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 SCN1A 6323 broad.mit.edu 37 2 166900318 166900318 + Missense_Mutation SNP A A C TCGA-EM-A3SZ-01A-11D-A22Z-08 TCGA-EM-A3SZ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 114ee66b-9e70-492c-8644-43956553c557 cfb11db4-04a4-44ea-bf61-1518475fd677 g.chr2:166900318A>C ENST00000423058.2 - 11 1921 c.1904T>G c.(1903-1905)tTt>tGt p.F635C AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.F635C|SCN1A_ENST00000375405.3_Missense_Mutation_p.F635C|SCN1A_ENST00000303395.4_Missense_Mutation_p.F635C|AC010127.3_ENST00000595268.1_RNA NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 635 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) ATTCGCTGGAAACACTGCCAG 0.542000 6 67 0 0 1 0 0 VANGL1 81839 broad.mit.edu 37 1 116233873 116233873 + Missense_Mutation SNP T T G TCGA-EM-A3SZ-01A-11D-A22Z-08 TCGA-EM-A3SZ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 114ee66b-9e70-492c-8644-43956553c557 cfb11db4-04a4-44ea-bf61-1518475fd677 g.chr1:116233873T>G ENST00000355485.2 + 8 1719 c.1448T>G c.(1447-1449)cTt>cGt p.L483R VANGL1_ENST00000369510.3_Missense_Mutation_p.L481R|VANGL1_ENST00000369509.1_Missense_Mutation_p.L483R|VANGL1_ENST00000310260.3_Missense_Mutation_p.L483R NM_001172411.1|NM_138959.2 NP_001165882.1|NP_620409.1 Q8TAA9 VANG1_HUMAN VANGL planar cell polarity protein 1 483 multicellular organismal development integral to membrane protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1) 27 Lung SC(450;0.211) all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) GTGTTCGTCCTTAAGTGCTTG 0.448000 8 53 0 0 1 0 0 CTD-2620I22.1 0 broad.mit.edu 37 19 53472914 53472914 + RNA SNP A A G TCGA-EM-A3SZ-01A-11D-A22Z-08 TCGA-EM-A3SZ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 114ee66b-9e70-492c-8644-43956553c557 cfb11db4-04a4-44ea-bf61-1518475fd677 g.chr19:53472914A>G ENST00000600068.1 - 0 489 ZNF702P_ENST00000270443.4_RNA TTTGATTTTCAATTAAAAACC 0.338000 3 11 0 0 1 0 0 RP11-69H14.6 0 broad.mit.edu 37 15 22332570 22332570 + RNA SNP T T C TCGA-EM-A3SZ-01A-11D-A22Z-08 TCGA-EM-A3SZ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 114ee66b-9e70-492c-8644-43956553c557 cfb11db4-04a4-44ea-bf61-1518475fd677 g.chr15:22332570T>C ENST00000558896.1 + 0 377 CCCATGCTCATCTGCTCCAAT 0.398000 6 161 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12885059 12885059 + Missense_Mutation SNP C C G rs143004725 by1000genomes TCGA-EM-A3SZ-01A-11D-A22Z-08 TCGA-EM-A3SZ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 114ee66b-9e70-492c-8644-43956553c557 cfb11db4-04a4-44ea-bf61-1518475fd677 g.chr1:12885059C>G ENST00000535591.1 - 4 1247 c.1052G>C c.(1051-1053)tGc>tCc p.C351S NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 351 p.C351S(1) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 GGTGGCCATGCAGATGGGATT 0.532000 5 152 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166900322 166900322 + Missense_Mutation SNP C C G TCGA-EM-A3SZ-01A-11D-A22Z-08 TCGA-EM-A3SZ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 114ee66b-9e70-492c-8644-43956553c557 cfb11db4-04a4-44ea-bf61-1518475fd677 g.chr2:166900322C>G ENST00000423058.2 - 11 1917 c.1900G>C c.(1900-1902)Gtg>Ctg p.V634L AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.V634L|SCN1A_ENST00000375405.3_Missense_Mutation_p.V634L|SCN1A_ENST00000303395.4_Missense_Mutation_p.V634L|AC010127.3_ENST00000595268.1_RNA NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 634 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) GCTGGAAACACTGCCAGCATC 0.537000 6 68 0 0 1 0 0 APC 324 broad.mit.edu 37 5 112175616 112175616 + Missense_Mutation SNP C C A TCGA-EM-A3SZ-01A-11D-A22Z-08 TCGA-EM-A3SZ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 114ee66b-9e70-492c-8644-43956553c557 cfb11db4-04a4-44ea-bf61-1518475fd677 g.chr5:112175616C>A ENST00000457016.1 + 16 4705 c.4325C>A c.(4324-4326)cCt>cAt p.P1442H APC_ENST00000257430.4_Missense_Mutation_p.P1442H|APC_ENST00000508376.2_Missense_Mutation_p.P1442H|CTC-554D6.1_ENST00000520401.1_Intron P25054 APC_HUMAN adenomatous polyposis coli 1442 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.?(1)|p.P1442fs*31(1)|p.P1424fs*19(1)|p.K1192fs*3(1)|p.P1441fs*28(1)|p.S1436fs*22(1)|p.P1441fs*27(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) CCTCCACCACCTCCTCAAACA 0.473000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 3 40 1 1 1 1 0 BAGE2 85319 broad.mit.edu 37 21 11058340 11058340 + RNA SNP A A C rs28617310 by1000genomes TCGA-EM-A3SZ-01A-11D-A22Z-08 TCGA-EM-A3SZ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 114ee66b-9e70-492c-8644-43956553c557 cfb11db4-04a4-44ea-bf61-1518475fd677 g.chr21:11058340A>C ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GGGGTAAAGGAGAGAAATCTC 0.363000 6 106 0 0 1 0 0 ABCA4 24 broad.mit.edu 37 1 94512531 94512531 + Silent SNP G G A TCGA-EM-A3SZ-01A-11D-A22Z-08 TCGA-EM-A3SZ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 114ee66b-9e70-492c-8644-43956553c557 cfb11db4-04a4-44ea-bf61-1518475fd677 g.chr1:94512531G>A ENST00000370225.3 - 19 2948 c.2862C>T c.(2860-2862)taC>taT p.Y954Y ABCA4_ENST00000535735.1_Silent_p.Y880Y NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 954 ABC transporter 1. phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) TCTGGTTCTCGTAGAAGGTGA 0.552000 15 153 0 0 1 0 0 PRSS3P2 0 broad.mit.edu 37 7 142482242 142482242 + RNA SNP G G A rs143538588 by1000genomes TCGA-EM-A3SZ-01A-11D-A22Z-08 TCGA-EM-A3SZ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 114ee66b-9e70-492c-8644-43956553c557 cfb11db4-04a4-44ea-bf61-1518475fd677 g.chr7:142482242G>A ENST00000603901.1 + 0 622 NR_001296.3 GGTCTGCAATGGACAGCTTCA 0.493000 4 56 0 0 1 0 0 TLN2 83660 broad.mit.edu 37 15 63102170 63102170 + Missense_Mutation SNP C C A TCGA-EM-A3SZ-01A-11D-A22Z-08 TCGA-EM-A3SZ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 114ee66b-9e70-492c-8644-43956553c557 cfb11db4-04a4-44ea-bf61-1518475fd677 g.chr15:63102170C>A ENST00000561311.1 + 51 6940 c.6710C>A c.(6709-6711)gCc>gAc p.A2237D TLN2_ENST00000306829.6_Missense_Mutation_p.A2237D Q9Y4G6 TLN2_HUMAN talin 2 2237 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 AGAACCAGAGCCTTGCGTTTC 0.552000 3 19 0.0215528 0.0242469 1 1 0 CRISPLD2 83716 broad.mit.edu 37 16 84882990 84882990 + Splice_Site SNP G G A TCGA-EM-A3SZ-01A-11D-A22Z-08 TCGA-EM-A3SZ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 114ee66b-9e70-492c-8644-43956553c557 cfb11db4-04a4-44ea-bf61-1518475fd677 g.chr16:84882990G>A ENST00000262424.5 + 4 583 c.e4-1 CRISPLD2_ENST00000567845.1_Splice_Site|CRISPLD2_ENST00000566431.1_Splice_Site|CRISPLD2_ENST00000564567.1_Splice_Site NM_031476.3 NP_113664.1 Q9H0B8 CRLD2_HUMAN cysteine-rich secretory protein LCCL domain containing 2 extracellular region|transport vesicle endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1) 18 CTGCCCTGCAGGTATCGCTCT 0.642000 15 22 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37028425 37028425 + Missense_Mutation SNP A A G rs145580328 byFrequency TCGA-EM-A3SZ-01A-11D-A22Z-08 TCGA-EM-A3SZ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 114ee66b-9e70-492c-8644-43956553c557 cfb11db4-04a4-44ea-bf61-1518475fd677 g.chrX:37028425A>G ENST00000358047.3 + 1 1994 c.1942A>G c.(1942-1944)Aat>Gat p.N648D NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 648 p.N648D(7) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 GGAGCCTCCCAATACTGGAGT 0.642000 4 142 0 0 1 0 0 ZNF37A 7587 broad.mit.edu 37 10 38407191 38407191 + Missense_Mutation SNP C C G TCGA-EM-A3SZ-01A-11D-A22Z-08 TCGA-EM-A3SZ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 114ee66b-9e70-492c-8644-43956553c557 cfb11db4-04a4-44ea-bf61-1518475fd677 g.chr10:38407191C>G ENST00000351773.3 + 8 1942 c.1112C>G c.(1111-1113)aCt>aGt p.T371S ZNF37A_ENST00000361085.4_Missense_Mutation_p.T371S NM_001007094.2 NP_001007095.1 P17032 ZN37A_HUMAN zinc finger protein 37A 371 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1) 28 TCAGTCCTTACTGTGCATCAG 0.408000 4 73 0 0 1 0 0 RP11-69H14.6 0 broad.mit.edu 37 15 22332432 22332432 + RNA SNP C C T TCGA-EM-A3SZ-01A-11D-A22Z-08 TCGA-EM-A3SZ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 114ee66b-9e70-492c-8644-43956553c557 cfb11db4-04a4-44ea-bf61-1518475fd677 g.chr15:22332432C>T ENST00000558896.1 + 0 239 AAGATTCTAACGTGACAGAAC 0.343000 4 67 0 0 1 0 0 ZNF629 23361 broad.mit.edu 37 16 30794482 30794482 + Missense_Mutation SNP C C A TCGA-EM-A3SZ-01A-11D-A22Z-08 TCGA-EM-A3SZ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 114ee66b-9e70-492c-8644-43956553c557 cfb11db4-04a4-44ea-bf61-1518475fd677 g.chr16:30794482C>A ENST00000262525.4 - 3 1374 c.1167G>T c.(1165-1167)ttG>ttT p.L389F NM_001080417.1 NP_001073886.1 Q9UEG4 ZN629_HUMAN zinc finger protein 629 389 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1) 22 Colorectal(24;0.198) GGTGCCGCAGCAACGTGGCGC 0.652000 3 25 0.115264 0.125743 1 1 0 TLE4 7091 broad.mit.edu 37 9 82321667 82321667 + Silent SNP A A G TCGA-EM-A3SZ-01A-11D-A22Z-08 TCGA-EM-A3SZ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 114ee66b-9e70-492c-8644-43956553c557 cfb11db4-04a4-44ea-bf61-1518475fd677 g.chr9:82321667A>G ENST00000376520.4 + 11 1617 c.789A>G c.(787-789)ccA>ccG p.P263P TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376537.4_Silent_p.P263P|TLE4_ENST00000376544.3_Intron|TLE4_ENST00000376552.2_Silent_p.P263P|TLE4_ENST00000265284.6_Silent_p.P238P O60756 BCE1_HUMAN transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) 0 breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 TGTAGGATCCATCTTCCCCTC 0.493000 28 53 0 0 1 0 0 GYPE 2996 broad.mit.edu 37 4 144826671 144826671 + Translation_Start_Site SNP C C T TCGA-EM-A3SZ-01A-11D-A22Z-08 TCGA-EM-A3SZ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 114ee66b-9e70-492c-8644-43956553c557 cfb11db4-04a4-44ea-bf61-1518475fd677 g.chr4:144826671C>T ENST00000358615.4 - 0 41 GYPE_ENST00000437468.2_De_novo_Start_OutOfFrame NM_198682.2 NP_941391.2 P15421 GLPE_HUMAN glycophorin E (MNS blood group) integral to plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 5 all_hematologic(180;0.158) CCTGAGATCACGAGCTGGCTC 0.398000 3 37 0 0 1 0 0 ALG1L2 0 broad.mit.edu 37 3 129817144 129817144 + RNA SNP G G T TCGA-EM-A3SZ-01A-11D-A22Z-08 TCGA-EM-A3SZ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 114ee66b-9e70-492c-8644-43956553c557 cfb11db4-04a4-44ea-bf61-1518475fd677 g.chr3:129817144G>T ENST00000507643.1 + 0 726 C9J202 AG1L2_HUMAN biosynthetic process transferase activity, transferring glycosyl groups TGCGGGAGTCGCAGCAGCTCT 0.527000 4 31 0.00198382 0.00230379 1 1 0 EP400 57634 broad.mit.edu 37 12 132472421 132472421 + Missense_Mutation SNP G G T TCGA-EM-A3SZ-01A-11D-A22Z-08 TCGA-EM-A3SZ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 114ee66b-9e70-492c-8644-43956553c557 cfb11db4-04a4-44ea-bf61-1518475fd677 g.chr12:132472421G>T ENST00000333577.4 + 8 2612 c.2503G>T c.(2503-2505)Gct>Tct p.A835S EP400_ENST00000389561.2_Missense_Mutation_p.A799S|EP400_ENST00000330386.6_Missense_Mutation_p.A799S|EP400_ENST00000389562.2_Missense_Mutation_p.A798S|EP400_ENST00000332482.4_Missense_Mutation_p.A762S Q96L91 EP400_HUMAN E1A binding protein p400 835 HSA. 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) GTGGAAGGTGGCTGCTGCGAA 0.612000 3 20 1 1 1 1 0 ZNF234 10780 broad.mit.edu 37 19 44660699 44660699 + Missense_Mutation SNP C C A TCGA-EM-A3SZ-01A-11D-A22Z-08 TCGA-EM-A3SZ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 114ee66b-9e70-492c-8644-43956553c557 cfb11db4-04a4-44ea-bf61-1518475fd677 g.chr19:44660699C>A ENST00000426739.2 + 6 788 c.530C>A c.(529-531)aCa>aAa p.T177K ZNF234_ENST00000592437.1_Missense_Mutation_p.T177K NM_006630.2 NP_006621.1 Q14588 ZN234_HUMAN zinc finger protein 234 177 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1) 23 Prostate(69;0.0435) AAGTCTCATACATGTGATGAG 0.393000 16 102 5.01169e-05 6.22141e-05 1 1 0 BAGE2 85319 broad.mit.edu 37 21 11058348 11058348 + RNA SNP C C A TCGA-EM-A3SZ-01A-11D-A22Z-08 TCGA-EM-A3SZ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 114ee66b-9e70-492c-8644-43956553c557 cfb11db4-04a4-44ea-bf61-1518475fd677 g.chr21:11058348C>A ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GGAGAGAAATCTCTTTATAAA 0.343000 6 90 8.12818e-05 9.75382e-05 1 1 0 NAA30 122830 broad.mit.edu 37 14 57863556 57863556 + Missense_Mutation SNP G G T TCGA-EM-A3SZ-01A-11D-A22Z-08 TCGA-EM-A3SZ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 114ee66b-9e70-492c-8644-43956553c557 cfb11db4-04a4-44ea-bf61-1518475fd677 g.chr14:57863556G>T ENST00000556492.1 + 3 1012 c.858G>T c.(856-858)atG>atT p.M286I NAA30_ENST00000555166.1_Missense_Mutation_p.M28I|NAA30_ENST00000554703.1_Missense_Mutation_p.M28I NM_001011713.2 NP_001011713.2 Q147X3 NAA30_HUMAN N(alpha)-acetyltransferase 30, NatC catalytic subunit 286 N-acetyltransferase. cytoplasm peptide alpha-N-acetyltransferase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2) 13 ATATAGCCATGTTAGCCGTGG 0.373000 9 36 3.09899e-07 3.98441e-07 1 1 0 ALG1L2 0 broad.mit.edu 37 3 129817138 129817138 + RNA SNP G G A TCGA-EM-A3SZ-01A-11D-A22Z-08 TCGA-EM-A3SZ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 114ee66b-9e70-492c-8644-43956553c557 cfb11db4-04a4-44ea-bf61-1518475fd677 g.chr3:129817138G>A ENST00000507643.1 + 0 720 C9J202 AG1L2_HUMAN biosynthetic process transferase activity, transferring glycosyl groups AGAACCTGCGGGAGTCGCAGC 0.522000 4 32 0 0 1 0 0 ABLIM2 84448 broad.mit.edu 37 4 7985069 7985069 + Missense_Mutation SNP G G C TCGA-EM-A3SZ-01A-11D-A22Z-08 TCGA-EM-A3SZ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 114ee66b-9e70-492c-8644-43956553c557 cfb11db4-04a4-44ea-bf61-1518475fd677 g.chr4:7985069G>C ENST00000318888.4 - 19 1720 c.849C>G c.(847-849)atC>atG p.I283M ABLIM2_ENST00000546334.1_Missense_Mutation_p.I468M|ABLIM2_ENST00000447017.2_Missense_Mutation_p.I582M|ABLIM2_ENST00000505872.1_Missense_Mutation_p.I496M|ABLIM2_ENST00000407564.3_Missense_Mutation_p.I458M|ABLIM2_ENST00000296372.8_Missense_Mutation_p.I510M|ABLIM2_ENST00000341937.5_Missense_Mutation_p.I548M|ABLIM2_ENST00000361737.5_Missense_Mutation_p.I468M|ABLIM2_ENST00000361581.5_Missense_Mutation_p.I509M|ABLIM2_ENST00000514025.1_Missense_Mutation_p.I283M|ABLIM2_ENST00000545242.1_Missense_Mutation_p.I508M Q6H8Q1 ABLM2_HUMAN actin binding LIM protein family, member 2 548 axon guidance|cytoskeleton organization actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus actin binding|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1) 25 CATACGGATAGATCTGTTGGG 0.552000 9 8 0 0 1 0 0 TRIM48 79097 broad.mit.edu 37 11 55032442 55032442 + Silent SNP C C T TCGA-EM-A3SZ-01A-11D-A22Z-08 TCGA-EM-A3SZ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 114ee66b-9e70-492c-8644-43956553c557 cfb11db4-04a4-44ea-bf61-1518475fd677 g.chr11:55032442C>T ENST00000417545.2 + 2 197 c.111C>T c.(109-111)taC>taT p.Y37Y NM_024114.3 NP_077019.2 Q8IWZ4 TRI48_HUMAN tripartite motif containing 48 21 intracellular zinc ion binding endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 GCATGAACTACTTCATAGACC 0.478000 9 174 0 0 1 0 0 ALG1L2 0 broad.mit.edu 37 3 129817127 129817127 + RNA SNP A A C TCGA-EM-A3SZ-01A-11D-A22Z-08 TCGA-EM-A3SZ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 114ee66b-9e70-492c-8644-43956553c557 cfb11db4-04a4-44ea-bf61-1518475fd677 g.chr3:129817127A>C ENST00000507643.1 + 0 709 C9J202 AG1L2_HUMAN biosynthetic process transferase activity, transferring glycosyl groups CCAGTTCCGGAAGAACCTGCG 0.522000 4 31 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994614 140994614 + Missense_Mutation SNP A A T TCGA-EM-A3SZ-01A-11D-A22Z-08 TCGA-EM-A3SZ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 114ee66b-9e70-492c-8644-43956553c557 cfb11db4-04a4-44ea-bf61-1518475fd677 g.chrX:140994614A>T ENST00000285879.4 + 4 1710 c.1424A>T c.(1423-1425)cAg>cTg p.Q475L MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 475 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) GGTTTTCCCCAGTCTCCTCTC 0.478000 HNSCC(15;0.026) 82 167 0 0 1 0 0 CILP 8483 broad.mit.edu 37 15 65499273 65499273 + Missense_Mutation SNP G G A rs148640463 TCGA-EM-A3SZ-01A-11D-A22Z-08 TCGA-EM-A3SZ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 114ee66b-9e70-492c-8644-43956553c557 cfb11db4-04a4-44ea-bf61-1518475fd677 g.chr15:65499273G>A ENST00000261883.4 - 4 437 c.271C>T c.(271-273)Cgg>Tgg p.R91W NM_003613.3 NP_003604.3 O75339 CILP1_HUMAN cartilage intermediate layer protein, nucleotide pyrophosphohydrolase 91 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 GCCTCTAGCCGCAGGGGACGG 0.617000 3 22 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EM-A3SZ-01A-11D-A22Z-08 TCGA-EM-A3SZ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 114ee66b-9e70-492c-8644-43956553c557 cfb11db4-04a4-44ea-bf61-1518475fd677 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 11 28 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79325961 79325961 + Missense_Mutation SNP T T C TCGA-EM-A3SZ-01A-11D-A22Z-08 TCGA-EM-A3SZ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 114ee66b-9e70-492c-8644-43956553c557 cfb11db4-04a4-44ea-bf61-1518475fd677 g.chr9:79325961T>C ENST00000428286.1 - 8 1352 c.152A>G c.(151-153)aAt>aGt p.N51S PRUNE2_ENST00000376718.3_Missense_Mutation_p.N410S Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 410 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 GTTAGAATCATTGAGATCTGG 0.512000 3 26 0 0 1 0 0 TRIM33 51592 broad.mit.edu 37 1 114952912 114952912 + Missense_Mutation SNP T T G TCGA-EM-A3SZ-01A-11D-A22Z-08 TCGA-EM-A3SZ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 114ee66b-9e70-492c-8644-43956553c557 cfb11db4-04a4-44ea-bf61-1518475fd677 g.chr1:114952912T>G ENST00000358465.2 - 12 2171 c.2088A>C c.(2086-2088)ttA>ttC p.L696F TRIM33_ENST00000450349.2_Missense_Mutation_p.L328F|TRIM33_ENST00000369543.2_Missense_Mutation_p.L696F NM_015906.3 NP_056990.3 Q9UPN9 TRI33_HUMAN tripartite motif containing 33 696 L -> S (in dbSNP:rs56151583). negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent nucleus co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 48 all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184) all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTAGATTATCTAAACTACTTG 0.413000 T RET papillary thyroid 11 27 0 0 1 0 0 MORN5 254956 broad.mit.edu 37 9 124936866 124936866 + Missense_Mutation SNP G G T TCGA-EM-A3SZ-01A-11D-A22Z-08 TCGA-EM-A3SZ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 114ee66b-9e70-492c-8644-43956553c557 cfb11db4-04a4-44ea-bf61-1518475fd677 g.chr9:124936866G>T ENST00000536616.1 + 4 437 c.399G>T c.(397-399)agG>agT p.R133S MORN5_ENST00000373764.3_Missense_Mutation_p.R133S|MORN5_ENST00000486801.1_3'UTR Q5VZ52 MORN5_HUMAN MORN repeat containing 5 133 endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 9 CAGTCACGAGGGTAGTCAAGG 0.468000 6 68 2.7689e-08 3.69186e-08 1 1 0 BAGE2 85319 broad.mit.edu 37 21 11058248 11058248 + RNA SNP G G A rs8130203 by1000genomes TCGA-EM-A3SZ-01A-11D-A22Z-08 TCGA-EM-A3SZ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 114ee66b-9e70-492c-8644-43956553c557 cfb11db4-04a4-44ea-bf61-1518475fd677 g.chr21:11058248G>A ENST00000470054.1 - 0 399 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GCAGCACAAGGATAATGATAC 0.433000 4 78 0 0 1 0 0 ZNF639 51193 broad.mit.edu 37 3 179051912 179051913 + Frame_Shift_Ins INS - - A TCGA-EM-A3SZ-01A-11D-A22Z-08 TCGA-EM-A3SZ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 114ee66b-9e70-492c-8644-43956553c557 cfb11db4-04a4-44ea-bf61-1518475fd677 g.chr3:179051912_179051913insA ENST00000326361.3 + 7 1605_1606 c.1160_1161insA c.(1159-1161)aaafs p.K387fs ZNF639_ENST00000484866.1_Frame_Shift_Ins_p.K387fs|ZNF639_ENST00000496856.1_Frame_Shift_Ins_p.K387fs NM_016331.1 NP_057415.1 Q9UID6 ZN639_HUMAN zinc finger protein 639 387 Interaction with CTNNA2. initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent nucleus protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1) 16 all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923) AGACTTCACACAAATGTTAACA 0.356 29 107 --- --- --- --- INTS4L2 0 broad.mit.edu 37 7 65150817 65150817 + RNA DEL C C - TCGA-EM-A3SZ-01A-11D-A22Z-08 TCGA-EM-A3SZ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 114ee66b-9e70-492c-8644-43956553c557 cfb11db4-04a4-44ea-bf61-1518475fd677 g.chr7:65150817delC ENST00000430126.2 + 0 757 TCATCCCTCACCCCCCCCCCC 0.468 4 7 --- --- --- --- AZGP1P1 0 broad.mit.edu 37 7 99578706 99578706 + RNA DEL A A - TCGA-EM-A3SZ-01A-11D-A22Z-08 TCGA-EM-A3SZ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 114ee66b-9e70-492c-8644-43956553c557 cfb11db4-04a4-44ea-bf61-1518475fd677 g.chr7:99578706delA ENST00000425474.1 + 0 87 NR_036679.1 cttagtttacagtgaaaacaa 0.522 2 4 --- --- --- --- OTUD6B 51633 broad.mit.edu 37 8 92096277 92096277 + Frame_Shift_Del DEL A A - TCGA-EM-A3SZ-01A-11D-A22Z-08 TCGA-EM-A3SZ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 114ee66b-9e70-492c-8644-43956553c557 cfb11db4-04a4-44ea-bf61-1518475fd677 g.chr8:92096277delA ENST00000285420.4 + 6 921 c.822delA c.(820-822)atfs p.I275fs OTUD6B_ENST00000404789.3_Frame_Shift_Del_p.I144fs NM_016023.3 NP_057107.3 Q8N6M0 OTU6B_HUMAN OTU domain containing 6B 245 OTU. endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2) 11 BRCA - Breast invasive adenocarcinoma(11;0.0187) CAATAGAGATAATACAGGCAG 0.294 2 4 --- --- --- --- MRGPRX4 117196 broad.mit.edu 37 11 18195357 18195357 + Frame_Shift_Del DEL T T - TCGA-EM-A3SZ-01A-11D-A22Z-08 TCGA-EM-A3SZ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 114ee66b-9e70-492c-8644-43956553c557 cfb11db4-04a4-44ea-bf61-1518475fd677 g.chr11:18195357delT ENST00000314254.3 + 1 974 c.554delT c.(553-555)atfs p.I185fs RP11-113D6.6_ENST00000527671.1_Intron NM_054032.3 NP_473373.2 Q96LA9 MRGX4_HUMAN MAS-related GPR, member X4 185 integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 GCGTGGCTGATTTTTTTATGT 0.507 17 131 --- --- --- --- AVIL 10677 broad.mit.edu 37 12 58209957 58209958 + Translation_Start_Site INS - - TGG TCGA-EM-A3SZ-01A-11D-A22Z-08 TCGA-EM-A3SZ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 114ee66b-9e70-492c-8644-43956553c557 cfb11db4-04a4-44ea-bf61-1518475fd677 g.chr12:58209957_58209958insTGG ENST00000257861.3 - 0 296_297 NM_006576.3 NP_006567.3 O75366 AVIL_HUMAN advillin actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development actin cytoskeleton|axon|cytoplasm actin binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6) 32 Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) CCACACCCTCATGGTGCATCCC 0.540 4 2 --- --- --- --- GOLGA6B 55889 broad.mit.edu 37 15 72957311 72957313 + In_Frame_Del DEL GAG GAG - TCGA-EM-A3SZ-01A-11D-A22Z-08 TCGA-EM-A3SZ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 114ee66b-9e70-492c-8644-43956553c557 cfb11db4-04a4-44ea-bf61-1518475fd677 g.chr15:72957311_72957313delGAG ENST00000421285.3 + 14 1528_1530 c.1528_1530delGAG c.(1528-1530)del p.E513del NM_018652.4 NP_061122.4 A6NDN3 GOG6B_HUMAN golgin A6 family, member B 513 NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 16 TCTGGACAGTGAGGAGGAGGAGG 0.635 5 6 --- --- --- --- ABCA17P 0 broad.mit.edu 37 16 2474780 2474780 + RNA DEL C C - TCGA-EM-A3SZ-01A-11D-A22Z-08 TCGA-EM-A3SZ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 114ee66b-9e70-492c-8644-43956553c557 cfb11db4-04a4-44ea-bf61-1518475fd677 g.chr16:2474780delC ENST00000469908.1 + 0 2937 NR_003574.1 TGTGTGCCGGCCCCGGCAGCC 0.672 2 4 --- --- --- --- RP11-44F14.1 0 broad.mit.edu 37 16 53404542 53404543 + RNA INS - - A TCGA-EM-A3SZ-01A-11D-A22Z-08 TCGA-EM-A3SZ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 114ee66b-9e70-492c-8644-43956553c557 cfb11db4-04a4-44ea-bf61-1518475fd677 g.chr16:53404542_53404543insA ENST00000565421.1 - 0 410 TCTCCTTTCTCAAACTTAACCT 0.327 7 19 --- --- --- --- CCDC9 26093 broad.mit.edu 37 19 47768151 47768151 + Frame_Shift_Del DEL G G - TCGA-EM-A3SZ-01A-11D-A22Z-08 TCGA-EM-A3SZ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 114ee66b-9e70-492c-8644-43956553c557 cfb11db4-04a4-44ea-bf61-1518475fd677 g.chr19:47768151delG ENST00000221922.6 + 7 890 c.668delG c.(667-669)tgfs p.W223fs NM_015603.2 NP_056418.1 Q9Y3X0 CCDC9_HUMAN coiled-coil domain containing 9 223 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1) 12 all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114) OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183) GGCCGCAACTGGGGGGGCCCC 0.721 3 4 --- --- --- ---