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 SPTA1 6708 broad.mit.edu 37 1 158585065 158585065 + Silent SNP G G A TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr1:158585065G>A ENST00000368147.4 - 48 6909 c.6729C>T c.(6727-6729)gaC>gaT p.D2243D NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton p.D2243D(1) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) GGTAGAGCTGGTCCCACTGCT 0.542 87 233 --- --- --- --- CCDC121 79635 broad.mit.edu 37 2 27850383 27850383 + Missense_Mutation SNP T T C TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr2:27850383T>C ENST00000324364.3 - 2 464 c.284A>G c.(283-285)aAt>aGt p.N95S ZNF512_ENST00000556601.1_Intron|CCDC121_ENST00000394775.3_Missense_Mutation_p.N257S|RP11-158I13.2_ENST00000505973.1_RNA NM_024584.4 NP_078860.2 Q6ZUS5 CC121_HUMAN coiled-coil domain containing 121 95 p.N95S(1) breast(1)|endometrium(3)|large_intestine(2)|lung(6)|prostate(2) 14 Acute lymphoblastic leukemia(172;0.155) GGATTGGATATTTTCCTTTTG 0.393 158 322 --- --- --- --- ITGA4 3676 broad.mit.edu 37 2 182376434 182376434 + Silent SNP T T C TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr2:182376434T>C ENST00000397033.2 + 17 2284 c.1854T>C c.(1852-1854)ttT>ttC p.F618F NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 618 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity p.F618F(2) 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) AGATAAACTTTGCAAGGTTTT 0.303 62 181 --- --- --- --- AGFG1 3267 broad.mit.edu 37 2 228389506 228389506 + Missense_Mutation SNP A A C TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr2:228389506A>C ENST00000310078.8 + 5 829 c.569A>C c.(568-570)cAg>cCg p.Q190P AGFG1_ENST00000409979.2_Missense_Mutation_p.Q190P|AGFG1_ENST00000409315.1_Missense_Mutation_p.Q190P|AGFG1_ENST00000486932.1_3'UTR|AGFG1_ENST00000409171.1_Missense_Mutation_p.Q190P|AGFG1_ENST00000373671.3_Missense_Mutation_p.Q190P NM_001135188.1|NM_001135189.1|NM_004504.4 NP_001128660.1|NP_001128661.1|NP_004495.2 P52594 AGFG1_HUMAN ArfGAP with FG repeats 1 cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding p.Q190P(1) central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1) 18 TCTCAAGGGCAGCAGCAGGAG 0.423 57 194 --- --- --- --- VGLL4 9686 broad.mit.edu 37 3 11744501 11744501 + Translation_Start_Site SNP G G A TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr3:11744501G>A ENST00000404339.1 - 0 358 VGLL4_ENST00000273038.3_Missense_Mutation_p.T3M Q14135 VGLL4_HUMAN vestigial like 4 (Drosophila) regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus p.T3M(1) NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111) ATCCAATGGCGTCTCCATTCC 0.368 11 44 --- --- --- --- AMIGO3 386724 broad.mit.edu 37 3 49755885 49755885 + Silent SNP G G A TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr3:49755885G>A ENST00000535833.1 - 10 4464 c.1014C>T c.(1012-1014)gcC>gcT p.A338A RNF123_ENST00000327697.6_Intron|RNF123_ENST00000497099.1_3'UTR|GMPPB_ENST00000480687.1_3'UTR|AMIGO3_ENST00000320431.7_Silent_p.A338A|RNF123_ENST00000433785.1_Intron Q86WK7 AMGO3_HUMAN adhesion molecule with Ig-like domain 3 338 Ig-like C2-type. heterophilic cell-cell adhesion integral to membrane p.A338A(1) endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1) 5 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CGTTGCCTATGGCCAAGCTGC 0.667 9 34 --- --- --- --- GPR160 26996 broad.mit.edu 37 3 169802125 169802125 + Missense_Mutation SNP T T C TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr3:169802125T>C ENST00000355897.5 + 4 973 c.365T>C c.(364-366)cTg>cCg p.L122P NM_014373.2 NP_055188.1 Q9UJ42 GP160_HUMAN G protein-coupled receptor 160 122 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2) 8 all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) GATTATTGCCTGAATTTCTCT 0.289 3 101 --- --- --- --- RAI14 26064 broad.mit.edu 37 5 34826505 34826505 + Nonsense_Mutation SNP C C G TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr5:34826505C>G ENST00000265109.3 + 16 3007 c.2720C>G c.(2719-2721)tCa>tGa p.S907* RAI14_ENST00000397449.1_Nonsense_Mutation_p.S900*|RAI14_ENST00000512629.1_Nonsense_Mutation_p.S878*|RAI14_ENST00000428746.2_Nonsense_Mutation_p.S907*|RAI14_ENST00000506376.1_Nonsense_Mutation_p.S899*|RAI14_ENST00000515799.1_Nonsense_Mutation_p.S910*|RAI14_ENST00000503673.1_Nonsense_Mutation_p.S907* NM_001145522.1|NM_015577.2 NP_001138994.1|NP_056392.2 Q9P0K7 RAI14_HUMAN retinoic acid induced 14 907 cell cortex|cytoskeleton protein binding p.S907*(1) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(31;0.000191) CTCTCCTACTCAACAAGCTCA 0.512 28 67 --- --- --- --- SLCO6A1 133482 broad.mit.edu 37 5 101813486 101813486 + Silent SNP G G A rs145273103 TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr5:101813486G>A ENST00000506729.1 - 3 867 c.696C>T c.(694-696)ttC>ttT p.F232F SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000389019.3_Intron|SLCO6A1_ENST00000379807.3_Silent_p.F232F|SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000514551.1_Intron Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, member 6A1 232 integral to membrane|plasma membrane transporter activity p.F232F(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) GCCCAAGGATGAAGAAAGACA 0.383 77 206 --- --- --- --- ADAMTS19 171019 broad.mit.edu 37 5 128957923 128957923 + Missense_Mutation SNP A A C TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr5:128957923A>C ENST00000274487.4 + 10 1779 c.1634A>C c.(1633-1635)aAt>aCt p.N545T CTC-575N7.1_ENST00000503616.1_RNA NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 545 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.N545T(2) NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) CTACAAACAAATCCGCAGAGT 0.428 28 70 --- --- --- --- HIST1H4K 8362 broad.mit.edu 37 6 27799301 27799301 + Missense_Mutation SNP G G C TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr6:27799301G>C ENST00000357549.2 - 1 4 c.5C>G c.(4-6)tCt>tGt p.S2C NM_003541.2 NP_003532.1 P62805 H4_HUMAN histone cluster 1, H4k 2 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding p.S2C(1) breast(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1) 7 GCCGCGGCCAGACATGACGAG 0.592 16 68 --- --- --- --- PTK7 5754 broad.mit.edu 37 6 43106701 43106701 + Missense_Mutation SNP A A G TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr6:43106701A>G ENST00000230419.4 + 8 1564 c.1343A>G c.(1342-1344)aAc>aGc p.N448S PTK7_ENST00000349241.2_Intron|PTK7_ENST00000352931.2_Missense_Mutation_p.N448S|PTK7_ENST00000481273.1_Missense_Mutation_p.N456S|PTK7_ENST00000345201.2_Missense_Mutation_p.N448S NM_002821.4 NP_002812.2 Q13308 PTK7_HUMAN protein tyrosine kinase 7 448 Ig-like C2-type 5. actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration cell-cell junction|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) TGGTACAGAAACCAGATGCTC 0.557 3 110 --- --- --- --- HCRTR2 3062 broad.mit.edu 37 6 55147206 55147206 + Missense_Mutation SNP G G A TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr6:55147206G>A ENST00000370862.3 + 7 1625 c.1289G>A c.(1288-1290)aGc>aAc p.S430N NM_001526.3 NP_001517.2 O43614 OX2R_HUMAN hypocretin (orexin) receptor 2 430 feeding behavior integral to plasma membrane neuropeptide receptor activity p.S430N(1) breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) ACTAGCATAAGCACACTCCCA 0.408 11 25 --- --- --- --- COPS6 10980 broad.mit.edu 37 7 99686977 99686977 + Silent SNP C C G TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr7:99686977C>G ENST00000303904.3 + 2 178 c.141C>G c.(139-141)gtC>gtG p.V47V COPS6_ENST00000418625.1_Silent_p.V46V NM_006833.4 NP_006824.2 Q7L5N1 CSN6_HUMAN COP9 signalosome subunit 6 47 MPN. cullin deneddylation|interspecies interaction between organisms cytoplasm|signalosome protein binding p.V47V(1) breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1) 12 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) STAD - Stomach adenocarcinoma(171;0.129) ATCCCCTTGTCATTCTCAACA 0.592 75 191 --- --- --- --- LRCH4 4034 broad.mit.edu 37 7 100172836 100172836 + Missense_Mutation SNP G G A TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr7:100172836G>A ENST00000310300.6 - 18 1998 c.1946C>T c.(1945-1947)gCc>gTc p.A649V LRCH4_ENST00000497245.1_Missense_Mutation_p.A197V NM_002319.3 NP_002310.2 O75427 LRCH4_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 4 649 CH. nervous system development PML body protein binding p.A649V(1) NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 23 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GGGCGGTAGGGCCTTGCCCCC 0.697 5 13 --- --- --- --- NKX3-1 4824 broad.mit.edu 37 8 23538909 23538909 + Missense_Mutation SNP T T C TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr8:23538909T>C ENST00000380871.4 - 2 567 c.530A>G c.(529-531)tAt>tGt p.Y177C NKX3-1_ENST00000523261.1_Missense_Mutation_p.Y102C NM_006167.3 NP_006158.2 Q99801 NKX31_HUMAN NK3 homeobox 1 177 negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter nucleus estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding p.Y177C(2) large_intestine(3)|lung(4)|prostate(5)|skin(2) 14 Prostate(55;0.114) Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708) CTTAGTCTTATAGCGTCTGTT 0.582 80 250 --- --- --- --- RP11-464F9.1 0 broad.mit.edu 37 10 75482316 75482316 + RNA SNP G G A TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr10:75482316G>A ENST00000399449.3 - 0 526 RP11-574K11.28_ENST00000580790.1_RNA|BMS1P4_ENST00000584747.1_RNA CCCAAAGCTGGCATCTATAAG 0.428 4 228 --- --- --- --- ATP2A2 488 broad.mit.edu 37 12 110765384 110765384 + Silent SNP T T A TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr12:110765384T>A ENST00000395494.2 + 7 1139 c.576T>A c.(574-576)gcT>gcA p.A192A ATP2A2_ENST00000539276.2_Silent_p.A219A|ATP2A2_ENST00000308664.6_Silent_p.A219A P16615 AT2A2_HUMAN ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 219 ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding p.A219A(1) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 38 CTGGGAAAGCTATGGGAGTGG 0.468 100 239 --- --- --- --- EEF1DP3 196549 broad.mit.edu 37 13 32527029 32527029 + RNA SNP C C A TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr13:32527029C>A ENST00000428783.1 + 0 729 TGCCCGGCCACTGGGCCACAG 0.642 10 19 --- --- --- --- NOVA1 4857 broad.mit.edu 37 14 26917506 26917506 + Missense_Mutation SNP T T A TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr14:26917506T>A ENST00000539517.2 - 5 1500 c.1183A>T c.(1183-1185)Acc>Tcc p.T395S NOVA1_ENST00000267422.7_Missense_Mutation_p.T273S|NOVA1_ENST00000465357.2_Missense_Mutation_p.T371S NM_002515.2 NP_002506.2 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 398 Ala-rich. locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding p.T395S(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(265;0.0135) TATCCATTGGTTGCAGCAGTA 0.522 13 36 --- --- --- --- DDHD1 80821 broad.mit.edu 37 14 53521264 53521264 + Missense_Mutation SNP A A G TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr14:53521264A>G ENST00000357758.3 - 11 2512 c.2329T>C c.(2329-2331)Tca>Cca p.S777P DDHD1_ENST00000395606.1_Missense_Mutation_p.S784P|DDHD1_ENST00000323669.5_Missense_Mutation_p.S777P NM_030637.2 NP_085140.2 Q8NEL9 DDHD1_HUMAN DDHD domain containing 1 777 DDHD. lipid catabolic process cytoplasm hydrolase activity|metal ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1) 25 Breast(41;0.037) GAGTCTTTTGATGTTTCAGAT 0.468 4 176 --- --- --- --- XAB2 56949 broad.mit.edu 37 19 7691147 7691147 + Nonsense_Mutation SNP C C A TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr19:7691147C>A ENST00000358368.4 - 5 569 c.532G>T c.(532-534)Gag>Tag p.E178* XAB2_ENST00000534844.1_Nonsense_Mutation_p.E175* NM_020196.2 NP_064581.2 Q9HCS7 SYF1_HUMAN XPA binding protein 2 178 transcription, DNA-dependent|transcription-coupled nucleotide-excision repair catalytic step 2 spliceosome|nucleoplasm protein binding breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 26 TCTGCACTCTCAGGACTCAGC 0.657 Direct reversal of damage;Nucleotide excision repair (NER) 4 211 --- --- --- --- OLFM2 93145 broad.mit.edu 37 19 9965490 9965490 + Missense_Mutation SNP C C T TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr19:9965490C>T ENST00000264833.4 - 6 922 c.737G>A c.(736-738)cGt>cAt p.R246H OLFM2_ENST00000590841.1_Missense_Mutation_p.R168H NM_058164.2 NP_477512.1 O95897 NOE2_HUMAN olfactomedin 2 246 Olfactomedin-like. extracellular region p.R246H(1) breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 31 TCCCAGGGTACGGAACTCCAG 0.612 6 23 --- --- --- --- NF2 4771 broad.mit.edu 37 22 30035110 30035110 + Missense_Mutation SNP C C T TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr22:30035110C>T ENST00000338641.4 + 3 713 c.272C>T c.(271-273)cCa>cTa p.P91L NF2_ENST00000361676.4_Missense_Mutation_p.P49L|NF2_ENST00000361452.4_Intron|NF2_ENST00000413209.2_Missense_Mutation_p.P91L|NF2_ENST00000361166.4_Missense_Mutation_p.P91L|NF2_ENST00000334961.7_Intron|NF2_ENST00000397789.3_Missense_Mutation_p.P91L|NF2_ENST00000403435.1_Missense_Mutation_p.P91L|NF2_ENST00000347330.5_Intron|NF2_ENST00000403999.3_Missense_Mutation_p.P91L|NF2_ENST00000353887.4_Intron NM_000268.3|NM_016418.5|NM_181832.2 NP_000259.1|NP_057502.2|NP_861970.1 P35240 MERL_HUMAN neurofibromin 2 (merlin) 91 FERM. actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane cytoskeletal protein binding|protein binding p.?(3)|p.H84_F100del(1)|p.V86_Q111>E(1)|p.P91L(1) NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 776 AAGGAAGAACCAGTCACCTTT 0.423 """D, Mis, N, F, S, O""" """meningioma, acoustic neuroma, renal """ """meningioma, acoustic neuroma""" Neurofibromatosis, type 2 35 88 --- --- --- --- RTCB 51493 broad.mit.edu 37 22 32794016 32794016 + Silent SNP A A G TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr22:32794016A>G ENST00000216038.5 - 7 824 c.726T>C c.(724-726)gcT>gcC p.A242A RTCB_ENST00000451746.2_Intron NM_014306.4 NP_055121.1 RNA 2',3'-cyclic phosphate and 5'-OH ligase p.A242A(1) TTTTTTTAGCAGCATACTCAT 0.458 45 136 --- --- --- --- ZNF182 7569 broad.mit.edu 37 X 47837103 47837103 + Missense_Mutation SNP G G T TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chrX:47837103G>T ENST00000396965.1 - 7 733 c.383C>A c.(382-384)aCa>aAa p.T128K ZNF182_ENST00000305127.6_Missense_Mutation_p.T128K|ZNF182_ENST00000376943.3_Missense_Mutation_p.T109K NM_001178099.1 NP_001171570.1 P17025 ZN182_HUMAN zinc finger protein 182 128 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.T128K(1) endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1) 22 GGTGATAATTGTTTTCTTGTC 0.388 6 63 --- --- --- --- MT-CO1 4512 broad.mit.edu 37 M 6709 6709 + Missense_Mutation SNP G G A TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chrM:6709G>A ENST00000361624.2 + 1 806 c.806G>A c.(805-807)gGa>gAa p.G269E mitochondrially encoded cytochrome c oxidase I breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3) 54 AGAACCATTTGGATACATAGG 0.393 2 1 --- --- --- --- IQCJ-SCHIP1 100505385 broad.mit.edu 37 3 158980372 158980373 + Frame_Shift_Ins INS - - G TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr3:158980372_158980373insG ENST00000485419.1 + 4 360_361 c.191_192insG c.(190-195)caggagfs p.E65fs IQCJ-SCHIP1_ENST00000476809.1_Frame_Shift_Ins_p.E38fs|IQCJ_ENST00000481796.1_3'UTR|IQCJ_ENST00000451172.1_Frame_Shift_Ins_p.E65fs|IQCJ_ENST00000482126.1_Frame_Shift_Ins_p.E38fs|IQCJ-SCHIP1_ENST00000467442.1_3'UTR|IQCJ_ENST00000397832.2_Frame_Shift_Ins_p.E65fs NM_001197113.1 NP_001184042.1 Q9P0W5 SCHI1_HUMAN 0 Ser-rich. cytoplasm identical protein binding|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7) 12 CTGCAGCGGCAGGAGCCCCTGG 0.540 7 250 --- --- --- --- FMNL3 91010 broad.mit.edu 37 12 50041517 50041519 + In_Frame_Del DEL GGG GGG - TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91139ac-56d3-49cd-852b-9732dfb3e77e f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0 g.chr12:50041517_50041519delGGG ENST00000335154.5 - 23 2978_2980 c.2745_2747delCCC c.(2743-2748)ttccca>tta p.915_916FP>L FMNL3_ENST00000550488.1_In_Frame_Del_p.914_915FP>L|FMNL3_ENST00000293590.5_In_Frame_Del_p.915_916FP>L|FMNL3_ENST00000352151.5_In_Frame_Del_p.864_865FP>L NM_175736.4 NP_783863.4 Q8IVF7 FMNL3_HUMAN formin-like 3 915 FH2. actin cytoskeleton organization actin binding|Rho GTPase binding breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1) 39 GACAAATACTGGGAAGAATACAG 0.512 17 92 --- --- --- ---