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 ZAK 51776 broad.mit.edu 37 2 174085985 174085985 + Silent SNP C C T TCGA-SR-A6MU-01A-11D-A35I-08 TCGA-SR-A6MU-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3a73077-d1b2-4000-9184-0b300022c629 eca93414-506d-4dcc-948b-670ab178a569 g.chr2:174085985C>T ENST00000338983.3 + 12 1290 c.1095C>T c.(1093-1095)aaC>aaT p.N365N MLTK_ENST00000431503.2_Silent_p.N264N|MLTK_ENST00000409176.2_Intron|MLTK_ENST00000539448.1_Silent_p.N365N|MLTK_ENST00000375213.3_Intron|MLK7-AS1_ENST00000423106.2_RNA|MLK7-AS1_ENST00000422703.1_RNA NM_133646.2 NP_598407.1 CAACAAGTAACGGGGAGGGCC 0.478000 6 64 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145302714 145302714 + Silent SNP A A G rs9424867 TCGA-SR-A6MU-01A-11D-A35I-08 TCGA-SR-A6MU-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3a73077-d1b2-4000-9184-0b300022c629 eca93414-506d-4dcc-948b-670ab178a569 g.chr1:145302714A>G ENST00000342960.5 + 8 1187 c.1152A>G c.(1150-1152)ttA>ttG p.L384L RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 384 p.L113L(3)|p.L384L(3) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AGGAGAAGTTACGGGAAGGGA 0.527000 4 56 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 71103196 71103196 + Missense_Mutation SNP G G A rs140028548 TCGA-SR-A6MU-01A-11D-A35I-08 TCGA-SR-A6MU-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3a73077-d1b2-4000-9184-0b300022c629 eca93414-506d-4dcc-948b-670ab178a569 g.chr16:71103196G>A ENST00000393567.2 - 14 2098 c.1948C>T c.(1948-1950)Cgc>Tgc p.R650C HYDIN_ENST00000541601.1_Missense_Mutation_p.R667C|HYDIN_ENST00000538248.1_Missense_Mutation_p.R677C|HYDIN_ENST00000448691.1_Missense_Mutation_p.R650C|HYDIN_ENST00000448089.2_Missense_Mutation_p.R650C|HYDIN_ENST00000393550.2_Missense_Mutation_p.R665C|HYDIN_ENST00000321489.5_Missense_Mutation_p.R650C|HYDIN_ENST00000288168.10_Missense_Mutation_p.R667C NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 650 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) CCCTGGGGGCGAATGGTGCCA 0.488000 6 35 0 0 1 0 0 ATP6V0C 527 broad.mit.edu 37 16 2569716 2569716 + Silent SNP C C T TCGA-SR-A6MU-01A-11D-A35I-08 TCGA-SR-A6MU-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3a73077-d1b2-4000-9184-0b300022c629 eca93414-506d-4dcc-948b-670ab178a569 g.chr16:2569716C>T ENST00000330398.4 + 3 672 c.438C>T c.(436-438)ctC>ctT p.L146L ATP6V0C_ENST00000565223.1_Silent_p.L103L|ATP6C_ENST00000569317.1_Intron|ATP6V0C_ENST00000564973.1_Silent_p.L103L|RP11-20I23.1_ENST00000564543.1_3'UTR NM_001198569.1|NM_001694.3 NP_001185498.1|NP_001685.1 P27449 VATL_HUMAN ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c 146 ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|interspecies interaction between organisms|transferrin transport endosome membrane|integral to membrane|proton-transporting ATP synthase complex, coupling factor F(o)|proton-transporting V-type ATPase, V0 domain|vacuolar membrane hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism|ubiquitin protein ligase binding endometrium(1)|lung(1)|ovary(1) 3 Ovarian(90;0.17) TCTACGGTCTCATCGTCGCCC 0.597000 4 56 0 0 1 0 0 TCF19 6941 broad.mit.edu 37 6 31129467 31129467 + Missense_Mutation SNP G G A TCGA-SR-A6MU-01A-11D-A35I-08 TCGA-SR-A6MU-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3a73077-d1b2-4000-9184-0b300022c629 eca93414-506d-4dcc-948b-670ab178a569 g.chr6:31129467G>A ENST00000376257.3 + 3 1236 c.482G>A c.(481-483)cGg>cAg p.R161Q TCF19_ENST00000376255.4_Missense_Mutation_p.R161Q|TCF19_ENST00000496421.1_Intron NM_007109.2 NP_009040.2 Q9Y242 TCF19_HUMAN transcription factor 19 161 cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1) 9 GCTCCACAGCGGCCTCTCAGC 0.647000 6 38 0 0 1 0 0 C6orf58 352999 broad.mit.edu 37 6 127911362 127911362 + Nonsense_Mutation SNP C C T TCGA-SR-A6MU-01A-11D-A35I-08 TCGA-SR-A6MU-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3a73077-d1b2-4000-9184-0b300022c629 eca93414-506d-4dcc-948b-670ab178a569 g.chr6:127911362C>T ENST00000329722.7 + 5 817 c.805C>T c.(805-807)Cga>Tga p.R269* NM_001010905.1 NP_001010905.1 Q6P5S2 CF058_HUMAN chromosome 6 open reading frame 58 269 extracellular region kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1) 15 GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156) CATGCCACCACGAATTCTTCT 0.403000 9 117 0 0 1 0 0 ABCA9 10350 broad.mit.edu 37 17 66979978 66979978 + Silent SNP G G A TCGA-SR-A6MU-01A-11D-A35I-08 TCGA-SR-A6MU-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3a73077-d1b2-4000-9184-0b300022c629 eca93414-506d-4dcc-948b-670ab178a569 g.chr17:66979978G>A ENST00000340001.4 - 36 4723 c.4512C>T c.(4510-4512)tcC>tcT p.S1504S ABCA9_ENST00000370732.2_3'UTR|ABCA9_ENST00000453985.2_Silent_p.S1466S NM_080283.3 NP_525022.2 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A (ABC1), member 9 1504 ABC transporter 2. transport integral to membrane ATP binding|ATPase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 91 Breast(10;1.47e-12) GGTGTTGGATGGAACCAATAC 0.468000 3 55 0 0 1 0 0 SNORD3A 780851 broad.mit.edu 37 17 19091465 19091465 + RNA SNP G G C TCGA-SR-A6MU-01A-11D-A35I-08 TCGA-SR-A6MU-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3a73077-d1b2-4000-9184-0b300022c629 eca93414-506d-4dcc-948b-670ab178a569 g.chr17:19091465G>C ENST00000365494.1 + 0 137 gcgttgcttggctgcaactgc 0.517000 20 261 0 0 1 0 0 FAM187B 148109 broad.mit.edu 37 19 35718939 35718939 + Silent SNP G G A rs13382163 TCGA-SR-A6MU-01A-11D-A35I-08 TCGA-SR-A6MU-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3a73077-d1b2-4000-9184-0b300022c629 eca93414-506d-4dcc-948b-670ab178a569 g.chr19:35718939G>A ENST00000324675.3 - 1 693 c.645C>T c.(643-645)taC>taT p.Y215Y NM_152481.1 NP_689694.1 Q17R55 F187B_HUMAN family with sequence similarity 187, member B 215 integral to membrane p.Y215Y(1) breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2) 9 CAAAAATGACGTAATCCACCC 0.537000 3 22 0 0 1 0 0 NCOR1P1 149934 broad.mit.edu 37 20 26094557 26094557 + RNA SNP A A C TCGA-SR-A6MU-01A-11D-A35I-08 TCGA-SR-A6MU-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3a73077-d1b2-4000-9184-0b300022c629 eca93414-506d-4dcc-948b-670ab178a569 g.chr20:26094557A>C ENST00000478176.1 - 0 107 NR_003678.1 TTACAGAGTGAGGAGGATAAT 0.418000 3 16 0 0 1 0 0 GRIK1 2897 broad.mit.edu 37 21 30927396 30927396 + Missense_Mutation SNP G G A TCGA-SR-A6MU-01A-11D-A35I-08 TCGA-SR-A6MU-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3a73077-d1b2-4000-9184-0b300022c629 eca93414-506d-4dcc-948b-670ab178a569 g.chr21:30927396G>A ENST00000399914.1 - 15 3060 c.2539C>T c.(2539-2541)Cgg>Tgg p.R847W GRIK1_ENST00000309434.7_Missense_Mutation_p.R864W|GRIK1_ENST00000399913.1_Missense_Mutation_p.R862W|GRIK1_ENST00000389124.2_Missense_Mutation_p.R862W|GRIK1_ENST00000389125.3_Missense_Mutation_p.R847W|GRIK1_ENST00000399909.1_Missense_Mutation_p.R847W|GRIK1_ENST00000399907.1_Missense_Mutation_p.R862W|GRIK1_ENST00000327783.4_Missense_Mutation_p.R862W|GRIK1_ENST00000535441.1_Missense_Mutation_p.R864W P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 862 central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity p.R847W(1) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 45 L-Glutamic Acid(DB00142)|Topiramate(DB00273) TTATTCTTCCGTGATTTGTAT 0.393000 5 30 0 0 1 0 0 NOTCH4 4855 broad.mit.edu 37 6 32163789 32163789 + Missense_Mutation SNP A A G TCGA-SR-A6MU-01A-11D-A35I-08 TCGA-SR-A6MU-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3a73077-d1b2-4000-9184-0b300022c629 eca93414-506d-4dcc-948b-670ab178a569 g.chr6:32163789A>G ENST00000375023.3 - 30 5575 c.5437T>C c.(5437-5439)Tgg>Cgg p.W1813R NOTCH4_ENST00000443903.2_3'UTR NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 1813 cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 AGCAGATCCCAGTGGTTACGT 0.716000 7 9 0 0 1 0 0 AHCTF1 25909 broad.mit.edu 37 1 247067288 247067288 + Missense_Mutation SNP T T A TCGA-SR-A6MU-01A-11D-A35I-08 TCGA-SR-A6MU-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3a73077-d1b2-4000-9184-0b300022c629 eca93414-506d-4dcc-948b-670ab178a569 g.chr1:247067288T>A ENST00000366508.1 - 7 1170 c.1034A>T c.(1033-1035)aAt>aTt p.N345I AHCTF1_ENST00000391829.2_Missense_Mutation_p.N310I|AHCTF1_ENST00000326225.3_Missense_Mutation_p.N319I Q8WYP5 ELYS_HUMAN AT hook containing transcription factor 1 310 Necessary for cytoplasmic localization (By similarity). cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 74 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) ACACTTTCTATTACCAAAGGC 0.328000 8 27 0 0 1 0 0 HECW2 57520 broad.mit.edu 37 2 197184340 197184340 + Missense_Mutation SNP T T C TCGA-SR-A6MU-01A-11D-A35I-08 TCGA-SR-A6MU-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3a73077-d1b2-4000-9184-0b300022c629 eca93414-506d-4dcc-948b-670ab178a569 g.chr2:197184340T>C ENST00000260983.2 - 9 1456 c.1274A>G c.(1273-1275)cAc>cGc p.H425R HECW2_ENST00000409111.1_Missense_Mutation_p.H69R NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 425 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity p.H425P(1) biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 GTGGCCATTGTGTTCGATAGC 0.507000 9 59 0 0 1 0 0 CPXM1 56265 broad.mit.edu 37 20 2775281 2775281 + Missense_Mutation SNP C C T TCGA-SR-A6MU-01A-11D-A35I-08 TCGA-SR-A6MU-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3a73077-d1b2-4000-9184-0b300022c629 eca93414-506d-4dcc-948b-670ab178a569 g.chr20:2775281C>T ENST00000380605.2 - 13 1929 c.1865G>A c.(1864-1866)cGc>cAc p.R622H NM_001184699.1|NM_019609.4 NP_001171628.1|NP_062555.1 Q96SM3 CPXM1_HUMAN carboxypeptidase X (M14 family), member 1 622 cell adhesion|proteolysis metallocarboxypeptidase activity|zinc ion binding endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 AATGCCCATGCGCACCTGtgt 0.552000 3 30 0 0 1 0 0 ZEB1 6935 broad.mit.edu 37 10 31791358 31791358 + Silent SNP C C T TCGA-SR-A6MU-01A-11D-A35I-08 TCGA-SR-A6MU-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3a73077-d1b2-4000-9184-0b300022c629 eca93414-506d-4dcc-948b-670ab178a569 g.chr10:31791358C>T ENST00000446923.2 + 4 745 c.354C>T c.(352-354)gaC>gaT p.D118D ZEB1_ENST00000320985.10_Silent_p.D134D|ZEB1_ENST00000542815.3_Silent_p.D67D|ZEB1_ENST00000361642.5_Silent_p.D135D|ZEB1_ENST00000560721.2_Silent_p.D114D|ZEB1_ENST00000559858.1_3'UTR NM_001128128.2|NM_001174094.1 NP_001121600.1|NP_001167565.1 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 134 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4) 77 Prostate(175;0.0156) AACAACAAGACACTGCTGTCA 0.408000 6 40 0 0 1 0 0 NSUN7 79730 broad.mit.edu 37 4 40792724 40792724 + Missense_Mutation SNP T T C TCGA-SR-A6MU-01A-11D-A35I-08 TCGA-SR-A6MU-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3a73077-d1b2-4000-9184-0b300022c629 eca93414-506d-4dcc-948b-670ab178a569 g.chr4:40792724T>C ENST00000381782.2 + 8 1637 c.1142T>C c.(1141-1143)gTt>gCt p.V381A NSUN7_ENST00000316607.5_Missense_Mutation_p.V381A NM_024677.4 NP_078953.3 NOP2/Sun domain family, member 7 NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 12 GGACTGGGTGTTAGTAATCCA 0.269000 3 70 0 0 1 0 0 KRTAP4-8 728224 broad.mit.edu 37 17 39254054 39254054 + Missense_Mutation SNP A A T rs76270529 by1000genomes TCGA-SR-A6MU-01A-11D-A35I-08 TCGA-SR-A6MU-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3a73077-d1b2-4000-9184-0b300022c629 eca93414-506d-4dcc-948b-670ab178a569 g.chr17:39254054A>T ENST00000333822.4 - 1 339 c.283T>A c.(283-285)Tgc>Agc p.C95S NM_031960.2 NP_114166.1 Q9BYQ9 KRA48_HUMAN keratin associated protein 4-8 95 25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR]. keratin filament p.C95S(4) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1) 11 ctggagatgcagcagcTAGGG 0.677000 3 23 0 0 1 0 0 FLRT2 23768 broad.mit.edu 37 14 86089608 86089608 + Missense_Mutation SNP C C T TCGA-SR-A6MU-01A-11D-A35I-08 TCGA-SR-A6MU-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3a73077-d1b2-4000-9184-0b300022c629 eca93414-506d-4dcc-948b-670ab178a569 g.chr14:86089608C>T ENST00000330753.4 + 2 2517 c.1750C>T c.(1750-1752)Cgg>Tgg p.R584W FLRT2_ENST00000554746.1_Missense_Mutation_p.R584W NM_013231.4 NP_037363.1 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 584 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) CCGGGGCCGGCGGAAAGATGA 0.493000 9 74 0 0 1 0 0 RP11-473J6.1 0 broad.mit.edu 37 8 35764050 35764050 + RNA DEL T T - TCGA-SR-A6MU-01A-11D-A35I-08 TCGA-SR-A6MU-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3a73077-d1b2-4000-9184-0b300022c629 eca93414-506d-4dcc-948b-670ab178a569 g.chr8:35764050delT ENST00000523748.1 + 0 366 actgctcgcctttatctttgt 0.532 2 4 --- --- --- --- MAP3K9 4293 broad.mit.edu 37 14 71275774 71275776 + In_Frame_Del DEL CCT CCT - rs3832971 TCGA-SR-A6MU-01A-11D-A35I-08 TCGA-SR-A6MU-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3a73077-d1b2-4000-9184-0b300022c629 eca93414-506d-4dcc-948b-670ab178a569 g.chr14:71275774_71275776delCCT ENST00000554752.2 - 1 112_114 c.113_115delAGG c.(112-117)gcg>g p.EA38del MAP3K9_ENST00000555993.2_In_Frame_Del_p.EA38del|MAP3K9_ENST00000381250.4_In_Frame_Del_p.EA38del P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 38 Ala-rich.|Poly-Glu. activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity p.E38delE(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) GCCGCCGCCGcctcctcctcctc 0.773 3 4 --- --- --- --- MARK4 57787 broad.mit.edu 37 19 45790742 45790742 + Frame_Shift_Del DEL C C - TCGA-SR-A6MU-01A-11D-A35I-08 TCGA-SR-A6MU-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3a73077-d1b2-4000-9184-0b300022c629 eca93414-506d-4dcc-948b-670ab178a569 g.chr19:45790742delC ENST00000300843.4 + 13 1611 c.1314delC c.(1312-1314)agfs p.S438fs MARK4_ENST00000262891.4_Frame_Shift_Del_p.S438fs NM_031417.3 NP_113605.2 Q96L34 MARK4_HUMAN MAP/microtubule affinity-regulating kinase 4 438 microtubule bundle formation|nervous system development|positive regulation of programmed cell death centrosome|neuron projection ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 31 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0102) CCAAACGCAGCCCGACGAGCA 0.701 2 4 --- --- --- --- HELZ2 85441 broad.mit.edu 37 20 62193251 62193251 + Frame_Shift_Del DEL G G - TCGA-SR-A6MU-01A-11D-A35I-08 TCGA-SR-A6MU-10B-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3a73077-d1b2-4000-9184-0b300022c629 eca93414-506d-4dcc-948b-670ab178a569 g.chr20:62193251delG ENST00000467148.1 - 11 6685 c.6616delC c.(6616-6618)gtfs p.R2206fs HELZ2_ENST00000427522.2_Frame_Shift_Del_p.R1637fs NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator TTCTCCCCACGGGGGGGGCCT 0.647 3 6 --- --- --- ---