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 LINC00264 0 broad.mit.edu 37 10 26880266 26880266 + RNA SNP G G A rs138111133 by1000genomes TCGA-ET-A2N3-01B-21D-A23M-08 TCGA-ET-A2N3-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcfcc7e4-b937-4f55-a703-e73a783d1fc1 27ec3857-71ae-4f7d-944d-112b47b0b97d g.chr10:26880266G>A ENST00000412114.1 + 0 501 NR_026793.1 ACCAAGCCCAGTGGACAGATG 0.443000 5 53 0 0 1 0 0 SLC31A2 1318 broad.mit.edu 37 9 115923922 115923922 + Missense_Mutation SNP G G C TCGA-ET-A2N3-01B-21D-A23M-08 TCGA-ET-A2N3-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcfcc7e4-b937-4f55-a703-e73a783d1fc1 27ec3857-71ae-4f7d-944d-112b47b0b97d g.chr9:115923922G>C ENST00000259392.3 + 3 340 c.207G>C c.(205-207)gaG>gaC p.E69D NM_001860.2 NP_001851.1 O15432 COPT2_HUMAN solute carrier family 31 (copper transporter), member 2 69 integral to plasma membrane copper ion transmembrane transporter activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|stomach(1)|upper_aerodigestive_tract(1) 7 CCATCGCAGAGACAGACGGGG 0.552000 34 64 0 0 1 0 0 TSSC2 0 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-ET-A2N3-01B-21D-A23M-08 TCGA-ET-A2N3-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcfcc7e4-b937-4f55-a703-e73a783d1fc1 27ec3857-71ae-4f7d-944d-112b47b0b97d g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 4 57 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102292953 102292953 + RNA SNP T T C TCGA-ET-A2N3-01B-21D-A23M-08 TCGA-ET-A2N3-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcfcc7e4-b937-4f55-a703-e73a783d1fc1 27ec3857-71ae-4f7d-944d-112b47b0b97d g.chr15:102292953T>C ENST00000561463.1 + 0 999 GGCACAGCGGTGCGACGAGAT 0.587000 3 13 0 0 1 0 0 KLHL8 57563 broad.mit.edu 37 4 88106900 88106900 + Missense_Mutation SNP G G A TCGA-ET-A2N3-01B-21D-A23M-08 TCGA-ET-A2N3-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcfcc7e4-b937-4f55-a703-e73a783d1fc1 27ec3857-71ae-4f7d-944d-112b47b0b97d g.chr4:88106900G>A ENST00000273963.5 - 3 609 c.268C>T c.(268-270)Ccc>Tcc p.P90S KLHL8_ENST00000498875.2_Intron|KLHL8_ENST00000425278.2_Intron|KLHL8_ENST00000545252.1_Intron|KLHL8_ENST00000512111.1_Missense_Mutation_p.P90S NM_020803.3 NP_065854.3 Q9P2G9 KLHL8_HUMAN kelch-like family member 8 90 BTB. breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1) 17 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000603) CTAAAGTAGGGAATAACACAA 0.373000 7 24 0 0 1 0 0 PLEKHA3 65977 broad.mit.edu 37 2 179360222 179360222 + Splice_Site SNP G G C TCGA-ET-A2N3-01B-21D-A23M-08 TCGA-ET-A2N3-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcfcc7e4-b937-4f55-a703-e73a783d1fc1 27ec3857-71ae-4f7d-944d-112b47b0b97d g.chr2:179360222G>C ENST00000234453.4 + 5 852 c.e5-1 NM_019091.3 NP_061964.3 Q9HB20 PKHA3_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3 cytoplasm|membrane endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1) 11 OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865) TAATTTTTCAGAACATGAATG 0.363000 36 38 0 0 1 0 0 ESYT2 57488 broad.mit.edu 37 7 158527136 158527136 + Missense_Mutation SNP T T A TCGA-ET-A2N3-01B-21D-A23M-08 TCGA-ET-A2N3-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcfcc7e4-b937-4f55-a703-e73a783d1fc1 27ec3857-71ae-4f7d-944d-112b47b0b97d g.chr7:158527136T>A ENST00000251527.5 - 21 2678 c.2613A>T c.(2611-2613)gaA>gaT p.E871D ESYT2_ENST00000435514.2_Missense_Mutation_p.E306D NM_020728.2 NP_065779.1 A0FGR8 ESYT2_HUMAN extended synaptotagmin-like protein 2 899 C2 3. integral to membrane|plasma membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2) 32 CTTTGGCAAGTTCTTCAGATG 0.547000 25 52 0 0 1 0 0 KIAA0907 22889 broad.mit.edu 37 1 155887393 155887393 + Missense_Mutation SNP T T G TCGA-ET-A2N3-01B-21D-A23M-08 TCGA-ET-A2N3-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcfcc7e4-b937-4f55-a703-e73a783d1fc1 27ec3857-71ae-4f7d-944d-112b47b0b97d g.chr1:155887393T>G ENST00000368320.3 - 11 1362 c.1337A>C c.(1336-1338)cAg>cCg p.Q446P KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q446P Q7Z7F0 K0907_HUMAN KIAA0907 446 Pro-rich. breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) gggctggggctggggctgggg 0.567000 10 43 0 0 1 0 0 DSCAML1 57453 broad.mit.edu 37 11 117375679 117375679 + Silent SNP G G A rs139385882 TCGA-ET-A2N3-01B-21D-A23M-08 TCGA-ET-A2N3-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcfcc7e4-b937-4f55-a703-e73a783d1fc1 27ec3857-71ae-4f7d-944d-112b47b0b97d g.chr11:117375679G>A ENST00000321322.6 - 10 2323 c.2322C>T c.(2320-2322)gaC>gaT p.D774D DSCAML1_ENST00000527706.1_Silent_p.D504D NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 714 Ig-like C2-type 8. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) GGGGGTAGCCGTCCACCGAGC 0.597000 29 49 0 0 1 0 0 OR14C36 127066 broad.mit.edu 37 1 248512355 248512355 + Silent SNP G G A rs146830794 TCGA-ET-A2N3-01B-21D-A23M-08 TCGA-ET-A2N3-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcfcc7e4-b937-4f55-a703-e73a783d1fc1 27ec3857-71ae-4f7d-944d-112b47b0b97d g.chr1:248512355G>A ENST00000317861.1 + 1 279 c.279G>A c.(277-279)gcG>gcA p.A93A NM_001001918.1 NP_001001918.1 Q8NHC7 O14CZ_HUMAN olfactory receptor, family 14, subfamily C, member 36 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A93A(1) central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2) 43 TTTCTAAGGCGGGATGTGTAG 0.478000 5 71 0 0 1 0 0 WHAMMP3 0 broad.mit.edu 37 15 23191911 23191911 + RNA SNP C C T rs147199465 by1000genomes TCGA-ET-A2N3-01B-21D-A23M-08 TCGA-ET-A2N3-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcfcc7e4-b937-4f55-a703-e73a783d1fc1 27ec3857-71ae-4f7d-944d-112b47b0b97d g.chr15:23191911C>T ENST00000400153.2 - 0 1785 NR_003521.1 TGATTTTCTTCGCACTGATCC 0.408000 5 42 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-ET-A2N3-01B-21D-A23M-08 TCGA-ET-A2N3-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcfcc7e4-b937-4f55-a703-e73a783d1fc1 27ec3857-71ae-4f7d-944d-112b47b0b97d g.chr22:22664606A>G ENST00000426066.1 + 0 787 NR_027293.1 GTCTTCATGCAAACTTGGTAT 0.398000 3 31 0 0 1 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88886182 88886182 + Silent SNP C C T TCGA-ET-A2N3-01B-21D-A23M-08 TCGA-ET-A2N3-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcfcc7e4-b937-4f55-a703-e73a783d1fc1 27ec3857-71ae-4f7d-944d-112b47b0b97d g.chr8:88886182C>T ENST00000319675.3 - 1 114 c.18G>A c.(16-18)ccG>ccA p.P6P NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 6 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 CGAGCAGTCGCGGTCTTTTGC 0.517000 24 25 0 0 1 0 0 CSAG4 0 broad.mit.edu 37 X 151896231 151896231 + RNA SNP A A G TCGA-ET-A2N3-01B-21D-A23M-08 TCGA-ET-A2N3-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcfcc7e4-b937-4f55-a703-e73a783d1fc1 27ec3857-71ae-4f7d-944d-112b47b0b97d g.chrX:151896231A>G ENST00000361201.4 - 0 499 NR_073432.1 endometrium(2)|kidney(2)|lung(1) 5 GAGTGGCTGGATAGTGTTGGC 0.517000 8 27 0 0 1 0 0 OLFM1 10439 broad.mit.edu 37 9 137982159 137982159 + Missense_Mutation SNP G G A TCGA-ET-A2N3-01B-21D-A23M-08 TCGA-ET-A2N3-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcfcc7e4-b937-4f55-a703-e73a783d1fc1 27ec3857-71ae-4f7d-944d-112b47b0b97d g.chr9:137982159G>A ENST00000252854.4 + 2 402 c.215G>A c.(214-216)cGc>cAc p.R72H OLFM1_ENST00000392991.4_Missense_Mutation_p.R90H|OLFM1_ENST00000371793.3_Missense_Mutation_p.R90H|OLFM1_ENST00000371796.3_Missense_Mutation_p.R63H|OLFM1_ENST00000277415.11_Missense_Mutation_p.R72H NM_014279.4 NP_055094.1 Q99784 NOE1_HUMAN olfactomedin 1 90 nervous system development endoplasmic reticulum lumen protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2) 21 Myeloproliferative disorder(178;0.0333) Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07) CGGGATGCCCGCACAAAACAG 0.557000 20 29 0 0 1 0 0 ADPRH 141 broad.mit.edu 37 3 119305355 119305355 + Silent SNP G G A TCGA-ET-A2N3-01B-21D-A23M-08 TCGA-ET-A2N3-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcfcc7e4-b937-4f55-a703-e73a783d1fc1 27ec3857-71ae-4f7d-944d-112b47b0b97d g.chr3:119305355G>A ENST00000478399.1 + 3 1927 c.522G>A c.(520-522)gcG>gcA p.A174A ADPRH_ENST00000478927.1_Silent_p.A174A|ADPRH_ENST00000465513.1_Silent_p.A174A|ADPRH_ENST00000357003.3_Silent_p.A174A|ADPRH_ENST00000471850.1_3'UTR P54922 ADPRH_HUMAN ADP-ribosylarginine hydrolase 174 protein de-ADP-ribosylation ADP-ribosylarginine hydrolase activity|magnesium ion binding breast(1)|kidney(1)|lung(10)|ovary(1) 13 Lung NSC(201;0.0977) GBM - Glioblastoma multiforme(114;0.23) GGGCCCTTGCGTCTGCTCTTT 0.537000 26 218 0 0 1 0 0 RP11-206L10.10 0 broad.mit.edu 37 1 745643 745643 + RNA DEL C C - TCGA-ET-A2N3-01B-21D-A23M-08 TCGA-ET-A2N3-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcfcc7e4-b937-4f55-a703-e73a783d1fc1 27ec3857-71ae-4f7d-944d-112b47b0b97d g.chr1:745643delC ENST00000435300.1 - 0 340 TTCAAAGTGACAGACTGTGGG 0.299 7 7 --- --- --- --- GRM6 2916 broad.mit.edu 37 5 178418554 178418555 + Frame_Shift_Ins INS - - C rs17078894 byFrequency TCGA-ET-A2N3-01B-21D-A23M-08 TCGA-ET-A2N3-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcfcc7e4-b937-4f55-a703-e73a783d1fc1 27ec3857-71ae-4f7d-944d-112b47b0b97d g.chr5:178418554_178418555insC ENST00000231188.5 - 3 905_906 c.727_728insG c.(727-729)ctgfs p.L243fs GRM6_ENST00000517717.1_Frame_Shift_Ins_p.L243fs NM_000843.3 NP_000834.2 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 243 detection of visible light|visual perception integral to plasma membrane NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 55 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) GGCAATACAGACCCCCCCTGGG 0.624 75 156 --- --- --- --- ECM2 1842 broad.mit.edu 37 9 95277146 95277148 + In_Frame_Del DEL TCC TCC - rs137929518 byFrequency TCGA-ET-A2N3-01B-21D-A23M-08 TCGA-ET-A2N3-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcfcc7e4-b937-4f55-a703-e73a783d1fc1 27ec3857-71ae-4f7d-944d-112b47b0b97d g.chr9:95277146_95277148delTCC ENST00000344604.5 - 4 968_970 c.819_821delGGA c.(817-822)gat>ga p.ED273del ECM2_ENST00000444490.2_In_Frame_Del_p.ED251del|CENPP_ENST00000375587.3_Intron NM_001197295.1|NM_001393.3 NP_001184224.1|NP_001384.1 O94769 ECM2_HUMAN extracellular matrix protein 2, female organ and adipocyte specific 273 Poly-Glu. cell-matrix adhesion integrin binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 ctcctcctcatcctcctcctcct 0.606 7 186 --- --- --- --- MICALCL 84953 broad.mit.edu 37 11 12316387 12316389 + In_Frame_Del DEL CTA CTA - rs3812754 byFrequency TCGA-ET-A2N3-01B-21D-A23M-08 TCGA-ET-A2N3-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcfcc7e4-b937-4f55-a703-e73a783d1fc1 27ec3857-71ae-4f7d-944d-112b47b0b97d g.chr11:12316387_12316389delCTA ENST00000256186.2 + 3 1700_1702 c.1409_1411delCTA c.(1408-1413)cca>c p.PT470del NM_032867.2 NP_116256.2 Q6ZW33 MICLK_HUMAN MICAL C-terminal like 470 Poly-Pro. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding p.T471delT(2) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 30 Epithelial(150;0.00177) cctcctcctcctACAGCGGGAGG 0.576 5 5 --- --- --- --- BCL9L 283149 broad.mit.edu 37 11 118774003 118774014 + In_Frame_Del DEL CGCCCCCGCCCC CGCCCCCGCCCC - TCGA-ET-A2N3-01B-21D-A23M-08 TCGA-ET-A2N3-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcfcc7e4-b937-4f55-a703-e73a783d1fc1 27ec3857-71ae-4f7d-944d-112b47b0b97d g.chr11:118774003_118774014delCGCCCCCGCCCC ENST00000334801.3 - 4 1644_1655 c.680_691delGGGGCGGGGGCG c.(679-693)gtc>g p.GGGGV227del BCL9L_ENST00000526143.1_5'UTR NM_182557.2 NP_872363.1 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 227 negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) TTTCCGGGGAcgcccccgcccccgcccccgcc 0.693 4 5 --- --- --- --- CLIP1 6249 broad.mit.edu 37 12 122812690 122812691 + Frame_Shift_Ins INS - - T TCGA-ET-A2N3-01B-21D-A23M-08 TCGA-ET-A2N3-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcfcc7e4-b937-4f55-a703-e73a783d1fc1 27ec3857-71ae-4f7d-944d-112b47b0b97d g.chr12:122812690_122812691insT ENST00000358808.2 - 16 3173_3174 c.3019_3020insA c.(3019-3021)ccafs p.P1007fs CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs|CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs NM_001247997.1|NM_002956.2 NP_001234926.1|NP_002947.1 P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 1018 mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) CTGGTTGTGGCTTGTTTCCATT 0.505 8 199 --- --- --- --- OR4N2 390429 broad.mit.edu 37 14 20296055 20296056 + Frame_Shift_Ins INS - - T rs149523724 by1000genomes TCGA-ET-A2N3-01B-21D-A23M-08 TCGA-ET-A2N3-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcfcc7e4-b937-4f55-a703-e73a783d1fc1 27ec3857-71ae-4f7d-944d-112b47b0b97d g.chr14:20296055_20296056insT ENST00000568211.1 + 1 448_449 c.448_449insT c.(448-450)tggfs p.W150fs OR4N2_ENST00000315947.1_Frame_Shift_Ins_p.W150fs Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, member 2 150 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GGCTCTGTGGCTTGGGGGTTTT 0.530 43 331 --- --- --- --- RP13-395E19.3 0 broad.mit.edu 37 15 32716934 32716934 + RNA DEL C C - TCGA-ET-A2N3-01B-21D-A23M-08 TCGA-ET-A2N3-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcfcc7e4-b937-4f55-a703-e73a783d1fc1 27ec3857-71ae-4f7d-944d-112b47b0b97d g.chr15:32716934delC ENST00000562108.1 - 0 277 ULK4P1_ENST00000565949.1_RNA AAAAAAAAAACTTTTGAGGCA 0.289 8 25 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102293062 102293064 + RNA DEL CTC CTC - rs4965539 TCGA-ET-A2N3-01B-21D-A23M-08 TCGA-ET-A2N3-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcfcc7e4-b937-4f55-a703-e73a783d1fc1 27ec3857-71ae-4f7d-944d-112b47b0b97d g.chr15:102293062_102293064delCTC ENST00000561463.1 + 0 1108_1110 AGTTCATCTTCTCAGAGCTGCTG 0.576 2 4 --- --- --- --- CTC-513N18.6 0 broad.mit.edu 37 19 20634038 20634039 + RNA DEL TG TG - TCGA-ET-A2N3-01B-21D-A23M-08 TCGA-ET-A2N3-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcfcc7e4-b937-4f55-a703-e73a783d1fc1 27ec3857-71ae-4f7d-944d-112b47b0b97d g.chr19:20634038_20634039delTG ENST00000598131.1 + 0 160 TTAGTAAAAATGTGTGTGTGTG 0.401 10 70 --- --- --- --- GCAT 23464 broad.mit.edu 37 22 38211250 38211251 + Frame_Shift_Ins INS - - A TCGA-ET-A2N3-01B-21D-A23M-08 TCGA-ET-A2N3-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcfcc7e4-b937-4f55-a703-e73a783d1fc1 27ec3857-71ae-4f7d-944d-112b47b0b97d g.chr22:38211250_38211251insA ENST00000323205.6 + 5 835_836 c.772_773insA c.(772-774)atgfs p.M258fs GCAT_ENST00000248924.6_Frame_Shift_Ins_p.M232fs NM_001171690.1 NP_001165161.1 O75600 KBL_HUMAN glycine C-acetyltransferase 232 biosynthetic process|cellular amino acid metabolic process glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1) 12 Melanoma(58;0.045) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) CTTCATGGATGAATGCCATGCC 0.629 21 15 --- --- --- --- FTX 0 broad.mit.edu 37 X 73506653 73506654 + RNA INS - - A rs149262205 TCGA-ET-A2N3-01B-21D-A23M-08 TCGA-ET-A2N3-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx bcfcc7e4-b937-4f55-a703-e73a783d1fc1 27ec3857-71ae-4f7d-944d-112b47b0b97d g.chrX:73506653_73506654insA ENST00000429124.1 - 0 174 acctgtcccttaaaaaaaaaaa 0.455 3 4 --- --- --- ---