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 GPR124 25960 broad.mit.edu 37 8 37697651 37697651 + Missense_Mutation SNP C C G TCGA-QR-A70H-01A-12D-A35D-08 TCGA-QR-A70H-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbafc85e-deff-46cd-a40f-479b9dc92a60 31c6fa50-200a-46c1-a546-61b52592fd8f g.chr8:37697651C>G ENST00000315215.7 + 14 2236 c.1873C>G c.(1873-1875)Ctg>Gtg p.L625V GPR124_ENST00000412232.2_Missense_Mutation_p.L842V Q96PE1 GP124_HUMAN G protein-coupled receptor 124 842 central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) GGGCATCACCCTGCACTACTC 0.652000 6 44 0 0 1 0 0 GLG1 2734 broad.mit.edu 37 16 74502950 74502950 + Missense_Mutation SNP A A C TCGA-QR-A70H-01A-12D-A35D-08 TCGA-QR-A70H-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbafc85e-deff-46cd-a40f-479b9dc92a60 31c6fa50-200a-46c1-a546-61b52592fd8f g.chr16:74502950A>C ENST00000422840.2 - 17 2329 c.2330T>G c.(2329-2331)gTg>gGg p.V777G GLG1_ENST00000205061.5_Missense_Mutation_p.V777G|GLG1_ENST00000447066.2_Missense_Mutation_p.V766G NM_001145667.1 NP_001139139.1 Q92896 GSLG1_HUMAN golgi glycoprotein 1 777 Golgi membrane|integral to membrane receptor binding breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1) 57 CAGGCAGATCACCACGTCCAC 0.622000 15 27 0 0 1 0 0 PCDHB7 56129 broad.mit.edu 37 5 140553994 140553994 + Silent SNP G G T TCGA-QR-A70H-01A-12D-A35D-08 TCGA-QR-A70H-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbafc85e-deff-46cd-a40f-479b9dc92a60 31c6fa50-200a-46c1-a546-61b52592fd8f g.chr5:140553994G>T ENST00000231137.3 + 1 1752 c.1578G>T c.(1576-1578)gcG>gcT p.A526A NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 526 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.A526A(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCTGCAGGCGTTCGAGTTCC 0.706000 5 102 3.59834e-05 3.7619e-05 1 1 0 BMP2K 55589 broad.mit.edu 37 4 79792085 79792085 + Missense_Mutation SNP G G C rs71828885 TCGA-QR-A70H-01A-12D-A35D-08 TCGA-QR-A70H-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbafc85e-deff-46cd-a40f-479b9dc92a60 31c6fa50-200a-46c1-a546-61b52592fd8f g.chr4:79792085G>C ENST00000335016.5 + 11 1546 c.1380G>C c.(1378-1380)caG>caC p.Q460H BMP2K_ENST00000502871.1_Missense_Mutation_p.Q460H NM_198892.1 NP_942595.1 Q9NSY1 BMP2K_HUMAN BMP2 inducible kinase 460 Gln/His-rich. nucleus ATP binding|protein serine/threonine kinase activity p.Q460H(3) NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 13 ATCCTCACcagcagcagcagc 0.577000 3 40 0 0 1 0 0 BRCA2 675 broad.mit.edu 37 13 32968858 32968858 + Missense_Mutation SNP T T C TCGA-QR-A70H-01A-12D-A35D-08 TCGA-QR-A70H-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbafc85e-deff-46cd-a40f-479b9dc92a60 31c6fa50-200a-46c1-a546-61b52592fd8f g.chr13:32968858T>C ENST00000544455.1 + 25 9516 c.9289T>C c.(9289-9291)Tgt>Cgt p.C3097R BRCA2_ENST00000380152.3_Missense_Mutation_p.C3097R NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 3097 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) GTCAGACGAATGTTACAATTT 0.353000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 39 76 0 0 1 0 0 RAPH1 65059 broad.mit.edu 37 2 204354775 204354775 + Silent SNP G G A TCGA-QR-A70H-01A-12D-A35D-08 TCGA-QR-A70H-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbafc85e-deff-46cd-a40f-479b9dc92a60 31c6fa50-200a-46c1-a546-61b52592fd8f g.chr2:204354775G>A ENST00000319170.5 - 4 563 c.264C>T c.(262-264)gcC>gcT p.A88A RAPH1_ENST00000374488.2_Silent_p.A88A|RAPH1_ENST00000374493.3_Silent_p.A88A|RAPH1_ENST00000308091.4_Silent_p.A88A|RAPH1_ENST00000439222.1_Silent_p.A88A|RAPH1_ENST00000457812.1_Silent_p.A88A|RAPH1_ENST00000453034.1_Silent_p.A88A|RAPH1_ENST00000419464.1_Silent_p.A88A|RAPH1_ENST00000418114.1_Silent_p.A88A|RAPH1_ENST00000374489.2_Silent_p.A88A|RAPH1_ENST00000423104.1_Silent_p.A88A NM_213589.1 NP_998754.1 Q70E73 RAPH1_HUMAN Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 88 cell-matrix adhesion|signal transduction cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 CAGCCATCAAGGCATCCAGAT 0.393000 4 111 0 0 1 0 0 ZNF77 58492 broad.mit.edu 37 19 2936578 2936578 + Missense_Mutation SNP T T G TCGA-QR-A70H-01A-12D-A35D-08 TCGA-QR-A70H-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbafc85e-deff-46cd-a40f-479b9dc92a60 31c6fa50-200a-46c1-a546-61b52592fd8f g.chr19:2936578T>G ENST00000314531.4 - 3 347 c.255A>C c.(253-255)gaA>gaC p.E85D NM_021217.2 NP_067040.1 Q15935 ZNF77_HUMAN zinc finger protein 77 85 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1) 17 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18) ATCTCCAATTTTCTCCAAAAA 0.468000 25 46 0 0 1 0 0 IHH 3549 broad.mit.edu 37 2 219924911 219924911 + Missense_Mutation SNP G G C TCGA-QR-A70H-01A-12D-A35D-08 TCGA-QR-A70H-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbafc85e-deff-46cd-a40f-479b9dc92a60 31c6fa50-200a-46c1-a546-61b52592fd8f g.chr2:219924911G>C ENST00000295731.5 - 1 278 c.279C>G c.(277-279)gaC>gaG p.D93E NM_002181.3 NP_002172.2 Q14623 IHH_HUMAN indian hedgehog 93 cell-cell signaling|intein-mediated protein splicing|proteolysis extracellular space|plasma membrane cholesterol binding|patched binding|peptidase activity breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 14 Renal(207;0.0915) Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGTTCTCCTCGTCCTTGAAGA 0.657000 22 72 0 0 1 0 0 NUDCD2 134492 broad.mit.edu 37 5 162886940 162886940 + Silent SNP G G T rs141206788 TCGA-QR-A70H-01A-12D-A35D-08 TCGA-QR-A70H-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbafc85e-deff-46cd-a40f-479b9dc92a60 31c6fa50-200a-46c1-a546-61b52592fd8f g.chr5:162886940G>T ENST00000302764.4 - 1 206 c.117C>A c.(115-117)cgC>cgA p.R39R NUDCD2_ENST00000517501.1_Silent_p.R39R NM_145266.4 NP_660309.1 Q8WVJ2 NUDC2_HUMAN NudC domain containing 2 39 CS. intracellular large_intestine(1)|prostate(1) 2 Renal(175;0.000281) Medulloblastoma(196;0.0207)|all_neural(177;0.0966) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0981)|OV - Ovarian serous cystadenocarcinoma(192;0.183)|Epithelial(171;0.247) TATCCTGGGCGCGCGTGCCTG 0.672000 57 82 1.74971e-23 1.91635e-23 1 1 0 IFITM3 10410 broad.mit.edu 37 11 320649 320649 + Silent SNP G G A rs11553885 by1000genomes TCGA-QR-A70H-01A-12D-A35D-08 TCGA-QR-A70H-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbafc85e-deff-46cd-a40f-479b9dc92a60 31c6fa50-200a-46c1-a546-61b52592fd8f g.chr11:320649G>A ENST00000399808.4 - 1 401 c.165C>T c.(163-165)ccC>ccT p.P55P RP11-326C3.11_ENST00000602429.1_RNA|IFITM3_ENST00000602735.1_Silent_p.P34P|RP11-326C3.11_ENST00000602756.1_RNA|IFITM3_ENST00000526811.1_Silent_p.P34P NM_021034.2 NP_066362.2 Q01628 IFM3_HUMAN interferon induced transmembrane protein 3 55 response to virus|type I interferon-mediated signaling pathway integral to membrane|plasma membrane p.P55P(5) central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1) 18 all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122) CGACATGGTCGGGCACGGAGG 0.637000 9 108 0 0 1 0 0 SCYL2 55681 broad.mit.edu 37 12 100722992 100722992 + Silent SNP T T C TCGA-QR-A70H-01A-12D-A35D-08 TCGA-QR-A70H-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbafc85e-deff-46cd-a40f-479b9dc92a60 31c6fa50-200a-46c1-a546-61b52592fd8f g.chr12:100722992T>C ENST00000360820.2 + 13 2093 c.1656T>C c.(1654-1656)tgT>tgC p.C552C NM_017988.4 NP_060458.3 Q6P3W7 SCYL2_HUMAN SCY1-like 2 (S. cerevisiae) 552 endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm ATP binding|protein kinase activity|receptor binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1) 41 TTTACAAATGTACTTTTACTC 0.313000 4 58 0 0 1 0 0 NUDCD2 134492 broad.mit.edu 37 5 162886941 162886941 + Missense_Mutation SNP C C T TCGA-QR-A70H-01A-12D-A35D-08 TCGA-QR-A70H-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbafc85e-deff-46cd-a40f-479b9dc92a60 31c6fa50-200a-46c1-a546-61b52592fd8f g.chr5:162886941C>T ENST00000302764.4 - 1 205 c.116G>A c.(115-117)cGc>cAc p.R39H NUDCD2_ENST00000517501.1_Missense_Mutation_p.R39H NM_145266.4 NP_660309.1 Q8WVJ2 NUDC2_HUMAN NudC domain containing 2 39 CS. intracellular large_intestine(1)|prostate(1) 2 Renal(175;0.000281) Medulloblastoma(196;0.0207)|all_neural(177;0.0966) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0981)|OV - Ovarian serous cystadenocarcinoma(192;0.183)|Epithelial(171;0.247) ATCCTGGGCGCGCGTGCCTGG 0.672000 56 81 0 0 1 0 0 MLLT6 4302 broad.mit.edu 37 17 36873756 36873756 + Missense_Mutation SNP C C T TCGA-QR-A70H-01A-12D-A35D-08 TCGA-QR-A70H-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbafc85e-deff-46cd-a40f-479b9dc92a60 31c6fa50-200a-46c1-a546-61b52592fd8f g.chr17:36873756C>T ENST00000325718.7 + 11 1814 c.1723C>T c.(1723-1725)Ctc>Ttc p.L575F CTB-58E17.9_ENST00000579499.1_RNA NM_005937.3 NP_005928.2 P55198 AF17_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 575 regulation of transcription, DNA-dependent nucleus protein binding|zinc ion binding breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 Breast(7;4.43e-21) CAGCACCCCTCTCTCCTCCAG 0.657000 T MLL AL 25 61 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37430948 37430948 + Missense_Mutation SNP C C G TCGA-QR-A70H-01A-12D-A35D-08 TCGA-QR-A70H-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbafc85e-deff-46cd-a40f-479b9dc92a60 31c6fa50-200a-46c1-a546-61b52592fd8f g.chr10:37430948C>G ENST00000374660.1 + 7 1054 c.955C>G c.(955-957)Cca>Gca p.P319A ANKRD30A_ENST00000602533.1_Missense_Mutation_p.P319A|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P319A Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 375 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 ATTTACGTGGCCAGCAAAAGG 0.423000 4 124 0 0 1 0 0 ETV7 51513 broad.mit.edu 37 6 36343733 36343733 + Silent SNP G G A TCGA-QR-A70H-01A-12D-A35D-08 TCGA-QR-A70H-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbafc85e-deff-46cd-a40f-479b9dc92a60 31c6fa50-200a-46c1-a546-61b52592fd8f g.chr6:36343733G>A ENST00000339796.5 - 3 1067 c.222C>T c.(220-222)tgC>tgT p.C74C ETV7_ENST00000340181.4_Silent_p.C74C|ETV7_ENST00000373737.4_Silent_p.C74C|ETV7_ENST00000373738.1_Intron|ETV7_ENST00000538992.1_Intron NM_001207035.1 NP_001193964.1 Q9Y603 ETV7_HUMAN ets variant 7 74 PNT. organ morphogenesis|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4) 10 GCTCCGCGGTGCATGGCAGAG 0.652000 22 33 0 0 1 0 0 MTFR1 9650 broad.mit.edu 37 8 66617057 66617057 + Missense_Mutation SNP A A G TCGA-QR-A70H-01A-12D-A35D-08 TCGA-QR-A70H-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbafc85e-deff-46cd-a40f-479b9dc92a60 31c6fa50-200a-46c1-a546-61b52592fd8f g.chr8:66617057A>G ENST00000262146.4 + 5 536 c.410A>G c.(409-411)aAt>aGt p.N137S MTFR1_ENST00000517944.1_3'UTR|MTFR1_ENST00000458689.2_Missense_Mutation_p.N104S NM_014637.3 NP_055452.3 Q15390 MTFR1_HUMAN mitochondrial fission regulator 1 137 mitochondrion|plasma membrane cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1) 11 Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194) GCGCTGGCAAATGAGGAAGCA 0.493000 38 34 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79322065 79322065 + Missense_Mutation SNP C C T TCGA-QR-A70H-01A-12D-A35D-08 TCGA-QR-A70H-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbafc85e-deff-46cd-a40f-479b9dc92a60 31c6fa50-200a-46c1-a546-61b52592fd8f g.chr9:79322065C>T ENST00000428286.1 - 8 5248 c.4048G>A c.(4048-4050)Gtt>Att p.V1350I PRUNE2_ENST00000376718.3_Missense_Mutation_p.V1709I Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 1709 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 TCCTCAGCAACGTGGCAGTTG 0.443000 28 32 0 0 1 0 0 KCNN3 3782 broad.mit.edu 37 1 154842199 154842200 + In_Frame_Ins INS - - GCT rs58327065 TCGA-QR-A70H-01A-12D-A35D-08 TCGA-QR-A70H-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbafc85e-deff-46cd-a40f-479b9dc92a60 31c6fa50-200a-46c1-a546-61b52592fd8f g.chr1:154842199_154842200insGCT ENST00000271915.3 - 1 556_557 c.241_242insAGC c.(241-243)acc>AGCacc p.80_81insS NM_002249.5 NP_002240.3 Q9UGI6 KCNN3_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 80 Poly-Gln. integral to membrane calmodulin binding p.Q80_P81insQQ(2) cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) GGGATGCGGTGgctgctgctgc 0.698 3 4 --- --- --- --- LINC01250 101927554 broad.mit.edu 37 2 2910744 2910744 + RNA DEL C C - TCGA-QR-A70H-01A-12D-A35D-08 TCGA-QR-A70H-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbafc85e-deff-46cd-a40f-479b9dc92a60 31c6fa50-200a-46c1-a546-61b52592fd8f g.chr2:2910744delC ENST00000457478.1 - 0 594 cagccactcacccctacacct 0.692 2 4 --- --- --- --- CAMK2B 816 broad.mit.edu 37 7 44273998 44273998 + Frame_Shift_Del DEL A A - TCGA-QR-A70H-01A-12D-A35D-08 TCGA-QR-A70H-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbafc85e-deff-46cd-a40f-479b9dc92a60 31c6fa50-200a-46c1-a546-61b52592fd8f g.chr7:44273998delA ENST00000395749.2 - 15 1198 c.1122delT c.(1120-1122)ccfs p.P374fs CAMK2B_ENST00000502837.2_Frame_Shift_Del_p.P245fs|CAMK2B_ENST00000457475.1_Frame_Shift_Del_p.P350fs|CAMK2B_ENST00000258682.6_Frame_Shift_Del_p.P349fs|CAMK2B_ENST00000440254.2_Frame_Shift_Del_p.P374fs|CAMK2B_ENST00000346990.4_Intron|CAMK2B_ENST00000395747.2_Frame_Shift_Del_p.P350fs|CAMK2B_ENST00000358707.3_Frame_Shift_Del_p.P350fs|CAMK2B_ENST00000353625.4_Intron|CAMK2B_ENST00000350811.3_Frame_Shift_Del_p.P374fs|CAMK2B_ENST00000347193.4_Intron NM_001220.4 NP_001211.3 Q13554 KCC2B_HUMAN calcium/calmodulin-dependent protein kinase II beta 374 interferon-gamma-mediated signaling pathway|synaptic transmission cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1) 18 CCAGGGCGGCAGGAGGAAGCG 0.617 2 4 --- --- --- --- HNRNPUL2 221092 broad.mit.edu 37 11 62488846 62488846 + Frame_Shift_Del DEL A A - TCGA-QR-A70H-01A-12D-A35D-08 TCGA-QR-A70H-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbafc85e-deff-46cd-a40f-479b9dc92a60 31c6fa50-200a-46c1-a546-61b52592fd8f g.chr11:62488846delA ENST00000301785.5 - 9 1724 c.1532delT c.(1531-1533)tafs p.L511fs RP11-831H9.16_ENST00000403734.2_Frame_Shift_Del_p.L511fs NM_001079559.2 NP_001073027.1 Q1KMD3 HNRL2_HUMAN heterogeneous nuclear ribonucleoprotein U-like 2 511 cell killing nucleus ATP binding|nucleic acid binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 TTGCTGAACTAAAAGGTCTCG 0.413 77 144 --- --- --- --- SRPX 8406 broad.mit.edu 37 X 38079976 38079978 + In_Frame_Del DEL GCA GCA - rs72445954 TCGA-QR-A70H-01A-12D-A35D-08 TCGA-QR-A70H-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbafc85e-deff-46cd-a40f-479b9dc92a60 31c6fa50-200a-46c1-a546-61b52592fd8f g.chrX:38079976_38079978delGCA ENST00000378533.3 - 1 174_176 c.68_70delTGC c.(67-72)cgc>c p.LR23del TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000432886.2_In_Frame_Del_p.LR23del|SRPX_ENST00000544439.1_In_Frame_Del_p.LR23del|SRPX_ENST00000538295.1_In_Frame_Del_p.LR23del|SRPX_ENST00000343800.6_Intron NM_006307.4 NP_006298.1 P78539 SRPX_HUMAN sushi-repeat containing protein, X-linked 23 Missing. cell adhesion cell surface|membrane p.L23delL(2) autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2) 25 GGCGGGACGCgcagcagcagcag 0.729 OREG0019726 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 5 --- --- --- ---