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 PRDM9 56979 broad.mit.edu 37 5 23522839 23522839 + Missense_Mutation SNP C C T TCGA-S9-A6U1-01A-21D-A33T-08 TCGA-S9-A6U1-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b195ecbd-19d9-44f9-87b6-f3cee5b93490 119a0ced-acee-46e4-8534-c42b39d35197 g.chr5:23522839C>T ENST00000296682.3 + 8 909 c.727C>T c.(727-729)Ccc>Tcc p.P243S NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 243 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 CCTCAGTCTGCCCCCAGGGCT 0.577000 HNSCC(3;0.000094) 29 58 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38622756 38622756 + Missense_Mutation SNP C C A TCGA-S9-A6U1-01A-21D-A33T-08 TCGA-S9-A6U1-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b195ecbd-19d9-44f9-87b6-f3cee5b93490 119a0ced-acee-46e4-8534-c42b39d35197 g.chr3:38622756C>A ENST00000413689.1 - 17 3087 c.2894G>T c.(2893-2895)cGc>cTc p.R965L SCN5A_ENST00000425664.1_Missense_Mutation_p.R965L|SCN5A_ENST00000451551.2_Missense_Mutation_p.R965L|SCN5A_ENST00000443581.1_Missense_Mutation_p.R965L|SCN5A_ENST00000450102.2_Missense_Mutation_p.R965L|SCN5A_ENST00000414099.2_Missense_Mutation_p.R965L|SCN5A_ENST00000423572.2_Missense_Mutation_p.R965L|SCN5A_ENST00000455624.2_Missense_Mutation_p.R965L|SCN5A_ENST00000333535.4_Missense_Mutation_p.R965L|SCN5A_ENST00000449557.2_Missense_Mutation_p.R965L NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 965 R -> C (in BRS1; steady state inactivation shifted to a more negative potential; slower recovery from inactivation). blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity p.R965H(2) NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) CCTCTGGATGCGGGCCAGGGC 0.627000 4 47 1 1 1 1 0 PCDH19 57526 broad.mit.edu 37 X 99662844 99662844 + Missense_Mutation SNP G G A TCGA-S9-A6U1-01A-21D-A33T-08 TCGA-S9-A6U1-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b195ecbd-19d9-44f9-87b6-f3cee5b93490 119a0ced-acee-46e4-8534-c42b39d35197 g.chrX:99662844G>A ENST00000373034.4 - 1 2427 c.752C>T c.(751-753)tCg>tTg p.S251L PCDH19_ENST00000255531.7_Missense_Mutation_p.S251L|PCDH19_ENST00000420881.2_Missense_Mutation_p.S251L NM_001184880.1 NP_001171809.1 Q8TAB3 PCD19_HUMAN protocadherin 19 251 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 68 GTTGGGAGGCGAGTTTTCTGG 0.602000 74 209 0 0 1 0 0 MS4A1 931 broad.mit.edu 37 11 60233595 60233595 + Missense_Mutation SNP A A C TCGA-S9-A6U1-01A-21D-A33T-08 TCGA-S9-A6U1-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b195ecbd-19d9-44f9-87b6-f3cee5b93490 119a0ced-acee-46e4-8534-c42b39d35197 g.chr11:60233595A>C ENST00000534668.1 + 5 827 c.538A>C c.(538-540)Acc>Ccc p.T180P MS4A1_ENST00000345732.4_Missense_Mutation_p.T180P|MS4A1_ENST00000528313.1_Intron|MS4A1_ENST00000389939.2_Missense_Mutation_p.T180P|MS4A1_ENST00000532073.1_Missense_Mutation_p.T180P NM_152866.2 NP_690605.1 P11836 CD20_HUMAN membrane-spanning 4-domains, subfamily A, member 1 180 B cell activation|immune response integral to plasma membrane endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081) CTCCCCATCTACCCAATACTG 0.373000 16 224 0 0 1 0 0 CEP170B 283638 broad.mit.edu 37 14 105361169 105361169 + Silent SNP A A C TCGA-S9-A6U1-01A-21D-A33T-08 TCGA-S9-A6U1-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b195ecbd-19d9-44f9-87b6-f3cee5b93490 119a0ced-acee-46e4-8534-c42b39d35197 g.chr14:105361169A>C ENST00000453495.1 + 19 4875 c.4647A>C c.(4645-4647)tcA>tcC p.S1549S CEP170B_ENST00000556508.1_Silent_p.S1478S|CEP170B_ENST00000418279.1_Silent_p.S1443S|CEP170B_ENST00000414716.3_Silent_p.S1513S centrosomal protein 170B p.S1513S(3)|p.S1479S(3)|p.S1478S(1) GCCCACCCTCACCCGCCTCAG 0.711000 9 24 0 0 1 0 0 USP48 84196 broad.mit.edu 37 1 22030798 22030798 + Silent SNP C C T TCGA-S9-A6U1-01A-21D-A33T-08 TCGA-S9-A6U1-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b195ecbd-19d9-44f9-87b6-f3cee5b93490 119a0ced-acee-46e4-8534-c42b39d35197 g.chr1:22030798C>T ENST00000308271.9 - 20 3120 c.2472G>A c.(2470-2472)gtG>gtA p.V824V USP48_ENST00000400301.1_Silent_p.V824V|USP48_ENST00000374732.3_Silent_p.V362V|USP48_ENST00000529637.1_Silent_p.V836V NM_032236.5 NP_115612.4 Q86UV5 UBP48_HUMAN ubiquitin specific peptidase 48 824 DUSP 3. ubiquitin-dependent protein catabolic process mitochondrion|nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753) TTACATCTCCCACTTCAATTC 0.358000 69 112 0 0 1 0 0 DSG1 1828 broad.mit.edu 37 18 28919761 28919761 + Missense_Mutation SNP G G A TCGA-S9-A6U1-01A-21D-A33T-08 TCGA-S9-A6U1-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b195ecbd-19d9-44f9-87b6-f3cee5b93490 119a0ced-acee-46e4-8534-c42b39d35197 g.chr18:28919761G>A ENST00000257192.4 + 11 1672 c.1460G>A c.(1459-1461)gGt>gAt p.G487D NM_001942.2 NP_001933.2 Q02413 DSG1_HUMAN desmoglein 1 487 Cadherin 4. 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) CAAAGTTTTGGTAATGACGAC 0.328000 8 138 0 0 1 0 0 UACA 55075 broad.mit.edu 37 15 70961406 70961406 + Silent SNP G G A TCGA-S9-A6U1-01A-21D-A33T-08 TCGA-S9-A6U1-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b195ecbd-19d9-44f9-87b6-f3cee5b93490 119a0ced-acee-46e4-8534-c42b39d35197 g.chr15:70961406G>A ENST00000322954.6 - 16 1802 c.1617C>T c.(1615-1617)acC>acT p.T539T UACA_ENST00000560441.1_Silent_p.T524T|UACA_ENST00000379983.2_Silent_p.T526T|UACA_ENST00000539319.1_Silent_p.T430T NM_018003.2 NP_060473.2 Q9BZF9 UACA_HUMAN uveal autoantigen with coiled-coil domains and ankyrin repeats 539 cytoskeleton|extracellular region p.T526T(1)|p.T539T(1) breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 50 TCAGTTCCTCGGTTAGTCTGT 0.383000 15 355 0 0 1 0 0 SLC22A6 9356 broad.mit.edu 37 11 62744652 62744652 + Nonsense_Mutation SNP C C T TCGA-S9-A6U1-01A-21D-A33T-08 TCGA-S9-A6U1-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b195ecbd-19d9-44f9-87b6-f3cee5b93490 119a0ced-acee-46e4-8534-c42b39d35197 g.chr11:62744652C>T ENST00000377871.3 - 9 1835 c.1569G>A c.(1567-1569)tgG>tgA p.W523* SLC22A6_ENST00000458333.2_Intron|SLC22A6_ENST00000421062.2_Nonsense_Mutation_p.W479*|SLC22A6_ENST00000360421.4_Intron NM_004790.4|NM_153278.2 NP_004781.2|NP_695010.1 Q4U2R8 S22A6_HUMAN solute carrier family 22 (organic anion transporter), member 6 523 alpha-ketoglutarate transport basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 gagTGGGGGCCCACCTGCTCT 0.607000 8 213 0 0 1 0 0 CCDC33 80125 broad.mit.edu 37 15 74625122 74625122 + Missense_Mutation SNP G G A TCGA-S9-A6U1-01A-21D-A33T-08 TCGA-S9-A6U1-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b195ecbd-19d9-44f9-87b6-f3cee5b93490 119a0ced-acee-46e4-8534-c42b39d35197 g.chr15:74625122G>A ENST00000321288.5 + 18 2483 c.2483G>A c.(2482-2484)cGg>cAg p.R828Q CCDC33_ENST00000268082.4_Missense_Mutation_p.R218Q|CCDC33_ENST00000558821.1_Missense_Mutation_p.R218Q|CCDC33_ENST00000398814.3_Missense_Mutation_p.R625Q Q8N5R6 CCD33_HUMAN coiled-coil domain containing 33 828 protein binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 GCGAAGCTGCGGACGGAGCTG 0.602000 14 191 0 0 1 0 0 RP11-178C3.2 0 broad.mit.edu 37 17 58066651 58066651 + RNA SNP C C T rs144367363 by1000genomes TCGA-S9-A6U1-01A-21D-A33T-08 TCGA-S9-A6U1-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b195ecbd-19d9-44f9-87b6-f3cee5b93490 119a0ced-acee-46e4-8534-c42b39d35197 g.chr17:58066651C>T ENST00000586209.1 + 0 158 ACTGGTAAAGCTGTTTAAGAG 0.333000 3 39 0 0 1 0 0 GPR141 353345 broad.mit.edu 37 7 37780775 37780775 + Silent SNP C C T TCGA-S9-A6U1-01A-21D-A33T-08 TCGA-S9-A6U1-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b195ecbd-19d9-44f9-87b6-f3cee5b93490 119a0ced-acee-46e4-8534-c42b39d35197 g.chr7:37780775C>T ENST00000447769.1 + 4 1069 c.780C>T c.(778-780)agC>agT p.S260S GPR141_ENST00000334425.1_Silent_p.S260S|EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron Q7Z602 GP141_HUMAN G protein-coupled receptor 141 260 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 CCTGTAACAGCAAGGTTGCAT 0.383000 5 262 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113113 209113113 + Missense_Mutation SNP G G A rs121913499 TCGA-S9-A6U1-01A-21D-A33T-08 TCGA-S9-A6U1-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b195ecbd-19d9-44f9-87b6-f3cee5b93490 119a0ced-acee-46e4-8534-c42b39d35197 g.chr2:209113113G>A ENST00000415913.1 - 4 775 c.394C>T c.(394-396)Cgt>Tgt p.R132C IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) TAAGCATGACGACCTATGATG 0.398000 Mis gliobastoma 64 124 0 0 1 0 0 VAC14 55697 broad.mit.edu 37 16 70834803 70834803 + Translation_Start_Site SNP T T C TCGA-S9-A6U1-01A-21D-A33T-08 TCGA-S9-A6U1-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b195ecbd-19d9-44f9-87b6-f3cee5b93490 119a0ced-acee-46e4-8534-c42b39d35197 g.chr16:70834803T>C ENST00000261776.5 - 1 261 c.1A>G c.(1-3)Atg>Gtg p.M1V NM_018052.3 NP_060522.3 Q08AM6 VAC14_HUMAN Vac14 homolog (S. cerevisiae) 1 interspecies interaction between organisms endoplasmic reticulum|endosome membrane|microsome protein binding|receptor activity breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Ovarian(137;0.0699) TCGGGGTTCATGGTGGCAGCT 0.697000 4 83 0 0 1 0 0 EPB42 2038 broad.mit.edu 37 15 43512971 43512971 + Missense_Mutation SNP G G A TCGA-S9-A6U1-01A-21D-A33T-08 TCGA-S9-A6U1-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b195ecbd-19d9-44f9-87b6-f3cee5b93490 119a0ced-acee-46e4-8534-c42b39d35197 g.chr15:43512971G>A ENST00000300215.3 - 1 510 c.53C>T c.(52-54)gCa>gTa p.A18V EPB42_ENST00000441366.2_Intron|EPB42_ENST00000540029.1_Intron P16452 EPB42_HUMAN erythrocyte membrane protein band 4.2 0 erythrocyte maturation|peptide cross-linking|regulation of cell shape cytoplasm|cytoskeleton|plasma membrane ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.7e-07) TGCGGGGGCTGCATACAGTCC 0.582000 5 323 0 0 1 0 0 SEC23IP 11196 broad.mit.edu 37 10 121663645 121663645 + Silent SNP C C T TCGA-S9-A6U1-01A-21D-A33T-08 TCGA-S9-A6U1-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b195ecbd-19d9-44f9-87b6-f3cee5b93490 119a0ced-acee-46e4-8534-c42b39d35197 g.chr10:121663645C>T ENST00000369075.3 + 4 1029 c.957C>T c.(955-957)taC>taT p.Y319Y SEC23IP_ENST00000543134.1_Silent_p.Y108Y NM_007190.3 NP_009121.1 Q9Y6Y8 S23IP_HUMAN SEC23 interacting protein 319 Interaction with SEC23A. Golgi organization|intracellular protein transport endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment metal ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1) 36 Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234) all cancers(201;0.00515) GAGGGCGCTACGATGTTTACC 0.488000 56 116 0 0 1 0 0 ROBO2 6092 broad.mit.edu 37 3 77526572 77526572 + Silent SNP A A G TCGA-S9-A6U1-01A-21D-A33T-08 TCGA-S9-A6U1-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b195ecbd-19d9-44f9-87b6-f3cee5b93490 119a0ced-acee-46e4-8534-c42b39d35197 g.chr3:77526572A>G ENST00000461745.1 + 3 1296 c.396A>G c.(394-396)cgA>cgG p.R132R ROBO2_ENST00000332191.8_Silent_p.R132R|ROBO2_ENST00000487694.3_Silent_p.R148R NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 132 apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) CAGTGTTACGAGATGACTTCC 0.463000 20 275 0 0 1 0 0 ZXDB 158586 broad.mit.edu 37 X 57619097 57619097 + Missense_Mutation SNP G G A TCGA-S9-A6U1-01A-21D-A33T-08 TCGA-S9-A6U1-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b195ecbd-19d9-44f9-87b6-f3cee5b93490 119a0ced-acee-46e4-8534-c42b39d35197 g.chrX:57619097G>A ENST00000374888.1 + 1 829 c.616G>A c.(616-618)Ggg>Agg p.G206R NM_007157.3 NP_009088.1 P98169 ZXDB_HUMAN zinc finger, X-linked, duplicated B 206 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding p.G206R(2) NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6) 27 CCAGCAGCCCGGGTGTCTGAT 0.711000 3 32 0 0 1 0 0 CMA1 1215 broad.mit.edu 37 14 24974844 24974844 + Silent SNP G G A TCGA-S9-A6U1-01A-21D-A33T-08 TCGA-S9-A6U1-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b195ecbd-19d9-44f9-87b6-f3cee5b93490 119a0ced-acee-46e4-8534-c42b39d35197 g.chr14:24974844G>A ENST00000250378.3 - 5 651 c.622C>T c.(622-624)Ctg>Ttg p.L208L CMA1_ENST00000206446.4_Silent_p.L97L|RP11-80A15.1_ENST00000555109.1_Intron NM_001836.3 NP_001827.1 P23946 CMA1_HUMAN chymase 1, mast cell 208 Peptidase S1. interleukin-1 beta biosynthetic process|proteolysis extracellular region serine-type endopeptidase activity kidney(1)|lung(8)|pancreas(1)|prostate(1) 11 GBM - Glioblastoma multiforme(265;0.0271) CCAGCACACAGAAGAGGGCCC 0.612000 8 142 0 0 1 0 0 FRMD7 90167 broad.mit.edu 37 X 131216554 131216554 + Splice_Site SNP C C A TCGA-S9-A6U1-01A-21D-A33T-08 TCGA-S9-A6U1-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b195ecbd-19d9-44f9-87b6-f3cee5b93490 119a0ced-acee-46e4-8534-c42b39d35197 g.chrX:131216554C>A ENST00000298542.4 - 9 917 c.741_splice c.e9-1 p.V248_splice FRMD7_ENST00000464296.1_Splice_Site_p.V233_splice|FRMD7_ENST00000370879.1_Splice_Site_p.V128_splice NM_194277.2 NP_919253.1 Q6ZUT3 FRMD7_HUMAN FERM domain containing 7 248 FERM. regulation of neuron projection development cytoskeleton|growth cone|neuronal cell body binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Acute lymphoblastic leukemia(192;0.000127) TTGCACAACACCTGTATAAAC 0.448000 11 297 4.68919e-08 5.12539e-08 1 1 0 OR4F6 390648 broad.mit.edu 37 15 102346232 102346232 + Missense_Mutation SNP A A G TCGA-S9-A6U1-01A-21D-A33T-08 TCGA-S9-A6U1-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b195ecbd-19d9-44f9-87b6-f3cee5b93490 119a0ced-acee-46e4-8534-c42b39d35197 g.chr15:102346232A>G ENST00000328882.4 + 1 331 c.310A>G c.(310-312)Atc>Gtc p.I104V NM_001005326.1 NP_001005326.1 Q8NGB9 OR4F6_HUMAN olfactory receptor, family 4, subfamily F, member 6 104 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) GATCTTCTTTATCCATGCAGT 0.458000 13 465 0 0 1 0 0 SSTR1 0 broad.mit.edu 37 14 38679188 38679188 + Silent SNP C C G TCGA-S9-A6U1-01A-21D-A33T-08 TCGA-S9-A6U1-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b195ecbd-19d9-44f9-87b6-f3cee5b93490 119a0ced-acee-46e4-8534-c42b39d35197 g.chr14:38679188C>G ENST00000267377.2 + 3 1211 c.594C>G c.(592-594)acC>acG p.T198T NM_001049.2 NP_001040.1 P30872 SSR1_HUMAN somatostatin receptor 1 198 digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient integral to plasma membrane somatostatin receptor activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00444) Octreotide(DB00104) TCTCTCGCACCGCGGCCAACA 0.637000 7 98 0 0 1 0 0 C1orf95 375057 broad.mit.edu 37 1 226784542 226784542 + Missense_Mutation SNP G G A TCGA-S9-A6U1-01A-21D-A33T-08 TCGA-S9-A6U1-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b195ecbd-19d9-44f9-87b6-f3cee5b93490 119a0ced-acee-46e4-8534-c42b39d35197 g.chr1:226784542G>A ENST00000366788.3 + 2 347 c.242G>A c.(241-243)cGc>cAc p.R81H C1orf95_ENST00000366789.4_Missense_Mutation_p.R81H NM_001003665.3 NP_001003665.1 Q69YW2 CA095_HUMAN chromosome 1 open reading frame 95 81 integral to membrane large_intestine(1)|lung(4)|ovary(3) 8 Breast(184;0.133) Prostate(94;0.0885) GBM - Glioblastoma multiforme(131;0.113) TGCGGGGCCCGCACCGACCTC 0.617000 5 266 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128812 45128812 + RNA SNP C C T TCGA-S9-A6U1-01A-21D-A33T-08 TCGA-S9-A6U1-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b195ecbd-19d9-44f9-87b6-f3cee5b93490 119a0ced-acee-46e4-8534-c42b39d35197 g.chr17:45128812C>T ENST00000575173.1 - 0 418 AGTCCTGTTTCTGTGTGGATT 0.373000 5 91 0 0 1 0 0 IGHV4OR15-8 0 broad.mit.edu 37 15 22473151 22473151 + RNA SNP G G T TCGA-S9-A6U1-01A-21D-A33T-08 TCGA-S9-A6U1-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b195ecbd-19d9-44f9-87b6-f3cee5b93490 119a0ced-acee-46e4-8534-c42b39d35197 g.chr15:22473151G>T ENST00000557788.2 - 0 119 AGACAACGCAGGTGAGGGACA 0.612000 11 523 1.58986e-06 1.69826e-06 1 1 0 ADAMTS12 81792 broad.mit.edu 37 5 33576786 33576786 + Silent SNP C C T TCGA-S9-A6U1-01A-21D-A33T-08 TCGA-S9-A6U1-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b195ecbd-19d9-44f9-87b6-f3cee5b93490 119a0ced-acee-46e4-8534-c42b39d35197 g.chr5:33576786C>T ENST00000504830.1 - 19 3680 c.3345G>A c.(3343-3345)tcG>tcA p.S1115S ADAMTS12_ENST00000352040.3_Silent_p.S1030S NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 1115 Spacer 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 GGCCTCCCTCCGAGGTAGGAC 0.493000 HNSCC(64;0.19) 4 176 0 0 1 0 0 TIMELESS 8914 broad.mit.edu 37 12 56815192 56815192 + Silent SNP C C T TCGA-S9-A6U1-01A-21D-A33T-08 TCGA-S9-A6U1-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b195ecbd-19d9-44f9-87b6-f3cee5b93490 119a0ced-acee-46e4-8534-c42b39d35197 g.chr12:56815192C>T ENST00000229201.4 - 23 2962 c.2808G>A c.(2806-2808)gtG>gtA p.V936V TIMELESS_ENST00000554616.1_Silent_p.V434V|TIMELESS_ENST00000553532.1_Silent_p.V937V NM_003920.3 NP_003911.2 Q9UNS1 TIM_HUMAN timeless circadian clock 937 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 49 GCCGCTCAGCCACCAGCCCCA 0.517000 14 247 0 0 1 0 0 URB2 9816 broad.mit.edu 37 1 229773923 229773923 + Missense_Mutation SNP C C T TCGA-S9-A6U1-01A-21D-A33T-08 TCGA-S9-A6U1-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b195ecbd-19d9-44f9-87b6-f3cee5b93490 119a0ced-acee-46e4-8534-c42b39d35197 g.chr1:229773923C>T ENST00000258243.2 + 4 3699 c.3563C>T c.(3562-3564)gCc>gTc p.A1188V NM_014777.2 NP_055592.2 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog (S. cerevisiae) 1188 nucleolus breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6) 73 TTCTTTTTGGCCCCAGAACTG 0.453000 5 306 0 0 1 0 0 ECM1 1893 broad.mit.edu 37 1 150483973 150483973 + Missense_Mutation SNP C C T TCGA-S9-A6U1-01A-21D-A33T-08 TCGA-S9-A6U1-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b195ecbd-19d9-44f9-87b6-f3cee5b93490 119a0ced-acee-46e4-8534-c42b39d35197 g.chr1:150483973C>T ENST00000369047.4 + 7 874 c.749C>T c.(748-750)tCg>tTg p.S250L ECM1_ENST00000346569.6_Intron|ECM1_ENST00000369049.4_Missense_Mutation_p.S277L|ECM1_ENST00000470432.1_3'UTR NM_004425.3 NP_004416.2 Q16610 ECM1_HUMAN extracellular matrix protein 1 250 2 X approximate repeats. angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade proteinaceous extracellular matrix laminin binding|protease binding|protein C-terminus binding|signal transducer activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1) 22 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) GCCGAGTTCTCGGTCAAGACC 0.632000 5 190 0 0 1 0 0 COL1A2 1278 broad.mit.edu 37 7 94054923 94054923 + Splice_Site SNP G G A TCGA-S9-A6U1-01A-21D-A33T-08 TCGA-S9-A6U1-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b195ecbd-19d9-44f9-87b6-f3cee5b93490 119a0ced-acee-46e4-8534-c42b39d35197 g.chr7:94054923G>A ENST00000297268.6 + 43 3254 c.2781_splice c.e43-1 p.G928_splice NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 928 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) TCTTCACAGGGCAACCCTGGG 0.493000 HNSCC(75;0.22) 4 89 0 0 1 0 0 SEL1L2 80343 broad.mit.edu 37 20 13850848 13850848 + Splice_Site SNP C C T TCGA-S9-A6U1-01A-21D-A33T-08 TCGA-S9-A6U1-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b195ecbd-19d9-44f9-87b6-f3cee5b93490 119a0ced-acee-46e4-8534-c42b39d35197 g.chr20:13850848C>T ENST00000284951.5 - 13 1180 c.1104_splice c.e13-1 p.G369_splice SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Splice_Site_p.G369_splice Q5TEA6 SE1L2_HUMAN sel-1 suppressor of lin-12-like 2 (C. elegans) 369 integral to membrane binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 51 GATTGCATTGCCCTAGAAGAG 0.338000 12 153 0 0 1 0 0 PTPDC1 138639 broad.mit.edu 37 9 96859944 96859944 + Missense_Mutation SNP G G A TCGA-S9-A6U1-01A-21D-A33T-08 TCGA-S9-A6U1-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b195ecbd-19d9-44f9-87b6-f3cee5b93490 119a0ced-acee-46e4-8534-c42b39d35197 g.chr9:96859944G>A ENST00000375360.3 + 7 1274 c.934G>A c.(934-936)Gaa>Aaa p.E312K PTPDC1_ENST00000288976.3_Missense_Mutation_p.E364K NM_001253830.1|NM_177995.2 NP_001240759.1|NP_818931.1 A2A3K4 PTPC1_HUMAN protein tyrosine phosphatase domain containing 1 312 protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.E364K(1)|p.E312K(1) endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 32 GGATGTGTCCGAAGGACCTGG 0.468000 4 229 0 0 1 0 0 SSX9 0 broad.mit.edu 37 X 48164214 48164214 + Splice_Site SNP C C A TCGA-S9-A6U1-01A-21D-A33T-08 TCGA-S9-A6U1-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b195ecbd-19d9-44f9-87b6-f3cee5b93490 119a0ced-acee-46e4-8534-c42b39d35197 g.chrX:48164214C>A ENST00000376909.1 - 2 131 c.69_splice c.e2+1 p.K23_splice SSX9_ENST00000407081.2_Splice_Site_p.K23_splice breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1) 8 GTCACCTCACCTTTTGGATCT 0.557000 10 445 1.61879e-10 1.8115e-10 1 1 0 ACVRL1 94 broad.mit.edu 37 12 52310011 52310011 + Missense_Mutation SNP G G T TCGA-S9-A6U1-01A-21D-A33T-08 TCGA-S9-A6U1-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b195ecbd-19d9-44f9-87b6-f3cee5b93490 119a0ced-acee-46e4-8534-c42b39d35197 g.chr12:52310011G>T ENST00000550683.1 + 7 1383 c.1282G>T c.(1282-1284)Gtg>Ttg p.V428L ACVRL1_ENST00000388922.4_Missense_Mutation_p.V414L|ACVRL1_ENST00000419526.2_Missense_Mutation_p.V240L NM_001077401.1 NP_001070869.1 P37023 ACVL1_HUMAN activin A receptor type II-like 1 414 Protein kinase. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells cell surface|integral to plasma membrane activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(357;0.0991) Adenosine triphosphate(DB00171) CCGGACCATCGTGAATGGTGA 0.622000 3 45 1 1 1 1 0 PLEKHA6 22874 broad.mit.edu 37 1 204214034 204214034 + Silent SNP C C A TCGA-S9-A6U1-01A-21D-A33T-08 TCGA-S9-A6U1-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b195ecbd-19d9-44f9-87b6-f3cee5b93490 119a0ced-acee-46e4-8534-c42b39d35197 g.chr1:204214034C>A ENST00000272203.3 - 15 2446 c.2130G>T c.(2128-2130)gtG>gtT p.V710V PLEKHA6_ENST00000414478.1_Silent_p.V730V NM_014935.4 NP_055750.2 Q9Y2H5 PKHA6_HUMAN pleckstrin homology domain containing, family A member 6 710 breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) GAGAGCCCGACACCAGTGAAA 0.627000 3 7 0.00024832 0.000259356 1 1 0 INTS4 92105 broad.mit.edu 37 11 77629973 77629973 + Missense_Mutation SNP G G C TCGA-S9-A6U1-01A-21D-A33T-08 TCGA-S9-A6U1-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b195ecbd-19d9-44f9-87b6-f3cee5b93490 119a0ced-acee-46e4-8534-c42b39d35197 g.chr11:77629973G>C ENST00000534064.1 - 15 1850 c.1816C>G c.(1816-1818)Caa>Gaa p.Q606E NM_033547.3 NP_291025.3 Q96HW7 INT4_HUMAN integrator complex subunit 4 606 snRNA processing integrator complex protein binding INTS4/GAB2(2) NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1) 32 all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152) Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23) GGATCCTCTTGAGGTATGATG 0.493000 89 141 0 0 1 0 0 RP11-431K24.1 0 broad.mit.edu 37 1 8118037 8118037 + RNA DEL T T - TCGA-S9-A6U1-01A-21D-A33T-08 TCGA-S9-A6U1-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b195ecbd-19d9-44f9-87b6-f3cee5b93490 119a0ced-acee-46e4-8534-c42b39d35197 g.chr1:8118037delT ENST00000445300.1 + 0 815 ccttccttccttccttccttc 0.438 3 4 --- --- --- --- AGAP2 116986 broad.mit.edu 37 12 58121782 58121782 + Frame_Shift_Del DEL C C - TCGA-S9-A6U1-01A-21D-A33T-08 TCGA-S9-A6U1-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b195ecbd-19d9-44f9-87b6-f3cee5b93490 119a0ced-acee-46e4-8534-c42b39d35197 g.chr12:58121782delC ENST00000257897.3 - 14 1721 c.1636delG c.(1636-1638)tcfs p.V546fs AGAP2_ENST00000547588.1_Frame_Shift_Del_p.V902fs|AGAP2-AS1_ENST00000542466.2_3'UTR NM_014770.3 NP_055585.1 Q99490 AGAP2_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 902 G domain. axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction mitochondrion|nucleolus ARF GTPase activator activity|GTP binding|zinc ion binding breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1) 48 ATGGCCTGGACCCAGGCATCC 0.567 7 271 --- --- --- --- RBM25 58517 broad.mit.edu 37 14 73572607 73572608 + Frame_Shift_Del DEL AG AG - TCGA-S9-A6U1-01A-21D-A33T-08 TCGA-S9-A6U1-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b195ecbd-19d9-44f9-87b6-f3cee5b93490 119a0ced-acee-46e4-8534-c42b39d35197 g.chr14:73572607_73572608delAG ENST00000261973.7 + 11 1480_1481 c.1195_1196delAG c.(1195-1197)afs p.R399fs RBM25_ENST00000527432.1_Frame_Shift_Del_p.R399fs NM_021239.2 NP_067062.1 P49756 RBM25_HUMAN RNA binding motif protein 25 399 Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization. apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing cytoplasm|nuclear speck mRNA binding|nucleotide binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1) 31 BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688) agagcgggaaagagagagagag 0.446 7 68 --- --- --- --- ZFHX3 463 broad.mit.edu 37 16 72991713 72991715 + In_Frame_Del DEL CCA CCA - rs4788682 by1000genomes TCGA-S9-A6U1-01A-21D-A33T-08 TCGA-S9-A6U1-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b195ecbd-19d9-44f9-87b6-f3cee5b93490 119a0ced-acee-46e4-8534-c42b39d35197 g.chr16:72991713_72991715delCCA ENST00000268489.5 - 2 3002_3004 c.2330_2332delTGG c.(2329-2334)gct>g p.VA777del ZFHX3_ENST00000397992.5_Intron NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 777 Poly-Ala. V -> A (in dbSNP:rs4788682). muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.V777V(1) NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) gccgccgcagccaccgccgccgc 0.635 9 209 --- --- --- --- TERF2IP 54386 broad.mit.edu 37 16 75690204 75690206 + In_Frame_Del DEL GAA GAA - rs140846731 TCGA-S9-A6U1-01A-21D-A33T-08 TCGA-S9-A6U1-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b195ecbd-19d9-44f9-87b6-f3cee5b93490 119a0ced-acee-46e4-8534-c42b39d35197 g.chr16:75690204_75690206delGAA ENST00000300086.4 + 3 992_994 c.895_897delGAA c.(895-897)del p.E304del NM_018975.3 NP_061848.2 Q9NYB0 TE2IP_HUMAN telomeric repeat binding factor 2, interacting protein 304 Asp/Glu-rich (acidic). negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent cytoplasm|nuclear telomere cap complex|nucleoplasm DNA binding|protein binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1) 5 TGATgaggaggaagaagaagaag 0.424 9 164 --- --- --- --- MIR3648 0 broad.mit.edu 37 21 9825838 9825839 + RNA INS - - GCG rs3052281 TCGA-S9-A6U1-01A-21D-A33T-08 TCGA-S9-A6U1-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b195ecbd-19d9-44f9-87b6-f3cee5b93490 119a0ced-acee-46e4-8534-c42b39d35197 g.chr21:9825838_9825839insGCG ENST00000581792.1 + 0 7_8 NR_037421.1 cggccgcgactgcggcggcggt 0.842 4 4 --- --- --- --- XKR3 150165 broad.mit.edu 37 22 17264884 17264884 + Frame_Shift_Del DEL A A - TCGA-S9-A6U1-01A-21D-A33T-08 TCGA-S9-A6U1-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b195ecbd-19d9-44f9-87b6-f3cee5b93490 119a0ced-acee-46e4-8534-c42b39d35197 g.chr22:17264884delA ENST00000331428.5 - 4 1107 c.1005delT c.(1003-1005)atfs p.I335fs NM_175878.3 NP_787074.2 Q5GH77 XKR3_HUMAN XK, Kell blood group complex subunit-related family, member 3 335 integral to membrane|plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) GTCTCCCGTCAATTATTTTGT 0.408 90 42 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76937477 76937480 + Frame_Shift_Del DEL TCTC TCTC - TCGA-S9-A6U1-01A-21D-A33T-08 TCGA-S9-A6U1-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b195ecbd-19d9-44f9-87b6-f3cee5b93490 119a0ced-acee-46e4-8534-c42b39d35197 g.chrX:76937477_76937480delTCTC ENST00000373344.5 - 9 3482_3485 c.3268_3271delGAGA c.(3268-3273)agfs p.EK1090fs ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.EK1052fs NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1090 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) CACCTTTTCTTCTCTCTACCATAT 0.377 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 221 438 --- --- --- ---