5-10 95 7 X 4 AA repeats of C-C-X-P. keratin filament p.G95G(1) endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 12 GGGGCTGTGGCTCCTGTGGGG 0.687000 14 1105 0 0 1 0 0 CCDC60 160777 broad.mit.edu 37 12 119909828 119909828 + Missense_Mutation SNP G G A rs144740799 byFrequency TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr12:119909828G>A ENST00000327554.2 + 3 665 c.200G>A c.(199-201)cGt>cAt p.R67H RP11-768F21.1_ENST00000509470.2_lincRNA|CCDC60_ENST00000546345.1_3'UTR NM_178499.3 NP_848594.2 Q8IWA6 CCD60_HUMAN coiled-coil domain containing 60 67 endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) AAGATAGGCCGTGGATATTTT 0.468000 21 399 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21882220 21882220 + Missense_Mutation SNP C C G TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr7:21882220C>G ENST00000328843.6 + 67 10802 c.10771C>G c.(10771-10773)Cac>Gac p.H3591D DNAH11_ENST00000409508.3_Missense_Mutation_p.H3584D Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 3591 AAA 5 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 CCTTATCCTTCACACAAAATT 0.413000 Kartagener syndrome 12 179 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 6 695 0 0 1 0 0 IFITM3 10410 broad.mit.edu 37 11 320649 320649 + Silent SNP G G A rs11553885 by1000genomes TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr11:320649G>A ENST00000399808.4 - 1 401 c.165C>T c.(163-165)ccC>ccT p.P55P IFITM3_ENST00000602735.1_Silent_p.P34P|RP11-326C3.11_ENST00000602756.1_RNA|IFITM3_ENST00000526811.1_Silent_p.P34P|RP11-326C3.11_ENST00000602429.1_RNA NM_021034.2 NP_066362.2 Q01628 IFM3_HUMAN interferon induced transmembrane protein 3 55 response to virus|type I interferon-mediated signaling pathway integral to membrane|plasma membrane p.P55P(5) central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1) 18 all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122) CGACATGGTCGGGCACGGAGG 0.637000 9 623 0 0 1 0 0 SMARCA4 6597 broad.mit.edu 37 19 11143994 11143994 + Missense_Mutation SNP G G A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr19:11143994G>A ENST00000358026.2 + 26 3859 c.3575G>A c.(3574-3576)cGc>cAc p.R1192H SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1192H|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1192H|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1192H|SMARCA4_ENST00000429416.3_Missense_Mutation_p.R1192H|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1192H|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1192H|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1192H|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1192H NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 1192 Helicase C-terminal. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) CGAGCCCACCGCATCGGGCAG 0.612000 """F, N, Mis""" NSCLC 18 371 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E 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 12 318 0 0 1 0 0 ARHGAP17 55114 broad.mit.edu 37 16 24942323 24942323 + Missense_Mutation SNP A A G TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr16:24942323A>G ENST00000289968.6 - 19 2366 c.2297T>C c.(2296-2298)cTa>cCa p.L766P ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.L688P NM_001006634.1 NP_001006635.1 Q68EM7 RHG17_HUMAN Rho GTPase activating protein 17 766 Pro-rich. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|tight junction GTPase activator activity|SH3 domain binding breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2) 30 GBM - Glioblastoma multiforme(48;0.0407) CTGTTTTCCTAGGGGCGGAGT 0.617000 71 707 0 0 1 0 0 SLC5A3 6526 broad.mit.edu 37 21 35468701 35468701 + Missense_Mutation SNP G G A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr21:35468701G>A ENST00000381151.3 + 2 1716 c.1204G>A c.(1204-1206)Gca>Aca p.A402T MRPS6_ENST00000399312.2_Intron NM_006933.4 NP_008864.3 P53794 SC5A3_HUMAN solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 402 integral to plasma membrane myo-inositol:sodium symporter activity breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 20 CCGCAAGAGCGCAAGCTCCCG 0.478000 5 363 0 0 1 0 0 LINGO1 84894 broad.mit.edu 37 15 77907604 77907604 + Silent SNP G G A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr15:77907604G>A ENST00000355300.6 - 2 819 c.645C>T c.(643-645)caC>caT p.H215H LINGO1_ENST00000561030.1_Silent_p.H209H NM_032808.5 NP_116197.4 Q96FE5 LIGO1_HUMAN leucine rich repeat and Ig domain containing 1 215 negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 31 CGATGAGGCCGTGCAGGTGGG 0.607000 5 522 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664603 22664603 + RNA SNP T T C TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr22:22664603T>C ENST00000426066.1 + 0 784 NR_027293.1 ATTGTCTTCATGCAAACTTGG 0.388000 5 114 0 0 1 0 0 ARHGAP10 79658 broad.mit.edu 37 4 148944528 148944528 + Missense_Mutation SNP G G A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr4:148944528G>A ENST00000336498.3 + 19 2070 c.1831G>A c.(1831-1833)Gtg>Atg p.V611M ARHGAP10_ENST00000414545.2_Missense_Mutation_p.V260M NM_024605.3 NP_078881.3 A1A4S6 RHG10_HUMAN Rho GTPase activating protein 10 611 apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm|plasma membrane cytoskeletal adaptor activity|SH3 domain binding autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 33 all_hematologic(180;0.151) Renal(17;0.0166) GBM - Glioblastoma multiforme(119;0.0423) CAAGAGGCCCGTGGCCGTCTA 0.502000 31 396 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152082320 152082320 + Missense_Mutation SNP T T C TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr1:152082320T>C ENST00000368804.1 - 2 3372 c.3373A>G c.(3373-3375)Aga>Gga p.R1125G NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1125 10 X 30 AA tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) cgttcctctctcagcagctgc 0.612000 9 778 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628320 29628320 + Nonsense_Mutation SNP G G T TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr20:29628320G>T ENST00000278882.3 + 6 702 c.322G>T c.(322-324)Gaa>Taa p.E108* FRG1B_ENST00000439954.2_Nonsense_Mutation_p.E113*|FRG1B_ENST00000358464.4_Nonsense_Mutation_p.E108* endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AGGAGAAGAAGAAATGATCAA 0.373000 8 305 0.000151284 0.000157473 1 1 0 TUBB8P7 0 broad.mit.edu 37 16 90161014 90161014 + RNA SNP G G A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr16:90161014G>A ENST00000564451.1 + 0 894 TUBB8P7_ENST00000567960.1_RNA GGGGCCCTTCGGGCAGGTCTT 0.667000 26 619 0 0 1 0 0 OR10C1 442194 broad.mit.edu 37 6 29408019 29408019 + Missense_Mutation SNP C C T TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr6:29408019C>T ENST00000444197.2 + 1 937 c.227C>T c.(226-228)aCg>aTg p.T76M OR11A1_ENST00000377149.1_Intron NM_013941.3 NP_039229.3 Q96KK4 O10C1_HUMAN olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene) 76 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 ACGTCTGTCACGGTCCCCCTG 0.577000 38 515 0 0 1 0 0 TMPRSS11F 389208 broad.mit.edu 37 4 68995528 68995528 + Splice_Site SNP G G A rs142296401 byFrequency TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr4:68995528G>A ENST00000356291.2 - 1 70 c.11_splice c.e1+1 p.A4_splice NM_207407.2 NP_997290.2 Q6ZWK6 TM11F_HUMAN transmembrane protease, serine 11F 4 A -> T (in dbSNP:rs10030708). proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4) 39 GAATACTTACGCGTACATCAT 0.448000 24 298 0 0 1 0 0 RP11-69H14.6 0 broad.mit.edu 37 15 22332570 22332570 + RNA SNP T T C TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr15:22332570T>C ENST00000558896.1 + 0 377 CCCATGCTCATCTGCTCCAAT 0.398000 7 615 0 0 1 0 0 MUC7 4589 broad.mit.edu 37 4 71347185 71347185 + Missense_Mutation SNP T T C rs79807294 by1000genomes TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr4:71347185T>C ENST00000413702.1 + 4 1012 c.724T>C c.(724-726)Tct>Cct p.S242P MUC7_ENST00000304887.5_Missense_Mutation_p.S242P|MUC7_ENST00000456088.1_Missense_Mutation_p.S242P NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 242 Thr-rich. extracellular region protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) ACCCACACCTTCTGCAACTAC 0.592000 6 979 0 0 1 0 0 SMARCA2 6595 broad.mit.edu 37 9 2039779 2039779 + Silent SNP G G A rs113070757 byFrequency TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr9:2039779G>A ENST00000382203.1 + 4 878 c.669G>A c.(667-669)caG>caA p.Q223Q SMARCA2_ENST00000349721.2_Silent_p.Q223Q|SMARCA2_ENST00000357248.2_Silent_p.Q223Q|SMARCA2_ENST00000382194.1_Silent_p.Q223Q|SMARCA2_ENST00000491574.1_3'UTR P51531 SMCA2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 223 Poly-Gln. chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) agcagcaacagcagcagcagc 0.642000 4 119 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21731144 21731144 + Missense_Mutation SNP T T G rs149119138 by1000genomes TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr17:21731144T>G ENST00000584755.1 + 2 843 c.446T>G c.(445-447)cTg>cGg p.L149R UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R p.L149R(18) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCTGAGAGGTGGT 0.542000 9 386 0 0 1 0 0 WNT3A 89780 broad.mit.edu 37 1 228210456 228210456 + Missense_Mutation SNP C C T TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr1:228210456C>T ENST00000284523.1 + 2 238 c.160C>T c.(160-162)Cgc>Tgc p.R54C WNT3A_ENST00000366753.2_Missense_Mutation_p.R54C NM_033131.3 NP_149122.1 P56704 WNT3A_HUMAN wingless-type MMTV integration site family, member 3A 54 axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1) 12 Prostate(94;0.0405) CAAGCAGCTCCGCTTCTGCAG 0.652000 29 278 0 0 1 0 0 ANTXR1 84168 broad.mit.edu 37 2 69409729 69409729 + Silent SNP G G A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr2:69409729G>A ENST00000303714.4 + 16 1612 c.1290G>A c.(1288-1290)ccG>ccA p.P430P NM_032208.2 NP_115584.1 Q9H6X2 ANTR1_HUMAN anthrax toxin receptor 1 430 actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading filopodium membrane|integral to membrane|lamellipodium membrane actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 29 TCCCTGAGCCGCGAAATCTCA 0.473000 Familial Infantile Hemangioma 5 455 0 0 1 0 0 CCDC28A 25901 broad.mit.edu 37 6 139095001 139095001 + Missense_Mutation SNP C C T TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr6:139095001C>T ENST00000332797.6 + 1 345 c.190C>T c.(190-192)Cgg>Tgg p.R64W NM_015439.2 NP_056254.1 Q8IWP9 CC28A_HUMAN coiled-coil domain containing 28A 64 autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1) 13 OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306) CGGGTCTTTGCGGGTTGCGGA 0.617000 6 920 0 0 1 0 0 MKL1 57591 broad.mit.edu 37 22 40807886 40807886 + Missense_Mutation SNP C C T TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr22:40807886C>T ENST00000396617.3 - 15 2904 c.2314G>A c.(2314-2316)Gcc>Acc p.A772T MKL1_ENST00000355630.3_Silent_p.P768P|MKL1_ENST00000407029.1_Silent_p.P768P|MKL1_ENST00000402042.1_Silent_p.P718P Q969V6 MKL1_HUMAN megakaryoblastic leukemia (translocation) 1 770 Pro-rich. positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent cytoplasm|nucleus actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 30 GCAGGGATGGCGGCTCCTTGA 0.532000 T RBM15 acute megakaryocytic leukemia 7 986 0 0 1 0 0 PLIN4 729359 broad.mit.edu 37 19 4511859 4511859 + Missense_Mutation SNP T T C TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr19:4511859T>C ENST00000301286.3 - 3 2070 c.2071A>G c.(2071-2073)Atg>Gtg p.M691V NM_001080400.1 NP_001073869.1 Q96Q06 PLIN4_HUMAN perilipin 4 691 27 X 33 AA approximate tandem repeat. lipid particle|plasma membrane NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2) 41 ACTGCCCCCATGAGCCCAGTA 0.592000 10 2052 0 0 1 0 0 SH3PXD2A 9644 broad.mit.edu 37 10 105362124 105362124 + Missense_Mutation SNP A A G TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr10:105362124A>G ENST00000369774.4 - 15 3127 c.2851T>C c.(2851-2853)Tcc>Ccc p.S951P SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.S818P|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.S786P|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.S923P Q5TCZ1 SPD2A_HUMAN SH3 and PX domains 2A 951 cell communication|superoxide metabolic process cell junction|cell projection|cytoplasm|podosome phosphatidylinositol binding|protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1) 38 Colorectal(252;0.0815)|Breast(234;0.131) Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119) GGAGGTTTGGAGGGGATGGGG 0.622000 5 481 0 0 1 0 0 MGAT3 4248 broad.mit.edu 37 22 39884386 39884386 + Missense_Mutation SNP G G A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr22:39884386G>A ENST00000341184.6 + 2 1249 c.1034G>A c.(1033-1035)cGc>cAc p.R345H NM_001098270.1|NM_002409.4 NP_001091740.1|NP_002400.3 Q09327 MGAT3_HUMAN mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase 345 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1) 24 Melanoma(58;0.04) TTCCACATGCGCAAGTCGCTC 0.622000 6 814 0 0 1 0 0 THAP11 57215 broad.mit.edu 37 16 67876808 67876808 + Silent SNP G G A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr16:67876808G>A ENST00000303596.1 + 1 596 c.351G>A c.(349-351)caG>caA p.Q117Q CENPT_ENST00000562787.1_Intron NM_020457.2 NP_065190.2 Q96EK4 THA11_HUMAN THAP domain containing 11 117 Gln-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|identical protein binding|metal ion binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1) 8 Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118) agcagcaacagcagcagcagc 0.667000 5 489 0 0 1 0 0 TRPM6 140803 broad.mit.edu 37 9 77354692 77354692 + Missense_Mutation SNP G G A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr9:77354692G>A ENST00000451710.3 - 33 5683 c.5446C>T c.(5446-5448)Cgg>Tgg p.R1816W TRPM6_ENST00000360774.1_Missense_Mutation_p.R1812W|TRPM6_ENST00000376871.3_Missense_Mutation_p.R649W|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1807W|TRPM6_ENST00000361255.3_Missense_Mutation_p.R1807W|TRPM6_ENST00000376872.3_Missense_Mutation_p.R767W|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1816W Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 1812 Alpha-type protein kinase. response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 TGCCATGTCCGCACAACCTCA 0.488000 6 725 0 0 1 0 0 FAM155A 728215 broad.mit.edu 37 13 108518661 108518661 + Missense_Mutation SNP T T C TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr13:108518661T>C ENST00000375915.2 - 1 422 c.284A>G c.(283-285)cAg>cGg p.Q95R NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 95 Poly-Gln. integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 ctgccgccgctgctgctgctg 0.731000 4 126 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414346 20414346 + Silent SNP G G A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr9:20414346G>A ENST00000380338.4 - 5 784 c.498C>T c.(496-498)agC>agT p.S166S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 166 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S166S(4) 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) tgctgctactgctgctgctgc 0.527000 T MLL ALL 9 264 0 0 1 0 0 ZNF761 388561 broad.mit.edu 37 19 53958820 53958820 + RNA SNP T T C TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr19:53958820T>C ENST00000454407.1 + 0 1512 Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) GAGAGAAACCTTACAAGTGTA 0.408000 8 614 0 0 1 0 0 SOGA3 387104 broad.mit.edu 37 6 127796643 127796643 + Missense_Mutation SNP G G A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr6:127796643G>A ENST00000556132.1 - 6 3392 c.2528C>T c.(2527-2529)gCg>gTg p.A843V SOGA3_ENST00000368268.2_Missense_Mutation_p.A843V|SOGA3_ENST00000525778.1_Missense_Mutation_p.A843V|SOGA3_ENST00000465909.2_Missense_Mutation_p.A843V|SOGA3_ENST00000474293.2_5'UTR|SOGA3_ENST00000481848.2_Missense_Mutation_p.A843V NM_001012279.2 NP_001012279.1 Q5TF21 CF174_HUMAN SOGA family member 3 843 integral to membrane p.A843V(1) GTAGATGCGCGCCTCGGTGAT 0.652000 35 773 0 0 1 0 0 ZNF878 729747 broad.mit.edu 37 19 12155757 12155757 + Missense_Mutation SNP C C A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr19:12155757C>A ENST00000602107.1 - 5 599 c.600G>T c.(598-600)agG>agT p.R200S CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.R153S|CTD-2006C1.2_ENST00000476474.1_RNA C9JN71 ZN878_HUMAN zinc finger protein 878 153 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 AACTGGGAAACCTGAATGCTT 0.423000 6 618 5.18039e-06 5.46686e-06 1 1 0 GRIN2B 2904 broad.mit.edu 37 12 13717461 13717461 + Missense_Mutation SNP G G A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr12:13717461G>A ENST00000279593.3 - 13 2920 c.2711C>T c.(2710-2712)aCg>aTg p.T904M NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 904 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GTTCTTGGCCGTGCGCAGCAG 0.582000 8 931 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161578 90161578 + RNA SNP G G A rs13337896 by1000genomes TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr16:90161578G>A ENST00000564451.1 + 0 931 TUBB8P7_ENST00000567960.1_RNA p.R105H(3) GCCAAGGGACGCTACACCGAA 0.587000 14 178 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37028425 37028425 + Missense_Mutation SNP A A G rs145580328 byFrequency TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chrX:37028425A>G ENST00000358047.3 + 1 1994 c.1942A>G c.(1942-1944)Aat>Gat p.N648D NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 648 p.N648D(7) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 GGAGCCTCCCAATACTGGAGT 0.642000 10 685 0 0 1 0 0 LILRB4 0 broad.mit.edu 37 19 55179342 55179342 + Missense_Mutation SNP C C T TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr19:55179342C>T ENST00000391736.1 + 14 1534 c.1219C>T c.(1219-1221)Ccc>Tcc p.P407S LILRB4_ENST00000391734.3_Missense_Mutation_p.P354S|LILRB4_ENST00000430952.2_Missense_Mutation_p.P406S|LILRB4_ENST00000391733.3_Missense_Mutation_p.P408S|LILRB4_ENST00000270452.2_Missense_Mutation_p.P407S NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2 NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 407 integral to membrane|plasma membrane antigen binding|receptor activity p.P407S(1) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) ATCTGAAGCCCCCCAGGATGT 0.647000 6 486 0 0 1 0 0 LAMB3 3914 broad.mit.edu 37 1 209800758 209800758 + Silent SNP C C T TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr1:209800758C>T ENST00000391911.1 - 11 1844 c.1455G>A c.(1453-1455)ccG>ccA p.P485P LAMB3_ENST00000367030.3_Silent_p.P485P|LAMB3_ENST00000356082.4_Silent_p.P485P NM_001017402.1 NP_001017402.1 Q13751 LAMB3_HUMAN laminin, beta 3 485 Laminin EGF-like 5. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 OV - Ovarian serous cystadenocarcinoma(81;0.0519) GGGAGTTGTGCGGGTCGCAGG 0.647000 OREG0014217 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 248 0 0 1 0 0 DACH2 117154 broad.mit.edu 37 X 85969723 85969723 + Splice_Site SNP G G T TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chrX:85969723G>T ENST00000373131.1 + 5 1228 c.1065_splice c.e5+1 p.K355_splice DACH2_ENST00000510272.1_Splice_Site_p.K149_splice|DACH2_ENST00000373125.4_Splice_Site_p.K368_splice|DACH2_ENST00000508860.1_Splice_Site_p.K201_splice NM_001139514.1 NP_001132986.1 Q96NX9 DACH2_HUMAN dachshund homolog 2 (Drosophila) 368 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 71 CTGTTATAAAGGTAAGAATCG 0.393000 33 357 1.62565e-12 1.73959e-12 1 1 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661478 22661478 + RNA SNP T T G TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr22:22661478T>G ENST00000426066.1 + 0 368 NR_027293.1 CAGATGCGTCTGAAGAAACAT 0.488000 8 257 0 0 1 0 0 ATP12A 479 broad.mit.edu 37 13 25262530 25262530 + Missense_Mutation SNP C C A rs146927457 TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr13:25262530C>A ENST00000218548.6 + 4 635 c.302C>A c.(301-303)aCg>aAg p.T101K ATP12A_ENST00000381946.3_Missense_Mutation_p.T101K NM_001185085.1|NM_001676.5 NP_001172014.1|NP_001667.4 P54707 AT12A_HUMAN ATPase, H+/K+ transporting, nongastric, alpha polypeptide 101 ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5) 74 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) CCCAAGCAGACGCCTGAGATC 0.587000 122 1579 3.28156e-27 3.5615e-27 1 1 0 RP11-535M15.2 0 broad.mit.edu 37 9 99489369 99489369 + RNA SNP C C A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr9:99489369C>A ENST00000602289.1 + 0 358 TAGCAGCAACCCTTTTGACAA 0.483000 5 89 0.000602214 0.000618417 1 1 0 TUBB8P7 0 broad.mit.edu 37 16 90162462 90162462 + RNA SNP A A G TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr16:90162462A>G ENST00000564451.1 + 0 1815 TUBB8P7_ENST00000567960.1_RNA p.T398T(1) ACTGGTACACAGGCGAGGGCA 0.522000 9 474 0 0 1 0 0 ZNF761 388561 broad.mit.edu 37 19 53958826 53958826 + RNA SNP G G A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr19:53958826G>A ENST00000454407.1 + 0 1518 Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) AACCTTACAAGTGTAATGAGT 0.418000 9 637 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276229 186276229 + Missense_Mutation SNP A A G TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr1:186276229A>G ENST00000445192.2 + 7 1423 c.1378A>G c.(1378-1380)Aca>Gca p.T460A PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.T419A|PRG4_ENST00000367486.3_Missense_Mutation_p.T417A|PRG4_ENST00000367485.4_Missense_Mutation_p.T367A NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 460 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity p.T460A(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CAAGGAGCCTACACCCACCAC 0.657000 10 553 0 0 1 0 0 QDPR 5860 broad.mit.edu 37 4 17488811 17488811 + Missense_Mutation SNP G G A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr4:17488811G>A ENST00000508623.1 - 5 517 c.485C>T c.(484-486)gCc>gTc p.A162V QDPR_ENST00000428702.2_Silent_p.S195S|QDPR_ENST00000513615.1_3'UTR|QDPR_ENST00000281243.5_Silent_p.S226S P09417 DHPR_HUMAN quinoid dihydropteridine reductase 0 dihydrobiopterin metabolic process|L-phenylalanine catabolic process|tetrahydrobiopterin biosynthetic process cytosol 6,7-dihydropteridine reductase activity|binding|electron carrier activity autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 13 NADH(DB00157) CCTGGATTAGGCTTCCTGAGC 0.453000 27 361 0 0 1 0 0 CD163 9332 broad.mit.edu 37 12 7635290 7635290 + Missense_Mutation SNP C C A rs139478533 byFrequency TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr12:7635290C>A ENST00000359156.4 - 14 3398 c.3196G>T c.(3196-3198)Gtc>Ttc p.V1066F CD163_ENST00000432237.2_Missense_Mutation_p.V1066F|CD163_ENST00000396620.3_Missense_Mutation_p.V1099F|CD163_ENST00000541972.1_Missense_Mutation_p.V1054F NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 1066 acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity p.V1066I(1) breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 AATAATGCGACGAAAATGGCC 0.423000 43 482 3.43241e-23 3.69025e-23 1 1 0 DCST1 149095 broad.mit.edu 37 1 155014235 155014235 + Missense_Mutation SNP G G A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr1:155014235G>A ENST00000295542.1 + 8 890 c.794G>A c.(793-795)cGc>cAc p.R265H DCST1_ENST00000423025.2_Missense_Mutation_p.R240H|DCST1_ENST00000368419.2_Missense_Mutation_p.R265H|DCST1_ENST00000392480.1_Missense_Mutation_p.R265H NM_152494.3 NP_689707.2 Q5T197 DCST1_HUMAN DC-STAMP domain containing 1 265 integral to membrane zinc ion binding breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 27 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) TGGTTTGACCGCAAGCATGAA 0.537000 7 580 0 0 1 0 0 R3HDM4 91300 broad.mit.edu 37 19 902036 902036 + Missense_Mutation SNP G G A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr19:902036G>A ENST00000361574.5 - 2 239 c.166C>T c.(166-168)Cgg>Tgg p.R56W R3HDM4_ENST00000587975.1_Missense_Mutation_p.R35W NM_138774.3 NP_620129.2 Q96D70 CS022_HUMAN R3H domain containing 4 56 nucleus nucleic acid binding TCTGAGTTCCGCACTGCCTGG 0.667000 6 631 0 0 1 0 0 NCOA5 57727 broad.mit.edu 37 20 44699006 44699006 + Missense_Mutation SNP G G A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr20:44699006G>A ENST00000290231.6 - 3 372 c.208C>T c.(208-210)Cgg>Tgg p.R70W NM_020967.2 NP_066018.1 Q9HCD5 NCOA5_HUMAN nuclear receptor coactivator 5 70 Arg/Asp-rich (mixed charge).|Transcription repression. regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation nucleus aminoacyl-tRNA ligase activity|ATP binding p.R70W(1) central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1) 21 Myeloproliferative disorder(115;0.0122) CTGTGATCCCGCAAATCTCTA 0.562000 8 768 0 0 1 0 0 TAS2R50 259296 broad.mit.edu 37 12 11138881 11138881 + Missense_Mutation SNP T T C TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr12:11138881T>C ENST00000506868.1 - 1 630 c.579A>G c.(577-579)atA>atG p.I193M PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron NM_176890.2 NP_795371.2 P59544 T2R50_HUMAN taste receptor, type 2, member 50 193 sensory perception of taste integral to membrane G-protein coupled receptor activity haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1) 17 TCAGAAAAGATATCAGGGACA 0.408000 30 456 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78212618 78212618 + RNA SNP A A G TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr15:78212618A>G ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA TGTAACCGCCACTGGAGGACC 0.562000 5 169 0 0 1 0 0 PSD 5662 broad.mit.edu 37 10 104164422 104164422 + Missense_Mutation SNP G G A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr10:104164422G>A ENST00000020673.5 - 15 3144 c.2618C>T c.(2617-2619)gCg>gTg p.A873V PSD_ENST00000406432.1_Missense_Mutation_p.A873V NM_001270966.1|NM_002779.3 NP_001257895.1|NP_002770.3 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 873 regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) GAAGGGGGGCGCAGAGAACAT 0.622000 7 1154 0 0 1 0 0 SEC16A 9919 broad.mit.edu 37 9 139360502 139360502 + Silent SNP G G A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr9:139360502G>A ENST00000313050.7 - 6 4288 c.4215C>T c.(4213-4215)taC>taT p.Y1405Y SEC16A_ENST00000431893.2_Silent_p.Y1227Y|SEC16A_ENST00000371706.3_Silent_p.Y1227Y|SEC16A_ENST00000290037.6_Silent_p.Y1227Y NM_014866.1 NP_055681.1 O15027 SC16A_HUMAN SEC16 homolog A (S. cerevisiae) 1227 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) GGTAGGTGCCGTAGGCAAAAT 0.577000 5 557 0 0 1 0 0 KCTD18 130535 broad.mit.edu 37 2 201354855 201354855 + Missense_Mutation SNP G G A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr2:201354855G>A ENST00000359878.3 - 7 1759 c.1249C>T c.(1249-1251)Cgg>Tgg p.R417W KCTD18_ENST00000409157.1_Missense_Mutation_p.R417W NM_152387.2 NP_689600.2 Q6PI47 KCD18_HUMAN potassium channel tetramerization domain containing 18 417 voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 TTCTCAGTCCGCACTCCCAAG 0.592000 4 215 0 0 1 0 0 IGSF3 3321 broad.mit.edu 37 1 117158748 117158748 + Silent SNP A A G TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr1:117158748A>G ENST00000369486.3 - 3 1140 c.375T>C c.(373-375)acT>acC p.T125T IGSF3_ENST00000318837.6_Silent_p.T125T|IGSF3_ENST00000369483.1_Silent_p.T125T NM_001007237.1 NP_001007238.1 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 125 Ig-like C2-type 1. integral to membrane p.T125T(2) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 62 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166) ATTGCTTATCAGTGCTGGGTG 0.498000 6 303 0 0 1 0 0 TTC9 23508 broad.mit.edu 37 14 71134284 71134284 + Missense_Mutation SNP G G T TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr14:71134284G>T ENST00000256367.2 + 2 753 c.410G>T c.(409-411)tGc>tTc p.C137F NM_015351.1 NP_056166.1 Q92623 TTC9A_HUMAN tetratricopeptide repeat domain 9 137 binding skin(1) 1 all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538) TCCATAGCCTGCCTGCTCCAG 0.512000 11 193 0.000978159 0.000999993 1 1 0 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 12 519 0 0 1 0 0 FAM181A 90050 broad.mit.edu 37 14 94394668 94394668 + Missense_Mutation SNP T T G TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr14:94394668T>G ENST00000267594.5 + 3 530 c.223T>G c.(223-225)Ttc>Gtc p.F75V FAM181A_ENST00000556222.1_Missense_Mutation_p.F13V|FAM181A_ENST00000557000.2_Missense_Mutation_p.F13V|FAM181A_ENST00000557719.1_Missense_Mutation_p.F13V NM_001207073.1|NM_001207074.1|NM_138344.4 NP_001194002.1|NP_001194003.1|NP_612353.3 Q8N9Y4 F181A_HUMAN family with sequence similarity 181, member A 75 cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2) 18 GCTGCTGAACTTCGTGAACCT 0.607000 16 329 0 0 1 0 0 PKN1 5585 broad.mit.edu 37 19 14581660 14581660 + Silent SNP C C T TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr19:14581660C>T ENST00000242783.6 + 21 2787 c.2622C>T c.(2620-2622)ttC>ttT p.F874F PKN1_ENST00000342216.4_Silent_p.F880F NM_002741.3 NP_002732.3 Q16512 PKN1_HUMAN protein kinase N1 874 Protein kinase. 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 AGCCCTTCTTCAGGGTGAGAT 0.607000 26 344 0 0 1 0 0 SYTL2 54843 broad.mit.edu 37 11 85468696 85468696 + Silent SNP G G A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr11:85468696G>A ENST00000316356.4 - 2 637 c.73C>T c.(73-75)Ctg>Ttg p.L25L SYTL2_ENST00000528231.1_Silent_p.L25L|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000524452.1_Silent_p.L25L|SYTL2_ENST00000389960.4_Silent_p.L25L Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 25 RabBD. intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) GCCCTCTTCAGAGCAGCATCC 0.478000 114 1322 0 0 1 0 0 MAS1L 116511 broad.mit.edu 37 6 29454889 29454889 + Missense_Mutation SNP G G A rs145448286 byFrequency TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr6:29454889G>A ENST00000377127.3 - 1 849 c.791C>T c.(790-792)gCg>gTg p.A264V NM_052967.1 NP_443199.1 P35410 MAS1L_HUMAN MAS1 oncogene-like 264 cytoplasm|integral to membrane|nucleus|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2) 28 CTGCACCACCGCATAGACCCT 0.522000 4 216 0 0 1 0 0 DUSP6 1848 broad.mit.edu 37 12 89745479 89745479 + Nonsense_Mutation SNP G G T TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr12:89745479G>T ENST00000279488.7 - 1 1569 c.338C>A c.(337-339)tCg>tAg p.S113* DUSP6_ENST00000308385.6_Nonsense_Mutation_p.S113* NM_001946.2 NP_001937.2 Q16828 DUS6_HUMAN dual specificity phosphatase 6 113 Rhodanese. dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity large_intestine(5)|lung(8)|skin(2)|urinary_tract(1) 16 CCCGAGCACCGACTCGCCGCC 0.682000 4 76 0.00909568 0.00921642 1 1 0 TGOLN2 10618 broad.mit.edu 37 2 85554367 85554367 + Missense_Mutation SNP T T C TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr2:85554367T>C ENST00000377386.3 - 2 950 c.488A>G c.(487-489)gAc>gGc p.D163G TGOLN2_ENST00000409015.1_Missense_Mutation_p.D163G|TGOLN2_ENST00000398263.2_Missense_Mutation_p.D163G|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000409232.3_Missense_Mutation_p.D163G|TGOLN2_ENST00000444342.2_Missense_Mutation_p.D163G O43493 TGON2_HUMAN trans-golgi network protein 2 163 14 X 14 AA tandem repeats. integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle protein binding GCTAGGGCTGTCTTTTTGGGT 0.592000 13 2396 0 0 1 0 0 ZNF347 84671 broad.mit.edu 37 19 53644386 53644386 + Silent SNP T T A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr19:53644386T>A ENST00000452676.2 - 5 2124 c.1698A>T c.(1696-1698)ggA>ggT p.G566G ZNF347_ENST00000601469.2_Silent_p.G566G|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Silent_p.G565G NM_001172674.1 NP_001166145.1 Q96SE7 ZN347_HUMAN zinc finger protein 347 565 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) AAGGTTTTTCTCCAGTATGGA 0.408000 8 742 0 0 1 0 0 LILRB2 0 broad.mit.edu 37 19 54782813 54782813 + Missense_Mutation SNP C C T rs141001610 byFrequency TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr19:54782813C>T ENST00000391748.1 - 6 936 c.809G>A c.(808-810)cGg>cAg p.R270Q LILRB2_ENST00000391746.1_Missense_Mutation_p.R270Q|LILRB2_ENST00000434421.1_Missense_Mutation_p.R154Q|LILRB2_ENST00000314446.5_Missense_Mutation_p.R270Q|LILRB2_ENST00000391749.4_Missense_Mutation_p.R270Q NM_001278403.1 NP_001265332.1 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 270 Ig-like C2-type 3. cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 44 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CTGGGGCTGCCGGCCAGGGAG 0.627000 7 424 0 0 1 0 0 HEXIM1 10614 broad.mit.edu 37 17 43227456 43227456 + Missense_Mutation SNP G G A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr17:43227456G>A ENST00000332499.2 + 1 2773 c.899G>A c.(898-900)cGc>cAc p.R300H NM_006460.2 NP_006451.1 O94992 HEXI1_HUMAN hexamethylene bis-acetamide inducible 1 300 Mediates interaction with CCNT1. negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 TGCCTCTCGCGCATGGAGGAC 0.642000 6 570 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78211548 78211548 + RNA SNP T T C TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr15:78211548T>C ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CCACCTGGGATTGGAGCTTTC 0.562000 7 766 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152325465 152325465 + Silent SNP G G A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr1:152325465G>A ENST00000388718.5 - 3 4869 c.4797C>T c.(4795-4797)taC>taT p.Y1599Y FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1599 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CGGCTTGGCCGTAAGTGTGTT 0.512000 7 1258 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38120006 38120006 + Silent SNP T T C TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr22:38120006T>C ENST00000406386.3 + 7 1698 c.1443T>C c.(1441-1443)tgT>tgC p.C481C RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 481 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding p.C481C(3) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) GAACATCCTGTGCCCAGCGGG 0.592000 6 445 0 0 1 0 0 KRT80 144501 broad.mit.edu 37 12 52566851 52566851 + Missense_Mutation SNP G G A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr12:52566851G>A ENST00000313234.5 - 6 1025 c.928C>T c.(928-930)Cgg>Tgg p.R310W KRT80_ENST00000394815.2_Missense_Mutation_p.R310W NM_001081492.1 NP_001074961.1 Q6KB66 K2C80_HUMAN keratin 80 310 Coil 2.|Rod. keratin filament structural molecule activity endometrium(2)|large_intestine(2)|lung(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.108) ATCTGGGACCGCAGCTTCTGG 0.637000 6 325 0 0 1 0 0 SAMSN1 64092 broad.mit.edu 37 21 15882757 15882757 + Silent SNP A A G TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr21:15882757A>G ENST00000285670.2 - 6 813 c.639T>C c.(637-639)ggT>ggC p.G213G SAMSN1_ENST00000400564.1_Intron|SAMSN1_ENST00000400566.1_Silent_p.G145G NM_001256370.1 NP_001243299.1 Q9NSI8 SAMN1_HUMAN SAM domain, SH3 domain and nuclear localization signals 1 145 SH3. negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation cytoplasm|nucleus|ruffle phosphotyrosine binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 24 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164) GGTTACTTGTACCATCTGAAC 0.473000 29 315 0 0 1 0 0 CEP170B 283638 broad.mit.edu 37 14 105353866 105353866 + Missense_Mutation SNP G G A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr14:105353866G>A ENST00000453495.1 + 12 3521 c.3293G>A c.(3292-3294)cGt>cAt p.R1098H CEP170B_ENST00000556508.1_Missense_Mutation_p.R1027H|CEP170B_ENST00000414716.3_Missense_Mutation_p.R1097H|CEP170B_ENST00000418279.1_Missense_Mutation_p.R1027H centrosomal protein 170B GAGCAGAGCCGTAGCTCAGCC 0.726000 4 150 0 0 1 0 0 SLC22A20 0 broad.mit.edu 37 11 65004295 65004295 + RNA SNP G G A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr11:65004295G>A ENST00000525437.1 + 0 1545 A6NK97 S22AK_HUMAN ion transport integral to membrane transmembrane transporter activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2) 8 TGGGCTGGCCGTCTGCGTCCT 0.657000 6 548 0 0 1 0 0 AGAP8 728404 broad.mit.edu 37 10 51225503 51225503 + Silent SNP C C G TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr10:51225503C>G ENST00000602930.1 - 9 1980 c.1431G>C c.(1429-1431)gtG>gtC p.V477V AGAP8_ENST00000425119.2_Silent_p.V493V NM_001276343.1 NP_001263272.1 Q5SRD3 AGAP8_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 8 493 Arf-GAP. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding breast(1)|endometrium(1)|lung(2)|ovary(2) 6 CCAGAGATCGCACACGGGAAA 0.532000 5 823 0 0 1 0 0 TGOLN2 10618 broad.mit.edu 37 2 85554362 85554362 + Missense_Mutation SNP G G T TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr2:85554362G>T ENST00000377386.3 - 2 955 c.493C>A c.(493-495)Cct>Act p.P165T TGOLN2_ENST00000409015.1_Missense_Mutation_p.P165T|TGOLN2_ENST00000398263.2_Missense_Mutation_p.P165T|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000409232.3_Missense_Mutation_p.P165T|TGOLN2_ENST00000444342.2_Missense_Mutation_p.P165T O43493 TGON2_HUMAN trans-golgi network protein 2 165 14 X 14 AA tandem repeats. integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle protein binding GACTTGCTAGGGCTGTCTTTT 0.597000 11 2391 1.58986e-06 1.68555e-06 1 1 0 DCAF4L2 138009 broad.mit.edu 37 8 88885063 88885063 + Silent SNP T T C TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr8:88885063T>C ENST00000319675.3 - 1 1233 c.1137A>G c.(1135-1137)ccA>ccG p.P379P NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 379 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 TGAGCAGCCCTGGTGCTCCTC 0.562000 50 323 0 0 1 0 0 SPOCK1 6695 broad.mit.edu 37 5 136476343 136476343 + Silent SNP G G A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr5:136476343G>A ENST00000394945.1 - 4 442 c.273C>T c.(271-273)tgC>tgT p.C91C SPOCK1_ENST00000282223.7_Silent_p.C91C NM_004598.3 NP_004589.1 Q08629 TICN1_HUMAN sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 91 cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction proteinaceous extracellular matrix calcium ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TGTGAGGGCTGCATTTTACCT 0.567000 5 154 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161618 90161618 + RNA SNP C C T rs13338202 by1000genomes TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr16:90161618C>T ENST00000564451.1 + 0 971 TUBB8P7_ENST00000567960.1_RNA p.D118D(2) CAGTGATGGACGTTGTCAGAA 0.607000 14 171 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628245 29628245 + Missense_Mutation SNP G G A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr20:29628245G>A ENST00000278882.3 + 6 627 c.247G>A c.(247-249)Gcc>Acc p.A83T FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T p.A83T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTTTGTTGGCCTCAAATAG 0.353000 7 694 0 0 1 0 0 PTH2 113091 broad.mit.edu 37 19 49926533 49926533 + Missense_Mutation SNP G G C TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr19:49926533G>C ENST00000270631.1 - 1 165 c.64C>G c.(64-66)Ctg>Gtg p.L22V NM_178449.3 NP_848544.1 Q96A98 TIP39_HUMAN parathyroid hormone 2 22 neuropeptide signaling pathway extracellular region p.L22V(2) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836) GGCACCACcagcagcagcagc 0.692000 4 135 0 0 1 0 0 KIAA1211 57482 broad.mit.edu 37 4 57180336 57180336 + Missense_Mutation SNP G G A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr4:57180336G>A ENST00000504228.1 + 6 773 c.668G>A c.(667-669)cGc>cAc p.R223H KIAA1211_ENST00000541073.1_Missense_Mutation_p.R216H|KIAA1211_ENST00000264229.6_Missense_Mutation_p.R223H Q6ZU35 K1211_HUMAN KIAA1211 223 Glu-rich. endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) GAGAGAAGACGCCAAGAAGAC 0.612000 6 97 0 0 1 0 0 GPR84 0 broad.mit.edu 37 12 54756512 54756512 + Missense_Mutation SNP C C T TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr12:54756512C>T ENST00000551809.1 - 1 1759 c.1124G>A c.(1123-1125)cGc>cAc p.R375H GPR84_ENST00000267015.3_Missense_Mutation_p.R375H|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA Q9NQS5 GPR84_HUMAN G protein-coupled receptor 84 375 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1) 18 GCGGAATTGGCGGTTCATGGC 0.542000 7 1316 0 0 1 0 0 STAT3 6774 broad.mit.edu 37 17 40498723 40498723 + Missense_Mutation SNP G G A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr17:40498723G>A ENST00000264657.5 - 3 449 c.137C>T c.(136-138)gCg>gTg p.A46V STAT3_ENST00000389272.3_5'UTR|STAT3_ENST00000585517.1_Missense_Mutation_p.A46V|STAT3_ENST00000404395.3_Missense_Mutation_p.A46V|STAT3_ENST00000588969.1_Missense_Mutation_p.A46V NM_003150.3|NM_139276.2 NP_003141.2|NP_644805.1 P40763 STAT3_HUMAN signal transducer and activator of transcription 3 (acute-phase response factor) 46 cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis cytosol|nucleus|plasma membrane calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding p.A46V(2) breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135) BRCA - Breast invasive adenocarcinoma(366;0.139) TTTGCTGGCCGCATATGCCCT 0.433000 Hyperimmunoglobulin E Recurrent Infection Syndrome 8 822 0 0 1 0 0 ANKRD30BP2 0 broad.mit.edu 37 21 14414855 14414855 + RNA SNP A A G rs141732548 by1000genomes TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr21:14414855A>G ENST00000507941.1 + 0 95 GCCAATGGCCATGCAGAAGTA 0.448000 18 189 0 0 1 0 0 KRTAP5-1 387264 broad.mit.edu 37 11 1606326 1606326 + Missense_Mutation SNP C C T TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr11:1606326C>T ENST00000382171.2 - 1 187 c.154G>A c.(154-156)Gtg>Atg p.V52M KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA NM_001005922.1 NP_001005922.1 Q6L8H4 KRA51_HUMAN keratin associated protein 5-1 52 8 X 4 AA repeats of C-C-X-P. keratin filament endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1) 16 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CGGCAGCACACGGGCTTGCAG 0.682000 8 1103 0 0 1 0 0 KRTAP10-5 386680 broad.mit.edu 37 21 45999841 45999841 + Silent SNP A A G TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr21:45999841A>G ENST00000400372.1 - 1 640 c.615T>C c.(613-615)tgT>tgC p.C205C TSPEAR_ENST00000323084.4_Intron NM_198694.2 NP_941967.2 P60370 KR105_HUMAN keratin associated protein 10-5 205 22 X 5 AA repeats of C-C-X(3). keratin filament p.C205C(2) endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 14 AAGCCGGCTGACAGCTAGACT 0.632000 8 1228 0 0 1 0 0 CLCN1 1180 broad.mit.edu 37 7 143029823 143029823 + Missense_Mutation SNP C C T TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr7:143029823C>T ENST00000343257.2 + 12 1345 c.1258C>T c.(1258-1260)Ccc>Tcc p.P420S NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 420 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) CCAGTTGATGCCCCGCGAAGC 0.522000 6 954 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414379 20414379 + Silent SNP G G A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr9:20414379G>A ENST00000380338.4 - 5 751 c.465C>T c.(463-465)agC>agT p.S155S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 155 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S155S(4) 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) tgctgctactgctgctgctgc 0.532000 T MLL ALL 7 207 0 0 1 0 0 TET3 200424 broad.mit.edu 37 2 74317154 74317154 + Missense_Mutation SNP G G A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr2:74317154G>A ENST00000409262.3 + 5 2614 c.2614G>A c.(2614-2616)Gca>Aca p.A872T NM_144993.1 NP_659430.1 O43151 TET3_HUMAN tet methylcytosine dioxygenase 3 872 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GTTCCGCCTCGCAGGGGACAA 0.592000 51 591 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162338 90162338 + RNA SNP T T C TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr16:90162338T>C ENST00000564451.1 + 0 1691 TUBB8P7_ENST00000567960.1_RNA GACATCCCACTCCGGGGGCTA 0.483000 8 655 0 0 1 0 0 DBH 1621 broad.mit.edu 37 9 136508639 136508639 + Silent SNP C C T rs78200745 TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr9:136508639C>T ENST00000393056.2 + 4 861 c.849C>T c.(847-849)tgC>tgT p.C283C NM_000787.3 NP_000778.3 P09172 DOPO_HUMAN dopamine beta-hydroxylase (dopamine beta-monooxygenase) 283 hormone biosynthetic process chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane dopamine beta-monooxygenase activity|L-ascorbic acid binding central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 36 OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05) Dopamine(DB00988)|Vitamin C(DB00126) GCGGGCCCTGCGACTCCAAGA 0.662000 5 479 0 0 1 0 0 OR5F1 338674 broad.mit.edu 37 11 55761879 55761879 + Missense_Mutation SNP T T G TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr11:55761879T>G ENST00000278409.1 - 1 222 c.223A>C c.(223-225)Act>Cct p.T75P NM_003697.1 NP_003688.1 O95221 OR5F1_HUMAN olfactory receptor, family 5, subfamily F, member 1 75 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 58 Esophageal squamous(21;0.00448) GTGATGGTAGTTGAGTTACAA 0.443000 34 294 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45126612 45126612 + RNA SNP A A G TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr17:45126612A>G ENST00000575173.1 - 0 418 ATTCATGAAGACGTTACAAGC 0.483000 8 321 0 0 1 0 0 CAPN11 11131 broad.mit.edu 37 6 44144381 44144381 + Silent SNP C C T TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr6:44144381C>T ENST00000542245.1 + 10 1103 c.1065C>T c.(1063-1065)gaC>gaT p.D355D CAPN11_ENST00000398776.1_Silent_p.D355D Q9UMQ6 CAN11_HUMAN calpain 11 355 Calpain catalytic. proteolysis acrosomal vesicle calcium ion binding|calcium-dependent cysteine-type endopeptidase activity breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1) 36 all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) AGACGGAGGACGGGGAGTTCT 0.627000 28 319 0 0 1 0 0 GLI2 2736 broad.mit.edu 37 2 121736059 121736059 + Missense_Mutation SNP G G A rs150170739 TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr2:121736059G>A ENST00000452319.1 + 10 1478 c.1418G>A c.(1417-1419)cGc>cAc p.R473H GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.R473H|GLI2_ENST00000314490.11_Missense_Mutation_p.R145H P10070 GLI2_HUMAN GLI family zinc finger 2 473 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) TTTGTGTGCCGCTGGCAGGCC 0.632000 8 855 0 0 1 0 0 DDX41 51428 broad.mit.edu 37 5 176941738 176941738 + Missense_Mutation SNP C C T TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr5:176941738C>T ENST00000507955.1 - 9 1422 c.899G>A c.(898-900)gGc>gAc p.G300D NM_016222.2 NP_057306.2 Q9UJV9 DDX41_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 300 Helicase ATP-binding. apoptosis|multicellular organismal development catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191) CACGGACATGCCCCCAATGCA 0.637000 7 899 0 0 1 0 0 STXBP5L 9515 broad.mit.edu 37 3 121097633 121097633 + Silent SNP C C T TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr3:121097633C>T ENST00000273666.6 + 22 2590 c.2319C>T c.(2317-2319)gcC>gcT p.A773A STXBP5L_ENST00000472879.1_Silent_p.A749A|STXBP5L_ENST00000492541.1_Silent_p.A773A|STXBP5L_ENST00000471454.1_Silent_p.A749A|STXBP5L_ENST00000497029.1_Intron NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 773 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) TTTCTAGTGCCGATGTTTCAA 0.473000 8 176 0 0 1 0 0 CHERP 10523 broad.mit.edu 37 19 16652806 16652806 + Missense_Mutation SNP C C T TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr19:16652806C>T ENST00000546361.2 - 2 225 c.74G>A c.(73-75)cGc>cAc p.R25H CHERP_ENST00000198939.6_Missense_Mutation_p.R25H|CTD-3222D19.2_ENST00000409035.1_Intron NM_006387.5 NP_006378.3 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum protein 25 cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3) 24 GGGCCCATTGCGAGCCACGAA 0.547000 5 330 0 0 1 0 0 NPTXR 23467 broad.mit.edu 37 22 39222607 39222607 + Silent SNP G G A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr22:39222607G>A ENST00000333039.2 - 3 1119 c.996C>T c.(994-996)acC>acT p.T332T NM_014293.3 NP_055108.2 O95502 NPTXR_HUMAN neuronal pentraxin receptor 332 Pentaxin. integral to membrane metal ion binding central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 Melanoma(58;0.04) TGCCCTGGCCGGTGCCGCTGG 0.637000 5 486 0 0 1 0 0 GLTSCR2 29997 broad.mit.edu 37 19 48248871 48248871 + Missense_Mutation SNP G G A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr19:48248871G>A ENST00000246802.5 + 1 93 c.55G>A c.(55-57)Gat>Aat p.D19N GLTSCR2_ENST00000598681.1_3'UTR NM_015710.4 NP_056525.2 Q9NZM5 GSCR2_HUMAN glioma tumor suppressor candidate region gene 2 19 nucleolus central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1) 15 all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086) all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278) AAGCGATGCCGATTCTGGTTT 0.642000 6 833 0 0 1 0 0 KCNH8 131096 broad.mit.edu 37 3 19436644 19436644 + Missense_Mutation SNP C C T TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr3:19436644C>T ENST00000328405.2 + 7 1284 c.1018C>T c.(1018-1020)Cgt>Tgt p.R340C KCNH8_ENST00000475063.1_3'UTR|KCNH8_ENST00000537696.1_5'UTR NM_144633.2 NP_653234.2 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 8 340 integral to membrane two-component sensor activity p.R340C(1) NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 77 GCGTCTTTTGCGTCTGCTGCA 0.488000 5 532 0 0 1 0 0 HERC2P3 0 broad.mit.edu 37 15 20644850 20644850 + RNA SNP G G A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr15:20644850G>A ENST00000428453.1 - 0 3097 p.A803V(4) central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 CATGTCCCTCGCCCTTTCGGT 0.463000 5 139 0 0 1 0 0 TRO 7216 broad.mit.edu 37 X 54957327 54957327 + Silent SNP G G A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chrX:54957327G>A ENST00000173898.7 + 12 4282 c.4170G>A c.(4168-4170)ccG>ccA p.P1390P TRO_ENST00000319167.8_Intron|TRO_ENST00000420798.2_Silent_p.P921P|TRO_ENST00000375041.2_Silent_p.P993P|TRO_ENST00000375022.4_Intron|TRO_ENST00000399736.1_Intron NM_001039705.1 NP_001034794.1 Q12816 TROP_HUMAN trophinin 1390 62 X 10 AA approximate tandem repeats. embryo implantation|homophilic cell adhesion integral to plasma membrane breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1) 37 GCGGTGGACCGAGCACAGGAG 0.602000 28 545 0 0 1 0 0 IGHV1OR15-9 0 broad.mit.edu 37 15 20170029 20170029 + RNA SNP C C T rs144252881 by1000genomes TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr15:20170029C>T ENST00000338912.5 - 0 242 CCTGGAACTTCTGTGCATAGC 0.547000 6 616 0 0 1 0 0 SF3B14 0 broad.mit.edu 37 2 24297040 24297040 + Missense_Mutation SNP G G A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr2:24297040G>A ENST00000233468.4 - 2 268 c.55C>T c.(55-57)Cgg>Tgg p.R19W NM_016047.3 NP_057131.1 Q9Y3B4 PM14_HUMAN 19 RRM. nuclear mRNA splicing, via spliceosome nucleoplasm|U12-type spliceosomal complex nucleotide binding|protein binding|RNA binding NS(1)|kidney(1)|large_intestine(1)|lung(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TACAATATCCGATTTACTTCA 0.294000 16 140 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114270000 114270000 + Silent SNP G G A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr7:114270000G>A ENST00000393500.3 + 11 1132 c.312G>A c.(310-312)caG>caA p.Q104Q FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q 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 5 248 0 0 1 0 0 POTEM 641455 broad.mit.edu 37 14 20010235 20010235 + Missense_Mutation SNP A A G TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr14:20010235A>G ENST00000551509.1 - 5 974 c.923T>C c.(922-924)gTt>gCt p.V308A RP11-244H18.1_ENST00000547584.1_lincRNA NM_001145442.1 NP_001138914.1 A6NI47 POTEM_HUMAN POTE ankyrin domain family, member M 308 endometrium(4)|kidney(1)|lung(4) 9 AAGTATGAGAACAGTTCTAAA 0.368000 4 175 0 0 1 0 0 NUP210 23225 broad.mit.edu 37 3 13377062 13377062 + Silent SNP G G A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr3:13377062G>A ENST00000254508.5 - 28 3817 c.3735C>T c.(3733-3735)ggC>ggT p.G1245G NM_024923.2 NP_079199.2 Q8TEM1 PO210_HUMAN nucleoporin 210kDa 1245 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) CTTTTACCCGGCCGAGCACGT 0.607000 32 294 0 0 1 0 0 TMCO6 55374 broad.mit.edu 37 5 140023774 140023774 + Missense_Mutation SNP G G A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr5:140023774G>A ENST00000394671.3 + 10 1296 c.1195G>A c.(1195-1197)Gta>Ata p.V399I NDUFA2_ENST00000510680.1_Intron|TMCO6_ENST00000252100.6_Missense_Mutation_p.V405I|TMCO6_ENST00000537378.1_Missense_Mutation_p.V159I NM_018502.3 NP_060972.3 Q96DC7 TMCO6_HUMAN transmembrane and coiled-coil domains 6 399 protein import into nucleus cytoplasm|nuclear pore binding|protein transporter activity breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1) 9 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGTGGTGAGCGTAATGGTATG 0.483000 6 821 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.413000 6 376 0 0 1 0 0 BCLAF1 9774 broad.mit.edu 37 6 136589449 136589449 + Nonsense_Mutation SNP G G A rs147719127 TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr6:136589449G>A ENST00000531224.1 - 10 2500 c.2248C>T c.(2248-2250)Cga>Tga p.R750* BCLAF1_ENST00000530767.1_Nonsense_Mutation_p.R577*|BCLAF1_ENST00000527759.1_Nonsense_Mutation_p.R748*|BCLAF1_ENST00000031135.9_5'UTR|BCLAF1_ENST00000353331.4_Nonsense_Mutation_p.R748*|BCLAF1_ENST00000527536.1_Nonsense_Mutation_p.R750*|BCLAF1_ENST00000392348.2_Nonsense_Mutation_p.R748*|BCLAF1_ENST00000529917.1_5'UTR NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 750 Poly-Ser. induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding p.R750G(1) haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) GATGAAGATCGAGAATGATCT 0.338000 9 248 0 0 1 0 0 RGPD3 653489 broad.mit.edu 37 2 107049681 107049681 + Missense_Mutation SNP T T C TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr2:107049681T>C ENST00000409886.3 - 16 2353 c.2266A>G c.(2266-2268)Aac>Gac p.N756D RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 756 intracellular transport binding p.N756D(6) breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TCACTATAGTTTTCGAGTTCC 0.373000 6 844 0 0 1 0 0 TGOLN2 10618 broad.mit.edu 37 2 85554351 85554351 + Splice_Site SNP T T C TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr2:85554351T>C ENST00000282120.2 - 3 500 c.e3-2 TGOLN2_ENST00000409015.1_Silent_p.S168S|TGOLN2_ENST00000398263.2_Silent_p.S168S|TGOLN2_ENST00000409232.3_Silent_p.S168S|TGOLN2_ENST00000444342.2_Silent_p.S168S|TGOLN2_ENST00000377386.3_Silent_p.S168S O43493 TGON2_HUMAN trans-golgi network protein 2 integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle protein binding CCTCCGAACCTGACTTGCTAG 0.602000 11 2416 0 0 1 0 0 EPHA1 2041 broad.mit.edu 37 7 143096794 143096794 + Missense_Mutation SNP C C T TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr7:143096794C>T ENST00000275815.3 - 4 871 c.785G>A c.(784-786)tGc>tAc p.C262Y NM_005232.4 NP_005223.4 P21709 EPHA1_HUMAN EPH receptor A1 262 Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3) 51 Melanoma(164;0.205) Myeloproliferative disorder(862;0.0255) CTCACAGTGGCACCGTCCTAC 0.652000 35 400 0 0 1 0 0 SHD 56961 broad.mit.edu 37 19 4283173 4283173 + Missense_Mutation SNP C C T TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr19:4283173C>T ENST00000543264.2 + 3 1989 c.526C>T c.(526-528)Cgg>Tgg p.R176W SHD_ENST00000599689.1_Missense_Mutation_p.R176W NM_020209.3 NP_064594.3 Q96IW2 SHD_HUMAN Src homology 2 domain containing transforming protein D 176 breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1) 14 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18) GGAAGATGAACGGCCAGCAGA 0.567000 21 315 0 0 1 0 0 CNDP1 84735 broad.mit.edu 37 18 72228136 72228136 + Missense_Mutation SNP G G A rs150779486 byFrequency TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr18:72228136G>A ENST00000582365.1 + 3 286 c.220G>A c.(220-222)Gaa>Aaa p.E74K CNDP1_ENST00000585136.1_Intron|CNDP1_ENST00000358821.3_Missense_Mutation_p.E117K Q96KN2 CNDP1_HUMAN carnosine dipeptidase 1 (metallopeptidase M20 family) 117 proteolysis extracellular region carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211) BRCA - Breast invasive adenocarcinoma(31;0.109) CATCCTGGCCGAACTGGGGAG 0.552000 8 823 0 0 1 0 0 AQP7 364 broad.mit.edu 37 9 33385614 33385614 + Missense_Mutation SNP A A T rs140995428 by1000genomes TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr9:33385614A>T ENST00000541274.1 - 5 830 c.381T>A c.(379-381)agT>agA p.S127R AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR O14520 AQP7_HUMAN aquaporin 7 0 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CCACAGAAAAACTCAAAGGAA 0.632000 5 351 0 0 1 0 0 DOCK10 55619 broad.mit.edu 37 2 225659771 225659771 + Missense_Mutation SNP C C T TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr2:225659771C>T ENST00000409592.3 - 45 5074 c.4961G>A c.(4960-4962)cGt>cAt p.R1654H DOCK10_ENST00000258390.7_Missense_Mutation_p.R1660H Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 1660 DHR-2. GTP binding p.R1658H(1)|p.R198H(1) NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) AGTCCTTATACGCTTAGTCAG 0.478000 47 555 0 0 1 0 0 POM121 9883 broad.mit.edu 37 7 72398976 72398976 + Missense_Mutation SNP A A G rs147859349 TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr7:72398976A>G ENST00000395270.1 + 7 1322 c.281A>G c.(280-282)aAt>aGt p.N94S POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000358357.3_Missense_Mutation_p.N94S|POM121_ENST00000434423.2_Missense_Mutation_p.N359S NM_001257190.1 NP_001244119.1 Q96HA1 P121A_HUMAN POM121 transmembrane nucleoporin 359 Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) CTGGTGGCCAATGGAGTCCCC 0.468000 9 1020 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41496170 41496170 + Silent SNP G G A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr21:41496170G>A ENST00000400454.1 - 20 4125 c.3648C>T c.(3646-3648)aaC>aaT p.N1216N NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1216 Fibronectin type-III 4. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GGATGATGCCGTTCAGCTTGA 0.572000 6 753 0 0 1 0 0 FCGR3A 2214 broad.mit.edu 37 1 161512834 161512834 + Missense_Mutation SNP A A G rs1042208 by1000genomes TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr1:161512834A>G ENST00000367969.3 - 5 1024 c.841T>C c.(841-843)Ttt>Ctt p.F281L FCGR3A_ENST00000443193.1_Missense_Mutation_p.F280L|FCGR3A_ENST00000436743.1_Missense_Mutation_p.F245L|FCGR3A_ENST00000540048.1_Missense_Mutation_p.F245L NM_000569.6 NP_000560.5 P08637 FCG3A_HUMAN Fc fragment of IgG, low affinity IIIa, receptor (CD16a) 245 immune response|regulation of immune response extracellular region|integral to membrane|plasma membrane IgG binding|receptor activity p.F281L(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 24 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) CTCCATTTAAATTTATGGTCC 0.443000 7 589 0 0 1 0 0 IGHG3 0 broad.mit.edu 37 14 106237582 106237582 + RNA SNP C C T rs2983776 TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr14:106237582C>T ENST00000390551.2 - 0 160 GTAGGACAGCCGGGAAGGTGT 0.637000 4 235 0 0 1 0 0 GIPR 2696 broad.mit.edu 37 19 46178073 46178073 + Missense_Mutation SNP C C G TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr19:46178073C>G ENST00000590918.1 + 7 721 c.622C>G c.(622-624)Ctg>Gtg p.L208V GIPR_ENST00000304207.8_Missense_Mutation_p.L172V|GIPR_ENST00000263281.3_Missense_Mutation_p.L208V NM_000164.2 NP_000155.1 P48546 GIPR_HUMAN gastric inhibitory polypeptide receptor 208 generation of precursor metabolites and energy|response to nutrient integral to membrane|plasma membrane endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 12 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199) GGCCCTTGCGCTGTGGAACCA 0.577000 4 248 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144996470 144996470 + Missense_Mutation SNP G G A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr8:144996470G>A ENST00000322810.4 - 32 8099 c.7930C>T c.(7930-7932)Cgc>Tgc p.R2644C PLEC_ENST00000398774.2_Missense_Mutation_p.R2475C|PLEC_ENST00000354958.2_Missense_Mutation_p.R2485C|PLEC_ENST00000345136.3_Missense_Mutation_p.R2507C|PLEC_ENST00000527096.1_Missense_Mutation_p.R2530C|PLEC_ENST00000354589.3_Missense_Mutation_p.R2507C|PLEC_ENST00000357649.2_Missense_Mutation_p.R2511C|PLEC_ENST00000436759.2_Missense_Mutation_p.R2534C|PLEC_ENST00000356346.3_Missense_Mutation_p.R2493C NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 2644 Central fibrous rod domain. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 TCGATGAAGCGCTCCCGCTGT 0.627000 23 190 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179430536 179430536 + Missense_Mutation SNP C C T TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr2:179430536C>T ENST00000589042.1 - 326 80547 c.80323G>A c.(80323-80325)Gtg>Atg p.V26775M TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V25134M|TTN_ENST00000460472.2_Missense_Mutation_p.V17710M|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V24207M|TTN_ENST00000342175.6_Missense_Mutation_p.V17902M|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V17835M|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 25134 Ig-like 128. 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) GCAGCTTTCACGGCATCAACA 0.448000 6 947 0 0 1 0 0 FLT4 2324 broad.mit.edu 37 5 180056983 180056983 + Missense_Mutation SNP G G T TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr5:180056983G>T ENST00000261937.6 - 5 714 c.636C>A c.(634-636)gaC>gaA p.D212E FLT4_ENST00000393347.3_Missense_Mutation_p.D212E|FLT4_ENST00000502649.1_Missense_Mutation_p.D212E|FLT4_ENST00000424276.2_5'UTR NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 212 Ig-like C2-type 2. positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) GGAAGTCCTGGTCTCCCCAGG 0.637000 5 286 1 1 1 1 0 PES1 23481 broad.mit.edu 37 22 30976129 30976129 + Missense_Mutation SNP C C G TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr22:30976129C>G ENST00000402281.1 - 13 1654 c.663G>C c.(661-663)ttG>ttC p.L221F PES1_ENST00000335214.6_Missense_Mutation_p.L355F|PES1_ENST00000354694.6_Missense_Mutation_p.L360F|PES1_ENST00000402284.3_Missense_Mutation_p.L343F|PES1_ENST00000405677.1_Missense_Mutation_p.L221F O00541 PESC_HUMAN pescadillo ribosomal biogenesis factor 1 360 Sufficient for nucleolar localization. cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor protein binding breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 29 CCCCAATGCACAAAGATTTGT 0.577000 5 649 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162340 90162340 + RNA SNP C C T rs138169571 by1000genomes TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr16:90162340C>T ENST00000564451.1 + 0 1693 TUBB8P7_ENST00000567960.1_RNA p.R358W(1) CATCCCACTCCGGGGGCTAAA 0.478000 8 651 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 33795853 33795853 + Missense_Mutation SNP G G A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr15:33795853G>A ENST00000389232.4 + 3 263 c.193G>A c.(193-195)Gtc>Atc p.V65I RYR3_ENST00000415757.3_Missense_Mutation_p.V65I NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 65 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) AGATCTCTGCGTCTGCAATTT 0.473000 5 96 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628236 29628236 + Missense_Mutation SNP G G C rs145412486 by1000genomes TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr20:29628236G>C ENST00000278882.3 + 6 618 c.238G>C c.(238-240)Gct>Cct p.A80P FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P p.A80P(8) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGGAAAATGGCTTTGTTGGC 0.363000 19 697 0 0 1 0 0 GPR162 27239 broad.mit.edu 37 12 6933844 6933844 + Silent SNP G G A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr12:6933844G>A ENST00000311268.3 + 2 1567 c.780G>A c.(778-780)tcG>tcA p.S260S GPR162_ENST00000428545.2_Intron|GPR162_ENST00000382315.3_Intron NM_019858.1 NP_062832.1 Q16538 GP162_HUMAN G protein-coupled receptor 162 260 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1) 18 TGGATGGCTCGGAGTCTGCCA 0.622000 24 346 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240371421 240371421 + Silent SNP C C T TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr1:240371421C>T ENST00000319653.9 + 5 3539 c.3309C>T c.(3307-3309)ccC>ccT p.P1103P NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1103 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding p.P1246P(2) NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CCCCTCTACCCGGAGTGGGCA 0.736000 5 217 0 0 1 0 0 IFITM3 10410 broad.mit.edu 37 11 320606 320606 + Missense_Mutation SNP G G T rs149004156 by1000genomes TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr11:320606G>T ENST00000399808.4 - 1 444 c.208C>A c.(208-210)Ccc>Acc p.P70T IFITM3_ENST00000602735.1_Missense_Mutation_p.P49T|RP11-326C3.11_ENST00000602756.1_RNA|IFITM3_ENST00000526811.1_Missense_Mutation_p.P49T|RP11-326C3.11_ENST00000602429.1_RNA NM_021034.2 NP_066362.2 Q01628 IFM3_HUMAN interferon induced transmembrane protein 3 70 Interaction with SPP1. response to virus|type I interferon-mediated signaling pathway integral to membrane|plasma membrane p.P70T(3) central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1) 18 all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122) AGGCAGCAGGGGTTCATGAAG 0.632000 15 618 7.68411e-24 8.30029e-24 1 1 0 APBB1 322 broad.mit.edu 37 11 6432092 6432092 + Missense_Mutation SNP C C A rs145320037 TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr11:6432092C>A ENST00000389906.2 - 2 585 c.486G>T c.(484-486)gaG>gaT p.E162D APBB1_ENST00000533407.1_Intron|APBB1_ENST00000299402.6_Missense_Mutation_p.E162D|APBB1_ENST00000311051.3_Missense_Mutation_p.E162D NM_001257325.1 NP_001244254.1 O00213 APBB1_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) 162 Glu-rich. apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding p.E162D(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1) 24 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) catcatcatcctcctcctcct 0.637000 7 222 0.00198382 0.00201909 1 1 0 CEL 1056 broad.mit.edu 37 9 135940495 135940495 + Missense_Mutation SNP G G A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr9:135940495G>A ENST00000372080.4 + 4 434 c.418G>A c.(418-420)Gcc>Acc p.A140T CEL_ENST00000351304.7_Missense_Mutation_p.A137T NM_001807.3 NP_001798.2 P19835 CEL_HUMAN carboxyl ester lipase 137 cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification cytosol|extracellular space acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196) CGGCCATGGGGCCAACTTCCT 0.612000 9 1668 0 0 1 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21015401 21015401 + Missense_Mutation SNP G G A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr12:21015401G>A ENST00000381545.3 + 7 756 c.537G>A c.(535-537)atG>atA p.M179I SLCO1B3_ENST00000553473.1_Missense_Mutation_p.M179I|LST3_ENST00000540229.1_Missense_Mutation_p.M179I|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.M179I|SLCO1B7_ENST00000554957.1_Intron NM_019844.3 NP_062818.1 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, member 1B3 179 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) TGGGGAATATGCTTCGTGGCA 0.378000 26 474 0 0 1 0 0 GLB1L 79411 broad.mit.edu 37 2 220104663 220104663 + Missense_Mutation SNP T T G TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr2:220104663T>G ENST00000295759.7 - 7 1013 c.700A>C c.(700-702)Acc>Ccc p.T234P GLB1L_ENST00000409640.1_Intron|GLB1L_ENST00000392089.2_Missense_Mutation_p.T234P|GLB1L_ENST00000356283.3_Intron|GLB1L_ENST00000497855.1_Intron Q6UWU2 GLB1L_HUMAN galactosidase, beta 1-like 234 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559) Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCTACAGTGGTATAGAGTCCC 0.527000 60 813 0 0 1 0 0 OTX1 5013 broad.mit.edu 37 2 63283274 63283274 + Silent SNP T T C TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr2:63283274T>C ENST00000282549.2 + 5 1164 c.888T>C c.(886-888)caT>caC p.H296H OTX1_ENST00000366671.3_Silent_p.H296H NM_014562.3 NP_055377.1 P32242 OTX1_HUMAN orthodenticle homeobox 1 296 His-rich. nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Lung NSC(7;0.121)|all_lung(7;0.211) accaccaccatcaccaccacc 0.642000 6 452 0 0 1 0 0 TNFRSF21 27242 broad.mit.edu 37 6 47253929 47253929 + Missense_Mutation SNP G G A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr6:47253929G>A ENST00000296861.2 - 2 892 c.499C>T c.(499-501)Cgg>Tgg p.R167W NM_014452.3 NP_055267.1 O75509 TNR21_HUMAN tumor necrosis factor receptor superfamily, member 21 167 cellular lipid metabolic process cytoplasm|integral to membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2) 21 Lung(136;0.189) TGCTTACACCGCACATCCTCA 0.542000 8 622 0 0 1 0 0 TRGC2 0 broad.mit.edu 37 7 38288863 38288863 + RNA SNP G G T TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr7:38288863G>T ENST00000436911.2 - 0 310 TTGGAGGAAAGATAATTTCTT 0.343000 6 181 0.217242 0.218195 1 1 0 MUC7 4589 broad.mit.edu 37 4 71346978 71346978 + Missense_Mutation SNP T T C TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr4:71346978T>C ENST00000413702.1 + 4 805 c.517T>C c.(517-519)Tct>Cct p.S173P MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000304887.5_Missense_Mutation_p.S173P|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 173 Thr-rich. extracellular region protein binding p.S173P(3) central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) ACCCACACCTTCTGCAACTAC 0.522000 8 787 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100684253 100684253 + Missense_Mutation SNP G G A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr7:100684253G>A ENST00000306151.4 + 3 9620 c.9556G>A c.(9556-9558)Gca>Aca p.A3186T NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3186 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CACCCTTTCAGCAACTCCTGT 0.483000 9 1598 0 0 1 0 0 PLEKHG5 57449 broad.mit.edu 37 1 6536011 6536013 + In_Frame_Del DEL CTC CTC - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr1:6536011_6536013delCTC ENST00000377748.1 - 4 855_857 c.358_360delGAG c.(358-360)del p.E120del PLEKHG5_ENST00000400915.3_In_Frame_Del_p.E99del|PLEKHG5_ENST00000535355.1_In_Frame_Del_p.E112del|PLEKHG5_ENST00000544978.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000537245.1_In_Frame_Del_p.E122del|PLEKHG5_ENST00000377725.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000340850.5_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377728.3_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377732.1_In_Frame_Del_p.E80del|PLEKHG5_ENST00000400913.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377737.2_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377740.3_In_Frame_Del_p.E120del NM_198681.3 NP_941374.2 O94827 PKHG5_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 5 99 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm Rho guanyl-nucleotide exchange factor activity|signal transducer activity liver(1) 1 Ovarian(185;0.02)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419) CCACAGAGCTCTCCTCCTCCTCC 0.631 OREG0013041 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 549 --- --- --- --- DNAJC11 55735 broad.mit.edu 37 1 6727803 6727804 + Frame_Shift_Del DEL TC TC - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr1:6727803_6727804delTC ENST00000377577.5 - 4 466_467 c.343_344delGA c.(343-345)afs p.E116fs DNAJC11_ENST00000377573.5_Frame_Shift_Del_p.E26fs|DNAJC11_ENST00000294401.7_Frame_Shift_Del_p.E116fs|DNAJC11_ENST00000542246.1_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000349363.6_Frame_Shift_Del_p.E78fs NM_018198.3 NP_060668.2 Q9NVH1 DJC11_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 11 116 protein folding heat shock protein binding|unfolded protein binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1) 32 Ovarian(185;0.0265)|all_lung(157;0.154) all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649) TCTCCTCTCTTCTCTCTCTCTC 0.505 21 312 --- --- --- --- AADACL3 126767 broad.mit.edu 37 1 12785494 12785494 + Frame_Shift_Del DEL G G - rs7513079 by1000genomes TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr1:12785494delG ENST00000332530.3 + 3 600 c.374delG c.(373-375)ttfs p.C125fs AADACL3_ENST00000359318.5_Frame_Shift_Del_p.C195fs NM_001103169.1 NP_001096639.1 Q5VUY0 ADCL3_HUMAN arylacetamide deacetylase-like 3 195 hydrolase activity breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 15 Ovarian(185;0.249) Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) ATCTGCTACTGTTTTTTTCAA 0.458 8 959 --- --- --- --- ARID1A 8289 broad.mit.edu 37 1 27107212 27107213 + Frame_Shift_Ins INS - - TT TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr1:27107212_27107213insTT ENST00000324856.7 + 20 7194_7195 c.6823_6824insTT c.(6823-6825)ttgfs p.L2275fs ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.L1892fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.L2058fs|ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.L603fs NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 2275 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.I2275T(1) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) TTCACAAGTCATTTGTGATGTA 0.500 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 46 552 --- --- --- --- PHACTR4 65979 broad.mit.edu 37 1 28800272 28800273 + Frame_Shift_Ins INS - - C TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr1:28800272_28800273insC ENST00000373839.3 + 7 1291_1292 c.1030_1031insC c.(1030-1032)cccfs p.P344fs PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs NM_001048183.1 NP_001041648.1 Q8IZ21 PHAR4_HUMAN phosphatase and actin regulator 4 344 Pro-rich. actin binding|protein phosphatase inhibitor activity p.P356fs*33(1) NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649) TCGCTCTCCGTCCCCCCCACTG 0.515 8 1028 --- --- --- --- C1orf94 84970 broad.mit.edu 37 1 34666398 34666398 + Frame_Shift_Del DEL A A - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr1:34666398delA ENST00000488417.1 + 3 1155 c.1035delA c.(1033-1035)ccfs p.P345fs C1orf94_ENST00000373374.3_Frame_Shift_Del_p.P155fs NM_001134734.1 NP_001128206.1 Q6P1W5 CA094_HUMAN chromosome 1 open reading frame 94 155 protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2) 32 Myeloproliferative disorder(586;0.0393) CCAAGGAGCCAAAAAAGGGTC 0.572 9 450 --- --- --- --- ZMYM4 9202 broad.mit.edu 37 1 35846959 35846960 + Frame_Shift_Ins INS - - A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr1:35846959_35846960insA ENST00000314607.6 + 8 1361_1362 c.1281_1282insA c.(1279-1284)ctaaaafs p.LK427fs ZMYM4_ENST00000373297.2_Frame_Shift_Ins_p.LK427fs NM_005095.2 NP_005086.2 Q5VZL5 ZMYM4_HUMAN zinc finger, MYM-type 4 427 multicellular organismal development DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2) 54 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CATATGAACTGAAAAAAAAACC 0.342 8 379 --- --- --- --- IPP 3652 broad.mit.edu 37 1 46184897 46184898 + Frame_Shift_Del DEL AC AC - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr1:46184897_46184898delAC ENST00000396478.3 - 6 1265_1266 c.1163_1164delGT c.(1162-1164)tfs p.C388fs NM_005897.2 NP_005888.1 Q9Y573 IPP_HUMAN intracisternal A particle-promoted polypeptide 388 actin cytoskeleton|cytoplasm actin binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2) 20 Acute lymphoblastic leukemia(166;0.155) TAGCCCCATAACACACACACAC 0.347 11 359 --- --- --- --- CYP4Z2P 0 broad.mit.edu 37 1 47325282 47325282 + RNA DEL A A - rs10712628 TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr1:47325282delA ENST00000505841.1 - 0 1204 NR_002788.2 ATTTCAATCCAAACATAGCTG 0.393 8 157 --- --- --- --- RP11-343N15.1 0 broad.mit.edu 37 1 121116645 121116645 + RNA DEL T T - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr1:121116645delT ENST00000437515.1 - 0 329 CAAGCCCCCCTTTAAAAAAAA 0.393 10 196 --- --- --- --- RP11-343N15.1 0 broad.mit.edu 37 1 121137698 121137699 + RNA INS - - TT rs57730437 TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr1:121137698_121137699insTT ENST00000437515.1 - 0 329 CTACTTACATCTTTTTGTCTTT 0.441 12 151 --- --- --- --- RP11-435B5.5 0 broad.mit.edu 37 1 143391935 143391936 + RNA INS - - TG TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr1:143391935_143391936insTG ENST00000428624.1 + 0 2065 RP11-435B5.4_ENST00000423249.1_lincRNA ATATATATATATAAAGAGATTG 0.252 18 33 --- --- --- --- SRGAP2B 0 broad.mit.edu 37 1 144043905 144043906 + RNA INS - - G TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr1:144043905_144043906insG ENST00000467933.1 + 0 1108 tcgctcacgctggagctgtaga 0.535 17 67 --- --- --- --- HRNR 388697 broad.mit.edu 37 1 152188637 152188638 + Frame_Shift_Ins INS - - CG TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr1:152188637_152188638insCG ENST00000368801.2 - 3 5542_5543 c.5467_5468insCG c.(5467-5469)ctcfs p.L1823fs FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 1823 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGATCCAGAGCCCTGTTGGCCA 0.594 10 1129 --- --- --- --- PRRC2C 23215 broad.mit.edu 37 1 171511148 171511149 + Frame_Shift_Ins INS - - A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr1:171511148_171511149insA ENST00000367742.3 + 16 4785_4786 c.4543_4544insA c.(4543-4545)aaafs p.K1515fs PRRC2C_ENST00000338920.4_Frame_Shift_Ins_p.K1513fs|PRRC2C_ENST00000392078.3_Frame_Shift_Ins_p.K1515fs|PRRC2C_ENST00000426496.2_Frame_Shift_Ins_p.K1513fs Q9Y520 PRC2C_HUMAN proline-rich coiled-coil 2C 1513 protein C-terminus binding AGAGAGGGATGAAAAAAAAAAT 0.391 10 278 --- --- --- --- IPO9 55705 broad.mit.edu 37 1 201843998 201844000 + In_Frame_Del DEL GAG GAG - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr1:201843998_201844000delGAG ENST00000361565.4 + 22 2941_2943 c.2872_2874delGAG c.(2872-2874)del p.E962del NM_018085.4 NP_060555.2 Q96P70 IPO9_HUMAN importin 9 962 protein import into nucleus cytoplasm|nucleus histone binding|protein transporter activity cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 38 ggaggaggaagaggaggaggagg 0.443 9 495 --- --- --- --- OTOF 9381 broad.mit.edu 37 2 26693554 26693556 + In_Frame_Del DEL CTT CTT - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr2:26693554_26693556delCTT ENST00000272371.2 - 32 4054_4056 c.3928_3930delAAG c.(3928-3930)del p.K1310del OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del|OTOF_ENST00000339598.3_In_Frame_Del_p.K543del|OTOF_ENST00000402415.3_In_Frame_Del_p.K620del|OTOF_ENST00000338581.6_In_Frame_Del_p.K543del NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 1310 Poly-Lys. 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) CCGCAGTGCCcttcttcttcttc 0.576 7 417 --- --- --- --- DHX57 90957 broad.mit.edu 37 2 39095411 39095413 + In_Frame_Del DEL CCA CCA - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr2:39095411_39095413delCCA ENST00000295373.6 - 2 261_263 c.135_137delTGG c.(133-138)gga>gg p.GG47del NM_198963.1 NP_945314.1 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 47 Gly-rich. ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_hematologic(82;0.248) Gccgccacctccaccaccaccac 0.532 9 490 --- --- --- --- DYSF 8291 broad.mit.edu 37 2 71801420 71801422 + In_Frame_Del DEL CCG CCG - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr2:71801420_71801422delCCG ENST00000258104.3 + 30 3544_3546 c.3267_3269delCCG c.(3265-3270)ttc>tt p.FR1089del DYSF_ENST00000409762.1_In_Frame_Del_p.FR1106del|DYSF_ENST00000429174.2_In_Frame_Del_p.FR1089del|DYSF_ENST00000410020.3_In_Frame_Del_p.FR1107del|DYSF_ENST00000409744.1_In_Frame_Del_p.FR1076del|DYSF_ENST00000409651.1_In_Frame_Del_p.FR1121del|DYSF_ENST00000409366.1_In_Frame_Del_p.FR1090del|DYSF_ENST00000410041.1_In_Frame_Del_p.FR1107del|DYSF_ENST00000394120.2_In_Frame_Del_p.FR1090del|DYSF_ENST00000413539.2_In_Frame_Del_p.FR1120del|DYSF_ENST00000409582.3_In_Frame_Del_p.FR1106del NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 1089 Arg-rich. cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 CAGATGCCTTCCGCCGCCGCCGC 0.655 7 1105 --- --- --- --- WBP1 23559 broad.mit.edu 37 2 74687542 74687543 + Frame_Shift_Ins INS - - C TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr2:74687542_74687543insC ENST00000393972.3 + 5 849_850 c.646_647insC c.(646-648)cccfs p.P216fs WBP1_ENST00000409737.1_Frame_Shift_Ins_p.P179fs|WBP1_ENST00000494741.1_3'UTR|WBP1_ENST00000233615.2_Frame_Shift_Ins_p.P182fs Q96G27 WBP1_HUMAN WW domain binding protein 1 182 WW domain binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1) 8 CCACCAGAGTGCCCCCCCTCAT 0.604 7 824 --- --- --- --- TEKT4 150483 broad.mit.edu 37 2 95539831 95539832 + Frame_Shift_Ins INS - - C rs33966600 TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr2:95539831_95539832insC ENST00000295201.4 + 3 828_829 c.691_692insC c.(691-693)ctcfs p.L231fs AC097374.2_ENST00000568768.1_RNA NM_144705.2 NP_653306.1 Q8WW24 TEKT4_HUMAN tektin 4 231 cell projection organization|microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 28 GGCTCATCCGTACTCCACCACC 0.663 7 525 --- --- --- --- TMEM127 55654 broad.mit.edu 37 2 96919781 96919783 + In_Frame_Del DEL TGC TGC - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr2:96919781_96919783delTGC ENST00000258439.2 - 4 736_738 c.480_482delGCA c.(478-483)cat>ca p.QH160del TMEM127_ENST00000435268.1_In_Frame_Del_p.QH76del|TMEM127_ENST00000432959.1_In_Frame_Del_p.QH160del NM_001193304.2|NM_017849.3 NP_001180233.1|NP_060319.1 O75204 TM127_HUMAN transmembrane protein 127 160 negative regulation of cell proliferation|negative regulation of TOR signaling cascade cytoplasm|integral to membrane|plasma membrane endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1) 5 GTACTTCTTATGCTGCTGCTGCT 0.557 13 567 --- --- --- --- SLC20A1 6574 broad.mit.edu 37 2 113416607 113416608 + Frame_Shift_Del DEL AG AG - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr2:113416607_113416608delAG ENST00000272542.3 + 7 1523_1524 c.984_985delAG c.(982-987)ccagfs p.PE328fs SLC20A1_ENST00000480984.1_3'UTR NM_005415.4 NP_005406.3 Q8WUM9 S20A1_HUMAN solute carrier family 20 (phosphate transporter), member 1 328 phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to plasma membrane inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity p.R332fs*14(1) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3) 28 AGGAAGCTCCAGAGAGAGAGAG 0.515 10 395 --- --- --- --- SCN9A 6335 broad.mit.edu 37 2 167055992 167055992 + Frame_Shift_Del DEL T T - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr2:167055992delT ENST00000375387.4 - 27 5500 c.5160delA c.(5158-5160)aafs p.K1720fs SCN9A_ENST00000303354.6_Frame_Shift_Del_p.K1720fs|SCN9A_ENST00000409672.1_Frame_Shift_Del_p.K1708fs|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Frame_Shift_Del_p.K1719fs 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 7 1303 --- --- --- --- KLHL41 10324 broad.mit.edu 37 2 170366496 170366496 + Frame_Shift_Del DEL A A - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr2:170366496delA ENST00000284669.1 + 1 285 c.208delA c.(208-210)aafs p.K72fs BBS5_ENST00000554017.1_Intron|RP11-724O16.1_ENST00000513963.1_Intron NM_006063.2 NP_006054.2 kelch-like family member 41 TGATGAGGCGAAAAAAAAGGA 0.388 9 798 --- --- --- --- EFHD1 80303 broad.mit.edu 37 2 233546363 233546365 + In_Frame_Del DEL GGA GGA - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr2:233546363_233546365delGGA ENST00000264059.3 + 4 1131_1133 c.654_656delGGA c.(652-657)cgg>cg p.RE218del EFHD1_ENST00000409708.1_In_Frame_Del_p.RE106del|EFHD1_ENST00000409613.1_In_Frame_Del_p.RE122del|EFHD1_ENST00000410095.1_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 9 506 --- --- --- --- KLHDC8B 200942 broad.mit.edu 37 3 49211714 49211714 + Frame_Shift_Del DEL C C - rs150393420 TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr3:49211714delC ENST00000332780.2 + 3 628 c.419delC c.(418-420)gcfs p.A140fs KLHDC8B_ENST00000476495.2_3'UTR NM_173546.2 NP_775817.1 Q8IXV7 KLD8B_HUMAN kelch domain containing 8B 140 cytoplasm endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1) 7 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CCTGACACGGCCCCCCAGGCC 0.607 7 733 --- --- --- --- PRKCD 5580 broad.mit.edu 37 3 53220653 53220653 + Frame_Shift_Del DEL G G - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr3:53220653delG ENST00000394729.2 + 13 1622 c.1294delG c.(1294-1296)ggfs p.G433fs PRKCD_ENST00000330452.3_Frame_Shift_Del_p.G433fs NM_212539.1 NP_997704.1 Q05655 KPCD_HUMAN protein kinase C, delta 433 Protein kinase. activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction cytosol|endoplasmic reticulum|nucleoplasm ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Ovarian(412;0.0728) OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173) GTTCCTCAACGGGGGGGACCT 0.602 8 1601 --- --- --- --- PARP14 54625 broad.mit.edu 37 3 122433231 122433232 + Frame_Shift_Ins INS - - A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr3:122433231_122433232insA ENST00000474629.2 + 12 4221_4222 c.3955_3956insA c.(3955-3957)aaafs p.K1319fs NM_017554.2 NP_060024.2 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 1319 Macro 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(114;0.0531) GCAGGAGTGTGAAAAAAAAAAT 0.421 12 238 --- --- --- --- MECOM 2122 broad.mit.edu 37 3 168833257 168833257 + Frame_Shift_Del DEL T T - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr3:168833257delT ENST00000464456.1 - 7 3039 c.1839delA c.(1837-1839)aafs p.K613fs MECOM_ENST00000494292.1_Frame_Shift_Del_p.K801fs|MECOM_ENST00000264674.3_Frame_Shift_Del_p.K678fs|MECOM_ENST00000468789.1_Frame_Shift_Del_p.K613fs|MECOM_ENST00000472280.1_Frame_Shift_Del_p.K614fs|MECOM_ENST00000392736.3_Frame_Shift_Del_p.K613fs|MECOM_ENST00000433243.2_Frame_Shift_Del_p.K614fs|MECOM_ENST00000460814.1_Frame_Shift_Del_p.K613fs NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 22 sequence-specific DNA binding transcription factor activity p.G614fs*30(2) NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 CGTTGCTTCCTTTTTTTCCCC 0.498 7 259 --- --- --- --- TBC1D1 23216 broad.mit.edu 37 4 38020014 38020014 + Frame_Shift_Del DEL A A - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr4:38020014delA ENST00000261439.4 + 4 1277 c.922delA c.(922-924)aafs p.K309fs TBC1D1_ENST00000508802.1_Frame_Shift_Del_p.K309fs NM_001253914.1|NM_001253915.1|NM_015173.3 NP_001240843.1|NP_001240844.1|NP_055988.2 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 309 PID. nucleus Rab GTPase activator activity NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 TCCTGACACCAAAAAAATAGC 0.313 8 384 --- --- --- --- NKX6-1 4825 broad.mit.edu 37 4 85414481 85414483 + In_Frame_Del DEL GCC GCC - rs143458004 byFrequency TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr4:85414481_85414483delGCC ENST00000295886.4 - 3 1284_1286 c.1063_1065delGGC c.(1063-1065)del p.G355del NKX6-1_ENST00000515820.2_In_Frame_Del_p.G81del NM_006168.2 NP_006159.2 P78426 NKX61_HUMAN NK6 homeobox 1 355 Involved in DNA-binding (By similarity).|Poly-Gly. detection of glucose|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation nucleus central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1) 15 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.0013) GCAGTAGGAGGCCGCCGCCGCCG 0.675 7 276 --- --- --- --- NAP1L5 266812 broad.mit.edu 37 4 89618431 89618433 + In_Frame_Del DEL CCT CCT - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr4:89618431_89618433delCCT ENST00000323061.5 - 1 953_955 c.473_475delAGG c.(472-477)gct>g p.EA158del HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Intron|HERC3_ENST00000402738.1_Intron NM_153757.2 NP_715638.1 Q96NT1 NP1L5_HUMAN nucleosome assembly protein 1-like 5 158 Glu-rich. nucleosome assembly nucleus protein binding endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(123;0.000181) TCTGCCGCAGcctcctcctcctc 0.626 13 680 --- --- --- --- NPNT 255743 broad.mit.edu 37 4 106863682 106863684 + In_Frame_Del DEL CCA CCA - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr4:106863682_106863684delCCA ENST00000379987.2 + 8 1198_1200 c.982_984delCCA c.(982-984)del p.P333del NPNT_ENST00000453617.2_In_Frame_Del_p.P350del|NPNT_ENST00000427316.2_In_Frame_Del_p.P363del|NPNT_ENST00000506666.1_In_Frame_Del_p.P363del|NPNT_ENST00000305572.8_In_Frame_Del_p.P333del|NPNT_ENST00000514622.1_In_Frame_Del_p.P333del NM_001033047.2 NP_001028219.1 Q6UXI9 NPNT_HUMAN nephronectin 333 Pro-rich. cell differentiation membrane calcium ion binding kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1) 21 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.41e-07) AATTCCTACTCCACCACCACCAC 0.522 15 463 --- --- --- --- LARP1B 55132 broad.mit.edu 37 4 129127626 129127627 + Frame_Shift_Ins INS - - A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr4:129127626_129127627insA ENST00000326639.6 + 18 2564_2565 c.2353_2354insA c.(2353-2355)aaafs p.K785fs LARP1B_ENST00000354456.3_Frame_Shift_Ins_p.K204fs|LARP1B_ENST00000506199.1_3'UTR|LARP1B_ENST00000264584.5_Frame_Shift_Ins_p.K726fs|LARP1B_ENST00000441387.1_Intron NM_018078.2 NP_060548.2 Q659C4 LAR1B_HUMAN La ribonucleoprotein domain family, member 1B 785 RNA binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3) 34 TTATGGACTGGAAAAAAAATTC 0.292 8 582 --- --- --- --- PCDH10 57575 broad.mit.edu 37 4 134073569 134073571 + In_Frame_Del DEL CTG CTG - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr4:134073569_134073571delCTG ENST00000264360.4 + 1 3100_3102 c.2274_2276delCTG c.(2272-2277)ctc>ct p.LC758del NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 758 Cys-rich. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) ATTGCTGCCTCTGCTGCTGCTGC 0.581 11 342 --- --- --- --- OTUD4 54726 broad.mit.edu 37 4 146077123 146077125 + In_Frame_Del DEL CAG CAG - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr4:146077123_146077125delCAG ENST00000454497.2 - 8 595_597 c.458_460delCTG c.(457-462)gat>g p.AD153del OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 218 OTU. protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) CCATTCACATCAGCAGCAGCAGC 0.340 7 399 --- --- --- --- SORBS2 8470 broad.mit.edu 37 4 186544620 186544622 + In_Frame_Del DEL GGT GGT - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr4:186544620_186544622delGGT ENST00000431808.1 - 14 2512_2514 c.1949_1951delACC c.(1948-1953)cgc>c p.HR650del SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_In_Frame_Del_p.HR750del|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000418609.1_In_Frame_Del_p.HR554del|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_In_Frame_Del_p.HR650del 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 8 306 --- --- --- --- PAPD7 11044 broad.mit.edu 37 5 6755013 6755014 + Frame_Shift_Del DEL AC AC - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr5:6755013_6755014delAC ENST00000230859.6 + 13 1713_1714 c.1584_1585delAC c.(1582-1587)aaacfs p.KH528fs NM_001171805.1|NM_001171806.1|NM_006999.4 NP_001165276.1|NP_001165277.1|NP_008930.1 Q5XG87 PAPD7_HUMAN PAP associated domain containing 7 528 cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion nucleus DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 GGAGGAAAAAACACACACACAC 0.653 7 306 --- --- --- --- DROSHA 29102 broad.mit.edu 37 5 31421389 31421389 + Frame_Shift_Del DEL C C - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr5:31421389delC ENST00000511367.2 - 29 3759 c.3515delG c.(3514-3516)gafs p.G1172fs DROSHA_ENST00000344624.3_Frame_Shift_Del_p.G1172fs|DROSHA_ENST00000513349.1_Frame_Shift_Del_p.G1135fs|DROSHA_ENST00000442743.1_Frame_Shift_Del_p.G1135fs NM_013235.4 NP_037367.3 Q9NRR4 RNC_HUMAN drosha, ribonuclease type III 1172 Necessary for interaction with DGCR8 and pri-miRNA processing activity.|RNase III 2. gene silencing by RNA|ribosome biogenesis|RNA processing nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1) 66 AGTTAAGTGTCCTTCATGATG 0.378 53 591 --- --- --- --- PDZD2 23037 broad.mit.edu 37 5 32090059 32090061 + In_Frame_Del DEL TCC TCC - rs61744453 by1000genomes TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr5:32090059_32090061delTCC ENST00000438447.1 + 20 6893_6895 c.6505_6507delTCC c.(6505-6507)del p.S2173del PDZD2_ENST00000282493.3_In_Frame_Del_p.S2173del O15018 PDZD2_HUMAN PDZ domain containing 2 2173 Ser-rich. cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 AAAACTGGCGTCCTCCTCCTCCT 0.527 7 739 --- --- --- --- THBS4 7060 broad.mit.edu 37 5 79372774 79372776 + In_Frame_Del DEL TGA TGA - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr5:79372774_79372776delTGA ENST00000350881.2 + 16 2179_2181 c.1989_1991delTGA c.(1987-1992)tgt>tg p.CD663del CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_In_Frame_Del_p.CD572del|CTD-2201I18.1_ENST00000514042.1_RNA NM_003248.4 NP_003239.2 P35443 TSP4_HUMAN thrombospondin 4 663 endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation basement membrane|extracellular space calcium ion binding|heparin binding|integrin binding|structural molecule activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3) 34 Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34) GTGACGAGTGTGATGATGATGAT 0.562 10 1117 --- --- --- --- RAPGEF6 51735 broad.mit.edu 37 5 130815368 130815369 + Frame_Shift_Ins INS - - T TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr5:130815368_130815369insT ENST00000509018.1 - 16 2123_2124 c.1918_1919insA c.(1918-1920)taafs p.*640fs RAPGEF6_ENST00000507093.1_Frame_Shift_Ins_p.*640fs|FNIP1_ENST00000514667.1_Frame_Shift_Ins_p.*690fs|RAPGEF6_ENST00000512052.1_Frame_Shift_Ins_p.*355fs|RAPGEF6_ENST00000296859.6_Frame_Shift_Ins_p.*640fs|RAPGEF6_ENST00000308008.6_Frame_Shift_Ins_p.*640fs|RAPGEF6_ENST00000307984.5_Frame_Shift_Ins_p.*640fs|RAPGEF6_ENST00000510071.1_Frame_Shift_Ins_p.*640fs NM_001164386.1|NM_016340.5 NP_001157858.1|NP_057424.3 Q8TEU7 RPGF6_HUMAN Rap guanine nucleotide exchange factor (GEF) 6 640 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) ATGGCGATTACTTTTTTTTTCA 0.366 8 565 --- --- --- --- PCDHB2 0 broad.mit.edu 37 5 140474590 140474590 + Frame_Shift_Del DEL A A - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr5:140474590delA ENST00000194155.4 + 1 364 c.216delA c.(214-216)ggfs p.G72fs NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 72 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTTCCAAAGGAAAAAAAATGC 0.522 8 464 --- --- --- --- UNC5A 90249 broad.mit.edu 37 5 176301302 176301304 + In_Frame_Del DEL CAC CAC - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr5:176301302_176301304delCAC ENST00000329542.4 + 8 1387_1389 c.1113_1115delCAC c.(1111-1116)agc>ag p.ST371del UNC5A_ENST00000261961.3_In_Frame_Del_p.ST331del NM_133369.2 NP_588610.2 Q6ZN44 UNC5A_HUMAN unc-5 homolog A (C. elegans) 371 apoptosis|axon guidance|regulation of apoptosis integral to membrane|plasma membrane endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CGGACCTCAGCACCACCACCACC 0.645 9 755 --- --- --- --- HIST1H1D 3007 broad.mit.edu 37 6 26234632 26234632 + Frame_Shift_Del DEL T T - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr6:26234632delT ENST00000244534.5 - 1 584 c.530delA c.(529-531)agfs p.K177fs NM_005320.2 NP_005311.1 P16402 H13_HUMAN histone cluster 1, H1d 177 nucleosome assembly nucleosome|nucleus DNA binding breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 23 all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167) TGTTTTCACCTTTTTCGCACT 0.537 7 879 --- --- --- --- TREML2 79865 broad.mit.edu 37 6 41168714 41168716 + In_Frame_Del DEL CAG CAG - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 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 8 248 --- --- --- --- CASP8AP2 9994 broad.mit.edu 37 6 90556398 90556398 + RNA DEL T T - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr6:90556398delT ENST00000551025.1 + 0 1492 Q9UKL3 C8AP2_HUMAN caspase 8 associated protein 2 cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2) 51 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) TCTAAtttccttttttttttt 0.418 7 35 --- --- --- --- GRM1 2911 broad.mit.edu 37 6 146755399 146755401 + In_Frame_Del DEL CAG CAG - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr6:146755399_146755401delCAG ENST00000361719.2 + 9 3522_3524 c.3052_3054delCAG c.(3052-3054)del p.Q1022del GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000282753.1_In_Frame_Del_p.Q1022del NM_001278064.1 NP_001264993.1 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 1022 Gln/Pro-rich. 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) CCCTCCTCTCCAGCAGCAGCAGC 0.660 8 905 --- --- --- --- AGPAT4 56895 broad.mit.edu 37 6 161560589 161560589 + Frame_Shift_Del DEL G G - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr6:161560589delG ENST00000320285.4 - 8 1119 c.907delC c.(907-909)ggfs p.R304fs AGPAT4_ENST00000366911.5_3'UTR|AGPAT4_ENST00000457520.2_Frame_Shift_Del_p.R142fs NM_020133.2 NP_064518.1 Q9NRZ5 PLCD_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 4 304 phospholipid biosynthetic process integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding p.R303fs*7(2)|p.R303fs*60(1) endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2) 25 Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285) OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05) CAGGGCCGCCGGGGGGGCACC 0.627 11 976 --- --- --- --- TRGC1 0 broad.mit.edu 37 7 38301855 38301856 + RNA DEL GT GT - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr7:38301855_38301856delGT ENST00000443402.2 - 0 330 NM_001003799.1|NM_001003806.1 NP_001003799.1|NP_001003806.1 TCAATTGTTCGTGTGTGTGTGT 0.356 22 718 --- --- --- --- TAF6 6878 broad.mit.edu 37 7 99705124 99705124 + Frame_Shift_Del DEL G G - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr7:99705124delG ENST00000344095.4 - 15 2304 c.1779delC c.(1777-1779)ccfs p.P593fs TAF6_ENST00000453269.2_Frame_Shift_Del_p.P593fs|TAF6_ENST00000437822.2_Frame_Shift_Del_p.P630fs|TAF6_ENST00000452041.1_Frame_Shift_Del_p.P593fs|TAF6_ENST00000418432.2_Frame_Shift_Del_p.P517fs|AP4M1_ENST00000421755.1_Intron|TAF6_ENST00000472509.1_Frame_Shift_Del_p.P650fs NM_005641.3 NP_005632.1 P49848 TAF6_HUMAN TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa 593 negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2) 26 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GAGCAGTGCTGGGGGGTGCGG 0.657 7 1002 --- --- --- --- GIGYF1 64599 broad.mit.edu 37 7 100284335 100284337 + In_Frame_Del DEL CCT CCT - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr7:100284335_100284337delCCT ENST00000275732.5 - 7 1838_1840 c.629_631delAGG c.(628-633)ggc>g p.EG210del GIGYF1_ENST00000471340.2_Intron NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 210 Poly-Glu. p.E210delE(1) central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) CTCCAGCTGCcctcctcctcctc 0.700 7 354 --- --- --- --- ZAN 7455 broad.mit.edu 37 7 100369720 100369721 + RNA INS - - T TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr7:100369720_100369721insT ENST00000542585.1 + 0 5573 ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) cctctaaattcttttttttttt 0.535 11 36 --- --- --- --- FLNC 2318 broad.mit.edu 37 7 128482291 128482294 + Frame_Shift_Del DEL GACG GACG - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr7:128482291_128482294delGACG ENST00000325888.8 + 14 2389_2392 c.2128_2131delGACG c.(2128-2133)gcfs p.DG710fs FLNC_ENST00000346177.6_Frame_Shift_Del_p.DG710fs NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 710 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 ACAGGACGCCGACGGCTGTCCCAT 0.623 OREG0018297 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 167 --- --- --- --- TRBV7-1 0 broad.mit.edu 37 7 142032162 142032163 + RNA DEL GA GA - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr7:142032162_142032163delGA ENST00000547918.2 + 0 82 atgtgtgtgtgAGAGAGAGAGA 0.505 7 64 --- --- --- --- TRBV6-8 0 broad.mit.edu 37 7 142124496 142124497 + RNA INS - - G rs72463875 TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr7:142124496_142124497insG ENST00000390376.2 - 0 49 AATCCACGCAAGGGCCCTGCCC 0.614 10 641 --- --- --- --- KAT6A 7994 broad.mit.edu 37 8 41798420 41798422 + In_Frame_Del DEL CTC CTC - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr8:41798420_41798422delCTC ENST00000396930.3 - 16 3520_3522 c.2977_2979delGAG c.(2977-2979)del p.E993del KAT6A_ENST00000265713.2_In_Frame_Del_p.E993del|KAT6A_ENST00000406337.1_In_Frame_Del_p.E993del NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 993 Poly-Glu. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding GGCTTTCCGGCTCCTCCTCCTCC 0.567 9 650 --- --- --- --- CSMD3 114788 broad.mit.edu 37 8 113241029 113241029 + Frame_Shift_Del DEL A A - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr8:113241029delA ENST00000297405.5 - 70 11164 c.10920delT c.(10918-10920)ttfs p.F3640fs CSMD3_ENST00000352409.3_Frame_Shift_Del_p.F3570fs|CSMD3_ENST00000455883.2_Frame_Shift_Del_p.F3471fs|CSMD3_ENST00000343508.3_Frame_Shift_Del_p.F3600fs NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3640 integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 ATATAAGTGCAAAAAAAGGCA 0.303 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 7 346 --- --- --- --- KCNQ3 3786 broad.mit.edu 37 8 133150232 133150233 + Frame_Shift_Ins INS - - T TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr8:133150232_133150233insT ENST00000388996.4 - 12 2019_2020 c.1599_1600insA c.(1597-1602)aatcaafs p.NQ533fs KCNQ3_ENST00000521134.1_Frame_Shift_Ins_p.NQ413fs|KCNQ3_ENST00000519445.1_Frame_Shift_Ins_p.NQ533fs NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 533 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity p.F534I(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) GTCTCCTTGAATTTTTTTTTAT 0.455 18 677 --- --- --- --- DAB2IP 153090 broad.mit.edu 37 9 124522389 124522391 + In_Frame_Del DEL AAG AAG - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr9:124522389_124522391delAAG ENST00000408936.3 + 6 1023_1025 c.841_843delAAG c.(841-843)del p.K285del DAB2IP_ENST00000309989.1_In_Frame_Del_p.K161del|DAB2IP_ENST00000259371.2_In_Frame_Del_p.K257del Q5VWQ8 DAB2P_HUMAN DAB2 interacting protein 285 C2. activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter cytoplasm|intrinsic to internal side of plasma membrane 14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 27 GGAGACCGACAAGAAGAAGAAGA 0.601 7 424 --- --- --- --- COL5A1 1289 broad.mit.edu 37 9 137693829 137693829 + Frame_Shift_Del DEL C C - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr9:137693829delC ENST00000371817.3 + 38 3396 c.2982delC c.(2980-2982)ggfs p.G994fs NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 994 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 p.G997fs*17(1) 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) GCCCTCCAGGCCCCCCCGGCG 0.657 9 682 --- --- --- --- EXD3 54932 broad.mit.edu 37 9 140267462 140267462 + Frame_Shift_Del DEL G G - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr9:140267462delG ENST00000340951.4 - 5 552 c.357delC c.(355-357)ccfs p.P119fs EXD3_ENST00000342129.4_5'UTR|EXD3_ENST00000475006.1_5'UTR|EXD3_ENST00000479452.1_Frame_Shift_Del_p.P119fs NM_017820.3 NP_060290.3 Q8N9H8 MUT7_HUMAN exonuclease 3'-5' domain containing 3 119 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2) 12 CCGCAAGGCTGGGGGGGCTCT 0.647 7 646 --- --- --- --- PARD3 56288 broad.mit.edu 37 10 34671501 34671501 + Frame_Shift_Del DEL T T - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr10:34671501delT ENST00000374789.3 - 9 1691 c.1366delA c.(1366-1368)tafs p.I456fs PARD3_ENST00000374773.1_Frame_Shift_Del_p.I456fs|PARD3_ENST00000374776.1_Frame_Shift_Del_p.I456fs|PARD3_ENST00000545693.1_Frame_Shift_Del_p.I456fs|PARD3_ENST00000346874.4_Frame_Shift_Del_p.I456fs|PARD3_ENST00000545260.1_Frame_Shift_Del_p.I412fs|PARD3_ENST00000340077.5_Frame_Shift_Del_p.I456fs|PARD3_ENST00000374788.3_Frame_Shift_Del_p.I456fs|PARD3_ENST00000374790.3_Frame_Shift_Del_p.I412fs|PARD3_ENST00000544292.1_Frame_Shift_Del_p.I186fs|PARD3_ENST00000350537.4_Frame_Shift_Del_p.I456fs|PARD3_ENST00000374794.3_Frame_Shift_Del_p.I412fs NM_019619.3 NP_062565.2 Q8TEW0 PARD3_HUMAN par-3 family cell polarity regulator 456 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) CTCTTGCCTATTTTTTTGGTG 0.433 9 635 --- --- --- --- PCDH15 65217 broad.mit.edu 37 10 55587198 55587200 + In_Frame_Del DEL GGC GGC - rs12246234 TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr10:55587198_55587200delGGC ENST00000373965.2 - 33 4735_4737 c.4341_4343delGCC c.(4339-4344)cct>cc p.PP1449del PCDH15_ENST00000414778.1_In_Frame_Del_p.PP1444del|PCDH15_ENST00000395433.1_In_Frame_Del_p.PP1417del|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395438.1_In_Frame_Del_p.PP1442del|PCDH15_ENST00000395430.1_In_Frame_Del_p.PP1439del|PCDH15_ENST00000409834.1_In_Frame_Del_p.PP1053del|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000437009.1_In_Frame_Del_p.PP1371del|PCDH15_ENST00000395445.1_In_Frame_Del_p.PP1449del|PCDH15_ENST00000320301.6_In_Frame_Del_p.PP1442del|PCDH15_ENST00000395432.2_In_Frame_Del_p.PP1402del|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000361849.3_In_Frame_Del_p.PP1442del NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1442 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) ACCTggcggaggcggcggcggcg 0.571 HNSCC(58;0.16) 12 418 --- --- --- --- ANK3 288 broad.mit.edu 37 10 61828745 61828747 + In_Frame_Del DEL GTG GTG - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr10:61828745_61828747delGTG ENST00000280772.1 - 37 12083_12085 c.11892_11894delCAC c.(11890-11895)act>ac p.TT3964del ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3964 Thr-rich. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 ggtggtggcagtggtggtggtgg 0.498 9 581 --- --- --- --- RTKN2 219790 broad.mit.edu 37 10 63958148 63958149 + Frame_Shift_Ins INS - - T TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr10:63958148_63958149insT ENST00000373789.3 - 12 1444_1445 c.1348_1349insA c.(1348-1350)tgafs p.*450fs RTKN2_ENST00000315289.2_Frame_Shift_Ins_p.*252fs|RTKN2_ENST00000395265.1_Frame_Shift_Ins_p.*471fs NM_145307.2 NP_660350.2 Q8IZC4 RTKN2_HUMAN rhotekin 2 450 signal transduction intracellular p.I450fs*67(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Prostate(12;0.0297)|all_hematologic(501;0.215) TGTCTCTTCAATTTTTTTTTGT 0.337 7 308 --- --- --- --- CCAR1 55749 broad.mit.edu 37 10 70509285 70509286 + Frame_Shift_Del DEL GA GA - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr10:70509285_70509286delGA ENST00000265872.6 + 10 1080_1081 c.961_962delGA c.(961-963)gfs p.E321fs CCAR1_ENST00000535016.1_Frame_Shift_Del_p.E306fs|CCAR1_ENST00000543719.1_Frame_Shift_Del_p.E306fs NM_018237.2 NP_060707.2 Q8IX12 CCAR1_HUMAN cell division cycle and apoptosis regulator 1 321 Arg-rich. apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm|perinuclear region of cytoplasm calcium ion binding|nucleic acid binding|protein binding NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3) 56 TTTCAGTCGTGAGAGAGAGAGA 0.391 7 149 --- --- --- --- PLAU 5328 broad.mit.edu 37 10 75673298 75673298 + Splice_Site DEL A A - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr10:75673298delA ENST00000446342.1 + 6 893 c.409_splice c.e6-1 p.G137_splice PLAU_ENST00000372762.4_Splice_Site_p.G118_splice|PLAU_ENST00000494287.1_3'UTR|C10orf55_ENST00000409178.1_Intron|C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000372764.3_Splice_Site_p.G154_splice NM_001145031.1 NP_001138503.1 P00749 UROK_HUMAN plasminogen activator, urokinase 154 Kringle. blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction cell surface|extracellular space|plasma membrane serine-type endopeptidase activity cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2) 16 Prostate(51;0.0112) Amiloride(DB00594)|Urokinase(DB00013) GTCCTCCAGGAAAAAAGCCCT 0.517 8 1699 --- --- --- --- FTH1 2495 broad.mit.edu 37 11 61732517 61732517 + Frame_Shift_Del DEL T T - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr11:61732517delT ENST00000273550.7 - 3 563 c.329delA c.(328-330)atfs p.N110fs FTH1_ENST00000532601.1_Frame_Shift_Del_p.N40fs|BEST1_ENST00000449131.2_3'UTR|FTH1_ENST00000529631.1_Intron|FTH1_ENST00000529191.1_Intron|FTH1_ENST00000526640.1_Frame_Shift_Del_p.N80fs NM_002032.2 NP_002023.2 P02794 FRIH_HUMAN ferritin, heavy polypeptide 1 110 Ferritin-like diiron. cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport cytosol|intracellular ferritin complex ferric iron binding|ferroxidase activity|protein binding NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 8 Iron Dextran(DB00893) CTGATTCACATTTTTTTCCAA 0.423 7 1113 --- --- --- --- LRFN4 78999 broad.mit.edu 37 11 66625231 66625233 + In_Frame_Del DEL CTG CTG - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr11:66625231_66625233delCTG ENST00000309602.4 + 1 259_261 c.16_18delCTG c.(16-18)del p.L10del LRFN4_ENST00000393952.3_In_Frame_Del_p.L10del|PC_ENST00000393958.2_Intron|PC_ENST00000393955.2_Intron|PC_ENST00000393960.1_Intron|LRFN4_ENST00000531590.1_3'UTR NM_024036.4 NP_076941.2 Q6PJG9 LRFN4_HUMAN leucine rich repeat and fibronectin type III domain containing 4 10 integral to membrane breast(1)|lung(1)|prostate(1) 3 CCCGCCGCTCCTGCTGCTGCTGC 0.719 9 228 --- --- --- --- RP11-360K13.1 0 broad.mit.edu 37 11 96514999 96515000 + RNA DEL AA AA - rs112766481 TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr11:96514999_96515000delAA ENST00000527528.1 + 0 158 CTTAGTTATTaaaaaaaaaaaa 0.371 8 51 --- --- --- --- CD3G 917 broad.mit.edu 37 11 118220583 118220583 + Frame_Shift_Del DEL A A - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr11:118220583delA ENST00000532917.1 + 3 273 c.205delA c.(205-207)aafs p.K71fs CD3G_ENST00000392883.2_Frame_Shift_Del_p.K11fs|CD3G_ENST00000532903.1_3'UTR NM_000073.2 NP_000064.1 P09693 CD3G_HUMAN CD3g molecule, gamma (CD3-TCR complex) 71 Ig-like. establishment or maintenance of cell polarity|protein complex assembly|protein transport|regulation of apoptosis|T cell activation|T cell costimulation|T cell receptor signaling pathway integral to plasma membrane|T cell receptor complex protein heterodimerization activity|receptor signaling complex scaffold activity|T cell receptor binding|transmembrane receptor activity breast(2)|kidney(1)|large_intestine(2)|skin(1) 6 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.04e-05) AACTGAAGATAAAAAAAAATG 0.403 13 387 --- --- --- --- OR8D4 338662 broad.mit.edu 37 11 123777441 123777442 + Frame_Shift_Ins INS - - T rs79561639 byFrequency TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr11:123777441_123777442insT ENST00000321355.2 + 1 333_334 c.303_304insT c.(301-306)ctttttfs p.LF101fs NM_001005197.1 NP_001005197.1 Q8NGM9 OR8D4_HUMAN olfactory receptor, family 8, subfamily D, member 4 101 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) TGATTCAGCTGTTTTTTTTCTG 0.436 10 1150 --- --- --- --- FAR2 55711 broad.mit.edu 37 12 29450110 29450110 + Frame_Shift_Del DEL A A - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr12:29450110delA ENST00000182377.4 + 4 790 c.522delA c.(520-522)ccfs p.P174fs RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000536681.2_Frame_Shift_Del_p.P174fs|FAR2_ENST00000547116.1_Frame_Shift_Del_p.P77fs NM_018099.3 NP_060569.3 Q96K12 FACR2_HUMAN fatty acyl CoA reductase 2 174 ether lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1) 29 CTGTGGAGCCAAAAAAAATCA 0.388 11 639 --- --- --- --- SCAF11 9169 broad.mit.edu 37 12 46318575 46318577 + In_Frame_Del DEL GGT GGT - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr12:46318575_46318577delGGT ENST00000465950.1 - 2 4104_4106 c.2895_2897delACC c.(2893-2898)ccc>cc p.PP969del SCAF11_ENST00000419565.2_In_Frame_Del_p.PP1284del|SCAF11_ENST00000369367.3_In_Frame_Del_p.PP1284del|SCAF11_ENST00000549162.1_In_Frame_Del_p.PP1092del Q99590 SCAFB_HUMAN SR-related CTD-associated factor 11 1284 Arg-rich. spliceosome assembly nucleus protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 69 TGGGGGAGGGGGTGGTGGTGGTG 0.483 8 476 --- --- --- --- KRT73 319101 broad.mit.edu 37 12 53001991 53001991 + Frame_Shift_Del DEL T T - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr12:53001991delT ENST00000305748.3 - 9 1646 c.1612delA c.(1612-1614)ccfs p.T538fs RP11-641A6.2_ENST00000551089.1_RNA NM_175068.2 NP_778238.1 Q86Y46 K2C73_HUMAN keratin 73 538 Tail. keratin filament structural molecule activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.189) TATCTCATGGTTTTTTTGGTG 0.532 7 1065 --- --- --- --- SFSWAP 6433 broad.mit.edu 37 12 132281734 132281736 + In_Frame_Del DEL AGA AGA - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr12:132281734_132281736delAGA ENST00000261674.4 + 16 2687_2689 c.2546_2548delAGA c.(2545-2550)gag>g p.EK849del SFSWAP_ENST00000539506.1_3'UTR|SFSWAP_ENST00000541286.1_In_Frame_Del_p.EK901del NM_004592.3 NP_004583.2 Q12872 SFSWA_HUMAN splicing factor, suppressor of white-apricot homolog (Drosophila) 849 Arg/Ser-rich (RS domain). mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2) 25 AGTCCCCACGAGAAGAAGAAGAA 0.606 12 970 --- --- --- --- PABPC3 5042 broad.mit.edu 37 13 25671333 25671333 + Frame_Shift_Del DEL A A - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr13:25671333delA ENST00000281589.3 + 1 1034 c.997delA c.(997-999)aafs p.K333fs NM_030979.2 NP_112241.2 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 333 RRM 4. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding p.F335fs*19(1) breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) TGGTCGCAGCAAAGGGTTTGG 0.428 8 808 --- --- --- --- ABCC4 10257 broad.mit.edu 37 13 95696016 95696016 + Frame_Shift_Del DEL T T - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr13:95696016delT ENST00000376887.4 - 29 3769 c.3655delA c.(3655-3657)tcfs p.I1219fs ABCC4_ENST00000412704.1_Frame_Shift_Del_p.I1172fs NM_005845.3 NP_005836.2 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 4 1219 ABC transporter 2. platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) TTCTCCCGGATTTTTTTTTGT 0.378 7 366 --- --- --- --- RP11-407N17.3 0 broad.mit.edu 37 14 39746242 39746243 + Frame_Shift_Ins INS - - T rs75842899 byFrequency TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr14:39746242_39746243insT ENST00000553728.1 + 6 1986_1987 c.1773_1774insT c.(1771-1776)ctttttfs p.LF591fs CTAGE5_ENST00000556148.1_Intron|CTAGE5_ENST00000557038.1_5'UTR|CTAGE5_ENST00000396165.4_Frame_Shift_Ins_p.LF27fs|RP11-407N17.3_ENST00000603904.1_Frame_Shift_Ins_p.LF27fs|CTAGE5_ENST00000348007.3_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000341749.3_Frame_Shift_Ins_p.LF44fs|CTAGE5_ENST00000341502.5_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000280083.3_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000396158.2_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000553352.1_Frame_Shift_Ins_p.LF27fs TTGCTGTTCTCTTTTTTTTGTG 0.371 8 307 --- --- --- --- DDX24 57062 broad.mit.edu 37 14 94545821 94545823 + In_Frame_Del DEL CCT CCT - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr14:94545821_94545823delCCT ENST00000330836.5 - 2 397_399 c.266_268delAGG c.(265-270)gga>g p.EG89del DDX24_ENST00000555054.1_In_Frame_Del_p.EG46del|DDX24_ENST00000544005.1_Intron NM_020414.3 NP_065147.1 Q9GZR7 DDX24_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 24 89 Poly-Glu. RNA metabolic process cytoplasm|nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1) 23 all_cancers(154;0.12) Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207) CTAGACTTTCCCTCCTCCTCCTC 0.443 8 621 --- --- --- --- HERC2P2 0 broad.mit.edu 37 15 23333801 23333802 + RNA INS - - A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr15:23333801_23333802insA ENST00000560464.1 - 0 908 ACTTACAGTTCAAAAAAAAAAA 0.441 11 74 --- --- --- --- SLC24A1 9187 broad.mit.edu 37 15 65943128 65943130 + In_Frame_Del DEL GAG GAG - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr15:65943128_65943130delGAG ENST00000261892.6 + 7 2928_2930 c.2641_2643delGAG c.(2641-2643)del p.E890del SLC24A1_ENST00000546330.1_In_Frame_Del_p.E872del|SLC24A1_ENST00000339868.6_In_Frame_Del_p.E872del|SLC24A1_ENST00000537259.1_In_Frame_Del_p.E872del|SLC24A1_ENST00000544319.2_In_Frame_Del_p.E776del|SLC24A1_ENST00000449142.2_3'UTR|SLC24A1_ENST00000399033.4_In_Frame_Del_p.E890del NM_001254740.1|NM_004727.2 NP_001241669.1|NP_004718.1 O60721 NCKX1_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 890 Poly-Glu. response to light intensity|visual perception integral to plasma membrane|membrane fraction|outer membrane calcium, potassium:sodium antiporter activity|protein binding|symporter activity breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 gcaggaggaagaggaggaggagg 0.562 7 162 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102299886 102299887 + RNA INS - - G TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr15:102299886_102299887insG ENST00000561463.1 + 0 7932_7933 AACCTGTACTCGCGTCGGAACC 0.589 13 40 --- --- --- --- IL32 9235 broad.mit.edu 37 16 3119304 3119305 + Frame_Shift_Ins INS - - G rs2981599 TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr16:3119304_3119305insG ENST00000525643.2 + 7 847_848 c.515_516insG c.(514-516)gaafs p.E172fs IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs P24001 IL32_HUMAN interleukin 32 218 cell adhesion|defense response|immune response extracellular space cytokine activity breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 15 CCACGGGGGGACAAGGAGGAGC 0.574 16 1138 --- --- --- --- CD2BP2 10421 broad.mit.edu 37 16 30365550 30365552 + In_Frame_Del DEL CAT CAT - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr16:30365550_30365552delCAT ENST00000305596.3 - 3 345_347 c.170_172delATG c.(169-174)ggg>g p.DG57del CD2BP2_ENST00000569466.1_In_Frame_Del_p.DG57del NM_006110.2 NP_006101.1 O95400 CD2B2_HUMAN CD2 (cytoplasmic tail) binding protein 2 57 assembly of spliceosomal tri-snRNP cytoplasm|nucleoplasm|U5 snRNP protein binding|ribonucleoprotein binding breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1) 15 CTGGACCCCCCATCATCATCATC 0.532 7 1606 --- --- --- --- ORAI3 93129 broad.mit.edu 37 16 30964972 30964974 + In_Frame_Del DEL GTG GTG - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr16:30964972_30964974delGTG ENST00000318663.4 + 2 919_921 c.695_697delGTG c.(694-699)tgt>t p.CG232del ORAI3_ENST00000562699.1_Intron|AC135048.13_ENST00000566056.1_RNA|ORAI3_ENST00000566237.1_In_Frame_Del_p.CG232del NM_152288.2 NP_689501.1 Q9BRQ5 ORAI3_HUMAN ORAI calcium release-activated calcium modulator 3 232 integral to membrane protein binding endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1) 6 CGGCAAGCCTGTGGTGGTGGTGG 0.645 OREG0023742 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 824 --- --- --- --- SLC9A5 6553 broad.mit.edu 37 16 67300017 67300019 + In_Frame_Del DEL GAG GAG - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr16:67300017_67300019delGAG ENST00000299798.11 + 15 2172_2174 c.2107_2109delGAG c.(2107-2109)del p.E708del NM_004594.2 NP_004585.1 Q14940 SL9A5_HUMAN solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5 708 regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) CGTGGAGTCTGAGGAGGAGGAGG 0.571 11 299 --- --- --- --- RANBP10 57610 broad.mit.edu 37 16 67763279 67763281 + In_Frame_Del DEL GAG GAG - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr16:67763279_67763281delGAG ENST00000317506.3 - 10 1369_1371 c.1254_1256delCTC c.(1252-1257)tcg>tc p.SS420del RANBP10_ENST00000602677.1_In_Frame_Del_p.SS420del|RANBP10_ENST00000448631.2_In_Frame_Del_p.SS364del|RANBP10_ENST00000536251.1_In_Frame_Del_p.SS191del|RANBP10_ENST00000411657.2_In_Frame_Del_p.SS303del NM_020850.1 NP_065901.1 Q6VN20 RBP10_HUMAN RAN binding protein 10 420 Ser-rich. p.S418S(2) endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1) 23 Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157) ggaagaggacgaggaggaggagg 0.567 7 204 --- --- --- --- ZFP90 146198 broad.mit.edu 37 16 68598462 68598463 + Frame_Shift_Ins INS - - A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr16:68598462_68598463insA ENST00000570495.1 + 5 2064_2065 c.1772_1773insA c.(1771-1773)caafs p.Q591fs RP11-615I2.7_ENST00000571720.1_RNA|ZFP90_ENST00000563169.2_Frame_Shift_Ins_p.Q591fs|ZFP90_ENST00000398253.2_Frame_Shift_Ins_p.Q591fs Q8TF47 ZFP90_HUMAN ZFP90 zinc finger protein 591 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 27 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946) AGAGCCTTCCGAAAAAAAACCA 0.411 7 894 --- --- --- --- CDH3 1001 broad.mit.edu 37 16 68718504 68718504 + Frame_Shift_Del DEL A A - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr16:68718504delA ENST00000264012.4 + 10 1745 c.1201delA c.(1201-1203)aafs p.K401fs CDH3_ENST00000429102.2_Frame_Shift_Del_p.K401fs|CDH3_ENST00000581171.1_Frame_Shift_Del_p.K346fs NM_001793.4 NP_001784.2 P22223 CADH3_HUMAN cadherin 3, type 1, P-cadherin (placental) 401 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception integral to membrane calcium ion binding p.?(2) NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1) 25 Ovarian(137;0.0564) OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384) TTTTGAGGCCAAAAACCAGCA 0.522 7 1573 --- --- --- --- FXR2 9513 broad.mit.edu 37 17 7495872 7495874 + In_Frame_Del DEL CGG CGG - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr17:7495872_7495874delCGG ENST00000250113.7 - 15 2107_2109 c.1773_1775delCCG c.(1771-1776)cgt>cg p.RR591del MPDU1_ENST00000423172.2_3'UTR NM_004860.3 NP_004851.2 P51116 FXR2_HUMAN fragile X mental retardation, autosomal homolog 2 591 Poly-Arg. R -> P (in dbSNP:rs36013555). cytosolic large ribosomal subunit protein binding|RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1) 26 READ - Rectum adenocarcinoma(115;0.17) ACCACGGTTACGGCGGCGGCGGC 0.547 8 1500 --- --- --- --- MED9 55090 broad.mit.edu 37 17 17394705 17394707 + In_Frame_Del DEL CAG CAG - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr17:17394705_17394707delCAG ENST00000268711.3 + 2 393_395 c.337_339delCAG c.(337-339)del p.Q117del NM_018019.2 NP_060489.1 Q9NWA0 MED9_HUMAN mediator complex subunit 9 117 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent protein binding cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 GAGCCCCGAACAGCAGCAGCAGC 0.581 7 622 --- --- --- --- TMEM97 27346 broad.mit.edu 37 17 26653806 26653807 + Frame_Shift_Ins INS - - A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr17:26653806_26653807insA ENST00000226230.6 + 3 663_664 c.518_519insA c.(517-519)aaafs p.K173fs TMEM97_ENST00000583381.1_Frame_Shift_Ins_p.K66fs|TMEM97_ENST00000336687.6_Frame_Shift_Ins_p.K66fs NM_014573.2 NP_055388.2 Q5BJF2 TMM97_HUMAN transmembrane protein 97 173 cholesterol homeostasis|regulation of cell growth integral to membrane|lysosome|nuclear membrane|plasma membrane|rough endoplasmic reticulum protein binding p.K176fs?(1) endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 6 all_lung(13;0.000238)|Lung NSC(42;0.000789) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) GAAGAGAAAAGAAAAAAAAAAT 0.441 13 263 --- --- --- --- RP11-798G7.5 0 broad.mit.edu 37 17 43596433 43596433 + RNA DEL T T - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr17:43596433delT ENST00000253803.2 + 0 267 TTTTTGCCGGTTTTGGCCTAC 0.478 11 3065 --- --- --- --- LRRC37A16P 0 broad.mit.edu 37 17 66141015 66141016 + RNA INS - - A TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr17:66141015_66141016insA ENST00000590019.1 - 0 70 CCAAGATTTCTACAAAAAAAAA 0.322 10 196 --- --- --- --- ROCK1P1 0 broad.mit.edu 37 18 112482 112482 + RNA DEL C C - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr18:112482delC ENST00000576266.1 + 0 116 AGGGGTGCTTCCAGCGAGGCG 0.622 10 129 --- --- --- --- ROCK1P1 0 broad.mit.edu 37 18 112519 112520 + RNA INS - - A rs140158594 by1000genomes TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr18:112519_112520insA ENST00000576266.1 + 0 153_154 CCAGCTCCCCCGGGGCCTCCGT 0.530 7 97 --- --- --- --- SOGA2 23255 broad.mit.edu 37 18 8793004 8793004 + Frame_Shift_Del DEL C C - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr18:8793004delC ENST00000359865.3 + 8 2038 c.1896delC c.(1894-1896)ggfs p.G632fs SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000517570.1_Intron|SOGA2_ENST00000400050.3_Intron|SOGA2_ENST00000306329.11_Intron|SOGA2_ENST00000518815.1_Intron NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 980 AGCTCAGGGGCCCCCCCGTTT 0.552 9 1010 --- --- --- --- GTF2F1 2962 broad.mit.edu 37 19 6381791 6381793 + In_Frame_Del DEL CTT CTT - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr19:6381791_6381793delCTT ENST00000394456.5 - 7 1215_1217 c.751_753delAAG c.(751-753)del p.K251del GTF2F1_ENST00000429701.2_In_Frame_Del_p.K166del NM_002096.2 NP_002087.2 P35269 T2FA_HUMAN general transcription factor IIF, polypeptide 1, 74kDa 251 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cell junction|transcription factor TFIIF complex catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4) 16 CGTCTGAACCCTTCTTCTTCTTC 0.611 8 286 --- --- --- --- SNAPC2 6618 broad.mit.edu 37 19 7987519 7987519 + Frame_Shift_Del DEL C C - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr19:7987519delC ENST00000221573.6 + 5 926 c.875delC c.(874-876)acfs p.T292fs SNAPC2_ENST00000597584.1_Frame_Shift_Del_p.T55fs NM_003083.3 NP_003074.1 Q13487 SNPC2_HUMAN small nuclear RNA activating complex, polypeptide 2, 45kDa 292 snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleoplasm sequence-specific DNA binding transcription factor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1) 6 CCAGAGGAGACCCCCCCAGCC 0.662 7 473 --- --- --- --- DNMT1 1786 broad.mit.edu 37 19 10262139 10262139 + Frame_Shift_Del DEL T T - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr19:10262139delT ENST00000340748.4 - 23 2387 c.2152delA c.(2152-2154)tgfs p.M718fs DNMT1_ENST00000540357.1_Frame_Shift_Del_p.M718fs|DNMT1_ENST00000359526.4_Frame_Shift_Del_p.M734fs P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 718 chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) CCCTGGTGCATTTTTTTGGGT 0.507 7 909 --- --- --- --- CHERP 10523 broad.mit.edu 37 19 16640581 16640583 + In_Frame_Del DEL TGC TGC - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr19:16640581_16640583delTGC ENST00000546361.2 - 8 1156_1158 c.1005_1007delGCA c.(1003-1008)caa>ca p.QQ339del CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_In_Frame_Del_p.QQ350del NM_006387.5 NP_006378.3 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum protein 339 Gln-rich. cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3) 24 ctgctgctgttgctgctgctgct 0.670 8 222 --- --- --- --- CTC-260E6.6 0 broad.mit.edu 37 19 20243404 20243405 + RNA DEL AC AC - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr19:20243404_20243405delAC ENST00000590606.1 - 0 188 CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA TCCCTGGAAAACACACACACAC 0.411 30 387 --- --- --- --- HAMP 57817 broad.mit.edu 37 19 35773520 35773522 + In_Frame_Del DEL CTC CTC - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr19:35773520_35773522delCTC ENST00000598398.1 + 2 336_338 c.40_42delCTC c.(40-42)del p.L18del HAMP_ENST00000222304.3_In_Frame_Del_p.L18del NM_021175.2 NP_066998.1 P81172 HEPC_HUMAN hepcidin antimicrobial peptide 18 defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism extracellular region hormone activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1) 4 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) TTGCCTCCTGCTCCTCCTCCTCC 0.640 14 1040 --- --- --- --- ZC3H4 23211 broad.mit.edu 37 19 47572401 47572403 + In_Frame_Del DEL CTC CTC - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr19:47572401_47572403delCTC ENST00000253048.5 - 14 2381_2383 c.2344_2346delGAG c.(2344-2346)del p.E782del ZC3H4_ENST00000594019.1_Intron NM_015168.1 NP_055983.1 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 782 nucleic acid binding|zinc ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 41 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) TCCTCGCTCTCTCCTCCTCCTCC 0.700 7 753 --- --- --- --- ALDH16A1 126133 broad.mit.edu 37 19 49967177 49967177 + Frame_Shift_Del DEL C C - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr19:49967177delC ENST00000293350.4 + 9 1328 c.1165delC c.(1165-1167)ccfs p.P390fs ALDH16A1_ENST00000433981.2_Frame_Shift_Del_p.P225fs|ALDH16A1_ENST00000540132.1_Frame_Shift_Del_p.P227fs|ALDH16A1_ENST00000455361.2_Frame_Shift_Del_p.P339fs|CTD-3148I10.9_ENST00000599536.1_Frame_Shift_Del_p.A24fs NM_153329.3 NP_699160.2 Q8IZ83 A16A1_HUMAN aldehyde dehydrogenase 16 family, member A1 390 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) CTCCAACCTGCCCCCAGCCTC 0.602 8 1349 --- --- --- --- NUP62 23636 broad.mit.edu 37 19 50412206 50412208 + In_Frame_Del DEL TGC TGC - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr19:50412206_50412208delTGC ENST00000596217.1 - 2 2744_2746 c.857_859delGCA c.(856-861)acc>a p.ST286del IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000422090.2_In_Frame_Del_p.ST286del|NUP62_ENST00000597723.1_Intron|NUP62_ENST00000413454.1_In_Frame_Del_p.ST286del|NUP62_ENST00000597029.1_In_Frame_Del_p.ST286del|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000352066.3_In_Frame_Del_p.ST286del P37198 NUP62_HUMAN nucleoporin 62kDa 286 15 X 9 AA approximate repeats.|Ala-rich.|Thr-rich. carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2) 19 all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) AAGCCggtggtgctgctgctgct 0.635 7 331 --- --- --- --- LILRB2 0 broad.mit.edu 37 19 54780707 54780709 + In_Frame_Del DEL GAG GAG - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr19:54780707_54780709delGAG ENST00000391748.1 - 10 1559_1561 c.1432_1434delCTC c.(1432-1434)del p.L478del LILRB2_ENST00000391749.4_In_Frame_Del_p.L479del|LILRB2_ENST00000314446.5_In_Frame_Del_p.L478del|LILRB2_ENST00000434421.1_In_Frame_Del_p.L363del|LILRB2_ENST00000391746.1_In_Frame_Del_p.L479del NM_001278403.1 NP_001265332.1 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 479 cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity p.L479L(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 44 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) ggatgaggaagaggaggaggagg 0.611 10 603 --- --- --- --- ZHX3 23051 broad.mit.edu 37 20 39830891 39830891 + Frame_Shift_Del DEL T T - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr20:39830891delT ENST00000309060.3 - 4 3081 c.2666delA c.(2665-2667)ggfs p.E890fs ZHX3_ENST00000544979.2_Intron|ZHX3_ENST00000540170.1_Frame_Shift_Del_p.E890fs|ZHX3_ENST00000560361.1_Frame_Shift_Del_p.E890fs|ZHX3_ENST00000559234.1_Frame_Shift_Del_p.E890fs|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000432768.2_Frame_Shift_Del_p.E890fs Q9H4I2 ZHX3_HUMAN zinc fingers and homeoboxes 3 890 negative regulation of transcription, DNA-dependent cytoplasm|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 Myeloproliferative disorder(115;0.00425) TCTGGTCTCCTCCCCCATTTT 0.552 7 1387 --- --- --- --- KCNB1 3745 broad.mit.edu 37 20 47989891 47989891 + Frame_Shift_Del DEL G G - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr20:47989891delG ENST00000371741.4 - 2 2372 c.2206delC c.(2206-2208)ggfs p.R736fs NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 736 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) TCAGGAGACCGGGGGGGTGTC 0.562 8 557 --- --- --- --- ZNF831 128611 broad.mit.edu 37 20 57766219 57766220 + Frame_Shift_Ins INS - - C TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr20:57766219_57766220insC ENST00000371030.2 + 1 145_146 c.145_146insC c.(145-147)cccfs p.P49fs NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 49 Pro-rich. intracellular nucleic acid binding|zinc ion binding p.T52fs*47(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) GCAGGGCCTGGCCCCCCCCACT 0.728 7 284 --- --- --- --- LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661172 22661173 + RNA INS - - C rs7410785 TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr22:22661172_22661173insC ENST00000426066.1 + 0 264_265 NR_027293.1 CATACAGGTTTTCCCCCCCCAC 0.411 8 203 --- --- --- --- DDX17 10521 broad.mit.edu 37 22 38881965 38881967 + In_Frame_Del DEL GGA GGA - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr22:38881965_38881967delGGA ENST00000396821.3 - 13 2268_2270 c.2169_2171delTCC c.(2167-2172)ccc>cc p.PP727del DDX17_ENST00000444597.1_In_Frame_Del_p.PP177del|DDX17_ENST00000381633.3_In_Frame_Del_p.PP648del NM_001098504.1|NM_006386.4 NP_001091974.1|NP_006377.2 Q92841 DDX17_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 17 646 RNA processing nucleus ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 25 Melanoma(58;0.0286) aggaggagggggaggaggaggag 0.478 7 462 --- --- --- --- MKL1 57591 broad.mit.edu 37 22 40816887 40816889 + In_Frame_Del DEL TGC TGC - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr22:40816887_40816889delTGC ENST00000396617.3 - 10 1433_1435 c.843_845delGCA c.(841-846)cac>ca p.QH281del MKL1_ENST00000355630.3_In_Frame_Del_p.QH281del|MKL1_ENST00000402042.1_In_Frame_Del_p.QH231del|MKL1_ENST00000407029.1_In_Frame_Del_p.QH281del Q969V6 MKL1_HUMAN megakaryoblastic leukemia (translocation) 1 281 Gln-rich. positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent cytoplasm|nucleus actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 30 GTAGTTGTGGTGCTGCTGCTGCT 0.660 T RBM15 acute megakaryocytic leukemia 10 306 --- --- --- --- RANGAP1 5905 broad.mit.edu 37 22 41650469 41650471 + In_Frame_Del DEL TCC TCC - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr22:41650469_41650471delTCC ENST00000455915.2 - 10 2570_2572 c.1101_1103delGGA c.(1099-1104)gaa>ga p.EE367del RANGAP1_ENST00000407260.4_In_Frame_Del_p.EE312del|RANGAP1_ENST00000405486.1_In_Frame_Del_p.EE367del|RANGAP1_ENST00000356244.3_In_Frame_Del_p.EE367del P46060 RAGP1_HUMAN Ran GTPase activating protein 1 367 Asp/Glu-rich (highly acidic). mitotic prometaphase|signal transduction condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole protein binding|Ran GTPase activator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 ctcttctccttcctcctcctcct 0.562 23 553 --- --- --- --- ZC3H7B 23264 broad.mit.edu 37 22 41753399 41753401 + In_Frame_Del DEL CTG CTG - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr22:41753399_41753401delCTG ENST00000352645.4 + 23 3157_3159 c.2900_2902delCTG c.(2899-2904)cct>c p.PA967del ZC3H7B_ENST00000351589.4_In_Frame_Del_p.PA967del NM_017590.4 NP_060060.3 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 983 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 CCAGAAGCCCCTGCTGCTGCTGC 0.650 7 984 --- --- --- --- BIK 638 broad.mit.edu 37 22 43525245 43525247 + In_Frame_Del DEL GCT GCT - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr22:43525245_43525247delGCT ENST00000216115.2 + 5 480_482 c.417_419delGCT c.(415-420)gcg>gc p.AL139del NM_001197.4 NP_001188.1 Q13323 BIK_HUMAN BCL2-interacting killer (apoptosis-inducing) 139 Leucine-zipper (Potential). apoptosis|induction of apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria endomembrane system|integral to membrane breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1) 5 Ovarian(80;0.0694) tgctgctggcgctgctgctgctg 0.724 10 457 --- --- --- --- MLC1 23209 broad.mit.edu 37 22 50502593 50502595 + In_Frame_Del DEL AGC AGC - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chr22:50502593_50502595delAGC ENST00000311597.5 - 11 1533_1535 c.927_929delGCT c.(925-930)cta>ct p.LL309del MLC1_ENST00000538737.1_In_Frame_Del_p.LL275del|MLC1_ENST00000395876.2_In_Frame_Del_p.LL309del|MLC1_ENST00000450140.2_In_Frame_Del_p.LL257del|MLC1_ENST00000431262.2_In_Frame_Del_p.LL279del|MLC1_ENST00000535444.1_In_Frame_Del_p.LL230del|MLC1_ENST00000483836.1_5'UTR NM_015166.3 NP_055981.1 Q15049 MLC1_HUMAN megalencephalic leukoencephalopathy with subcortical cysts 1 309 L -> M (in a pedigree affected by schizophrenia). basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction ion channel activity endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3) 18 all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113) READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216) caggagcactagcagcagcagca 0.655 7 186 --- --- --- --- GAGE2D 729408 broad.mit.edu 37 X 49208295 49208296 + In_Frame_Ins INS - - TAT TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chrX:49208295_49208296insTAT ENST00000404720.2 + 2 96_97 c.24_25insTAT c.(22-27)acatcg>acTATatcg p.8_9TS>TIS NM_001098407.1|NM_012196.1 NP_001091877.1|NP_036328.1 G antigen 2D GAAGATCGACCTATCGGCCTAG 0.465 15 76 --- --- --- --- GSPT2 23708 broad.mit.edu 37 X 51486733 51486735 + In_Frame_Del DEL GCA GCA - rs17853537 TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chrX:51486733_51486735delGCA ENST00000340438.4 + 1 253_255 c.11_13delGCA c.(10-15)ggc>g p.GS4del NM_018094.4 NP_060564.2 Q8IYD1 ERF3B_HUMAN G1 to S phase transition 2 4 cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination cytoplasm GTP binding|GTPase activity|protein binding breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 20 Ovarian(276;0.236) ATGGATTCGGGCAGCAGCAGCAG 0.680 7 352 --- --- --- --- ARMCX3 51566 broad.mit.edu 37 X 100880152 100880154 + In_Frame_Del DEL TGA TGA - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chrX:100880152_100880154delTGA ENST00000341189.4 + 5 1049_1051 c.183_185delTGA c.(181-186)tct>tc p.SD61del ARMCX3_ENST00000537169.1_In_Frame_Del_p.SD61del|ARMCX3_ENST00000471229.2_In_Frame_Del_p.SD61del NM_016607.3 NP_057691.1 Q9UH62 ARMX3_HUMAN armadillo repeat containing, X-linked 3 61 integral to membrane binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2) 11 ATGACTGGTCTGATGATGATGAT 0.517 10 1043 --- --- --- --- GUCY2F 2986 broad.mit.edu 37 X 108619355 108619355 + Frame_Shift_Del DEL T T - TCGA-IB-A5SQ-01A-11D-A32N-08 TCGA-IB-A5SQ-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx be12fc83-9cc8-46c6-a210-1fd4e3410bb4 c2c7839f-87cb-4d5f-8089-7b0174efccd9 g.chrX:108619355delT ENST00000218006.2 - 18 3483 c.3192delA c.(3190-3192)aafs p.K1064fs NM_001522.2 NP_001513.2 P51841 GUC2F_HUMAN guanylate cyclase 2F, retinal 1064 intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1) 67 TCATGAAGCCTTTTTTCCCAA 0.418 9 1137 --- --- --- ---