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 ZZEF1 23140 broad.mit.edu 37 17 3999943 3999943 + Missense_Mutation SNP C C T TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr17:3999943C>T ENST00000381638.2 - 10 1848 c.1724G>A c.(1723-1725)gGa>gAa p.G575E ZZEF1_ENST00000574474.1_5'UTR NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 575 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 AGATTCAGTTCCGGTAGAAAA 0.358000 26 128 0 0 1 0 0 EIF3A 8661 broad.mit.edu 37 10 120829139 120829139 + Missense_Mutation SNP G G A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr10:120829139G>A ENST00000369144.3 - 6 896 c.769C>T c.(769-771)Cac>Tac p.H257Y EIF3A_ENST00000541549.1_Missense_Mutation_p.H223Y|EIF3A_ENST00000478852.1_Intron NM_003750.2 NP_003741.1 Q14152 EIF3A_HUMAN eukaryotic translation initiation factor 3, subunit A 257 formation of translation initiation complex cytosol|eukaryotic translation initiation factor 3 complex protein binding|structural molecule activity|translation initiation factor activity endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3) 56 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0236) AATAGCCCGTGAATATCTTCC 0.323000 21 70 0 0 1 0 0 SWAP70 23075 broad.mit.edu 37 11 9750958 9750958 + Silent SNP C C T TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr11:9750958C>T ENST00000318950.6 + 6 961 c.858C>T c.(856-858)atC>atT p.I286I SWAP70_ENST00000447399.2_Silent_p.I228I NM_015055.2 NP_055870.2 Q9UH65 SWP70_HUMAN SWAP switching B-cell complex 70kDa subunit 286 PH. cytoplasm|lamellipodium|nucleus|plasma membrane calcium ion binding|DNA binding NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1) 11 all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649) CTTTTGAAATCAGTGCTTCAG 0.318000 5 39 0 0 1 0 0 DNAJB6 10049 broad.mit.edu 37 7 157177596 157177596 + Missense_Mutation SNP C C A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr7:157177596C>A ENST00000262177.4 + 7 719 c.514C>A c.(514-516)Ctc>Atc p.L172I DNAJB6_ENST00000452797.2_Missense_Mutation_p.L123I|DNAJB6_ENST00000429029.2_Missense_Mutation_p.L172I|DNAJB6_ENST00000443280.1_Intron NM_058246.3 NP_490647.1 O75190 DNJB6_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 6 172 Gly/Phe-rich.|Interaction with KRT18. intermediate filament organization|negative regulation of caspase activity|protein folding|response to unfolded protein nucleus|perinuclear region of cytoplasm ATPase activator activity|chaperone binding|heat shock protein binding|unfolded protein binding central_nervous_system(1)|lung(1)|ovary(2)|stomach(1) 5 all_neural(206;0.181) all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196) OV - Ovarian serous cystadenocarcinoma(82;0.00399) UCEC - Uterine corpus endometrioid carcinoma (81;0.172) TCACGGGGGCCTCACTTCATT 0.388000 25 90 1.33986e-20 1.45926e-20 1 1 0 VMP1 81671 broad.mit.edu 37 17 57917153 57917153 + Missense_Mutation SNP T T C TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr17:57917153T>C ENST00000262291.4 + 12 1412 c.1102T>C c.(1102-1104)Ttt>Ctt p.F368L VMP1_ENST00000537567.1_Missense_Mutation_p.F234L|VMP1_ENST00000539763.1_Missense_Mutation_p.F176L|VMP1_ENST00000545362.1_Missense_Mutation_p.F312L|VMP1_ENST00000536180.1_Missense_Mutation_p.F271L|VMP1_ENST00000588617.1_3'UTR NM_030938.3 NP_112200.2 Q96GC9 VMP1_HUMAN vacuole membrane protein 1 368 autophagy|cell adhesion endoplasmic reticulum|ER-Golgi intermediate compartment membrane|integral to membrane|plasma membrane|vacuolar membrane breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2) 16 GTCCTGGATGTTTGAAAAGTT 0.383000 45 212 0 0 1 0 0 NISCH 11188 broad.mit.edu 37 3 52524200 52524200 + Missense_Mutation SNP T T C TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr3:52524200T>C ENST00000345716.4 + 18 3700 c.3566T>C c.(3565-3567)tTt>tCt p.F1189S NISCH_ENST00000479054.1_Missense_Mutation_p.F1189S NM_007184.3 NP_009115.2 Q9Y2I1 NISCH_HUMAN nischarin 1189 apoptosis|cell communication cytosol|early endosome|plasma membrane|recycling endosome phosphatidylinositol binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 33 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) GCTGTGTACTTTGTGCTCCAC 0.637000 4 66 0 0 1 0 0 CTSC 1075 broad.mit.edu 37 11 88061298 88061298 + Missense_Mutation SNP G G A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr11:88061298G>A ENST00000524463.1 - 3 473 c.385C>T c.(385-387)Cat>Tat p.H129Y CTSC_ENST00000529974.1_Missense_Mutation_p.H129Y|CTSC_ENST00000227266.5_Intron|CTSC_ENST00000393301.4_5'UTR NM_001114173.1|NM_148170.3 NP_001107645.1|NP_680475.1 P53634 CATC_HUMAN cathepsin C 0 V -> E (in PLS). immune response lysosome cysteine-type endopeptidase activity large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2) 22 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) TTCCTCAGATGTGGCAAATCA 0.378000 16 47 0 0 1 0 0 UFSP2 55325 broad.mit.edu 37 4 186343657 186343657 + Missense_Mutation SNP G G C TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr4:186343657G>C ENST00000264689.6 - 2 180 c.64C>G c.(64-66)Cag>Gag p.Q22E UFSP2_ENST00000502282.1_5'UTR NM_018359.3 NP_060829.2 Q9NUQ7 UFSP2_HUMAN UFM1-specific peptidase 2 22 endoplasmic reticulum|nucleus small conjugating protein-specific protease activity endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166) GTAGCTAGCTGAAAAGCCAAA 0.318000 8 34 0 0 1 0 0 KRT16P6 353194 broad.mit.edu 37 17 16722211 16722211 + RNA SNP G G A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr17:16722211G>A ENST00000417510.1 - 0 1519 GTGGGGCCGTGAGAGTGCCAT 0.602000 6 52 0 0 1 0 0 EIF5A 1984 broad.mit.edu 37 17 7214726 7214726 + Missense_Mutation SNP G G A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr17:7214726G>A ENST00000336458.8 + 4 729 c.328G>A c.(328-330)Gag>Aag p.E110K EIF5A_ENST00000573542.1_Missense_Mutation_p.E110K|EIF5A_ENST00000571955.1_Missense_Mutation_p.E110K|EIF5A_ENST00000416016.2_Missense_Mutation_p.E110K|GPS2_ENST00000391950.3_3'UTR|EIF5A_ENST00000576930.1_Missense_Mutation_p.E110K|EIF5A_ENST00000572815.1_Missense_Mutation_p.E110K|EIF5A_ENST00000336452.7_Missense_Mutation_p.E140K|EIF5A_ENST00000419711.2_Missense_Mutation_p.E110K NM_001970.4 NP_001961.1 P63241 IF5A1_HUMAN eukaryotic translation initiation factor 5A 110 induction of apoptosis|mRNA export from nucleus|peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein export from nucleus|translational frameshifting|transmembrane transport annulate lamellae|cytosol|endoplasmic reticulum membrane|nuclear pore protein N-terminus binding|ribosome binding|translation elongation factor activity|U6 snRNA binding endometrium(2)|kidney(1)|large_intestine(2)|urinary_tract(1) 6 GGAGGTACGAGAGGACCTTCG 0.582000 23 67 0 0 1 0 0 DCLRE1C 64421 broad.mit.edu 37 10 14976739 14976739 + Missense_Mutation SNP G G A rs149556109 TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr10:14976739G>A ENST00000453695.2 - 7 584 c.140C>T c.(139-141)aCg>aTg p.T47M DCLRE1C_ENST00000378289.4_Missense_Mutation_p.T167M|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.T47M|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.T47M|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.T47M|DCLRE1C_ENST00000378278.2_Missense_Mutation_p.T167M|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.T52M|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.T47M|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.T52M|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.T52M NM_001033855.1 NP_001029027.1 Q96SD1 DCR1C_HUMAN DNA cross-link repair 1C 167 DNA recombination nucleus 5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1) 17 ATCACAGAACGTAGTATCCAA 0.363000 Non-homologous end-joining 22 117 0 0 1 0 0 NFAT5 10725 broad.mit.edu 37 16 69727005 69727005 + Missense_Mutation SNP C C G TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr16:69727005C>G ENST00000349945.1 + 14 4547 c.2995C>G c.(2995-2997)Caa>Gaa p.Q999E NFAT5_ENST00000567239.1_Missense_Mutation_p.Q1092E|NFAT5_ENST00000354436.2_Missense_Mutation_p.Q1075E|NFAT5_ENST00000393742.2_Missense_Mutation_p.Q999E|NFAT5_ENST00000432919.1_Missense_Mutation_p.Q1093E|NFAT5_ENST00000566899.1_Missense_Mutation_p.Q999E NM_138714.3 NP_619728.2 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5, tonicity-responsive 1075 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 TTTTCATCCTCAAAATCCTAT 0.418000 34 129 0 0 1 0 0 PCDH9 5101 broad.mit.edu 37 13 67801352 67801352 + Silent SNP G G A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr13:67801352G>A ENST00000544246.1 - 2 1912 c.1221C>T c.(1219-1221)gtC>gtT p.V407V PCDH9_ENST00000456367.1_Silent_p.V407V|PCDH9_ENST00000377865.2_Silent_p.V407V|PCDH9_ENST00000328454.5_Silent_p.V407V|PCDH9_ENST00000377861.3_Silent_p.V407V NM_203487.2 NP_982354.1 Q9HC56 PCDH9_HUMAN protocadherin 9 407 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) AATGAAATGGGACCTCTCTTT 0.373000 19 84 0 0 1 0 0 DSG1 1828 broad.mit.edu 37 18 28908287 28908287 + Missense_Mutation SNP G G A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr18:28908287G>A ENST00000257192.4 + 4 564 c.352G>A c.(352-354)Gag>Aag p.E118K NM_001942.2 NP_001933.2 Q02413 DSG1_HUMAN desmoglein 1 118 Cadherin 1. calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) AGTTGATCGAGAGGTCACTCC 0.343000 5 49 0 0 1 0 0 CECR2 27443 broad.mit.edu 37 22 18018385 18018385 + Missense_Mutation SNP G G A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr22:18018385G>A ENST00000262608.8 + 11 1270 c.1270G>A c.(1270-1272)Gaa>Aaa p.E424K CECR2_ENST00000342247.5_Missense_Mutation_p.E395K|CECR2_ENST00000400573.4_Missense_Mutation_p.E423K|CECR2_ENST00000400585.2_Missense_Mutation_p.E282K NM_031413.3 NP_113601.2 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 465 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 59 all_epithelial(15;0.139) Lung(27;0.146) ACCTGTGGATGAATCTTATGC 0.403000 21 53 0 0 1 0 0 TECPR2 9895 broad.mit.edu 37 14 102901162 102901162 + Missense_Mutation SNP G G A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr14:102901162G>A ENST00000359520.7 + 9 2234 c.2008G>A c.(2008-2010)Gat>Aat p.D670N TECPR2_ENST00000558678.1_Missense_Mutation_p.D670N NM_014844.3 NP_055659.2 O15040 TCPR2_HUMAN tectonin beta-propeller repeat containing 2 670 protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 50 GACCAGAGCTGATGAAGGCAG 0.587000 10 42 0 0 1 0 0 GREB1 9687 broad.mit.edu 37 2 11770226 11770226 + Silent SNP G G C TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr2:11770226G>C ENST00000381486.2 + 26 4902 c.4602G>C c.(4600-4602)gtG>gtC p.V1534V GREB1_ENST00000234142.5_Silent_p.V1534V|GREB1_ENST00000396123.1_Silent_p.V532V NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 1534 integral to membrane breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) TACCCCTCGTGACAGACAAGG 0.567000 7 31 0 0 1 0 0 KRTAP10-10 353333 broad.mit.edu 37 21 46057392 46057392 + Missense_Mutation SNP G G A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr21:46057392G>A ENST00000380095.1 + 1 120 c.58G>A c.(58-60)Gtc>Atc p.V20I TSPEAR_ENST00000323084.4_Intron NM_181688.1 NP_859016.1 P60014 KR10A_HUMAN keratin associated protein 10-10 20 V -> D (in dbSNP:rs2838602). keratin filament NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2) 13 TTGGCGGGTAGTCGACTGCCC 0.667000 36 123 0 0 1 0 0 GRIA1 2890 broad.mit.edu 37 5 153026494 153026494 + Missense_Mutation SNP C C A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr5:153026494C>A ENST00000285900.5 + 3 570 c.227C>A c.(226-228)tCc>tAc p.S76Y GRIA1_ENST00000518142.1_Intron|GRIA1_ENST00000340592.5_Missense_Mutation_p.S76Y|GRIA1_ENST00000518783.1_Missense_Mutation_p.S86Y|GRIA1_ENST00000521843.2_Missense_Mutation_p.S7Y|GRIA1_ENST00000448073.4_Missense_Mutation_p.S86Y|GRIA1_ENST00000518862.1_3'UTR NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 76 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) GTAGTCTGTTCCCAGTTCTCC 0.443000 23 108 1.1804e-14 1.27298e-14 1 1 0 WWC1 23286 broad.mit.edu 37 5 167855066 167855066 + Silent SNP G G C TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr5:167855066G>C ENST00000265293.4 + 12 2341 c.1839G>C c.(1837-1839)ctG>ctC p.L613L WWC1_ENST00000521089.1_Silent_p.L613L NM_001161661.1|NM_001161662.1|NM_015238.2 NP_001155133.1|NP_001155134.1|NP_056053.1 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 613 cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4) 43 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) GGTGTGGCCTGAAAGTGGCCT 0.562000 12 31 0 0 1 0 0 TEKT3 64518 broad.mit.edu 37 17 15217438 15217438 + Missense_Mutation SNP C C T TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr17:15217438C>T ENST00000395930.1 - 6 1030 c.844G>A c.(844-846)Ggc>Agc p.G282S TEKT3_ENST00000338696.2_Missense_Mutation_p.G282S NM_031898.2 NP_114104.1 Q9BXF9 TEKT3_HUMAN tektin 3 282 G -> A (in dbSNP:rs230898). microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 23 UCEC - Uterine corpus endometrioid carcinoma (92;0.0877) CGGAAGTAGCCGACACCGTCT 0.542000 13 47 0 0 1 0 0 MYH9 4627 broad.mit.edu 37 22 36745144 36745144 + Silent SNP G G C TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr22:36745144G>C ENST00000216181.5 - 2 368 c.138C>G c.(136-138)ctC>ctG p.L46L MYH9_ENST00000401701.1_Silent_p.L46L NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 46 Myosin head-like. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 CCTCCTCCTTGAGGCTGGCTG 0.557000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 11 52 0 0 1 0 0 ZAP70 7535 broad.mit.edu 37 2 98351029 98351029 + Silent SNP G G T TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr2:98351029G>T ENST00000264972.5 + 9 1151 c.936G>T c.(934-936)acG>acT p.T312T ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_Silent_p.T5T|ZAP70_ENST00000442208.1_Silent_p.T186T NM_001079.3 NP_001070.2 P43403 ZAP70_HUMAN zeta-chain (TCR) associated protein kinase 70kDa 312 Interdomain B. immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway cytosol|T cell receptor complex ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 29 CCATGGACACGAGCGTGTATG 0.592000 10 61 7.48243e-07 7.80158e-07 1 1 0 TMEM242 729515 broad.mit.edu 37 6 157744500 157744500 + Missense_Mutation SNP G G C TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr6:157744500G>C ENST00000367144.3 - 1 133 c.32C>G c.(31-33)cCg>cGg p.P11R Q9NWH2 CF035_HUMAN transmembrane protein 242 11 integral to membrane CCCAGAGGCCGGCTGCCCAGT 0.637000 35 166 0 0 1 0 0 MAP3K12 7786 broad.mit.edu 37 12 53876955 53876955 + Silent SNP C C T TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr12:53876955C>T ENST00000267079.2 - 12 1758 c.1533G>A c.(1531-1533)acG>acA p.T511T MAP3K12_ENST00000547035.1_Silent_p.T544T|MAP3K12_ENST00000547488.1_Silent_p.T544T NM_001193511.1|NM_006301.3 NP_001180440.1|NP_006292.3 Q12852 M3K12_HUMAN mitogen-activated protein kinase kinase kinase 12 511 T -> A (in Ref. 1; AAA67343). histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation cytosol|membrane fraction|plasma membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 37 GCAAAGACTCCGTCTTGAGGA 0.527000 10 74 0 0 1 0 0 TMEM168 64418 broad.mit.edu 37 7 112407306 112407306 + Nonsense_Mutation SNP C C T TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr7:112407306C>T ENST00000312814.5 - 5 2600 c.2040G>A c.(2038-2040)tgG>tgA p.W680* TMEM168_ENST00000454074.1_Nonsense_Mutation_p.W680* NM_022484.4 NP_071929.3 Q9H0V1 TM168_HUMAN transmembrane protein 168 680 integral to membrane|transport vesicle breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1) 32 TAGGAAGAAACCAACTCATTT 0.388000 8 55 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9076139 9076139 + Silent SNP G G A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr19:9076139G>A ENST00000397910.4 - 3 11510 c.11307C>T c.(11305-11307)atC>atT p.I3769I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3770 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TAGCTGGGCTGATCATGGTTT 0.527000 28 113 0 0 1 0 0 GABRD 2563 broad.mit.edu 37 1 1956400 1956400 + Missense_Mutation SNP G G A rs74786356 TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr1:1956400G>A ENST00000378585.4 + 2 171 c.88G>A c.(88-90)Gac>Aac p.D30N NM_000815.4 NP_000806.2 O14764 GBRD_HUMAN gamma-aminobutyric acid (GABA) A receptor, delta 30 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2) 20 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2) TGACATCGGCGACTACGTGGG 0.612000 11 56 0 0 1 0 0 FXR2 9513 broad.mit.edu 37 17 7504747 7504747 + Missense_Mutation SNP C C T TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr17:7504747C>T ENST00000250113.7 - 7 974 c.640G>A c.(640-642)Gaa>Aaa p.E214K NM_004860.3 NP_004851.2 P51116 FXR2_HUMAN fragile X mental retardation, autosomal homolog 2 214 cytosolic large ribosomal subunit protein binding|RNA binding p.?(1) NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1) 26 READ - Rectum adenocarcinoma(115;0.17) TTGGTAGCTTCTTCATTGCGG 0.502000 45 153 0 0 1 0 0 AKAP17A 8227 broad.mit.edu 37 X 1712436 1712436 + Silent SNP C C T TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chrX:1712436C>T ENST00000313871.3 + 2 277 c.81C>T c.(79-81)atC>atT p.I27I AKAP17A_ENST00000381261.3_Silent_p.I27I NM_005088.2 NP_005079.2 Q02040 AK17A_HUMAN A kinase (PRKA) anchor protein 17A 27 B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction nuclear speck|spliceosomal complex nucleotide binding|protein binding|RNA binding breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3) 26 TGAAGCCCATCACCAAGATGA 0.622000 38 150 0 0 1 0 0 MGRN1 23295 broad.mit.edu 37 16 4715153 4715153 + Splice_Site SNP G G T TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr16:4715153G>T ENST00000399577.5 + 7 771 c.e7+1 MGRN1_ENST00000415496.1_Splice_Site|MGRN1_ENST00000262370.7_Splice_Site|MGRN1_ENST00000586183.1_Splice_Site|MGRN1_ENST00000588994.1_Splice_Site NM_001142290.2 NP_001135762.1 O60291 MGRN1_HUMAN mahogunin ring finger 1, E3 ubiquitin protein ligase endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination cytosol|early endosome|nucleus|plasma membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 CTTTGAAAAGGTAAGTGCCAT 0.647000 9 31 1.58986e-06 1.64211e-06 1 1 0 SYNJ2 8871 broad.mit.edu 37 6 158510943 158510943 + Nonsense_Mutation SNP G G T TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr6:158510943G>T ENST00000355585.4 + 25 3604 c.3529G>T c.(3529-3531)Gaa>Taa p.E1177* SYNJ2_ENST00000367121.3_Nonsense_Mutation_p.E1177*|SYNJ2_ENST00000367122.2_Nonsense_Mutation_p.E1132*|SYNJ2_ENST00000367112.1_Nonsense_Mutation_p.E262* NM_001178088.1|NM_003898.3 NP_001171559.1|NP_003889.1 O15056 SYNJ2_HUMAN synaptojanin 2 1177 nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) CCAGGAGGCAGAAGCAGCAAT 0.493000 10 25 6.40141e-05 6.51996e-05 1 1 0 DDX46 9879 broad.mit.edu 37 5 134099644 134099644 + Missense_Mutation SNP G G C TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr5:134099644G>C ENST00000452510.2 + 2 226 c.68G>C c.(67-69)aGa>aCa p.R23T DDX46_ENST00000354283.4_Missense_Mutation_p.R23T NM_014829.2 NP_055644.2 Q7L014 DDX46_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 23 Arg-rich. mRNA processing|RNA splicing Cajal body|nuclear speck ATP binding|ATP-dependent helicase activity|RNA binding NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) AGTCGGTCTAGAAGTCGCTCA 0.468000 13 68 0 0 1 0 0 HEG1 57493 broad.mit.edu 37 3 124738226 124738226 + Missense_Mutation SNP C C T TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr3:124738226C>T ENST00000311127.4 - 5 1535 c.1468G>A c.(1468-1470)Gac>Aac p.D490N HEG1_ENST00000477536.1_5'UTR NM_020733.1 NP_065784.1 Q9ULI3 HEG1_HUMAN heart development protein with EGF-like domains 1 490 Ser-rich. extracellular region|integral to membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4) 47 ACAGTAGAGTCTGAGAACTGG 0.463000 46 174 0 0 1 0 0 MET 4233 broad.mit.edu 37 7 116340033 116340033 + Missense_Mutation SNP A A G TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr7:116340033A>G ENST00000397752.3 + 2 1095 c.895A>G c.(895-897)Att>Gtt p.I299V MET_ENST00000436117.2_Missense_Mutation_p.I299V|MET_ENST00000318493.6_Missense_Mutation_p.I299V NM_000245.2|NM_001127500.1 NP_000236.2|NP_001120972.1 P08581 MET_HUMAN met proto-oncogene 299 Sema. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) TCTGGAGTGTATTCTCACAGA 0.423000 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 21 78 0 0 1 0 0 SNRNP200 23020 broad.mit.edu 37 2 96963148 96963148 + Missense_Mutation SNP C C T TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr2:96963148C>T ENST00000323853.5 - 11 1407 c.1330G>A c.(1330-1332)Gag>Aag p.E444K SNRNP200_ENST00000349783.5_Missense_Mutation_p.E444K NM_014014.4 NP_054733.2 O75643 U520_HUMAN small nuclear ribonucleoprotein 200kDa (U5) 444 catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1) 90 ACATGCACCTCTTCATAGCCC 0.507000 12 34 0 0 1 0 0 PAPSS1 9061 broad.mit.edu 37 4 108641325 108641325 + Missense_Mutation SNP G G A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr4:108641325G>A ENST00000265174.4 - 1 283 c.11C>T c.(10-12)cCc>cTc p.P4L PAPSS1_ENST00000511304.1_5'UTR NM_005443.4 NP_005434.4 O43252 PAPS1_HUMAN 3'-phosphoadenosine 5'-phosphosulfate synthase 1 4 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process cytosol adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1) 16 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.49e-05) CAGGCTCCCGGGGATCTCCAT 0.682000 5 49 0 0 1 0 0 ACOT11 26027 broad.mit.edu 37 1 55058269 55058269 + Missense_Mutation SNP C C G TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr1:55058269C>G ENST00000371316.3 + 4 444 c.362C>G c.(361-363)tCc>tGc p.S121C ACOT11_ENST00000343744.2_Missense_Mutation_p.S121C|ACOT11_ENST00000481208.1_3'UTR NM_015547.3 NP_056362.1 Q8WXI4 ACO11_HUMAN acyl-CoA thioesterase 11 121 Acyl coenzyme A hydrolase 1.|Coenzyme A binding (By similarity). fatty acid metabolic process|intracellular signal transduction|response to cold acyl-CoA thioesterase activity|carboxylesterase activity NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1) 17 GCCTTCAACTCCAGCATGGAG 0.607000 17 37 0 0 1 0 0 SH3BP4 23677 broad.mit.edu 37 2 235950835 235950835 + Silent SNP C C G TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr2:235950835C>G ENST00000409212.1 + 4 1929 c.1422C>G c.(1420-1422)gtC>gtG p.V474V SH3BP4_ENST00000392011.2_Silent_p.V474V|SH3BP4_ENST00000344528.4_Silent_p.V474V Q9P0V3 SH3B4_HUMAN SH3-domain binding protein 4 474 endocytosis clathrin-coated vesicle|coated pit|nucleus protein binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2) 44 Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419) Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237) ATAAAAAAGTCACAGTGGGTC 0.547000 29 38 0 0 1 0 0 ROPN1B 152015 broad.mit.edu 37 3 125701278 125701278 + Missense_Mutation SNP G G C TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr3:125701278G>C ENST00000514116.1 + 6 877 c.562G>C c.(562-564)Gaa>Caa p.E188Q ROPN1B_ENST00000251776.4_Missense_Mutation_p.E188Q|ROPN1B_ENST00000505382.1_Missense_Mutation_p.E96Q|ROPN1B_ENST00000511082.1_Missense_Mutation_p.E96Q Q9BZX4 ROP1B_HUMAN rhophilin associated tail protein 1B 188 acrosome reaction|cell-cell adhesion|cytokinesis|fusion of sperm to egg plasma membrane|Rho protein signal transduction|sperm motility|spermatogenesis cytoplasm|flagellum cAMP-dependent protein kinase regulator activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling complex scaffold activity endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1) 8 GBM - Glioblastoma multiforme(114;0.151) AAACTACATTGAACAGGAAGT 0.418000 12 40 0 0 1 0 0 HEXA 3073 broad.mit.edu 37 15 72638653 72638653 + Silent SNP C C T TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr15:72638653C>T ENST00000268097.5 - 12 1847 c.1344G>A c.(1342-1344)caG>caA p.Q448Q HEXA_ENST00000429918.2_Silent_p.Q275Q|HEXA_ENST00000567159.1_Silent_p.Q448Q|HEXA_ENST00000566304.1_Silent_p.Q459Q|HEXA_ENST00000457859.2_3'UTR|RP11-106M3.3_ENST00000570175.1_RNA|RP11-106M3.2_ENST00000379915.4_RNA NM_000520.4 NP_000511.2 P06865 HEXA_HUMAN hexosaminidase A (alpha polypeptide) 448 cell death lysosome beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 24 CCAGAGCCTTCTGCTCAGGGG 0.562000 10 34 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152697692 152697692 + Splice_Site SNP G G C rs117360770 byFrequency TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr6:152697692G>C ENST00000367255.5 - 58 9749 c.9146_splice c.e58-1 p.L3050_splice SYNE1_ENST00000265368.4_Splice_Site_p.L3050_splice|SYNE1_ENST00000423061.1_Splice_Site_p.L3057_splice|SYNE1_ENST00000448038.1_Splice_Site_p.L3057_splice|SYNE1_ENST00000341594.5_Splice_Site_p.L3089_splice NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 3050 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TGCAAACAAAGACTGAAAAGG 0.393000 HNSCC(10;0.0054) 12 41 0 0 1 0 0 NPY 4852 broad.mit.edu 37 7 24325048 24325048 + Splice_Site SNP G G A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr7:24325048G>A ENST00000407573.1 + 3 478 c.e3+1 NPY_ENST00000405982.1_Splice_Site|NPY_ENST00000242152.2_Splice_Site P01303 NPY_HUMAN neuropeptide Y adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission cell|extracellular space calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1) 9 CCAGGCAGAGGTGGGTGGGAC 0.612000 7 22 0 0 1 0 0 PTK2 5747 broad.mit.edu 37 8 141727722 141727722 + Missense_Mutation SNP C C A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr8:141727722C>A ENST00000522684.1 - 23 2346 c.2117G>T c.(2116-2118)gGa>gTa p.G706V PTK2_ENST00000340930.3_Missense_Mutation_p.G706V|PTK2_ENST00000395218.2_Missense_Mutation_p.G706V|PTK2_ENST00000519465.1_Missense_Mutation_p.G334V|PTK2_ENST00000535192.1_Missense_Mutation_p.G706V|PTK2_ENST00000519419.1_Missense_Mutation_p.G750V|PTK2_ENST00000521059.1_Missense_Mutation_p.G706V|PTK2_ENST00000538769.1_Missense_Mutation_p.G374V|PTK2_ENST00000517887.1_Missense_Mutation_p.G750V|PTK2_ENST00000430260.2_Missense_Mutation_p.G16V NM_153831.3 NP_722560.1 Q05397 FAK1_HUMAN protein tyrosine kinase 2 706 axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly cytoskeleton|cytosol|focal adhesion ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 48 all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;2.72e-05)|Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.137) ATCAGACCCTCCGGAGTCCCA 0.517000 13 110 0.000219431 0.000221445 1 1 0 PDZRN4 29951 broad.mit.edu 37 12 41967568 41967568 + Missense_Mutation SNP T T A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr12:41967568T>A ENST00000298919.7 + 10 2595 c.2207T>A c.(2206-2208)aTg>aAg p.M736K PDZRN4_ENST00000539469.2_Missense_Mutation_p.M738K|PDZRN4_ENST00000402685.2_Missense_Mutation_p.M996K Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 996 ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) AAAAAGATGATGAAAAAGAGA 0.458000 13 48 0 0 1 0 0 CNGA2 1260 broad.mit.edu 37 X 150912151 150912151 + Silent SNP G G A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chrX:150912151G>A ENST00000329903.4 + 6 1209 c.1176G>A c.(1174-1176)gtG>gtA p.V392V NM_005140.1 NP_005131.1 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 392 response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2) 49 Acute lymphoblastic leukemia(192;6.56e-05) TCGATGCCGTGAAACACTACA 0.512000 20 41 0 0 1 0 0 PIK3CG 5294 broad.mit.edu 37 7 106508944 106508944 + Missense_Mutation SNP C C T TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr7:106508944C>T ENST00000359195.3 + 2 1248 c.938C>T c.(937-939)cCg>cTg p.P313L PIK3CG_ENST00000496166.1_Missense_Mutation_p.P313L|PIK3CG_ENST00000440650.2_Missense_Mutation_p.P313L NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 313 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 CCTCCAGACCCGGCCCTAGAC 0.587000 8 69 0 0 1 0 0 ITPR3 3710 broad.mit.edu 37 6 33660511 33660511 + Missense_Mutation SNP C C G TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr6:33660511C>G ENST00000374316.5 + 56 8525 c.7465C>G c.(7465-7467)Ctc>Gtc p.L2489V ITPR3_ENST00000605930.1_Missense_Mutation_p.L2489V Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 2489 activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 GCAGGAGTCTCTCTTCCCAGC 0.557000 14 73 0 0 1 0 0 PCED1A 64773 broad.mit.edu 37 20 2819590 2819590 + Missense_Mutation SNP G G A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr20:2819590G>A ENST00000360652.2 - 4 845 c.343C>T c.(343-345)Cgt>Tgt p.R115C PCED1A_ENST00000356872.3_Intron NM_022760.3 NP_073597.2 PC-esterase domain containing 1A p.R115S(1) GAGTAAACACGAGTGAGGAAG 0.587000 21 103 0 0 1 0 0 GDF5 8200 broad.mit.edu 37 20 34022455 34022455 + Missense_Mutation SNP G G A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr20:34022455G>A ENST00000374372.1 - 4 1261 c.758C>T c.(757-759)gCg>gTg p.A253V GDF5OS_ENST00000374375.1_Missense_Mutation_p.A167T|GDF5_ENST00000374369.3_Missense_Mutation_p.A253V P43026 GDF5_HUMAN growth differentiation factor 5 253 cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3) 26 Lung NSC(9;0.00642)|all_lung(11;0.0094) BRCA - Breast invasive adenocarcinoma(18;0.00663) TCCGGGGGCCGCTGGCTTGGC 0.697000 15 46 0 0 1 0 0 POM121L12 285877 broad.mit.edu 37 7 53103801 53103801 + Missense_Mutation SNP G G A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr7:53103801G>A ENST00000408890.4 + 1 453 c.437G>A c.(436-438)cGt>cAt p.R146H NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 146 p.R146H(1) endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 CCCCCTGAGCGTCAGGAGAGC 0.711000 7 26 0 0 1 0 0 ITGA3 3675 broad.mit.edu 37 17 48154800 48154800 + Missense_Mutation SNP C C T TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr17:48154800C>T ENST00000320031.8 + 16 2458 c.2128C>T c.(2128-2130)Cgg>Tgg p.R710W ITGA3_ENST00000007722.7_Missense_Mutation_p.R710W NM_002204.2|NM_005501.2 NP_002195.1|NP_005492.1 P26006 ITA3_HUMAN integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) 710 blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration cell surface|integrin complex protein binding|receptor activity endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2) 31 CCCCTTCAAACGGAACCAGAG 0.602000 21 75 0 0 1 0 0 CDK13 8621 broad.mit.edu 37 7 40039015 40039015 + Missense_Mutation SNP C C T TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr7:40039015C>T ENST00000181839.4 + 4 2703 c.2098C>T c.(2098-2100)Cgc>Tgc p.R700C CDK13_ENST00000340829.5_Missense_Mutation_p.R700C|CDK13_ENST00000484589.1_3'UTR NM_003718.4|NM_031267.3 NP_003709.3|NP_112557.2 Q14004 CDK13_HUMAN cyclin-dependent kinase 13 700 R -> L (in dbSNP:rs1057000). alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity p.R700G(1)|p.L700V(1) cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1) 49 CTGGGGAAAACGCTGCGTGGA 0.358000 21 60 0 0 1 0 0 OR8S1 341568 broad.mit.edu 37 12 48919952 48919952 + Missense_Mutation SNP G G C TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr12:48919952G>C ENST00000310194.1 + 1 538 c.538G>C c.(538-540)Gag>Cag p.E180Q OR8S1_ENST00000551654.1_Intron NM_001005203.2 NP_001005203.2 Q8NH09 OR8S1_HUMAN olfactory receptor, family 8, subfamily S, member 1 180 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4) 22 CTACAGCTATGAGATGCCATC 0.512000 18 78 0 0 1 0 0 TFPI2 7980 broad.mit.edu 37 7 93519569 93519569 + Missense_Mutation SNP G G A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr7:93519569G>A ENST00000222543.5 - 2 463 c.151C>T c.(151-153)Cgt>Tgt p.R51C TFPI2_ENST00000545378.1_Missense_Mutation_p.R51C|GNGT1_ENST00000455502.1_Intron NM_006528.3 NP_006519.1 P48307 TFPI2_HUMAN tissue factor pathway inhibitor 2 51 BPTI/Kunitz inhibitor 1. blood coagulation proteinaceous extracellular matrix extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218) STAD - Stomach adenocarcinoma(171;0.000967) TAGTAGTAACGGAGAAGTAGG 0.577000 16 66 0 0 1 0 0 MAN2C1 4123 broad.mit.edu 37 15 75660449 75660449 + Silent SNP G G A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr15:75660449G>A ENST00000565683.1 - 2 203 c.192C>T c.(190-192)ttC>ttT p.F64F MAN2C1_ENST00000267978.5_Silent_p.F64F|MAN2C1_ENST00000569482.1_Silent_p.F64F|MAN2C1_ENST00000563622.1_Silent_p.F64F|MAN2C1_ENST00000563539.1_5'UTR NM_001256494.1 NP_001243423.1 Q9NTJ4 MA2C1_HUMAN mannosidase, alpha, class 2C, member 1 64 mannose metabolic process alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 44 GCGCGGGGCGGAAGTCCCGCT 0.687000 3 7 0 0 1 0 0 CLCNKA 1187 broad.mit.edu 37 1 16357119 16357119 + Missense_Mutation SNP C C G TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr1:16357119C>G ENST00000375692.1 + 16 1700 c.1572C>G c.(1570-1572)atC>atG p.I524M CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000331433.4_Missense_Mutation_p.I524M|CLCNKA_ENST00000439316.2_Missense_Mutation_p.I481M|CLCNKA_ENST00000420078.1_Missense_Mutation_p.I524M P51800 CLCKA_HUMAN chloride channel, voltage-sensitive Ka 524 excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1) 19 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) Niflumic Acid(DB04552) ATGGCACCATCATTGTCAAGA 0.602000 16 50 0 0 1 0 0 DAAM2 23500 broad.mit.edu 37 6 39864721 39864721 + Silent SNP C C G TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr6:39864721C>G ENST00000538976.1 + 20 2657 c.2475C>G c.(2473-2475)ctC>ctG p.L825L DAAM2_ENST00000398904.2_Silent_p.L825L|RP11-61I13.3_ENST00000606829.1_RNA|RP11-61I13.3_ENST00000430595.1_RNA|RP11-61I13.3_ENST00000420293.1_RNA|DAAM2_ENST00000274867.4_Silent_p.L825L NM_015345.3 NP_056160.2 Q86T65 DAAM2_HUMAN dishevelled associated activator of morphogenesis 2 825 FH2. actin cytoskeleton organization actin binding|Rho GTPase binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5) 49 Ovarian(28;0.0355)|Colorectal(47;0.196) TGGCCAGCCTCAACAAGATCG 0.587000 13 32 0 0 1 0 0 SURF4 6836 broad.mit.edu 37 9 136231752 136231752 + Missense_Mutation SNP G G C rs143747201 TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr9:136231752G>C ENST00000371989.3 - 5 636 c.507C>G c.(505-507)ttC>ttG p.F169L SURF4_ENST00000371991.3_Missense_Mutation_p.F169L|SURF4_ENST00000485435.2_Intron|SURF4_ENST00000467910.1_5'UTR|SURF4_ENST00000545297.1_Intron NM_033161.2 NP_149351.1 O15260 SURF4_HUMAN surfeit 4 169 endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane protein binding kidney(1)|large_intestine(2)|lung(5) 8 OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05) GGAGGGTCATGAACATCAGAA 0.557000 8 32 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132471207 132471207 + Missense_Mutation SNP C C T TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr12:132471207C>T ENST00000333577.4 + 7 2295 c.2186C>T c.(2185-2187)tCa>tTa p.S729L EP400_ENST00000330386.6_Missense_Mutation_p.S693L|EP400_ENST00000332482.4_Missense_Mutation_p.S656L|EP400_ENST00000389561.2_Missense_Mutation_p.S693L|EP400_ENST00000389562.2_Missense_Mutation_p.S692L Q96L91 EP400_HUMAN E1A binding protein p400 729 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) AGACCTTCCTCAGCCACCAAT 0.622000 30 122 0 0 1 0 0 NEK1 4750 broad.mit.edu 37 4 170327760 170327760 + Missense_Mutation SNP C C G TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr4:170327760C>G ENST00000439128.2 - 30 3917 c.3277G>C c.(3277-3279)Gat>Cat p.D1093H NEK1_ENST00000510533.1_Missense_Mutation_p.D1049H|NEK1_ENST00000507142.1_Missense_Mutation_p.D1121H|NEK1_ENST00000511633.1_Missense_Mutation_p.D1077H|NEK1_ENST00000512193.1_Missense_Mutation_p.D1024H NM_012224.2 NP_036356.1 Q96PY6 NEK1_HUMAN NIMA-related kinase 1 1093 cell division|cilium assembly|mitosis nucleus|pericentriolar material ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1) 45 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14) TCTTCAGAATCAGAAGGTCCT 0.328000 4 23 0 0 1 0 0 NXN 64359 broad.mit.edu 37 17 725684 725684 + Missense_Mutation SNP C C T TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr17:725684C>T ENST00000336868.3 - 4 717 c.626G>A c.(625-627)cGa>cAa p.R209Q NXN_ENST00000575801.1_Missense_Mutation_p.R101Q|NXN_ENST00000538650.1_5'UTR|NXN_ENST00000537628.2_5'UTR NM_022463.4 NP_071908.2 Q6DKJ4 NXN_HUMAN nucleoredoxin 209 Thioredoxin. cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway cytosol|nucleus protein-disulfide reductase activity breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1) 13 UCEC - Uterine corpus endometrioid carcinoma (25;0.0237) GGTGAGGCTTCGGCAGGGCGG 0.602000 10 37 0 0 1 0 0 FBXL7 23194 broad.mit.edu 37 5 15937205 15937205 + Missense_Mutation SNP G G T TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr5:15937205G>T ENST00000504595.1 + 4 1867 c.1386G>T c.(1384-1386)caG>caT p.Q462H FBXL7_ENST00000510662.1_Missense_Mutation_p.Q415H|FBXL7_ENST00000329673.7_Missense_Mutation_p.Q450H NM_001278317.1|NM_012304.3 NP_001265246.1|NP_036436.1 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 462 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 TGAATGTCCAGGACTGCGAGG 0.612000 7 21 8.12818e-05 8.24056e-05 1 1 0 MAP1B 4131 broad.mit.edu 37 5 71490923 71490923 + Missense_Mutation SNP G G C TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr5:71490923G>C ENST00000296755.7 + 5 2039 c.1741G>C c.(1741-1743)Gaa>Caa p.E581Q NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 581 microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) ACCCAAAGTTGAAAGCAAAGA 0.443000 6 37 0 0 1 0 0 DGKH 160851 broad.mit.edu 37 13 42701667 42701667 + Silent SNP C C T rs140398882 TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr13:42701667C>T ENST00000337343.4 + 2 282 c.261C>T c.(259-261)ttC>ttT p.F87F DGKH_ENST00000379274.2_5'UTR|DGKH_ENST00000540693.1_Silent_p.F87F|DGKH_ENST00000261491.4_Silent_p.F87F NM_178009.3 NP_821077.1 Q86XP1 DGKH_HUMAN diacylglycerol kinase, eta 87 PH. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization endosome|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109) AGCGATACTTCAAACTTCGAG 0.408000 6 29 0 0 1 0 0 SHD 56961 broad.mit.edu 37 19 4283194 4283194 + Missense_Mutation SNP C C A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr19:4283194C>A ENST00000543264.2 + 3 2010 c.547C>A c.(547-549)Cag>Aag p.Q183K SHD_ENST00000599689.1_Missense_Mutation_p.Q183K NM_020209.3 NP_064594.3 Q96IW2 SHD_HUMAN Src homology 2 domain containing transforming protein D 183 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) TGAGTATGATCAGCCCTGGGA 0.577000 10 55 3.86212e-05 3.95194e-05 1 1 0 CAMK1G 57172 broad.mit.edu 37 1 209786148 209786148 + Silent SNP C C A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr1:209786148C>A ENST00000009105.1 + 12 1604 c.1359C>A c.(1357-1359)gtC>gtA p.V453V CAMK1G_ENST00000361322.2_Silent_p.V453V Q96NX5 KCC1G_HUMAN calcium/calmodulin-dependent protein kinase IG 453 Golgi membrane|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1) 20 OV - Ovarian serous cystadenocarcinoma(81;0.0475) AGTCGGAGGTCATGGTACCAG 0.517000 21 74 1.90627e-21 2.08646e-21 1 1 0 TRRAP 8295 broad.mit.edu 37 7 98524949 98524949 + Missense_Mutation SNP G G C TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr7:98524949G>C ENST00000359863.4 + 23 3344 c.3135G>C c.(3133-3135)ttG>ttC p.L1045F TRRAP_ENST00000355540.3_Missense_Mutation_p.L1045F|TRRAP_ENST00000446306.3_Missense_Mutation_p.L1044F NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 1045 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TCGCCAGCTTGATCCGCCACT 0.592000 4 21 0 0 1 0 0 MGARP 84709 broad.mit.edu 37 4 140196470 140196470 + Silent SNP G G A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr4:140196470G>A ENST00000398955.1 - 2 338 c.159C>T c.(157-159)ggC>ggT p.G53G NM_032623.3 NP_116012.2 Q8TDB4 CD049_HUMAN mitochondria-localized glutamic acid-rich protein 53 integral to membrane TGACTGTGACGCCTACAACCA 0.378000 9 71 0 0 1 0 0 RGPD3 653489 broad.mit.edu 37 2 107049685 107049685 + Silent SNP G G C TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr2:107049685G>C ENST00000409886.3 - 16 2349 c.2262C>G c.(2260-2262)ctC>ctG p.L754L RGPD3_ENST00000304514.7_Silent_p.L754L NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 754 intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TATAGTTTTCGAGTTCCTGCA 0.368000 36 220 0 0 1 0 0 SLC6A3 6531 broad.mit.edu 37 5 1406340 1406340 + Missense_Mutation SNP C C T TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr5:1406340C>T ENST00000270349.9 - 12 1689 c.1562G>A c.(1561-1563)cGg>cAg p.R521Q SLC6A3_ENST00000453492.2_Missense_Mutation_p.R521Q NM_001044.4 NP_001035.1 Q01959 SC6A3_HUMAN solute carrier family 6 (neurotransmitter transporter), member 3 521 cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 38 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) CCAGCACAGCCGCCAGTACAG 0.657000 24 83 0 0 1 0 0 ELOVL3 83401 broad.mit.edu 37 10 103988638 103988638 + Missense_Mutation SNP C C T TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr10:103988638C>T ENST00000370005.3 + 4 663 c.442C>T c.(442-444)Cac>Tac p.H148Y NM_152310.1 NP_689523.1 Q9HB03 ELOV3_HUMAN ELOVL fatty acid elongase 3 148 fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1) 16 Colorectal(252;0.207) Epithelial(162;4.47e-08)|all cancers(201;7.96e-07) TCACTGGTACCACCACAGCAC 0.512000 38 126 0 0 1 0 0 PPP1R14C 81706 broad.mit.edu 37 6 150535945 150535945 + Silent SNP G G A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr6:150535945G>A ENST00000361131.4 + 2 489 c.372G>A c.(370-372)gaG>gaA p.E124E NM_030949.2 NP_112211.1 Q8TAE6 PP14C_HUMAN protein phosphatase 1, regulatory (inhibitor) subunit 14C 124 regulation of phosphorylation cytoplasm|membrane endometrium(1)|large_intestine(1)|prostate(1) 3 Ovarian(120;0.0284) BRCA - Breast invasive adenocarcinoma(37;0.215) OV - Ovarian serous cystadenocarcinoma(155;9.14e-12) GTGATGAAGAGAGAGCTTCAA 0.423000 24 81 0 0 1 0 0 CEP85 64793 broad.mit.edu 37 1 26581908 26581908 + Missense_Mutation SNP C C G TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr1:26581908C>G ENST00000252992.4 + 4 586 c.455C>G c.(454-456)tCt>tGt p.S152C CEP85_ENST00000451429.2_Missense_Mutation_p.S101C NM_022778.2 NP_073615.2 Q6P2H3 CEP85_HUMAN centrosomal protein 85kDa 152 centrosome|nucleolus|spindle pole breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2) 25 ATGTATTTCTCTGGTGCTACT 0.463000 18 81 0 0 1 0 0 MYC 4609 broad.mit.edu 37 8 128750945 128750945 + Missense_Mutation SNP C C T TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr8:128750945C>T ENST00000377970.2 + 2 992 c.482C>T c.(481-483)tCa>tTa p.S161L MYC_ENST00000259523.6_Missense_Mutation_p.S146L|MYC_ENST00000524013.1_Missense_Mutation_p.S160L NM_002467.4 NP_002458.2 P01106 MYC_HUMAN v-myc avian myelocytomatosis viral oncogene homolog 146 branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug nucleolus|nucleoplasm E-box binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 16 all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185) Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22) Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151) KIRC - Kidney renal clear cell carcinoma(542;0.248) AAGCTCGTCTCAGAGAAGCTG 0.622000 3 """A, T""" """IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@""" """Burkitt lymphoma, amplified in other cancers, B-CLL""" OREG0018982 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 35 0 0 1 0 0 KRT74 121391 broad.mit.edu 37 12 52967160 52967160 + Missense_Mutation SNP C C G TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr12:52967160C>G ENST00000549343.1 - 1 440 c.402G>C c.(400-402)caG>caC p.Q134H KRT74_ENST00000305620.2_Missense_Mutation_p.Q134H Q7RTS7 K2C74_HUMAN keratin 74 134 Head. keratin filament structural molecule activity kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 BRCA - Breast invasive adenocarcinoma(357;0.191) CGCGCACCTTCTGGATCTCAG 0.592000 22 90 0 0 1 0 0 FIBCD1 84929 broad.mit.edu 37 9 133779573 133779573 + Nonsense_Mutation SNP G G A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr9:133779573G>A ENST00000372338.4 - 7 1506 c.1264C>T c.(1264-1266)Cag>Tag p.Q422* FIBCD1_ENST00000253018.4_Intron|FIBCD1_ENST00000448616.1_Nonsense_Mutation_p.Q422*|FIBCD1_ENST00000372337.2_Nonsense_Mutation_p.Q264* NM_032843.4 NP_116232.3 Q8N539 FBCD1_HUMAN fibrinogen C domain containing 1 422 Fibrinogen C-terminal. signal transduction extracellular space|integral to membrane chitin binding|metal ion binding|receptor binding kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1) 12 all_hematologic(7;0.0028) OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019) CGCAGGTACTGCCCATTGAGG 0.612000 10 106 0 0 1 0 0 ZNF215 7762 broad.mit.edu 37 11 6977363 6977363 + Silent SNP G G A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr11:6977363G>A ENST00000278319.5 + 7 1743 c.1155G>A c.(1153-1155)ggG>ggA p.G385G ZNF215_ENST00000414517.2_Silent_p.G385G|ZNF215_ENST00000529903.1_Intron NM_013250.2 NP_037382.2 Q9UL58 ZN215_HUMAN zinc finger protein 215 385 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4) 32 Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134) ATCAATGTGGGAAAGCCTTCT 0.383000 25 55 0 0 1 0 0 TIAM1 7074 broad.mit.edu 37 21 32595799 32595799 + Missense_Mutation SNP G G A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr21:32595799G>A ENST00000286827.3 - 9 2389 c.1918C>T c.(1918-1920)Ctc>Ttc p.L640F TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.L640F NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 640 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity p.L640I(2) autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 GCAAAAGCGAGAAGCCTTTTG 0.498000 31 71 0 0 1 0 0 NFAT5 10725 broad.mit.edu 37 16 69727105 69727105 + Missense_Mutation SNP C C T TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr16:69727105C>T ENST00000349945.1 + 14 4647 c.3095C>T c.(3094-3096)tCc>tTc p.S1032F NFAT5_ENST00000567239.1_Missense_Mutation_p.S1125F|NFAT5_ENST00000354436.2_Missense_Mutation_p.S1108F|NFAT5_ENST00000393742.2_Missense_Mutation_p.S1032F|NFAT5_ENST00000432919.1_Missense_Mutation_p.S1126F|NFAT5_ENST00000566899.1_Missense_Mutation_p.S1032F NM_138714.3 NP_619728.2 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5, tonicity-responsive 1108 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 TCTACAACCTCCTCTGAACAA 0.438000 48 147 0 0 1 0 0 PHRF1 57661 broad.mit.edu 37 11 608214 608214 + Missense_Mutation SNP G G C TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr11:608214G>C ENST00000264555.5 + 14 2886 c.2758G>C c.(2758-2760)Gag>Cag p.E920Q PHRF1_ENST00000416188.2_Missense_Mutation_p.E919Q|PHRF1_ENST00000413872.2_Missense_Mutation_p.E918Q|PHRF1_ENST00000533464.1_Missense_Mutation_p.E916Q NM_020901.2 NP_065952.2 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 920 RNA polymerase binding|zinc ion binding breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2) 28 CACGGAGCGAGAGGAGCCCAC 0.682000 7 54 0 0 1 0 0 NDC80 10403 broad.mit.edu 37 18 2589202 2589202 + Splice_Site SNP G G A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr18:2589202G>A ENST00000261597.4 + 9 945 c.e9-1 NM_006101.2 NP_006092.1 O14777 NDC80_HUMAN NDC80 kinetochore complex component attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex protein binding NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2) 22 TTTGTCTCCAGAGGATTTATT 0.378000 13 66 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49432444 49432444 + Missense_Mutation SNP C C T TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr12:49432444C>T ENST00000301067.7 - 34 8694 c.8695G>A c.(8695-8697)Ggc>Agc p.G2899S NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D TGAGGTGGGCCCTGACCAGGA 0.617000 14 24 0 0 1 0 0 C10orf2 56652 broad.mit.edu 37 10 102749197 102749197 + Silent SNP G G A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr10:102749197G>A ENST00000370228.1 + 1 1415 c.1230G>A c.(1228-1230)ctG>ctA p.L410L C10orf2_ENST00000311916.2_Silent_p.L410L|C10orf2_ENST00000473656.1_Intron NM_001163812.1|NM_001163814.1 NP_001157284.1|NP_001157286.1 Q96RR1 PEO1_HUMAN chromosome 10 open reading frame 2 410 SF4 helicase. cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter mitochondrial nucleoid 5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1) 24 Colorectal(252;0.122)|all_hematologic(284;0.152) Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224) AGGGCGAGCTGACGGTCTTCA 0.502000 13 62 0 0 1 0 0 MCF2 4168 broad.mit.edu 37 X 138664652 138664652 + Missense_Mutation SNP G G A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chrX:138664652G>A ENST00000520602.1 - 28 3221 c.2936C>T c.(2935-2937)tCg>tTg p.S979L MCF2_ENST00000338585.6_Missense_Mutation_p.S935L|MCF2_ENST00000414978.1_Missense_Mutation_p.S979L|MCF2_ENST00000536274.1_Missense_Mutation_p.R806W|MCF2_ENST00000370573.4_Missense_Mutation_p.R845W|MCF2_ENST00000370576.4_Missense_Mutation_p.S919L|MCF2_ENST00000370578.4_Missense_Mutation_p.S1064L|MCF2_ENST00000519895.1_Missense_Mutation_p.S995L P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence 919 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1) 62 Acute lymphoblastic leukemia(192;0.000127) AGCCATCTCCGACACAGGTCT 0.448000 3 37 0 0 1 0 0 VAV3 10451 broad.mit.edu 37 1 108315464 108315464 + Splice_Site SNP C C G TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr1:108315464C>G ENST00000370056.4 - 5 722 c.446_splice c.e5-1 p.E150_splice VAV3_ENST00000527011.1_Splice_Site_p.E150_splice|VAV3_ENST00000371846.4_Splice_Site_p.E85_splice|VAV3_ENST00000343258.4_5'UTR NM_006113.4 NP_006104.4 Q9UKW4 VAV3_HUMAN vav 3 guanine nucleotide exchange factor 150 angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1) 58 all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594) Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204) ACAAGGGTTTCACTACAACAA 0.368000 13 74 0 0 1 0 0 ZNF236 7776 broad.mit.edu 37 18 74637271 74637271 + Missense_Mutation SNP G G A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr18:74637271G>A ENST00000253159.8 + 22 3980 c.3782G>A c.(3781-3783)cGt>cAt p.R1261H ZNF236_ENST00000320610.9_Missense_Mutation_p.R1263H NM_007345.3 NP_031371.3 Q9UL36 ZN236_HUMAN zinc finger protein 236 1261 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 94 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) CTGCGTTTCCGTACCTCGGGT 0.537000 10 56 0 0 1 0 0 C3orf36 80111 broad.mit.edu 37 3 133647532 133647532 + Nonsense_Mutation SNP G G C TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr3:133647532G>C ENST00000408895.2 - 1 1124 c.116C>G c.(115-117)tCa>tGa p.S39* NM_025041.2 NP_079317.2 Q3SXR2 CC036_HUMAN chromosome 3 open reading frame 36 39 breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1) 6 TCCAGGCCCTGAGGGGGCAGA 0.612000 13 34 0 0 1 0 0 ADNP 23394 broad.mit.edu 37 20 49509600 49509600 + Missense_Mutation SNP C C G TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr20:49509600C>G ENST00000396029.3 - 5 2218 c.1651G>C c.(1651-1653)Gat>Cat p.D551H ADNP_ENST00000349014.3_Missense_Mutation_p.D551H|ADNP_ENST00000371602.4_Missense_Mutation_p.D551H|ADNP_ENST00000396032.3_Missense_Mutation_p.D551H NM_015339.2 NP_056154.1 Q9H2P0 ADNP_HUMAN activity-dependent neuroprotector homeobox 551 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2) 39 AATGTCAAATCAAAACTCAAA 0.448000 25 127 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 50976938 50976938 + Missense_Mutation SNP G G T TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr18:50976938G>T ENST00000442544.2 + 23 3914 c.3298G>T c.(3298-3300)Gtg>Ttg p.V1100L DCC_ENST00000581580.1_Missense_Mutation_p.V735L NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 1100 apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) CAACCTGCTTGTGATCATTGT 0.527000 5 63 0.000602214 0.000602214 1 1 0 TACR2 6865 broad.mit.edu 37 10 71168822 71168822 + Silent SNP G G A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr10:71168822G>A ENST00000373306.4 - 3 1140 c.597C>T c.(595-597)ctC>ctT p.L199L TACR2_ENST00000373307.1_5'UTR NM_001057.2 NP_001048.2 P21452 NK2R_HUMAN tachykinin receptor 2 199 excretion|muscle contraction integral to plasma membrane tachykinin receptor activity p.L199L(1) endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 11 Clonidine(DB00575)|Octreotide(DB00104) CGATCACCACGAGGTGGTACC 0.687000 4 15 0 0 1 0 0 TSSC2 650368 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 4 64 0 0 1 0 0 SNORD3B-2 780852 broad.mit.edu 37 17 18967371 18967371 + RNA SNP G G C TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr17:18967371G>C ENST00000364880.1 - 0 78 tctcttcctcggggttttcgg 0.498000 9 25 0 0 1 0 0 MOV10L1 54456 broad.mit.edu 37 22 50553671 50553671 + Missense_Mutation SNP G G A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr22:50553671G>A ENST00000262794.5 + 8 1338 c.1255G>A c.(1255-1257)Gga>Aga p.G419R MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Missense_Mutation_p.G419R|MOV10L1_ENST00000545383.1_Missense_Mutation_p.G419R|MOV10L1_ENST00000540615.1_Missense_Mutation_p.G399R NM_018995.2 NP_061868.1 Q9BXT6 M10L1_HUMAN Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) 419 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding p.G419*(1)|p.G399*(1) breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3) 67 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) CATCTGTGACGGAAAGTAAGG 0.498000 27 130 0 0 1 0 0 HABP4 22927 broad.mit.edu 37 9 99252296 99252296 + Silent SNP G G A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr9:99252296G>A ENST00000375249.4 + 8 1293 c.1218G>A c.(1216-1218)ccG>ccA p.P406P HABP4_ENST00000466976.1_3'UTR|HABP4_ENST00000375251.3_Silent_p.P301P NM_014282.2 NP_055097.2 Q5JVS0 HABP4_HUMAN hyaluronan binding protein 4 406 platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|extracellular region|nucleus protein binding NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 13 Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214) CAGATGACCCGGAAGATTTCC 0.522000 5 52 0 0 1 0 0 GDA 9615 broad.mit.edu 37 9 74828882 74828882 + Missense_Mutation SNP G G A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr9:74828882G>A ENST00000358399.3 + 5 646 c.553G>A c.(553-555)Gag>Aag p.E185K GDA_ENST00000376986.1_Missense_Mutation_p.E143K|GDA_ENST00000545168.1_Missense_Mutation_p.E111K|GDA_ENST00000238018.4_Missense_Mutation_p.E185K|GDA_ENST00000376989.3_Missense_Mutation_p.E160K|GDA_ENST00000477618.1_3'UTR NM_001242505.2|NM_001242506.2|NM_004293.4 NP_001229434.1|NP_001229435.1|NP_004284.1 Q9Y2T3 GUAD_HUMAN guanine deaminase 185 nervous system development|purine base metabolic process|purine nucleotide catabolic process cytosol guanine deaminase activity|zinc ion binding central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1) 32 Myeloproliferative disorder(762;0.0122) Lung(182;0.0583) GGAGACCACTGAGGAATCGAT 0.403000 10 41 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187530372 187530372 + Nonsense_Mutation SNP C C A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr4:187530372C>A ENST00000441802.2 - 16 10380 c.10171G>T c.(10171-10173)Gaa>Taa p.E3391* NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 3391 Cadherin 31. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 ACTTTGACTTCTCCCCTGACG 0.443000 HNSCC(5;0.00058) 28 24 1.17739e-12 1.26354e-12 1 1 0 HIST1H2BD 3017 broad.mit.edu 37 6 26158595 26158595 + Silent SNP C C T TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr6:26158595C>T ENST00000289316.2 + 1 222 c.198C>T c.(196-198)ttC>ttT p.F66F HIST1H2BD_ENST00000377777.4_Silent_p.F66F NM_138720.2 NP_619790.1 P58876 H2B1D_HUMAN histone cluster 1, H2bd 66 nucleosome assembly nucleosome|nucleus DNA binding breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 24 TGAATTCCTTCGTCAACGACA 0.577000 38 175 0 0 1 0 0 SOWAHB 345079 broad.mit.edu 37 4 77818756 77818756 + Missense_Mutation SNP C C G TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr4:77818756C>G ENST00000334306.2 - 1 246 c.247G>C c.(247-249)Gag>Cag p.E83Q NM_001029870.1 NP_001025041.1 A6NEL2 ANR56_HUMAN sosondowah ankyrin repeat domain family member B 83 AGCCCCTCCTCCCCCAAAAGG 0.736000 8 27 0 0 1 0 0 TBK1 29110 broad.mit.edu 37 12 64878099 64878099 + Missense_Mutation SNP G G A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr12:64878099G>A ENST00000331710.5 + 9 1348 c.1009G>A c.(1009-1011)Gaa>Aaa p.E337K NM_013254.3 NP_037386.1 Q9UHD2 TBK1_HUMAN TANK-binding kinase 1 337 Ubiquitin-like. I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1) 20 GBM - Glioblastoma multiforme(28;0.0386) TATATTTCATGAACTGGTATA 0.353000 4 16 0 0 1 0 0 H6PD 9563 broad.mit.edu 37 1 9305538 9305538 + Missense_Mutation SNP C C T TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr1:9305538C>T ENST00000377403.2 + 2 847 c.545C>T c.(544-546)tCa>tTa p.S182L H6PD_ENST00000602477.1_Missense_Mutation_p.S193L NM_004285.3 NP_004276.2 O95479 G6PE_HUMAN hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) 182 Glucose 1-dehydrogenase. endoplasmic reticulum lumen 6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 all_lung(157;0.23) all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419) NADH(DB00157) GACCACTTCTCAGCCCAGCAG 0.582000 14 88 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55591146 55591146 + Missense_Mutation SNP C C A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr10:55591146C>A ENST00000373965.2 - 31 4546 c.4152G>T c.(4150-4152)ttG>ttT p.L1384F PCDH15_ENST00000414778.1_Missense_Mutation_p.L1382F|PCDH15_ENST00000409834.1_Missense_Mutation_p.L988F|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395430.1_Missense_Mutation_p.L1377F|PCDH15_ENST00000395445.1_Missense_Mutation_p.L1384F|PCDH15_ENST00000395433.1_Missense_Mutation_p.L1355F|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.L1340F|PCDH15_ENST00000395438.1_Missense_Mutation_p.L1377F|PCDH15_ENST00000437009.1_Missense_Mutation_p.L1306F|PCDH15_ENST00000320301.6_Missense_Mutation_p.L1377F|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.L1377F|PCDH15_ENST00000395440.1_Intron NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1377 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) CCAGAGCCAACAAGGCCCCTT 0.488000 HNSCC(58;0.16) 14 78 1.3612e-06 1.41257e-06 1 1 0 HLA-A 3105 broad.mit.edu 37 6 29910349 29910349 + Nonsense_Mutation SNP C C T TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr6:29910349C>T ENST00000396634.1 + 3 360 c.19C>T c.(19-21)Cga>Tga p.R7* HLA-A_ENST00000376806.5_Nonsense_Mutation_p.R7*|HLA-A_ENST00000376802.2_Nonsense_Mutation_p.R7*|HLA-A_ENST00000376809.5_Nonsense_Mutation_p.R7* P30443 1A01_HUMAN major histocompatibility complex, class I, A 7 antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 CATGGCGCCCCGAACCCTCCT 0.677000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 10 73 0 0 1 0 0 KYNU 8942 broad.mit.edu 37 2 143676204 143676204 + Missense_Mutation SNP G G C TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr2:143676204G>C ENST00000264170.4 + 3 454 c.196G>C c.(196-198)Gaa>Caa p.E66Q KYNU_ENST00000410015.2_Missense_Mutation_p.E66Q|KYNU_ENST00000409512.1_Missense_Mutation_p.E66Q|KYNU_ENST00000375773.2_Missense_Mutation_p.E66Q NM_003937.2 NP_003928.1 Q16719 KYNU_HUMAN kynureninase 66 anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6 cytosol|mitochondrion|soluble fraction kynureninase activity|protein homodimerization activity large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4) 36 BRCA - Breast invasive adenocarcinoma(221;0.072) L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114) GAATAAAGATGAAAATGCCAT 0.294000 7 20 0 0 1 0 0 TMEM74B 55321 broad.mit.edu 37 20 1161732 1161732 + Silent SNP G G A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr20:1161732G>A ENST00000381894.3 - 2 1202 c.531C>T c.(529-531)atC>atT p.I177I NM_018354.1 NP_060824.1 Q9NUR3 CT046_HUMAN transmembrane protein 74B 177 integral to membrane protein binding GGCCTGCGATGATGCACCTGT 0.647000 15 43 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195481096 195481096 + Missense_Mutation SNP G G A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr3:195481096G>A ENST00000463781.3 - 19 15775 c.15316C>T c.(15316-15318)Cgg>Tgg p.R5106W MUC4_ENST00000475231.1_Missense_Mutation_p.R5054W|MUC4_ENST00000349607.4_Missense_Mutation_p.R819W|MUC4_ENST00000346145.4_Missense_Mutation_p.R870W NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 1863 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GCACAGTGCCGCCCATCCCCA 0.637000 23 76 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578442 7578442 + Missense_Mutation SNP T T C rs148924904 TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr17:7578442T>C ENST00000420246.2 - 5 620 c.488A>G c.(487-489)tAc>tGc p.Y163C TP53_ENST00000269305.4_Missense_Mutation_p.Y163C|TP53_ENST00000359597.4_Missense_Mutation_p.Y163C|TP53_ENST00000455263.2_Missense_Mutation_p.Y163C|TP53_ENST00000445888.2_Missense_Mutation_p.Y163C|TP53_ENST00000413465.2_Missense_Mutation_p.Y163C NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 163 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Y163C(134)|p.Y70C(12)|p.Y31C(12)|p.0?(8)|p.Y163S(7)|p.V157_C176del20(1)|p.Y31S(1)|p.Y163fs*1(1)|p.Y70S(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.I162_Y163delIY(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TGACTGCTTGTAGATGGCCAT 0.622000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 13 51 0 0 1 0 0 OBSL1 23363 broad.mit.edu 37 2 220432561 220432561 + Missense_Mutation SNP G G C TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr2:220432561G>C ENST00000404537.1 - 3 1469 c.1413C>G c.(1411-1413)atC>atG p.I471M OBSL1_ENST00000373873.4_Missense_Mutation_p.I471M|OBSL1_ENST00000265318.4_Missense_Mutation_p.I471M|OBSL1_ENST00000373876.1_Missense_Mutation_p.I471M|OBSL1_ENST00000603926.1_Missense_Mutation_p.I471M|OBSL1_ENST00000289656.3_Missense_Mutation_p.I58M NM_015311.2 NP_056126.1 O75147 OBSL1_HUMAN obscurin-like 1 471 cardiac myofibril assembly intercalated disc|M band|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) TGCTCTGGCAGATGACCGGCA 0.627000 4 42 0 0 1 0 0 EPHB1 2047 broad.mit.edu 37 3 134960105 134960105 + Missense_Mutation SNP G G A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr3:134960105G>A ENST00000398015.3 + 13 2832 c.2462G>A c.(2461-2463)gGa>gAa p.G821E EPHB1_ENST00000493838.1_Missense_Mutation_p.G382E NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 821 Protein kinase. 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 ATGTCATTTGGAGAGAGACCC 0.522000 49 232 0 0 1 0 0 FGD6 55785 broad.mit.edu 37 12 95488418 95488418 + Missense_Mutation SNP C C G TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr12:95488418C>G ENST00000343958.4 - 15 3773 c.3550G>C c.(3550-3552)Gag>Cag p.E1184Q FGD6_ENST00000549499.1_Missense_Mutation_p.E1184Q|FGD6_ENST00000546711.1_Missense_Mutation_p.E1184Q NM_018351.3 NP_060821.3 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 1184 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 TTGGCATACTCTTCTATTGCC 0.388000 20 86 0 0 1 0 0 KANK2 25959 broad.mit.edu 37 19 11280795 11280795 + Nonsense_Mutation SNP C C A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr19:11280795C>A ENST00000432929.2 - 11 2725 c.2365G>T c.(2365-2367)Gag>Tag p.E789* KANK2_ENST00000586659.1_Nonsense_Mutation_p.E781*|KANK2_ENST00000587317.1_5'UTR|KANK2_ENST00000589894.1_Nonsense_Mutation_p.E781*|KANK2_ENST00000355150.5_Nonsense_Mutation_p.E781*|KANK2_ENST00000589359.1_Nonsense_Mutation_p.E789* NM_001136191.2 NP_001129663.1 Q63ZY3 KANK2_HUMAN KN motif and ankyrin repeat domains 2 781 endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 TGGCCGTGCTCACAGGCGCAC 0.647000 18 88 1.02788e-11 1.09774e-11 1 1 0 FANCI 55215 broad.mit.edu 37 15 89804048 89804048 + Missense_Mutation SNP G G C TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr15:89804048G>C ENST00000310775.7 + 4 348 c.262G>C c.(262-264)Gag>Cag p.E88Q FANCI_ENST00000451393.2_5'UTR|FANCI_ENST00000300027.8_Missense_Mutation_p.E88Q|FANCI_ENST00000567996.1_Missense_Mutation_p.E88Q NM_001113378.1 NP_001106849.1 Q9NVI1 FANCI_HUMAN Fanconi anemia, complementation group I 88 cell cycle|DNA repair nucleoplasm protein binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Lung NSC(78;0.0472)|all_lung(78;0.089) AATAGCGTCTGAGATCATAGG 0.428000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 50 109 0 0 1 0 0 TBL1Y 90665 broad.mit.edu 37 Y 6955318 6955318 + Missense_Mutation SNP G G C TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chrY:6955318G>C ENST00000383032.1 + 17 1938 c.1291G>C c.(1291-1293)Gat>Cat p.D431H TBL1Y_ENST00000346432.3_Missense_Mutation_p.D431H|TBL1Y_ENST00000355162.2_Missense_Mutation_p.D431H NM_033284.1 NP_150600.1 Q9BQ87 TBL1Y_HUMAN transducin (beta)-like 1, Y-linked 431 transcription, DNA-dependent kidney(1)|large_intestine(4)|lung(2)|skin(1) 8 TGCTTCATTTGATTCTACAGT 0.468000 13 11 0 0 1 0 0 CYP17A1 1586 broad.mit.edu 37 10 104592419 104592419 + Missense_Mutation SNP C C T rs142037395 byFrequency TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr10:104592419C>T ENST00000369887.3 - 6 1159 c.988G>A c.(988-990)Gag>Aag p.E330K NM_000102.3 NP_000093.1 P05093 CP17A_HUMAN cytochrome P450, family 17, subfamily A, polypeptide 1 330 Missing (in AH5; complete loss of both 17alpha-hydroxylase and 17,20-lyase activities). androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process endoplasmic reticulum membrane electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 18 Colorectal(252;0.122)|all_hematologic(284;0.152) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) NADH(DB00157)|Progesterone(DB00396) TCAATCTCCTCGTAGAGCTTC 0.532000 12 82 0 0 1 0 0 AFF3 3899 broad.mit.edu 37 2 100199295 100199295 + Missense_Mutation SNP C C T TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr2:100199295C>T ENST00000317233.4 - 16 2993 c.2758G>A c.(2758-2760)Gac>Aac p.D920N AFF3_ENST00000409236.1_Missense_Mutation_p.D920N|AFF3_ENST00000356421.2_Missense_Mutation_p.D945N|AFF3_ENST00000409579.1_Missense_Mutation_p.D945N NM_002285.2 NP_002276.2 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 920 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 AGCTGGCTGTCGGCCTTAGGC 0.483000 19 74 0 0 1 0 0 GNL2 29889 broad.mit.edu 37 1 38033324 38033324 + Nonsense_Mutation SNP C C A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr1:38033324C>A ENST00000373062.3 - 15 2091 c.1993G>T c.(1993-1995)Gag>Tag p.E665* GNL2_ENST00000462812.1_5'UTR NM_013285.2 NP_037417.1 Q13823 NOG2_HUMAN guanine nucleotide binding protein-like 2 (nucleolar) 665 ribosome biogenesis nucleolus GTP binding|GTPase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 30 Myeloproliferative disorder(586;0.0393) TCCTGTTCCTCTTCCCTTTGT 0.393000 22 74 1.10923e-09 1.17323e-09 1 1 0 SPRED2 200734 broad.mit.edu 37 2 65540957 65540957 + Missense_Mutation SNP C C T TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr2:65540957C>T ENST00000356388.4 - 6 1124 c.935G>A c.(934-936)tGc>tAc p.C312Y SPRED2_ENST00000443619.2_Missense_Mutation_p.C309Y NM_181784.2 NP_861449.2 Q7Z698 SPRE2_HUMAN sprouty-related, EVH1 domain containing 2 312 SPR. inactivation of MAPK activity|multicellular organismal development transport vesicle membrane stem cell factor receptor binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3) 34 CATGTCCCTGCAGTACACGCA 0.692000 30 104 0 0 1 0 0 EIF5A 1984 broad.mit.edu 37 17 7214764 7214764 + Missense_Mutation SNP G G C TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr17:7214764G>C ENST00000336458.8 + 4 767 c.366G>C c.(364-366)gaG>gaC p.E122D EIF5A_ENST00000573542.1_Missense_Mutation_p.E122D|EIF5A_ENST00000571955.1_Missense_Mutation_p.E122D|EIF5A_ENST00000416016.2_Missense_Mutation_p.E122D|GPS2_ENST00000391950.3_3'UTR|EIF5A_ENST00000576930.1_Missense_Mutation_p.E122D|EIF5A_ENST00000572815.1_Missense_Mutation_p.E122D|EIF5A_ENST00000336452.7_Missense_Mutation_p.E152D|EIF5A_ENST00000419711.2_Missense_Mutation_p.E122D NM_001970.4 NP_001961.1 P63241 IF5A1_HUMAN eukaryotic translation initiation factor 5A 122 induction of apoptosis|mRNA export from nucleus|peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein export from nucleus|translational frameshifting|transmembrane transport annulate lamellae|cytosol|endoplasmic reticulum membrane|nuclear pore protein N-terminus binding|ribosome binding|translation elongation factor activity|U6 snRNA binding endometrium(2)|kidney(1)|large_intestine(2)|urinary_tract(1) 6 TTGGCAAGGAGATTGAGCAGA 0.557000 30 92 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 5 49 0 0 1 0 0 MYH9 4627 broad.mit.edu 37 22 36745252 36745252 + Silent SNP G G C TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr22:36745252G>C ENST00000216181.5 - 2 260 c.30C>G c.(28-30)ctC>ctG p.L10L MYH9_ENST00000401701.1_Silent_p.L10L NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 10 Myosin head-like. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 TATCCACATAGAGATACTTAT 0.522000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 10 36 0 0 1 0 0 SIDT1 54847 broad.mit.edu 37 3 113327031 113327031 + Silent SNP G G A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr3:113327031G>A ENST00000264852.4 + 16 2295 c.1569G>A c.(1567-1569)cgG>cgA p.R523R SIDT1_ENST00000463226.1_3'UTR|SIDT1_ENST00000393830.3_Silent_p.R523R NM_017699.2 NP_060169.2 Q9NXL6 SIDT1_HUMAN SID1 transmembrane family, member 1 523 integral to membrane breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 TCCTCCATCGGAGAGCCCTGG 0.542000 19 83 0 0 1 0 0 RLTPR 146206 broad.mit.edu 37 16 67680212 67680212 + Splice_Site SNP G G C TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr16:67680212G>C ENST00000334583.6 + 5 701 c.374_splice c.e5+1 p.G125_splice RLTPR_ENST00000545661.1_Splice_Site_p.G125_splice NM_001013838.1 NP_001013860.1 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing 125 breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2) 18 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) CTCGACCCTTGGGTGAGGCCT 0.637000 8 31 0 0 1 0 0 ITGA4 3676 broad.mit.edu 37 2 182386960 182386960 + Missense_Mutation SNP G G C TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr2:182386960G>C ENST00000397033.2 + 18 2395 c.1965G>C c.(1963-1965)aaG>aaC p.K655N NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 655 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) GGAGTATGAAGACATTGATGT 0.328000 38 47 0 0 1 0 0 MORC2 22880 broad.mit.edu 37 22 31337485 31337485 + Missense_Mutation SNP C C A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr22:31337485C>A ENST00000215862.4 - 10 1936 c.573G>T c.(571-573)atG>atT p.M191I MORC2_ENST00000469915.1_5'UTR|MORC2_ENST00000397641.2_Missense_Mutation_p.M253I NM_014941.1 NP_055756.1 Q9Y6X9 MORC2_HUMAN MORC family CW-type zinc finger 2 253 ATP binding|zinc ion binding breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 21 TGAAGATCCTCATCCGGGGAT 0.597000 16 35 6.31663e-08 6.64908e-08 1 1 0 ME3 10873 broad.mit.edu 37 11 86382833 86382833 + Missense_Mutation SNP C C A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr11:86382833C>A ENST00000543262.1 - 2 480 c.154G>T c.(154-156)Gat>Tat p.D52Y ME3_ENST00000393324.3_Missense_Mutation_p.D52Y|ME3_ENST00000359636.2_Missense_Mutation_p.D52Y NM_001161586.1 NP_001155058.1 Q16798 MAON_HUMAN malic enzyme 3, NADP(+)-dependent, mitochondrial 52 aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process mitochondrial matrix malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1) 27 Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252) NADH(DB00157) CTGGTGACATCGTATCCGCGC 0.701000 15 28 5.35267e-07 5.60756e-07 1 1 0 APOB 338 broad.mit.edu 37 2 21247865 21247865 + Silent SNP G G C TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr2:21247865G>C ENST00000233242.1 - 16 2503 c.2376C>G c.(2374-2376)ctC>ctG p.L792L APOB_ENST00000399256.4_Silent_p.L792L NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 792 LQLLGKLLLMGARTLQGI -> SSSWKAASHGCPHSAGD (in Ref. 12; AAA51759). cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CCAGGAGCTGGAGGTCATGGA 0.567000 19 78 0 0 1 0 0 CNGA2 1260 broad.mit.edu 37 X 150912215 150912215 + Missense_Mutation SNP G G C TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chrX:150912215G>C ENST00000329903.4 + 6 1273 c.1240G>C c.(1240-1242)Gac>Cac p.D414H NM_005140.1 NP_005131.1 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 414 response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2) 49 Acute lymphoblastic leukemia(192;6.56e-05) TAGGTGGTTTGACTACTTGTG 0.502000 15 21 0 0 1 0 0 ARFGAP3 26286 broad.mit.edu 37 22 43213818 43213818 + Missense_Mutation SNP C C T TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr22:43213818C>T ENST00000263245.5 - 10 1077 c.858G>A c.(856-858)atG>atA p.M286I ARFGAP3_ENST00000429508.2_Missense_Mutation_p.M214I|ARFGAP3_ENST00000437119.2_Missense_Mutation_p.M242I NM_001142293.1|NM_014570.4 NP_001135765.1|NP_055385.3 Q9NP61 ARFG3_HUMAN ADP-ribosylation factor GTPase activating protein 3 286 intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport cytosol|Golgi membrane ARF GTPase activator activity|protein transporter activity|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1) 11 cgtctttcttcatttgaattt 0.343000 20 95 0 0 1 0 0 ZNF252P 286101 broad.mit.edu 37 8 146220446 146220446 + RNA SNP G G A rs4489360 by1000genomes TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr8:146220446G>A ENST00000426361.2 - 0 245 NR_023392.1 endometrium(1) 1 TGGCACATACGAGATCTCTGA 0.502000 3 37 0 0 1 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971121 21971121 + Missense_Mutation SNP G G A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr9:21971121G>A ENST00000579755.1 - 2 572 c.280C>T c.(280-282)Ccg>Tcg p.P94S CDKN2A_ENST00000446177.1_Silent_p.T79T|CDKN2A_ENST00000479692.2_Silent_p.T28T|CDKN2A_ENST00000498124.1_Silent_p.T79T|CDKN2A_ENST00000498628.2_Silent_p.T28T|CDKN2A_ENST00000304494.5_Silent_p.T79T|CDKN2A_ENST00000494262.1_Silent_p.T28T|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94S|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135S|CDKN2A_ENST00000497750.1_Silent_p.T28T|CDKN2A_ENST00000579122.1_Silent_p.T79T|CDKN2A_ENST00000578845.2_Silent_p.T28T P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 0 L -> Q (in CMM2). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(44)|p.R80*(9)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.T79T(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) GCACGGGTCGGGTGAGAGTGG 0.731000 R80*(MEWO_SKIN) 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 6 9 0 0 1 0 0 AKAP6 9472 broad.mit.edu 37 14 33291302 33291302 + Missense_Mutation SNP C C T TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr14:33291302C>T ENST00000280979.4 + 13 4453 c.4283C>T c.(4282-4284)tCg>tTg p.S1428L AKAP6_ENST00000557272.1_Intron NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 1428 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) AGCTCTCAGTCGTCCATTTCA 0.398000 9 58 0 0 1 0 0 BBX 56987 broad.mit.edu 37 3 107474523 107474523 + Missense_Mutation SNP G G A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr3:107474523G>A ENST00000415149.2 + 10 1231 c.904G>A c.(904-906)Gag>Aag p.E302K BBX_ENST00000416476.2_Missense_Mutation_p.E302K|BBX_ENST00000406780.1_Missense_Mutation_p.E302K|BBX_ENST00000325805.8_Missense_Mutation_p.E302K|BBX_ENST00000402543.1_Missense_Mutation_p.E302K NM_001142568.1|NM_020235.5 NP_001136040.1|NP_064620.2 Q8WY36 BBX_HUMAN bobby sox homolog (Drosophila) 302 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2) 49 OV - Ovarian serous cystadenocarcinoma(3;0.112) TCAACTGGCAGAGGCAAGTTC 0.398000 21 68 0 0 1 0 0 TDRD10 126668 broad.mit.edu 37 1 154492809 154492809 + Missense_Mutation SNP C C G TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr1:154492809C>G ENST00000368482.4 + 5 1009 c.171C>G c.(169-171)ttC>ttG p.F57L TDRD10_ENST00000368480.3_Missense_Mutation_p.F57L NM_001098475.1|NM_182499.3 NP_001091945.1|NP_872305.3 Q5VZ19 TDR10_HUMAN tudor domain containing 10 57 RRM. nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) TAAAGGACTTCAACCCTCTTG 0.423000 12 53 0 0 1 0 0 RIF1 55183 broad.mit.edu 37 2 152318772 152318772 + Missense_Mutation SNP A A T TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr2:152318772A>T ENST00000243326.4 + 27 3727 c.3244A>T c.(3244-3246)Atg>Ttg p.M1082L RIF1_ENST00000444746.2_Missense_Mutation_p.M1082L|RIF1_ENST00000453091.2_Missense_Mutation_p.M1082L|RIF1_ENST00000430328.2_Missense_Mutation_p.M1082L|RIF1_ENST00000428287.2_Missense_Mutation_p.M1082L Q5UIP0 RIF1_HUMAN RAP1 interacting factor homolog (yeast) 1082 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 97 BRCA - Breast invasive adenocarcinoma(221;0.0429) TATTCCTGCCATGTATAATAA 0.333000 20 29 0 0 1 0 0 WDR81 124997 broad.mit.edu 37 17 1634142 1634142 + Translation_Start_Site SNP T T G TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr17:1634142T>G ENST00000545662.1 + 0 121 RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000446363.1_De_novo_Start_InFrame|WDR81_ENST00000437219.2_Missense_Mutation_p.I87S|WDR81_ENST00000309182.5_Missense_Mutation_p.I239S|WDR81_ENST00000409644.1_Missense_Mutation_p.I1290S|WDR81_ENST00000419248.1_Missense_Mutation_p.I63S B3KXU1 B3KXU1_HUMAN WD repeat domain 81 cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1) 16 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) CTGGGCGACATCGTGTCAGGG 0.642000 16 54 0 0 1 0 0 GPR149 344758 broad.mit.edu 37 3 154147161 154147161 + Missense_Mutation SNP C C T TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr3:154147161C>T ENST00000389740.2 - 1 343 c.244G>A c.(244-246)Gtc>Atc p.V82I NM_001038705.1 NP_001033794.1 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 82 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) ACCGACAGGACGCTCATGAGA 0.478000 7 94 0 0 1 0 0 SPATA31D5P 347127 broad.mit.edu 37 9 84531446 84531446 + RNA SNP A A G TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr9:84531446A>G ENST00000527857.1 + 0 1468 NR_026851.1 GCCAGTAAAGACAGACTAGAA 0.443000 3 3 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10427801 10427801 + Silent SNP A A G TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr17:10427801A>G ENST00000245503.5 - 35 5541 c.5157T>C c.(5155-5157)gtT>gtC p.V1719V MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Silent_p.V1719V|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1719 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 GCAGTAGCTGAACACGCTCAC 0.493000 23 77 0 0 1 0 0 SPRY4 81848 broad.mit.edu 37 5 141694466 141694466 + Missense_Mutation SNP C C T TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr5:141694466C>T ENST00000344120.4 - 3 463 c.277G>A c.(277-279)Ggg>Agg p.G93R SPRY4_ENST00000434127.2_Missense_Mutation_p.G70R NM_030964.3 NP_112226.2 Q9C004 SPY4_HUMAN sprouty homolog 4 (Drosophila) 70 multicellular organismal development cytoplasm|ruffle membrane protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1) 18 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTGGGGCCCCGCCCCGGGTC 0.652000 Testicular Cancer, Familial Clustering of 10 45 0 0 1 0 0 NGEF 25791 broad.mit.edu 37 2 233759519 233759519 + Silent SNP G G A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr2:233759519G>A ENST00000264051.3 - 6 1214 c.936C>T c.(934-936)tcC>tcT p.S312S NGEF_ENST00000373552.4_Silent_p.S220S|NGEF_ENST00000409079.1_Silent_p.S220S|NGEF_ENST00000539537.1_Silent_p.S35S NM_019850.2 NP_062824.2 Q8N5V2 NGEF_HUMAN neuronal guanine nucleotide exchange factor 312 DH. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|growth cone|plasma membrane Rho guanyl-nucleotide exchange factor activity central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4) 35 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604) TGTGCGCCTCGGACGGGTGCA 0.607000 23 58 0 0 1 0 0 GALNT3 2591 broad.mit.edu 37 2 166615334 166615334 + Missense_Mutation SNP C C G TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr2:166615334C>G ENST00000392701.3 - 6 1889 c.1114G>C c.(1114-1116)Gaa>Caa p.E372Q GALNT3_ENST00000409882.1_Missense_Mutation_p.E110Q NM_004482.3 NP_004473.2 Q14435 GALT3_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3) 372 Catalytic subdomain B. protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1) 20 TCAAAATATTCTTTTGATATG 0.284000 21 68 0 0 1 0 0 KANK1 23189 broad.mit.edu 37 9 713055 713055 + Silent SNP G G A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr9:713055G>A ENST00000382303.1 + 7 2941 c.2289G>A c.(2287-2289)caG>caA p.Q763Q KANK1_ENST00000382293.3_Silent_p.Q605Q|KANK1_ENST00000382297.2_Silent_p.Q763Q|KANK1_ENST00000489369.1_3'UTR NM_001256876.1 NP_001243805.1 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 763 negative regulation of actin filament polymerization cytoplasm autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1) 43 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) GTGTGGGGCAGATAAATATTA 0.517000 23 65 0 0 1 0 0 HCN3 57657 broad.mit.edu 37 1 155255061 155255061 + Missense_Mutation SNP G G A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr1:155255061G>A ENST00000368358.3 + 5 1203 c.1195G>A c.(1195-1197)Gag>Aag p.E399K HCN3_ENST00000496230.1_3'UTR NM_020897.1 NP_065948.1 Q9P1Z3 HCN3_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 3 399 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) GATGTTCGATGAGGAAAGCAT 0.627000 8 37 0 0 1 0 0 HRAS 3265 broad.mit.edu 37 11 534289 534289 + Missense_Mutation SNP C C T rs104894229 TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr11:534289C>T ENST00000417302.1 - 2 221 c.34G>A c.(34-36)Ggc>Agc p.G12S HRAS_ENST00000311189.7_Missense_Mutation_p.G12S|HRAS_ENST00000451590.1_Missense_Mutation_p.G12S|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.G12S|HRAS_ENST00000397594.1_Missense_Mutation_p.G12S NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 12 G -> A (in FCSS).|G -> C (in FCSS).|G -> E (in FCSS).|G -> S (in FCSS, OSCC and CMEMS).|G -> V (in FCSS, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.G12S(58)|p.G12C(25)|p.G12R(12) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-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;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) CCCACACCGCCGGCGCCCACC 0.647000 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 44 40 0 0 1 0 0 SNORD3A 780851 broad.mit.edu 37 17 19091407 19091407 + RNA SNP C C G TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr17:19091407C>G ENST00000365494.1 + 0 79 ccgaaaaccacgaggaagaga 0.493000 24 632 0 0 1 0 0 MBD5 55777 broad.mit.edu 37 2 149247890 149247890 + Silent SNP C C G TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr2:149247890C>G ENST00000407073.1 + 12 4987 c.3990C>G c.(3988-3990)gtC>gtG p.V1330V MBD5_ENST00000404807.1_Silent_p.V1563V NM_018328.4 NP_060798.2 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 1330 chromosome|nucleus chromatin binding|DNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) ATTCTCTGGTCAAAGACTACA 0.448000 5 68 0 0 1 0 0 BFSP2 8419 broad.mit.edu 37 3 133119350 133119350 + Silent SNP G G A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr3:133119350G>A ENST00000302334.2 + 1 512 c.423G>A c.(421-423)gaG>gaA p.E141E NM_003571.2 NP_003562.1 Q13515 BFSP2_HUMAN beaded filament structural protein 2, phakinin 141 Rod. response to stimulus|visual perception cytoplasm|intermediate filament|membrane structural constituent of cytoskeleton|structural constituent of eye lens NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1) 13 TGCACCTGGAGAGCAAAGCCA 0.597000 9 35 0 0 1 0 0 HOXB8 3218 broad.mit.edu 37 17 46690733 46690733 + Missense_Mutation SNP C C T TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr17:46690733C>T ENST00000239144.4 - 2 797 c.563G>A c.(562-564)aGa>aAa p.R188K HOXB8_ENST00000576562.1_Missense_Mutation_p.R187K|HOXB7_ENST00000567101.1_Intron NM_024016.3 NP_076921.1 P17481 HXB8_HUMAN homeobox B8 188 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(8)|urinary_tract(2) 11 TTTGACCTGTCTCTCTGTCAG 0.522000 15 98 0 0 1 0 0 CASP8 841 broad.mit.edu 37 2 202137385 202137385 + Missense_Mutation SNP A A G TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr2:202137385A>G ENST00000358485.4 + 4 809 c.613A>G c.(613-615)Atg>Gtg p.M205V CASP8_ENST00000264274.9_Missense_Mutation_p.M146V|CASP8_ENST00000392258.3_Missense_Mutation_p.M146V|CASP8_ENST00000392259.2_Missense_Mutation_p.M146V|CASP8_ENST00000432109.2_Missense_Mutation_p.M146V|CASP8_ENST00000323492.7_Missense_Mutation_p.M146V|CASP8_ENST00000264275.5_Missense_Mutation_p.M178V|CASP8_ENST00000392266.3_Missense_Mutation_p.M146V NM_001080125.1 NP_001073594.1 Q14790 CASP8_HUMAN caspase 8, apoptosis-related cysteine peptidase 146 activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3) 52 TTTCATAGAGATGGAGAAGAG 0.393000 HNSCC(4;0.00038) 56 73 0 0 1 0 0 C5orf42 65250 broad.mit.edu 37 5 37162628 37162628 + Silent SNP G G A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr5:37162628G>A ENST00000274258.7 - 38 7856 c.4269C>T c.(4267-4269)ttC>ttT p.F1423F C5orf42_ENST00000425232.2_Silent_p.F2543F|C5orf42_ENST00000508244.1_Silent_p.F2543F E9PH94 E9PH94_HUMAN chromosome 5 open reading frame 42 2543 breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 79 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) CAGAGGCCATGAAATGCAATC 0.318000 15 65 0 0 1 0 0 PPP4R1 9989 broad.mit.edu 37 18 9559477 9559477 + Silent SNP G G A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr18:9559477G>A ENST00000400556.3 - 14 2041 c.1968C>T c.(1966-1968)ctC>ctT p.L656L PPP4R1_ENST00000400555.3_Silent_p.L639L NM_001042388.2 NP_001035847.1 Q8TF05 PP4R1_HUMAN protein phosphatase 4, regulatory subunit 1 656 protein phosphorylation|signal transduction protein phosphatase 4 complex protein binding|protein phosphatase type 4 regulator activity large_intestine(1)|skin(2) 3 TCTGTCTTCCGAGTGTCAAGG 0.478000 7 192 0 0 1 0 0 NID1 4811 broad.mit.edu 37 1 236189232 236189232 + Missense_Mutation SNP G G A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr1:236189232G>A ENST00000264187.6 - 8 2030 c.1948C>T c.(1948-1950)Cgc>Tgc p.R650C NID1_ENST00000366595.3_Missense_Mutation_p.R650C NM_002508.2 NP_002499.2 P14543 NID1_HUMAN nidogen 1 650 Nidogen G2 beta-barrel. cell-matrix adhesion basement membrane calcium ion binding breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) AGAGCATAGCGCAAGATCTTC 0.572000 44 182 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 4247876 4247876 + Missense_Mutation SNP G G A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr7:4247876G>A ENST00000404826.2 + 37 5499 c.5360G>A c.(5359-5361)gGa>gAa p.G1787E SDK1_ENST00000389531.3_Missense_Mutation_p.G1767E NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 1787 Fibronectin type-III 11. cell adhesion integral to membrane p.G1787V(1) NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) GCCGGAGATGGACCTAAGAGT 0.617000 11 42 0 0 1 0 0 KIT 3815 broad.mit.edu 37 4 55565907 55565907 + Nonsense_Mutation SNP C C G TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr4:55565907C>G ENST00000288135.5 + 4 828 c.731C>G c.(730-732)tCa>tGa p.S244* NM_000222.2|NM_001093772.1 NP_000213.1|NP_001087241.1 P10721 KIT_HUMAN v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog 244 Ig-like C2-type 3. male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway extracellular space|integral to membrane ATP binding|protein binding|receptor signaling protein tyrosine kinase activity NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1) 6411 all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209) Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171) Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) TCTGTGTACTCAACGTGGAAA 0.428000 1 """Mis, O""" """GIST, AML, TGCT, mastocytosis, mucosal melanoma""" """GIST, epithelioma""" Piebald trait Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors 24 99 0 0 1 0 0 TTC37 9652 broad.mit.edu 37 5 94820490 94820490 + Nonsense_Mutation SNP G G A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr5:94820490G>A ENST00000358746.2 - 38 4289 c.3991C>T c.(3991-3993)Caa>Taa p.Q1331* NM_014639.3 NP_055454.1 Q6PGP7 TTC37_HUMAN tetratricopeptide repeat domain 37 1331 binding breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 47 GTGACAGCTTGTGAGAGAGAC 0.348000 16 66 0 0 1 0 0 PLG 5340 broad.mit.edu 37 6 161128754 161128754 + Missense_Mutation SNP G G C TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr6:161128754G>C ENST00000308192.9 + 3 271 c.208G>C c.(208-210)Gag>Cag p.E70Q PLG_ENST00000462918.1_3'UTR|PLG_ENST00000366924.2_Missense_Mutation_p.E70Q NM_000301.3 NP_000292.1 P00747 PLMN_HUMAN plasminogen 70 PAN. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) TCACAGTAAAGAGCAACAATG 0.318000 30 152 0 0 1 0 0 EXTL1 2134 broad.mit.edu 37 1 26349536 26349536 + Silent SNP C C T TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr1:26349536C>T ENST00000374280.3 + 1 1266 c.399C>T c.(397-399)ctC>ctT p.L133L NM_004455.2 NP_004446.2 Q92935 EXTL1_HUMAN exostosin-like glycosyltransferase 1 133 skeletal system development integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1) 23 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649) GGGCCTGCCTCCTCCTCCTCC 0.607000 13 63 0 0 1 0 0 CLMN 79789 broad.mit.edu 37 14 95670430 95670430 + Missense_Mutation SNP G G A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr14:95670430G>A ENST00000298912.4 - 9 1369 c.1256C>T c.(1255-1257)tCt>tTt p.S419F NM_024734.3 NP_079010.2 Q96JQ2 CLMN_HUMAN calmin (calponin-like, transmembrane) 419 integral to membrane actin binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3) 44 Epithelial(152;0.193) GATCGGCAAAGAGTTGGACCT 0.507000 23 120 0 0 1 0 0 RAD21 5885 broad.mit.edu 37 8 117868516 117868516 + Missense_Mutation SNP C C G TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr8:117868516C>G ENST00000297338.2 - 8 1113 c.826G>C c.(826-828)Gat>Cat p.D276H NM_006265.2 NP_006256.1 O60216 RAD21_HUMAN RAD21 homolog (S. pombe) 276 apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm protein binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1) 32 all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172) TCAGGACTATCAGGCCCACCC 0.378000 37 63 0 0 1 0 0 F2 2147 broad.mit.edu 37 11 46748086 46748086 + Missense_Mutation SNP G G A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr11:46748086G>A ENST00000311907.5 + 8 969 c.913G>A c.(913-915)Gag>Aag p.E305K F2_ENST00000530231.1_Missense_Mutation_p.E305K NM_000506.3 NP_000497.1 P00734 THRB_HUMAN coagulation factor II (thrombin) 305 activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 27 all_lung(304;0.000414)|Lung NSC(402;0.0011) BRCA - Breast invasive adenocarcinoma(625;0.146) Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898) TGGGCTGGATGAGGACTCAGA 0.617000 13 47 0 0 1 0 0 C2orf43 60526 broad.mit.edu 37 2 20990107 20990107 + Missense_Mutation SNP G G C rs36063668 byFrequency TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr2:20990107G>C ENST00000237822.3 - 3 285 c.206C>G c.(205-207)tCt>tGt p.S69C C2orf43_ENST00000403006.2_5'UTR|C2orf43_ENST00000381090.3_Missense_Mutation_p.S69C|C2orf43_ENST00000419825.2_Missense_Mutation_p.S69C|C2orf43_ENST00000541941.1_5'UTR|C2orf43_ENST00000435420.2_Intron|C2orf43_ENST00000440866.2_Missense_Mutation_p.S69C NM_021925.2 NP_068744.1 Q9H6V9 CB043_HUMAN chromosome 2 open reading frame 43 69 endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1) 6 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTTTGTCAAAGAGTATAAAGC 0.408000 27 81 0 0 1 0 0 ENPP5 59084 broad.mit.edu 37 6 46129474 46129474 + Silent SNP G G A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr6:46129474G>A ENST00000371383.2 - 5 1283 c.1023C>T c.(1021-1023)taC>taT p.Y341Y ENPP5_ENST00000230565.3_Silent_p.Y341Y Q9UJA9 ENPP5_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative) 341 extracellular region|integral to membrane hydrolase activity endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 12 ACGCATTATCGTAACCGTGGT 0.363000 29 230 0 0 1 0 0 OR13J1 392309 broad.mit.edu 37 9 35870144 35870144 + Silent SNP G G A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr9:35870144G>A ENST00000377981.2 - 1 317 c.255C>T c.(253-255)ctC>ctT p.L85L NM_001004487.1 NP_001004487.1 Q8NGT2 O13J1_HUMAN olfactory receptor, family 13, subfamily J, member 1 85 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1) 6 all_epithelial(49;0.169) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194) GGGATGACAGGAGGTGGACCA 0.587000 14 55 0 0 1 0 0 USP11 8237 broad.mit.edu 37 X 47107270 47107270 + Missense_Mutation SNP G G T TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chrX:47107270G>T ENST00000377107.2 + 21 3058 c.2704G>T c.(2704-2706)Gcc>Tcc p.A902S USP11_ENST00000218348.3_Missense_Mutation_p.A945S P51784 UBP11_HUMAN ubiquitin specific peptidase 11 945 protein deubiquitination|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1) 40 CTCATCTGGCGCCCCAGCCTC 0.602000 10 7 1.33987e-11 1.42402e-11 1 1 0 TP53 7157 broad.mit.edu 37 17 7579521 7579521 + Nonsense_Mutation SNP C C A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr17:7579521C>A ENST00000420246.2 - 4 298 c.166G>T c.(166-168)Gaa>Taa p.E56* TP53_ENST00000269305.4_Nonsense_Mutation_p.E56*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E56*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E56*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E56*|TP53_ENST00000413465.2_Nonsense_Mutation_p.E56* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 56 Interaction with HRMT1L2. E -> K (in sporadic cancers; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.E56*(7)|p.E56K(3)|p.E56fs*73(3)|p.E51fs*59(1)|p.Q52fs*67(1)|p.D48fs*55(1)|p.E56fs*67(1)|p.P13fs*18(1)|p.S33fs*23(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CCTGGGTCTTCAGTGAACCAT 0.597000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 46 201 6.34439e-16 6.87569e-16 1 1 0 ZNF257 113835 broad.mit.edu 37 19 22272184 22272184 + Missense_Mutation SNP A A T TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr19:22272184A>T ENST00000594947.1 + 4 1776 c.1632A>T c.(1630-1632)aaA>aaT p.K544N NM_033468.2 NP_258429.2 Q9Y2Q1 ZN257_HUMAN zinc finger protein 257 544 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|lung(4) 6 all_lung(12;0.0961)|Lung NSC(12;0.103) ACCCCAACAAATATGAAGAAT 0.373000 5 25 0 0 1 0 0 NCOA3 8202 broad.mit.edu 37 20 46271097 46271097 + Missense_Mutation SNP G G A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr20:46271097G>A ENST00000372004.3 + 17 3437 c.3221G>A c.(3220-3222)aGa>aAa p.R1074K NCOA3_ENST00000341724.6_Missense_Mutation_p.R1004K|NCOA3_ENST00000371997.3_Missense_Mutation_p.R1069K|NCOA3_ENST00000371998.3_Missense_Mutation_p.R1074K NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 1074 Interaction with CREBBP. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GAAATTGACAGAGCTTTGGGC 0.478000 4 35 0 0 1 0 0 STAT1 6772 broad.mit.edu 37 2 191835441 191835441 + Missense_Mutation SNP C C T TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr2:191835441C>T ENST00000361099.3 - 25 2628 c.2241G>A c.(2239-2241)atG>atA p.M747I STAT1_ENST00000409465.1_Missense_Mutation_p.M747I|STAT1_ENST00000540176.1_3'UTR NM_007315.3 NP_009330.1 P42224 STAT1_HUMAN signal transducer and activator of transcription 1, 91kDa 747 activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein cytosol|nucleolus|nucleoplasm calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141) Fludarabine(DB01073) ATACTGTGTTCATCTGTAAAA 0.363000 12 35 0 0 1 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102294648 102294648 + RNA SNP T T C TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr15:102294648T>C ENST00000561463.1 + 0 2694 TTCTCAGAGCTGCTGTCCAAC 0.587000 3 26 0 0 1 0 0 TDO2 6999 broad.mit.edu 37 4 156839325 156839325 + Missense_Mutation SNP G G A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr4:156839325G>A ENST00000536354.2 + 11 1065 c.1001G>A c.(1000-1002)aGa>aAa p.R334K NM_005651.3 NP_005642.1 P48775 T23O_HUMAN tryptophan 2,3-dioxygenase 334 tryptophan catabolic process to kynurenine cytosol tryptophan 2,3-dioxygenase activity breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 18 all_hematologic(180;0.24) Renal(120;0.0854) KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141) L-Tryptophan(DB00150) ATGGTGCACAGAATGCTGGGC 0.473000 19 56 0 0 1 0 0 ATXN2L 11273 broad.mit.edu 37 16 28842045 28842045 + Missense_Mutation SNP C C T TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr16:28842045C>T ENST00000336783.4 + 9 1311 c.1144C>T c.(1144-1146)Cgt>Tgt p.R382C ATXN2L_ENST00000570200.1_Missense_Mutation_p.R382C|ATXN2L_ENST00000325215.6_Missense_Mutation_p.R382C|ATXN2L_ENST00000564304.1_Missense_Mutation_p.R382C|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000395547.2_Missense_Mutation_p.R382C|ATXN2L_ENST00000382686.4_Missense_Mutation_p.R382C|ATXN2L_ENST00000340394.8_Missense_Mutation_p.R382C NM_007245.3 NP_009176.2 Q8WWM7 ATX2L_HUMAN ataxin 2-like 382 membrane p.R382C(2) breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 TTTGCCACCTCGTGGCCCTCA 0.612000 8 30 0 0 1 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971120 21971120 + Nonsense_Mutation SNP G G A rs121913388 TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr9:21971120G>A ENST00000304494.5 - 2 508 c.238C>T c.(238-240)Cga>Tga p.R80* CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29* NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 80 R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) TGCACGGGTCGGGTGAGAGTG 0.726000 R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN) 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 6 9 0 0 1 0 0 STAT1 6772 broad.mit.edu 37 2 191840560 191840560 + Missense_Mutation SNP C C T TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr2:191840560C>T ENST00000361099.3 - 23 2500 c.2113G>A c.(2113-2115)Gag>Aag p.E705K STAT1_ENST00000392323.2_Missense_Mutation_p.E707K|STAT1_ENST00000392322.3_Missense_Mutation_p.E705K|STAT1_ENST00000409465.1_Missense_Mutation_p.E705K|STAT1_ENST00000540176.1_3'UTR NM_007315.3 NP_009330.1 P42224 STAT1_HUMAN signal transducer and activator of transcription 1, 91kDa 705 activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein cytosol|nucleolus|nucleoplasm calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity p.E705K(1) autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141) Fludarabine(DB01073) GAAATCAACTCAGTCTTGATA 0.443000 4 48 0 0 1 0 0 HSPA13 6782 broad.mit.edu 37 21 15750622 15750622 + Missense_Mutation SNP C C T TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr21:15750622C>T ENST00000285667.3 - 3 545 c.478G>A c.(478-480)Gag>Aag p.E160K HSPA13_ENST00000544452.1_Intron NM_006948.4 NP_008879.3 P48723 HSP13_HUMAN heat shock protein 70kDa family, member 13 160 endoplasmic reticulum|microsome ATP binding NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 13 AGATATGCCTCTGCCATTTCC 0.403000 10 62 0 0 1 0 0 CARF 79800 broad.mit.edu 37 2 203846292 203846292 + Missense_Mutation SNP G G A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr2:203846292G>A ENST00000320443.8 + 14 2616 c.1573G>A c.(1573-1575)Gaa>Aaa p.E525K CARF_ENST00000414439.1_Missense_Mutation_p.E423K|CARF_ENST00000402905.2_Missense_Mutation_p.E525K|CARF_ENST00000545262.1_Missense_Mutation_p.E449K|WDR12_ENST00000477723.1_Intron|CARF_ENST00000428585.1_Missense_Mutation_p.E449K|CARF_ENST00000438828.2_Missense_Mutation_p.E525K|CARF_ENST00000545253.1_Missense_Mutation_p.E437K calcium responsive transcription factor TTCACCAGGAGAATCAATTAC 0.358000 16 25 0 0 1 0 0 BAK1 578 broad.mit.edu 37 6 33543100 33543100 + Missense_Mutation SNP C C T TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr6:33543100C>T ENST00000374467.3 - 4 573 c.325G>A c.(325-327)Gag>Aag p.E109K BAK1_ENST00000442998.2_Missense_Mutation_p.E109K|BAK1_ENST00000360661.5_Missense_Mutation_p.E109K NM_001188.3 NP_001179.1 Q16611 BAK_HUMAN BCL2-antagonist/killer 1 109 activation of pro-apoptotic gene products|cellular response to mechanical stimulus|cellular response to UV|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria integral to mitochondrial outer membrane|pore complex metal ion binding|protein heterodimerization activity large_intestine(1)|lung(1)|ovary(1)|skin(1) 4 GTGAAGTACTCATAGGCATTC 0.572000 9 58 0 0 1 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102294651 102294651 + RNA SNP T T G TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr15:102294651T>G ENST00000561463.1 + 0 2697 TCAGAGCTGCTGTCCAACCTG 0.587000 3 26 0 0 1 0 0 ALG11 440138 broad.mit.edu 37 13 52598374 52598374 + Missense_Mutation SNP G G A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr13:52598374G>A ENST00000521508.1 + 3 513 c.508G>A c.(508-510)Gat>Aat p.D170N ALG11_ENST00000523764.1_Intron|ALG11_ENST00000519151.1_3'UTR NM_001004127.2 NP_001004127.2 ALG11, alpha-1,2-mannosyltransferase endometrium(1)|large_intestine(6)|lung(4)|ovary(2) 13 Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;2.44e-08) GTGTGTTCCTGATGTTTACAT 0.423000 29 106 0 0 1 0 0 NUP88 4927 broad.mit.edu 37 17 5319905 5319905 + Missense_Mutation SNP A A T TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr17:5319905A>T ENST00000573584.1 - 2 904 c.395T>A c.(394-396)aTg>aAg p.M132K NM_002532.4 NP_002523.2 Q99567 NUP88_HUMAN nucleoporin 88kDa 132 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore transporter activity endometrium(4)|kidney(4)|large_intestine(4)|lung(3) 15 TTCTAATACCATAAGTCCTTT 0.338000 9 37 0 0 1 0 0 NFAT5 10725 broad.mit.edu 37 16 69726982 69726982 + Nonsense_Mutation SNP C C G TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr16:69726982C>G ENST00000349945.1 + 14 4524 c.2972C>G c.(2971-2973)tCa>tGa p.S991* NFAT5_ENST00000567239.1_Nonsense_Mutation_p.S1084*|NFAT5_ENST00000354436.2_Nonsense_Mutation_p.S1067*|NFAT5_ENST00000393742.2_Nonsense_Mutation_p.S991*|NFAT5_ENST00000432919.1_Nonsense_Mutation_p.S1085*|NFAT5_ENST00000566899.1_Nonsense_Mutation_p.S991* NM_138714.3 NP_619728.2 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5, tonicity-responsive 1067 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 TCTTCTCATTCACAGGCCCAA 0.413000 37 133 0 0 1 0 0 ARHGAP36 158763 broad.mit.edu 37 X 130220374 130220374 + Missense_Mutation SNP C C G TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chrX:130220374C>G ENST00000276211.5 + 10 1698 c.1353C>G c.(1351-1353)atC>atG p.I451M ARHGAP36_ENST00000370921.1_Missense_Mutation_p.I315M|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.I439M NM_144967.3 NP_659404.2 Q6ZRI8 RHG36_HUMAN Rho GTPase activating protein 36 451 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2) 71 TTGATTTTATCAGACGCAGGA 0.478000 24 28 0 0 1 0 0 MAMDC4 158056 broad.mit.edu 37 9 139749068 139749068 + Missense_Mutation SNP G G A rs142114032 TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr9:139749068G>A ENST00000445819.1 + 8 924 c.874G>A c.(874-876)Gct>Act p.A292T MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000317446.2_Missense_Mutation_p.A292T Q6UXC1 AEGP_HUMAN MAM domain containing 4 292 MAM 2. protein transport integral to membrane breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 19 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171) GAACCACCGCGCTGGTGGTCC 0.706000 8 18 0 0 1 0 0 DHX57 90957 broad.mit.edu 37 2 39088439 39088439 + Silent SNP G G A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr2:39088439G>A ENST00000295373.6 - 5 1239 c.1113C>T c.(1111-1113)ctC>ctT p.L371L DHX57_ENST00000479345.2_5'UTR NM_198963.1 NP_945314.1 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 371 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) AAAATGCCACGAGCGGAGCTT 0.378000 19 62 0 0 1 0 0 SLC8A3 6547 broad.mit.edu 37 14 70633834 70633834 + Missense_Mutation SNP C C G TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr14:70633834C>G ENST00000381269.2 - 2 2059 c.1306G>C c.(1306-1308)Gag>Cag p.E436Q SLC8A3_ENST00000534137.1_Missense_Mutation_p.E436Q|SLC8A3_ENST00000356921.2_Missense_Mutation_p.E436Q|SLC8A3_ENST00000528359.1_Missense_Mutation_p.E436Q|SLC8A3_ENST00000357887.3_Missense_Mutation_p.E436Q NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 436 Calx-beta 1. cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) GAACCATCCTCTGTTTTGTAG 0.522000 32 144 0 0 1 0 0 SERPINE1 5054 broad.mit.edu 37 7 100775249 100775252 + Frame_Shift_Del DEL CTCC CTCC - TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr7:100775249_100775252delCTCC ENST00000223095.4 + 4 756_759 c.599_602delCTCC c.(598-603)acfs p.TP200fs SERPINE1_ENST00000445463.2_Frame_Shift_Del_p.TP185fs NM_000602.4 NP_000593.1 P05121 PAI1_HUMAN serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 200 angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen protease binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3) 20 Lung NSC(181;0.136)|all_lung(186;0.182) Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013) CAGTGGAAGACTCCCTTCCCCGAC 0.564 21 215 --- --- --- --- RP11-360K13.1 0 broad.mit.edu 37 11 96514999 96515000 + RNA DEL AA AA - rs112766481 TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr11:96514999_96515000delAA ENST00000527528.1 + 0 158 CTTAGTTATTaaaaaaaaaaaa 0.371 4 9 --- --- --- --- PLA2G4E 123745 broad.mit.edu 37 15 42302338 42302338 + Frame_Shift_Del DEL A A - rs28736629 TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr15:42302338delA ENST00000413860.2 - 1 107 c.108delT c.(106-108)ggfs p.G38fs PLA2G4E_ENST00000399518.3_Intron Q3MJ16 PA24E_HUMAN phospholipase A2, group IVE 0 C2. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity p.A39fs*19(1) NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1) 16 all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273) OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06) TGGCCCCCCCACCCCGGGCCT 0.592 17 25 --- --- --- --- DNM1P47 100216544 broad.mit.edu 37 15 102299886 102299887 + RNA INS - - G TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr15:102299886_102299887insG ENST00000561463.1 + 0 7932_7933 AACCTGTACTCGCGTCGGAACC 0.589 4 5 --- --- --- --- RRN3P2 653390 broad.mit.edu 37 16 29110406 29110406 + RNA DEL T T - TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr16:29110406delT ENST00000564580.1 + 0 1098 TTAAAAAATCTTTTTTTTTTT 0.299 7 31 --- --- --- --- ANKRD20A18P 391269 broad.mit.edu 37 21 15436915 15436915 + RNA DEL G G - TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7757c267-b7a8-49c4-822f-b957654edbef 16c549a2-0dbb-4eca-8dd2-279423d96599 g.chr21:15436915delG ENST00000428809.1 + 0 177 CCCCTGGGACGGGGGCCTTGG 0.687 3 4 --- --- --- ---