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 STX6 10228 broad.mit.edu 37 1 180974535 180974535 + Missense_Mutation SNP C C A TCGA-FD-A5BS-01A-21D-A26M-08 TCGA-FD-A5BS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7cd95d-937f-458f-9c64-f1649c4c1b15 91e3cd45-c230-41d6-ad89-9832229abd44 g.chr1:180974535C>A ENST00000258301.5 - 2 337 c.100G>T c.(100-102)Gac>Tac p.D34Y STX6_ENST00000542060.1_Intron NM_005819.4 NP_005810.1 O43752 STX6_HUMAN syntaxin 6 34 Golgi vesicle transport|intracellular protein transport|vesicle fusion clathrin-coated vesicle|early endosome|integral to membrane|perinuclear region of cytoplasm|plasma membrane|trans-Golgi network membrane SNAP receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)|prostate(1) 10 GTGGAGGGGTCCTGGAGGAGC 0.498000 7 63 0.000157383 0.000161755 1 1 0 CD2BP2 10421 broad.mit.edu 37 16 30365641 30365641 + Silent SNP C C T TCGA-FD-A5BS-01A-21D-A26M-08 TCGA-FD-A5BS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7cd95d-937f-458f-9c64-f1649c4c1b15 91e3cd45-c230-41d6-ad89-9832229abd44 g.chr16:30365641C>T ENST00000305596.3 - 3 256 c.81G>A c.(79-81)ctG>ctA p.L27L CD2BP2_ENST00000569466.1_Silent_p.L27L NM_006110.2 NP_006101.1 O95400 CD2B2_HUMAN CD2 (cytoplasmic tail) binding protein 2 27 assembly of spliceosomal tri-snRNP cytoplasm|nucleoplasm|U5 snRNP protein binding|ribonucleoprotein binding breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1) 15 CAGGGTCCACCAGCTGTGAGC 0.527000 12 169 0 0 1 0 0 TOX3 27324 broad.mit.edu 37 16 52497974 52497974 + Missense_Mutation SNP G G C TCGA-FD-A5BS-01A-21D-A26M-08 TCGA-FD-A5BS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7cd95d-937f-458f-9c64-f1649c4c1b15 91e3cd45-c230-41d6-ad89-9832229abd44 g.chr16:52497974G>C ENST00000219746.9 - 3 564 c.280C>G c.(280-282)Cca>Gca p.P94A TOX3_ENST00000407228.3_Missense_Mutation_p.P89A NM_001080430.2 NP_001073899.2 O15405 TOX3_HUMAN TOX high mobility group box family member 3 94 apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1) 24 GAAGGCAATGGATCGCTGAGG 0.532000 4 49 0 0 1 0 0 DCAF8 50717 broad.mit.edu 37 1 160209906 160209906 + Missense_Mutation SNP C C T TCGA-FD-A5BS-01A-21D-A26M-08 TCGA-FD-A5BS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7cd95d-937f-458f-9c64-f1649c4c1b15 91e3cd45-c230-41d6-ad89-9832229abd44 g.chr1:160209906C>T ENST00000368073.3 - 4 738 c.304G>A c.(304-306)Gag>Aag p.E102K DCAF8_ENST00000326837.2_Missense_Mutation_p.E102K|DCAF8_ENST00000610139.1_Missense_Mutation_p.E102K|DCAF8_ENST00000556710.1_Missense_Mutation_p.E256K|DCAF8_ENST00000475733.1_Missense_Mutation_p.E102K|DCAF8_ENST00000608310.1_Missense_Mutation_p.E256K|DCAF8_ENST00000368074.1_Missense_Mutation_p.E102K Q5TAQ9 DCAF8_HUMAN DDB1 and CUL4 associated factor 8 102 CUL4 RING ubiquitin ligase complex protein binding cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1) 33 tcctcttcctcttcctctGAG 0.537000 3 22 0 0 1 0 0 CD101 9398 broad.mit.edu 37 1 117552712 117552712 + Missense_Mutation SNP A A G TCGA-FD-A5BS-01A-21D-A26M-08 TCGA-FD-A5BS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7cd95d-937f-458f-9c64-f1649c4c1b15 91e3cd45-c230-41d6-ad89-9832229abd44 g.chr1:117552712A>G ENST00000256652.4 + 2 342 c.284A>G c.(283-285)tAc>tGc p.Y95C CD101_ENST00000369470.1_Missense_Mutation_p.Y95C NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4 NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2 Q93033 IGSF2_HUMAN CD101 molecule 95 Ig-like C2-type 1. cell surface receptor linked signaling pathway integral to membrane|plasma membrane hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 GGAGACGTCTACGTGGAGAGG 0.532000 3 34 0 0 1 0 0 C11orf88 399949 broad.mit.edu 37 11 111386809 111386809 + Missense_Mutation SNP G G C TCGA-FD-A5BS-01A-21D-A26M-08 TCGA-FD-A5BS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7cd95d-937f-458f-9c64-f1649c4c1b15 91e3cd45-c230-41d6-ad89-9832229abd44 g.chr11:111386809G>C ENST00000529167.1 + 3 313 c.313G>C c.(313-315)Gag>Cag p.E105Q C11orf88_ENST00000332814.6_Missense_Mutation_p.E105Q|RP11-794P6.6_ENST00000530283.1_RNA|C11orf88_ENST00000375618.4_Missense_Mutation_p.E105Q Q6PI97 CK088_HUMAN chromosome 11 open reading frame 88 105 endometrium(1)|large_intestine(3)|lung(2) 6 ACAGGAATCTGAGGAGAAAGT 0.294000 4 32 0 0 1 0 0 MAP7D2 256714 broad.mit.edu 37 X 20043941 20043941 + Silent SNP C C T TCGA-FD-A5BS-01A-21D-A26M-08 TCGA-FD-A5BS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7cd95d-937f-458f-9c64-f1649c4c1b15 91e3cd45-c230-41d6-ad89-9832229abd44 g.chrX:20043941C>T ENST00000379651.3 - 8 1032 c.1014G>A c.(1012-1014)aaG>aaA p.K338K MAP7D2_ENST00000543767.1_Silent_p.K223K|MAP7D2_ENST00000443379.3_Silent_p.K293K|MAP7D2_ENST00000452324.3_Silent_p.K286K|MAP7D2_ENST00000466145.1_5'UTR|MAP7D2_ENST00000379643.5_Silent_p.K379K NM_152780.3 NP_689993.2 Q96T17 MA7D2_HUMAN MAP7 domain containing 2 338 NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 37 CCTTGTTGCTCTTCTCTTTCT 0.552000 6 74 0 0 1 0 0 ATP6V0B 533 broad.mit.edu 37 1 44442930 44442930 + Silent SNP A A G rs2428954 by1000genomes TCGA-FD-A5BS-01A-21D-A26M-08 TCGA-FD-A5BS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7cd95d-937f-458f-9c64-f1649c4c1b15 91e3cd45-c230-41d6-ad89-9832229abd44 g.chr1:44442930A>G ENST00000532642.1 + 7 730 c.633A>G c.(631-633)caA>caG p.Q211Q ATP6V0B_ENST00000471859.2_Intron|ATP6V0B_ENST00000236067.4_Intron|ATP6V0B_ENST00000472174.2_Intron|ATP6V0B_ENST00000498664.1_Intron Q99437 VATO_HUMAN ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b 110 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuolar membrane hydrogen ion transmembrane transporter activity breast(2)|kidney(1)|large_intestine(3)|lung(3) 9 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) CTTGTCCCCAACCTAGCCTTA 0.512000 3 28 0 0 1 0 0 ZNF511 118472 broad.mit.edu 37 10 135125450 135125450 + Missense_Mutation SNP G G C TCGA-FD-A5BS-01A-21D-A26M-08 TCGA-FD-A5BS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7cd95d-937f-458f-9c64-f1649c4c1b15 91e3cd45-c230-41d6-ad89-9832229abd44 g.chr10:135125450G>C ENST00000359035.3 + 5 788 c.785G>C c.(784-786)aGg>aCg p.R262T ZNF511_ENST00000361518.5_Intron|ZNF511_ENST00000368554.4_Intron|ZNF511_ENST00000463816.2_Intron Q8NB15 ZN511_HUMAN zinc finger protein 511 262 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1) 8 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06) AATTCAGAAAGGTAACGCTGG 0.478000 3 27 0 0 1 0 0 POLR1A 25885 broad.mit.edu 37 2 86254638 86254638 + Missense_Mutation SNP C C T rs74900877 TCGA-FD-A5BS-01A-21D-A26M-08 TCGA-FD-A5BS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7cd95d-937f-458f-9c64-f1649c4c1b15 91e3cd45-c230-41d6-ad89-9832229abd44 g.chr2:86254638C>T ENST00000263857.6 - 34 5449 c.5071G>A c.(5071-5073)Gat>Aat p.D1691N POLR1A_ENST00000409681.1_Missense_Mutation_p.D1630N O95602 RPA1_HUMAN polymerase (RNA) I polypeptide A, 194kDa 1691 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 63 CTCAGCTCATCGTGGGATCCT 0.552000 7 71 0 0 1 0 0 BMP7 655 broad.mit.edu 37 20 55803330 55803330 + Missense_Mutation SNP G G A TCGA-FD-A5BS-01A-21D-A26M-08 TCGA-FD-A5BS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7cd95d-937f-458f-9c64-f1649c4c1b15 91e3cd45-c230-41d6-ad89-9832229abd44 g.chr20:55803330G>A ENST00000395863.3 - 2 1071 c.566C>T c.(565-567)aCg>aTg p.T189M BMP7_ENST00000450594.2_Missense_Mutation_p.T189M|BMP7_ENST00000395864.3_Missense_Mutation_p.T189M NM_001719.2 NP_001710.1 P18075 BMP7_HUMAN bone morphogenetic protein 7 189 BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development extracellular space cytokine activity|growth factor activity endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1) 20 all_lung(29;0.0133)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07) GATCCGGAACGTCTCATTGTC 0.557000 13 134 0 0 1 0 0 DDB2 1643 broad.mit.edu 37 11 47256319 47256319 + Silent SNP C C T TCGA-FD-A5BS-01A-21D-A26M-08 TCGA-FD-A5BS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7cd95d-937f-458f-9c64-f1649c4c1b15 91e3cd45-c230-41d6-ad89-9832229abd44 g.chr11:47256319C>T ENST00000256996.4 + 6 909 c.714C>T c.(712-714)ctC>ctT p.L238L DDB2_ENST00000378601.3_Intron|DDB2_ENST00000378600.3_Intron|DDB2_ENST00000378603.3_Silent_p.L174L NM_000107.2 NP_000098.1 Q92466 DDB2_HUMAN damage-specific DNA binding protein 2, 48kDa 238 nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV nucleoplasm|protein complex damaged DNA binding|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1) 17 TTTGGAATCTCAGAATGCACA 0.542000 """Mis, N""" """skin basal cell, skin squamous cell, melanoma""" Direct reversal of damage;Nucleotide excision repair (NER) Xeroderma Pigmentosum 3 28 0 0 1 0 0 POSTN 10631 broad.mit.edu 37 13 38143931 38143931 + Missense_Mutation SNP G G C TCGA-FD-A5BS-01A-21D-A26M-08 TCGA-FD-A5BS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7cd95d-937f-458f-9c64-f1649c4c1b15 91e3cd45-c230-41d6-ad89-9832229abd44 g.chr13:38143931G>C ENST00000379747.4 - 20 2414 c.2297C>G c.(2296-2298)tCt>tGt p.S766C POSTN_ENST00000541179.1_Missense_Mutation_p.S739C|POSTN_ENST00000379749.4_Missense_Mutation_p.S766C|POSTN_ENST00000379743.4_Missense_Mutation_p.S739C|POSTN_ENST00000541481.1_Missense_Mutation_p.S679C|POSTN_ENST00000497145.1_5'UTR|POSTN_ENST00000379742.4_Missense_Mutation_p.S709C NM_006475.2 NP_006466.2 Q15063 POSTN_HUMAN periostin, osteoblast specific factor 766 cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 59 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) ACCTCCAGTAGAAATCCTAGT 0.368000 4 27 0 0 1 0 0 FASTKD5 60493 broad.mit.edu 37 20 3127437 3127437 + Silent SNP G G A TCGA-FD-A5BS-01A-21D-A26M-08 TCGA-FD-A5BS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7cd95d-937f-458f-9c64-f1649c4c1b15 91e3cd45-c230-41d6-ad89-9832229abd44 g.chr20:3127437G>A ENST00000380266.3 - 2 2601 c.2280C>T c.(2278-2280)ttC>ttT p.F760F UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Intron|UBOX5_ENST00000217173.2_Intron NM_021826.4 NP_068598.1 Q7L8L6 FAKD5_HUMAN FAST kinase domains 5 760 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2) 19 GAGCAGAGGTGAATACTTTCT 0.438000 8 101 0 0 1 0 0 RHOD 29984 broad.mit.edu 37 11 66837937 66837937 + Silent SNP C C T TCGA-FD-A5BS-01A-21D-A26M-08 TCGA-FD-A5BS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7cd95d-937f-458f-9c64-f1649c4c1b15 91e3cd45-c230-41d6-ad89-9832229abd44 g.chr11:66837937C>T ENST00000308831.2 + 4 457 c.372C>T c.(370-372)atC>atT p.I124I RHOD_ENST00000533360.1_3'UTR|RHOD_ENST00000532559.1_Silent_p.I58I NM_014578.3 NP_055393 O00212 RHOD_HUMAN ras homolog family member D 124 regulation of small GTPase mediated signal transduction|Rho protein signal transduction cytosol|plasma membrane GTP binding|GTPase activity lung(3) 3 AGGTACCCATCATCGTCGTGG 0.567000 4 61 0 0 1 0 0 ZFP41 286128 broad.mit.edu 37 8 144332417 144332417 + Missense_Mutation SNP G G C TCGA-FD-A5BS-01A-21D-A26M-08 TCGA-FD-A5BS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7cd95d-937f-458f-9c64-f1649c4c1b15 91e3cd45-c230-41d6-ad89-9832229abd44 g.chr8:144332417G>C ENST00000330701.4 + 2 773 c.404G>C c.(403-405)aGg>aCg p.R135T ZFP41_ENST00000520584.1_Missense_Mutation_p.R135T|ZFP41_ENST00000522452.1_Missense_Mutation_p.R135T NM_173832.4 NP_776193.1 Q8N8Y5 ZFP41_HUMAN ZFP41 zinc finger protein 135 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|lung(4)|ovary(1) 8 all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) AAACACCAGAGGACTCACACG 0.582000 8 120 0 0 1 0 0 SLC22A1 6580 broad.mit.edu 37 6 160564643 160564643 + Silent SNP C C T TCGA-FD-A5BS-01A-21D-A26M-08 TCGA-FD-A5BS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7cd95d-937f-458f-9c64-f1649c4c1b15 91e3cd45-c230-41d6-ad89-9832229abd44 g.chr6:160564643C>T ENST00000366963.4 + 8 1494 c.1347C>T c.(1345-1347)atC>atT p.I449I SLC22A1_ENST00000324965.4_Silent_p.I449I|SLC22A1_ENST00000457470.2_Silent_p.I449I NM_003057.2|NM_153187.1 NP_003048.1|NP_694857.1 O15245 S22A1_HUMAN solute carrier family 22 (organic cation transporter), member 1 449 basolateral plasma membrane|integral to plasma membrane|membrane fraction organic cation transmembrane transporter activity|protein binding SLC22A1/CUTA(2) breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1) 21 Breast(66;0.000776)|Ovarian(120;0.00556) OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06) TACAAATGATCTGCCTGGTGA 0.498000 4 50 0 0 1 0 0 PLEKHG6 55200 broad.mit.edu 37 12 6436877 6436877 + Missense_Mutation SNP G G A TCGA-FD-A5BS-01A-21D-A26M-08 TCGA-FD-A5BS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7cd95d-937f-458f-9c64-f1649c4c1b15 91e3cd45-c230-41d6-ad89-9832229abd44 g.chr12:6436877G>A ENST00000449001.2 + 14 2526 c.2032G>A c.(2032-2034)Gag>Aag p.E678K PLEKHG6_ENST00000396988.3_Missense_Mutation_p.E710K|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.E710K|PLEKHG6_ENST00000304581.8_Missense_Mutation_p.E240K NM_001144857.1 NP_001138329.1 Q3KR16 PKHG6_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 6 710 regulation of Rho protein signal transduction cleavage furrow|cytoplasm|spindle pole GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4) 23 AAGCCCCTGGGAGTCCTCAGG 0.642000 3 24 0 0 1 0 0 ASAH1 427 broad.mit.edu 37 8 17920698 17920698 + Missense_Mutation SNP G G A TCGA-FD-A5BS-01A-21D-A26M-08 TCGA-FD-A5BS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7cd95d-937f-458f-9c64-f1649c4c1b15 91e3cd45-c230-41d6-ad89-9832229abd44 g.chr8:17920698G>A ENST00000262097.6 - 7 810 c.499C>T c.(499-501)Ctt>Ttt p.L167F ASAH1_ENST00000417108.2_Missense_Mutation_p.L77F|ASAH1_ENST00000381733.4_Missense_Mutation_p.L183F|ASAH1_ENST00000520781.1_Missense_Mutation_p.L142F|ASAH1_ENST00000314146.10_Missense_Mutation_p.L161F NM_177924.3 NP_808592.2 Q13510 ASAH1_HUMAN N-acylsphingosine amidohydrolase (acid ceramidase) 1 167 ceramide metabolic process lysosome ceramidase activity breast(1)|endometrium(2)|large_intestine(4)|lung(2) 9 Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228) ACTTACCCAAGAAATACTCCA 0.438000 16 198 0 0 1 0 0 KLRB1 3820 broad.mit.edu 37 12 9760381 9760381 + Missense_Mutation SNP C C T rs144231382 byFrequency TCGA-FD-A5BS-01A-21D-A26M-08 TCGA-FD-A5BS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7cd95d-937f-458f-9c64-f1649c4c1b15 91e3cd45-c230-41d6-ad89-9832229abd44 g.chr12:9760381C>T ENST00000229402.3 - 1 101 c.55G>A c.(55-57)Gaa>Aaa p.E19K NM_002258.2 NP_002249.1 Q12918 KLRB1_HUMAN killer cell lectin-like receptor subfamily B, member 1 19 cell surface receptor linked signaling pathway integral to membrane|plasma membrane sugar binding|transmembrane receptor activity endometrium(2)|large_intestine(6)|lung(4) 12 GAAGAACTTTCTGGGCCTGAG 0.413000 7 47 0 0 1 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102292785 102292785 + RNA SNP C C G rs61084368 TCGA-FD-A5BS-01A-21D-A26M-08 TCGA-FD-A5BS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7cd95d-937f-458f-9c64-f1649c4c1b15 91e3cd45-c230-41d6-ad89-9832229abd44 g.chr15:102292785C>G ENST00000561463.1 + 0 831 p.Q125E(1) TGCTGCTTCTCAGAGCTGCTG 0.602000 3 20 0 0 1 0 0 HIVEP2 3097 broad.mit.edu 37 6 143093208 143093208 + Missense_Mutation SNP C C T TCGA-FD-A5BS-01A-21D-A26M-08 TCGA-FD-A5BS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7cd95d-937f-458f-9c64-f1649c4c1b15 91e3cd45-c230-41d6-ad89-9832229abd44 g.chr6:143093208C>T ENST00000367603.2 - 5 3410 c.2668G>A c.(2668-2670)Gag>Aag p.E890K HIVEP2_ENST00000367604.1_Missense_Mutation_p.E890K|HIVEP2_ENST00000012134.2_Missense_Mutation_p.E890K NM_006734.3 NP_006725.3 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer binding protein 2 890 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) ACTCGAATCTCAGGAACCTGG 0.547000 3 31 0 0 1 0 0 RB1CC1 9821 broad.mit.edu 37 8 53570635 53570635 + Missense_Mutation SNP G G T TCGA-FD-A5BS-01A-21D-A26M-08 TCGA-FD-A5BS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7cd95d-937f-458f-9c64-f1649c4c1b15 91e3cd45-c230-41d6-ad89-9832229abd44 g.chr8:53570635G>T ENST00000025008.5 - 14 2366 c.1843C>A c.(1843-1845)Cta>Ata p.L615I RB1CC1_ENST00000435644.2_Missense_Mutation_p.L615I|RB1CC1_ENST00000539297.1_Missense_Mutation_p.L615I|RB1CC1_ENST00000521611.1_Intron NM_014781.4 NP_055596.3 Q8TDY2 RBCC1_HUMAN RB1-inducible coiled-coil 1 615 autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 60 all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023) AAATTATGTAGAGCAAGTACA 0.358000 4 41 0.00024832 0.00024832 1 1 0 SERPINE1 5054 broad.mit.edu 37 7 100775224 100775224 + Missense_Mutation SNP C C T TCGA-FD-A5BS-01A-21D-A26M-08 TCGA-FD-A5BS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7cd95d-937f-458f-9c64-f1649c4c1b15 91e3cd45-c230-41d6-ad89-9832229abd44 g.chr7:100775224C>T ENST00000223095.4 + 4 731 c.574C>T c.(574-576)Ctc>Ttc p.L192F SERPINE1_ENST00000445463.2_Missense_Mutation_p.L177F NM_000602.4 NP_000593.1 P05121 PAI1_HUMAN serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 192 angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen protease binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3) 20 Lung NSC(181;0.136)|all_lung(186;0.182) Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013) GGTGAATGCCCTCTACTTCAA 0.557000 12 154 0 0 1 0 0 RASA3 22821 broad.mit.edu 37 13 114782770 114782770 + Silent SNP G G A TCGA-FD-A5BS-01A-21D-A26M-08 TCGA-FD-A5BS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7cd95d-937f-458f-9c64-f1649c4c1b15 91e3cd45-c230-41d6-ad89-9832229abd44 g.chr13:114782770G>A ENST00000334062.7 - 12 1270 c.1149C>T c.(1147-1149)acC>acT p.T383T RASA3_ENST00000542651.1_3'UTR|RASA3_ENST00000389544.4_Silent_p.T351T NM_007368.2 NP_031394.2 Q14644 RASA3_HUMAN RAS p21 protein activator 3 383 Ras-GAP. intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane calcium-release channel activity|metal ion binding|Ras GTPase activator activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 47 Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188) BRCA - Breast invasive adenocarcinoma(86;0.128) CCAGCTTCATGGTCTCGTCGA 0.627000 OREG0022538 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 154 0 0 1 0 0 ZNF438 220929 broad.mit.edu 37 10 31134165 31134165 + Missense_Mutation SNP C C T TCGA-FD-A5BS-01A-21D-A26M-08 TCGA-FD-A5BS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7cd95d-937f-458f-9c64-f1649c4c1b15 91e3cd45-c230-41d6-ad89-9832229abd44 g.chr10:31134165C>T ENST00000452305.1 - 9 2745 c.2182G>A c.(2182-2184)Gaa>Aaa p.E728K ZNF438_ENST00000361310.3_Missense_Mutation_p.E738K|ZNF438_ENST00000436087.2_Missense_Mutation_p.E738K|ZNF438_ENST00000413025.1_Missense_Mutation_p.E738K|ZNF438_ENST00000442986.1_Missense_Mutation_p.E738K|ZNF438_ENST00000375311.1_Missense_Mutation_p.E302K|ZNF438_ENST00000444692.2_Missense_Mutation_p.E728K|ZNF438_ENST00000331737.6_Missense_Mutation_p.E728K|ZNF438_ENST00000538351.2_Missense_Mutation_p.E689K NM_001143770.1 NP_001137242.1 Q7Z4V0 ZN438_HUMAN zinc finger protein 438 738 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(175;0.0587) ATGAGCATTTCCACGCCATTC 0.537000 5 72 0 0 1 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64580043 64580043 + Missense_Mutation SNP C C T TCGA-FD-A5BS-01A-21D-A26M-08 TCGA-FD-A5BS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7cd95d-937f-458f-9c64-f1649c4c1b15 91e3cd45-c230-41d6-ad89-9832229abd44 g.chr3:64580043C>T ENST00000498707.1 - 28 4589 c.4247G>A c.(4246-4248)cGg>cAg p.R1416Q ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R1388Q NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 1416 TSP type-1 10. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) ATCTGGAAACCGTTCACCGTT 0.498000 8 144 0 0 1 0 0 ALG5 29880 broad.mit.edu 37 13 37524102 37524102 + Missense_Mutation SNP C C G TCGA-FD-A5BS-01A-21D-A26M-08 TCGA-FD-A5BS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7cd95d-937f-458f-9c64-f1649c4c1b15 91e3cd45-c230-41d6-ad89-9832229abd44 g.chr13:37524102C>G ENST00000239891.3 - 10 1018 c.952G>C c.(952-954)Gag>Cag p.E318Q ALG5_ENST00000443765.1_Missense_Mutation_p.E288Q NM_013338.4 NP_037470.1 Q9Y673 ALG5_HUMAN ALG5, dolichyl-phosphate beta-glucosyltransferase 318 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1) 11 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472) CGAGTTTGCTCAAGCCTCCAG 0.363000 3 27 0 0 1 0 0 ZDHHC7 55625 broad.mit.edu 37 16 85015570 85015570 + Missense_Mutation SNP C C T TCGA-FD-A5BS-01A-21D-A26M-08 TCGA-FD-A5BS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7cd95d-937f-458f-9c64-f1649c4c1b15 91e3cd45-c230-41d6-ad89-9832229abd44 g.chr16:85015570C>T ENST00000313732.4 - 4 698 c.346G>A c.(346-348)Gaa>Aaa p.E116K ZDHHC7_ENST00000564466.1_Missense_Mutation_p.E153K|ZDHHC7_ENST00000569488.1_Intron NM_017740.2 NP_060210.2 Q9NXF8 ZDHC7_HUMAN zinc finger, DHHC-type containing 7 116 integral to membrane acyltransferase activity|protein binding|zinc ion binding large_intestine(6)|lung(4) 10 TCCATGTATTCTTTCGTAGCG 0.512000 6 96 0 0 1 0 0 RTKN2 219790 broad.mit.edu 37 10 63957667 63957667 + Silent SNP C C T TCGA-FD-A5BS-01A-21D-A26M-08 TCGA-FD-A5BS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7cd95d-937f-458f-9c64-f1649c4c1b15 91e3cd45-c230-41d6-ad89-9832229abd44 g.chr10:63957667C>T ENST00000373789.3 - 12 1926 c.1830G>A c.(1828-1830)taG>taA p.*610* RTKN2_ENST00000315289.2_Intron|RTKN2_ENST00000395265.1_Intron NM_145307.2 NP_660350.2 Q8IZC4 RTKN2_HUMAN rhotekin 2 0 signal transduction intracellular endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Prostate(12;0.0297)|all_hematologic(501;0.215) TAAGAGTTTTCTATACTTGTG 0.348000 3 13 0 0 1 0 0 FARP1 10160 broad.mit.edu 37 13 99092981 99092981 + Missense_Mutation SNP C C T TCGA-FD-A5BS-01A-21D-A26M-08 TCGA-FD-A5BS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7cd95d-937f-458f-9c64-f1649c4c1b15 91e3cd45-c230-41d6-ad89-9832229abd44 g.chr13:99092981C>T ENST00000376586.2 + 25 3116 c.2780C>T c.(2779-2781)tCg>tTg p.S927L FARP1_ENST00000319562.6_Missense_Mutation_p.S896L|FARP1_ENST00000595437.1_Missense_Mutation_p.S927L Q9Y4F1 FARP1_HUMAN FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) 896 regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity p.S896L(1)|p.S927L(1) breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1) 49 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) CTGAGCGCCTCGCGCACATCG 0.627000 5 40 0 0 1 0 0 BEST4 266675 broad.mit.edu 37 1 45251285 45251285 + Frame_Shift_Del DEL G G - TCGA-FD-A5BS-01A-21D-A26M-08 TCGA-FD-A5BS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7cd95d-937f-458f-9c64-f1649c4c1b15 91e3cd45-c230-41d6-ad89-9832229abd44 g.chr1:45251285delG ENST00000372207.3 - 5 699 c.700delC c.(700-702)ctcfs p.L234fs NM_153274.2 NP_695006.1 Q8NFU0 BEST4_HUMAN bestrophin 4 234 chloride channel complex|plasma membrane chloride channel activity large_intestine(1)|lung(4)|ovary(1)|skin(1) 7 Acute lymphoblastic leukemia(166;0.155) GTGTAGACGAGGGGGATGCTG 0.537 OREG0013447 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 4 --- --- --- --- RRP36 88745 broad.mit.edu 37 6 42989414 42989419 + In_Frame_Del DEL GCCGGG GCCGGG - rs60664426 TCGA-FD-A5BS-01A-21D-A26M-08 TCGA-FD-A5BS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7cd95d-937f-458f-9c64-f1649c4c1b15 91e3cd45-c230-41d6-ad89-9832229abd44 g.chr6:42989414_42989419delGCCGGG ENST00000244496.5 + 1 32_37 c.22_27delGCCGGG c.(22-27)gccgggdel p.AG14del NM_033112.2 NP_149103.1 Q96EU6 RRP36_HUMAN ribosomal RNA processing 36 homolog (S. cerevisiae) 14 ribosomal small subunit biogenesis|rRNA processing nucleolus p.A8_G9delAG(2) NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1) 11 TAACTAccgcgccggggccggggccg 0.777 3 6 --- --- --- --- SPON1 10418 broad.mit.edu 37 11 14276276 14276277 + RNA DEL GT GT - TCGA-FD-A5BS-01A-21D-A26M-08 TCGA-FD-A5BS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7cd95d-937f-458f-9c64-f1649c4c1b15 91e3cd45-c230-41d6-ad89-9832229abd44 g.chr11:14276276_14276277delGT ENST00000310358.7 + 0 1627 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) GACCTATGAGGTGTGTGTGTGT 0.594 7 42 --- --- --- --- MMP12 4321 broad.mit.edu 37 11 102738793 102738794 + RNA INS - - T rs35342965 by1000genomes TCGA-FD-A5BS-01A-21D-A26M-08 TCGA-FD-A5BS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7cd95d-937f-458f-9c64-f1649c4c1b15 91e3cd45-c230-41d6-ad89-9832229abd44 g.chr11:102738793_102738794insT ENST00000532855.1 - 0 727_728 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) TGAGGAACAAGTGGTGCCTAAG 0.416 3 6 --- --- --- --- C16orf71 146562 broad.mit.edu 37 16 4796953 4796955 + In_Frame_Del DEL GAG GAG - TCGA-FD-A5BS-01A-21D-A26M-08 TCGA-FD-A5BS-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe7cd95d-937f-458f-9c64-f1649c4c1b15 91e3cd45-c230-41d6-ad89-9832229abd44 g.chr16:4796953_4796955delGAG ENST00000299320.5 + 8 1685_1687 c.1207_1209delGAG c.(1207-1209)gagdel p.E409del RP11-127I20.7_ENST00000588099.1_RNA|C16orf71_ENST00000590191.1_In_Frame_Del_p.E426del NM_139170.2 NP_631909.2 Q8IYS4 CP071_HUMAN chromosome 16 open reading frame 71 409 p.E403delE(1) breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1) 11 CTCTGACAGTGAGGAGGAGGAGG 0.611 3 6 --- --- --- ---