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 KIF21B 23046 broad.mit.edu 37 1 200944674 200944674 + Missense_Mutation SNP C C T TCGA-DE-A4MA-01A-11D-A257-08 TCGA-DE-A4MA-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a49cc232-3f8a-48fd-b75a-5956c7adc2e8 b9997f86-3401-481d-bd98-a3336618aa57 g.chr1:200944674C>T ENST00000332129.2 - 32 4844 c.4528G>A c.(4528-4530)Gat>Aat p.D1510N KIF21B_ENST00000360529.5_Missense_Mutation_p.D1510N|KIF21B_ENST00000422435.2_Missense_Mutation_p.D1523N|KIF21B_ENST00000461742.2_Missense_Mutation_p.D1523N NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 1523 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 ATGCCGTTATCTCGGGAGCCA 0.597000 31 37 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16956406 16956406 + RNA SNP G G T TCGA-DE-A4MA-01A-11D-A257-08 TCGA-DE-A4MA-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a49cc232-3f8a-48fd-b75a-5956c7adc2e8 b9997f86-3401-481d-bd98-a3336618aa57 g.chr1:16956406G>T ENST00000412962.1 - 0 294 tgatctgcacgcctcggcctc 0.478000 3 4 0.115264 0.121668 1 1 0 GIF 2694 broad.mit.edu 37 11 59608637 59608637 + Nonsense_Mutation SNP G G C TCGA-DE-A4MA-01A-11D-A257-08 TCGA-DE-A4MA-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a49cc232-3f8a-48fd-b75a-5956c7adc2e8 b9997f86-3401-481d-bd98-a3336618aa57 g.chr11:59608637G>C ENST00000541311.1 - 5 831 c.597C>G c.(595-597)taC>taG p.Y199* GIF_ENST00000257248.2_Nonsense_Mutation_p.Y224* P27352 IF_HUMAN gastric intrinsic factor (vitamin B synthesis) 224 cobalamin metabolic process|cobalamin transport|cobalt ion transport apical plasma membrane|endosome|extracellular space|microvillus cobalamin binding large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 17 GGCCAGTACTGTAGATGTCTC 0.468000 10 91 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274214 39274214 + Missense_Mutation SNP G G C TCGA-DE-A4MA-01A-11D-A257-08 TCGA-DE-A4MA-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a49cc232-3f8a-48fd-b75a-5956c7adc2e8 b9997f86-3401-481d-bd98-a3336618aa57 g.chr17:39274214G>C ENST00000391413.2 - 1 392 c.354C>G c.(352-354)agC>agG p.S118R NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 118 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) gtctgcagcagctggacacac 0.652000 4 51 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16946393 16946393 + RNA SNP G G A TCGA-DE-A4MA-01A-11D-A257-08 TCGA-DE-A4MA-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a49cc232-3f8a-48fd-b75a-5956c7adc2e8 b9997f86-3401-481d-bd98-a3336618aa57 g.chr1:16946393G>A ENST00000412962.1 - 0 1126 TCCTGCTGCAGGGCAGCAATC 0.662000 11 19 0 0 1 0 0 SYNPO2L 79933 broad.mit.edu 37 10 75406952 75406952 + Missense_Mutation SNP A A G TCGA-DE-A4MA-01A-11D-A257-08 TCGA-DE-A4MA-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a49cc232-3f8a-48fd-b75a-5956c7adc2e8 b9997f86-3401-481d-bd98-a3336618aa57 g.chr10:75406952A>G ENST00000394810.2 - 4 2607 c.2458T>C c.(2458-2460)Ttt>Ctt p.F820L SYNPO2L_ENST00000372872.4_Intron|SYNPO2L_ENST00000372873.4_Missense_Mutation_p.F596L NM_001114133.1 NP_001107605.1 Q9H987 SYP2L_HUMAN synaptopodin 2-like 820 Pro-rich. cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Prostate(51;0.0112) TGGGGGAAAAAGGGAGAGAGC 0.577000 4 152 0 0 1 0 0 LILRB5 0 broad.mit.edu 37 19 54754901 54754901 + Silent SNP T T C TCGA-DE-A4MA-01A-11D-A257-08 TCGA-DE-A4MA-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a49cc232-3f8a-48fd-b75a-5956c7adc2e8 b9997f86-3401-481d-bd98-a3336618aa57 g.chr19:54754901T>C ENST00000450632.1 - 13 1811 c.1734A>G c.(1732-1734)gcA>gcG p.A578A LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000449561.2_Intron O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 378 cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TGTCCTCTTCTGCCTGTCTGT 0.587000 5 39 0 0 1 0 0 LILRB5 0 broad.mit.edu 37 19 54754889 54754889 + Silent SNP T T C TCGA-DE-A4MA-01A-11D-A257-08 TCGA-DE-A4MA-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a49cc232-3f8a-48fd-b75a-5956c7adc2e8 b9997f86-3401-481d-bd98-a3336618aa57 g.chr19:54754889T>C ENST00000450632.1 - 13 1823 c.1746A>G c.(1744-1746)agA>agG p.R582R LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000449561.2_Intron O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 388 cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TGTCCATCTGTCTGTCCTCTT 0.597000 5 44 0 0 1 0 0 CELSR2 1952 broad.mit.edu 37 1 109795455 109795455 + Silent SNP C C T TCGA-DE-A4MA-01A-11D-A257-08 TCGA-DE-A4MA-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a49cc232-3f8a-48fd-b75a-5956c7adc2e8 b9997f86-3401-481d-bd98-a3336618aa57 g.chr1:109795455C>T ENST00000271332.3 + 1 2815 c.2754C>T c.(2752-2754)ccC>ccT p.P918P NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 918 Cadherin 7. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) ATGACAATCCCCCTGTCTTTG 0.562000 7 97 0 0 1 0 0 OR4P4 81300 broad.mit.edu 37 11 55406191 55406191 + Missense_Mutation SNP C C T TCGA-DE-A4MA-01A-11D-A257-08 TCGA-DE-A4MA-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a49cc232-3f8a-48fd-b75a-5956c7adc2e8 b9997f86-3401-481d-bd98-a3336618aa57 g.chr11:55406191C>T ENST00000314612.2 + 1 358 c.358C>T c.(358-360)Cgc>Tgc p.R120C NM_001004124.1 NP_001004124.1 Q8NGL7 OR4P4_HUMAN olfactory receptor, family 4, subfamily P, member 4 120 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1) 40 GGCCTATGACCGCTATGTGGC 0.403000 40 57 0 0 1 0 0 PPP2R1A 5518 broad.mit.edu 37 19 52719042 52719042 + Missense_Mutation SNP C C T TCGA-DE-A4MA-01A-11D-A257-08 TCGA-DE-A4MA-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a49cc232-3f8a-48fd-b75a-5956c7adc2e8 b9997f86-3401-481d-bd98-a3336618aa57 g.chr19:52719042C>T ENST00000322088.6 + 7 876 c.818C>T c.(817-819)gCa>gTa p.A273V PPP2R1A_ENST00000462990.1_Missense_Mutation_p.A94V|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.A218V NM_014225.5 NP_055040.2 P30153 2AAA_HUMAN protein phosphatase 2, regulatory subunit A, alpha 273 PP2A subunit B binding.|Polyoma small and medium T antigens Binding. ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 135 GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015) CTCCAGAAAGCAGTGGGGCCT 0.577000 Mis clear cell ovarian carcinoma 29 43 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-DE-A4MA-01A-11D-A257-08 TCGA-DE-A4MA-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a49cc232-3f8a-48fd-b75a-5956c7adc2e8 b9997f86-3401-481d-bd98-a3336618aa57 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000404276.1_Silent_p.S372S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 6 61 0 0 1 0 0 HIP1R 9026 broad.mit.edu 37 12 123343408 123343408 + Missense_Mutation SNP C C G TCGA-DE-A4MA-01A-11D-A257-08 TCGA-DE-A4MA-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a49cc232-3f8a-48fd-b75a-5956c7adc2e8 b9997f86-3401-481d-bd98-a3336618aa57 g.chr12:123343408C>G ENST00000253083.4 + 21 2199 c.2074C>G c.(2074-2076)Ctg>Gtg p.L692V NM_003959.1 NP_003950.1 O75146 HIP1R_HUMAN huntingtin interacting protein 1 related 692 receptor-mediated endocytosis clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm actin binding|phosphatidylinositol binding breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 26 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2) GGTGGCAGCTCTGACCCGCTT 0.672000 9 78 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587657 43587657 + RNA SNP C C T rs148404065 by1000genomes TCGA-DE-A4MA-01A-11D-A257-08 TCGA-DE-A4MA-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a49cc232-3f8a-48fd-b75a-5956c7adc2e8 b9997f86-3401-481d-bd98-a3336618aa57 g.chr17:43587657C>T ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GGTGACAACACATCTGTTTTA 0.323000 4 95 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11098863 11098863 + RNA SNP A A G rs75318310 by1000genomes TCGA-DE-A4MA-01A-11D-A257-08 TCGA-DE-A4MA-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a49cc232-3f8a-48fd-b75a-5956c7adc2e8 b9997f86-3401-481d-bd98-a3336618aa57 g.chr21:11098863A>G ENST00000470054.1 - 0 62 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) ccagcctccaactcccccttc 0.627000 5 36 0 0 1 0 0 WDR65 149465 broad.mit.edu 37 1 43663300 43663300 + Missense_Mutation SNP G G A TCGA-DE-A4MA-01A-11D-A257-08 TCGA-DE-A4MA-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a49cc232-3f8a-48fd-b75a-5956c7adc2e8 b9997f86-3401-481d-bd98-a3336618aa57 g.chr1:43663300G>A ENST00000372492.4 + 7 1523 c.1199G>A c.(1198-1200)cGc>cAc p.R400H WDR65_ENST00000528956.1_Missense_Mutation_p.R400H NM_001195831.2 NP_001182760.2 Q96MR6 WDR65_HUMAN WD repeat domain 65 400 p.R400H(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) ACCTGCATCCGCAAACCCCTT 0.458000 4 136 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-DE-A4MA-01A-11D-A257-08 TCGA-DE-A4MA-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a49cc232-3f8a-48fd-b75a-5956c7adc2e8 b9997f86-3401-481d-bd98-a3336618aa57 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 4 64 0 0 1 0 0 NLRP11 204801 broad.mit.edu 37 19 56321703 56321703 + Splice_Site SNP G G T TCGA-DE-A4MA-01A-11D-A257-08 TCGA-DE-A4MA-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a49cc232-3f8a-48fd-b75a-5956c7adc2e8 b9997f86-3401-481d-bd98-a3336618aa57 g.chr19:56321703G>T ENST00000443188.1 - 5 983 c.271_splice c.e5-1 p.R91_splice NLRP11_ENST00000592953.1_5'UTR|NLRP11_ENST00000360133.3_Splice_Site_p.R91_splice|NLRP11_ENST00000589093.1_Splice_Site_p.R91_splice|NLRP11_ENST00000589824.2_Splice_Site_p.R91_splice NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 91 DAPIN. ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) CCTCCTGATTGCCTAATCCAG 0.343000 22 21 3.62473e-10 3.93542e-10 1 1 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661208 22661208 + RNA SNP C C T TCGA-DE-A4MA-01A-11D-A257-08 TCGA-DE-A4MA-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a49cc232-3f8a-48fd-b75a-5956c7adc2e8 b9997f86-3401-481d-bd98-a3336618aa57 g.chr22:22661208C>T ENST00000426066.1 + 0 300 NR_027293.1 CTGAATCATGCAGAATTTGAA 0.408000 9 67 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628300 29628300 + Missense_Mutation SNP G G A TCGA-DE-A4MA-01A-11D-A257-08 TCGA-DE-A4MA-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a49cc232-3f8a-48fd-b75a-5956c7adc2e8 b9997f86-3401-481d-bd98-a3336618aa57 g.chr20:29628300G>A ENST00000278882.3 + 6 682 c.302G>A c.(301-303)aGt>aAt p.S101N FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N p.S101N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GAAGCAAAAAGTAAAACAGCA 0.358000 11 113 0 0 1 0 0 IGLV2-33 0 broad.mit.edu 37 22 22930899 22930899 + RNA SNP G G A TCGA-DE-A4MA-01A-11D-A257-08 TCGA-DE-A4MA-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a49cc232-3f8a-48fd-b75a-5956c7adc2e8 b9997f86-3401-481d-bd98-a3336618aa57 g.chr22:22930899G>A ENST00000390302.2 + 0 152 TGTGTCCGGGGCTCCTGGACA 0.562000 123 164 0 0 1 0 0 FSCN1 6624 broad.mit.edu 37 7 5632695 5632695 + Missense_Mutation SNP A A G TCGA-DE-A4MA-01A-11D-A257-08 TCGA-DE-A4MA-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a49cc232-3f8a-48fd-b75a-5956c7adc2e8 b9997f86-3401-481d-bd98-a3336618aa57 g.chr7:5632695A>G ENST00000382361.3 + 1 242 c.128A>G c.(127-129)aAg>aGg p.K43R FSCN1_ENST00000340250.6_Splice_Site_p.N43_splice NM_003088.3 NP_003079.1 Q16658 FSCN1_HUMAN fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus) 43 actin filament bundle assembly|cell migration|cell proliferation cell junction|cytoplasm|filopodium|invadopodium|stress fiber actin filament binding|drug binding|protein binding, bridging central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 9 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13) CTGAAGAAGAAGCAGATCTGG 0.672000 4 11 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DE-A4MA-01A-11D-A257-08 TCGA-DE-A4MA-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a49cc232-3f8a-48fd-b75a-5956c7adc2e8 b9997f86-3401-481d-bd98-a3336618aa57 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 28 39 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-DE-A4MA-01A-11D-A257-08 TCGA-DE-A4MA-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a49cc232-3f8a-48fd-b75a-5956c7adc2e8 b9997f86-3401-481d-bd98-a3336618aa57 g.chr19:58385546G>T ENST00000435989.2 - 3 1446 c.1212C>A c.(1210-1212)gaC>gaA p.D404E ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.D404E(10) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 AATGTTTTTTGTCAGTGTGAA 0.393000 3 16 1 1 1 1 0 ADAMTS7 11173 broad.mit.edu 37 15 79051886 79051886 + Silent SNP G G A TCGA-DE-A4MA-01A-11D-A257-08 TCGA-DE-A4MA-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a49cc232-3f8a-48fd-b75a-5956c7adc2e8 b9997f86-3401-481d-bd98-a3336618aa57 g.chr15:79051886G>A ENST00000388820.4 - 24 5148 c.4938C>T c.(4936-4938)tgC>tgT p.C1646C NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 1646 PLAC. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.C1646C(4) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 GCAGCGTCTCGCAGAACCCGA 0.701000 5 24 0 0 1 0 0 CTD-2049J23.2 0 broad.mit.edu 37 3 159820697 159820698 + RNA INS - - A rs145340132 by1000genomes TCGA-DE-A4MA-01A-11D-A257-08 TCGA-DE-A4MA-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a49cc232-3f8a-48fd-b75a-5956c7adc2e8 b9997f86-3401-481d-bd98-a3336618aa57 g.chr3:159820697_159820698insA ENST00000497452.1 - 0 517 TTGGAacagtgaaaaaaaaaag 0.277 6 6 --- --- --- --- MAML3 55534 broad.mit.edu 37 4 140811064 140811069 + In_Frame_Del DEL TGCTGC TGCTGC - rs71855026 TCGA-DE-A4MA-01A-11D-A257-08 TCGA-DE-A4MA-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a49cc232-3f8a-48fd-b75a-5956c7adc2e8 b9997f86-3401-481d-bd98-a3336618aa57 g.chr4:140811064_140811069delTGCTGC ENST00000509479.2 - 2 2377_2382 c.1521_1526delGCAGCA c.(1519-1527)caa>ca p.QQQ507del MAML3_ENST00000327122.5_In_Frame_Del_p.QQQ351del|MAML3_ENST00000398940.1_Splice_Site_p.37_splice NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 506 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) TGAGtgctgttgctgctgctgctgct 0.515 14 127 --- --- --- --- TRDN 10345 broad.mit.edu 37 6 123786033 123786033 + Frame_Shift_Del DEL A A - TCGA-DE-A4MA-01A-11D-A257-08 TCGA-DE-A4MA-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a49cc232-3f8a-48fd-b75a-5956c7adc2e8 b9997f86-3401-481d-bd98-a3336618aa57 g.chr6:123786033delA ENST00000546248.1 - 9 1022 c.889delT c.(889-891)ctfs p.S297fs TRDN_ENST00000334268.4_Intron|RP11-532N4.2_ENST00000418467.2_RNA|RP11-532N4.2_ENST00000427828.1_RNA|RP11-532N4.2_ENST00000589182.1_RNA|TRDN_ENST00000398178.3_Intron|RP11-532N4.2_ENST00000587106.1_RNA|RP11-532N4.2_ENST00000434768.1_RNA NM_001256020.1 NP_001242949.1 Q13061 TRDN_HUMAN triadin 0 muscle contraction integral to membrane|plasma membrane|sarcoplasmic reticulum membrane receptor binding NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 41 GBM - Glioblastoma multiforme(226;0.184) GATCTTTAAGAAAAAAAAAAG 0.388 3 4 --- --- --- --- SEPT7P2 0 broad.mit.edu 37 7 45776357 45776357 + RNA DEL T T - TCGA-DE-A4MA-01A-11D-A257-08 TCGA-DE-A4MA-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a49cc232-3f8a-48fd-b75a-5956c7adc2e8 b9997f86-3401-481d-bd98-a3336618aa57 g.chr7:45776357delT ENST00000429741.1 - 0 1217 AAAGAATACCTTTTTTTGGAG 0.323 2 4 --- --- --- --- INTS4L2 0 broad.mit.edu 37 7 65150816 65150817 + RNA INS - - C TCGA-DE-A4MA-01A-11D-A257-08 TCGA-DE-A4MA-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a49cc232-3f8a-48fd-b75a-5956c7adc2e8 b9997f86-3401-481d-bd98-a3336618aa57 g.chr7:65150816_65150817insC ENST00000430126.2 + 0 757 TTCATCCCTCACCCCCCCCCCC 0.465 3 4 --- --- --- --- CIZ1 25792 broad.mit.edu 37 9 130953109 130953111 + In_Frame_Del DEL GCT GCT - TCGA-DE-A4MA-01A-11D-A257-08 TCGA-DE-A4MA-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a49cc232-3f8a-48fd-b75a-5956c7adc2e8 b9997f86-3401-481d-bd98-a3336618aa57 g.chr9:130953109_130953111delGCT ENST00000538431.1 - 2 273_275 c.26_28delAGC c.(25-30)ctc>c p.QL9del CIZ1_ENST00000393608.1_In_Frame_Del_p.QL9del|CIZ1_ENST00000372938.5_In_Frame_Del_p.QL9del|CIZ1_ENST00000277465.4_In_Frame_Del_p.QL9del|CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000372948.3_In_Frame_Del_p.QL9del|CIZ1_ENST00000357558.5_In_Frame_Del_p.QL9del|CIZ1_ENST00000325721.8_In_Frame_Del_p.QL9del|CIZ1_ENST00000372954.1_In_Frame_Del_p.QL9del|CIZ1_ENST00000541172.1_5'UTR NM_001257975.1 NP_001244904.1 Q9ULV3 CIZ1_HUMAN CDKN1A interacting zinc finger protein 1 9 Gln-rich. Missing (in Ref. 7; AAF23231). nucleus nucleic acid binding|protein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2) 35 tgttgctggagctgctgctgctg 0.611 2 4 --- --- --- --- MBL1P 0 broad.mit.edu 37 10 81680656 81680656 + RNA DEL A A - TCGA-DE-A4MA-01A-11D-A257-08 TCGA-DE-A4MA-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a49cc232-3f8a-48fd-b75a-5956c7adc2e8 b9997f86-3401-481d-bd98-a3336618aa57 g.chr10:81680656delA ENST00000480805.1 + 0 723 NR_002724.2 GCTTTTGGGGAAAAAAAAAAG 0.542 3 5 --- --- --- --- MUC6 4588 broad.mit.edu 37 11 1017661 1017663 + In_Frame_Del DEL TGT TGT - rs72022620 TCGA-DE-A4MA-01A-11D-A257-08 TCGA-DE-A4MA-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a49cc232-3f8a-48fd-b75a-5956c7adc2e8 b9997f86-3401-481d-bd98-a3336618aa57 g.chr11:1017661_1017663delTGT ENST00000421673.2 - 31 5188_5190 c.5138_5140delACA c.(5137-5142)atc>a p.NI1713del NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 1713 Approximate repeats.|Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) TTGGGGGTGATGTTGGTGGTAGA 0.527 12 1159 --- --- --- --- RP11-597A11.6 0 broad.mit.edu 37 14 20146543 20146544 + RNA INS - - GTCCC rs60511353 TCGA-DE-A4MA-01A-11D-A257-08 TCGA-DE-A4MA-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a49cc232-3f8a-48fd-b75a-5956c7adc2e8 b9997f86-3401-481d-bd98-a3336618aa57 g.chr14:20146543_20146544insGTCCC ENST00000555580.1 - 0 225 CCAACTCAGCAGAACAGTGTCA 0.505 3 5 --- --- --- ---