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 TIGD5 84948 broad.mit.edu 37 8 144681130 144681130 + Missense_Mutation SNP G G T TCGA-EL-A3CX-01A-11D-A19J-08 TCGA-EL-A3CX-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a33fd2-085c-488b-b843-2ca97c85a5cb 180bbc51-bde0-4489-ad9d-ec66b632839b g.chr8:144681130G>T ENST00000321385.3 + 1 1057 c.910G>T c.(910-912)Gcc>Tcc p.A304S TIGD5_ENST00000504548.2_Missense_Mutation_p.A353S E7EWS2 E7EWS2_HUMAN tigger transposable element derived 5 353 regulation of transcription, DNA-dependent chromosome, centromeric region DNA binding NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1) 7 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) GCAGCAGAAGGCCGTGCTGCT 0.701000 3 0 0.115264 0.115264 1 1 0 APC 324 broad.mit.edu 37 5 112116592 112116592 + Nonsense_Mutation SNP C C T TCGA-EL-A3CX-01A-11D-A19J-08 TCGA-EL-A3CX-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a33fd2-085c-488b-b843-2ca97c85a5cb 180bbc51-bde0-4489-ad9d-ec66b632839b g.chr5:112116592C>T ENST00000457016.1 + 6 1017 c.637C>T c.(637-639)Cga>Tga p.R213* APC_ENST00000257430.4_Nonsense_Mutation_p.R213*|APC_ENST00000508376.2_Nonsense_Mutation_p.R213* P25054 APC_HUMAN adenomatous polyposis coli 213 Leu-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.R213*(20) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) TATGGAAAAACGAGCACAGGT 0.348000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 16 1 0 0 1 0 0 ZNF733P 0 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-EL-A3CX-01A-11D-A19J-08 TCGA-EL-A3CX-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a33fd2-085c-488b-b843-2ca97c85a5cb 180bbc51-bde0-4489-ad9d-ec66b632839b g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 3 32 0 0 1 0 0 TMCC1 23023 broad.mit.edu 37 3 129389482 129389482 + Missense_Mutation SNP G G C TCGA-EL-A3CX-01A-11D-A19J-08 TCGA-EL-A3CX-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a33fd2-085c-488b-b843-2ca97c85a5cb 180bbc51-bde0-4489-ad9d-ec66b632839b g.chr3:129389482G>C ENST00000393238.3 - 4 1542 c.1202C>G c.(1201-1203)gCg>gGg p.A401G TMCC1_ENST00000432054.2_Missense_Mutation_p.A77G|TMCC1_ENST00000426664.2_Missense_Mutation_p.A287G|TMCC1_ENST00000329333.5_Missense_Mutation_p.A222G NM_001017395.3 NP_001017395.2 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 401 integral to membrane PLXND1/TMCC1(4) breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1) 25 AGCCTTCCCCGCATCATCCAC 0.483000 35 48 0 0 1 0 0 SDHAP1 0 broad.mit.edu 37 3 195711423 195711423 + RNA SNP A A G TCGA-EL-A3CX-01A-11D-A19J-08 TCGA-EL-A3CX-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a33fd2-085c-488b-b843-2ca97c85a5cb 180bbc51-bde0-4489-ad9d-ec66b632839b g.chr3:195711423A>G ENST00000427841.1 - 0 524 NR_003264.2 CTCTTGTACTAGAAACAGACC 0.552000 4 31 0 0 1 0 0 FHOD3 80206 broad.mit.edu 37 18 34326989 34326989 + Missense_Mutation SNP G G A TCGA-EL-A3CX-01A-11D-A19J-08 TCGA-EL-A3CX-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a33fd2-085c-488b-b843-2ca97c85a5cb 180bbc51-bde0-4489-ad9d-ec66b632839b g.chr18:34326989G>A ENST00000257209.4 + 21 3720 c.3598G>A c.(3598-3600)Gca>Aca p.A1200T FHOD3_ENST00000591635.1_Missense_Mutation_p.A396T|FHOD3_ENST00000590592.1_Missense_Mutation_p.A1375T|FHOD3_ENST00000445677.1_Missense_Mutation_p.A1162T|FHOD3_ENST00000592128.1_Missense_Mutation_p.A179T|FHOD3_ENST00000359247.4_Missense_Mutation_p.A1183T NM_025135.2 NP_079411.2 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 1183 FH2. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 90 all_epithelial(2;0.0181)|Colorectal(2;0.0195) CAAGGCAATTGCAAAACATGA 0.373000 33 28 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137642703 137642703 + Missense_Mutation SNP C C T TCGA-EL-A3CX-01A-11D-A19J-08 TCGA-EL-A3CX-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a33fd2-085c-488b-b843-2ca97c85a5cb 180bbc51-bde0-4489-ad9d-ec66b632839b g.chr9:137642703C>T ENST00000371817.3 + 13 2051 c.1637C>T c.(1636-1638)gCg>gTg p.A546V NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 546 Interrupted collagenous region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GAGTCCCAGGCGCAAGCCATT 0.637000 3 37 0 0 1 0 0 AJ271736.10 0 broad.mit.edu 37 X 155252868 155252868 + RNA SNP T T A TCGA-EL-A3CX-01A-11D-A19J-08 TCGA-EL-A3CX-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a33fd2-085c-488b-b843-2ca97c85a5cb 180bbc51-bde0-4489-ad9d-ec66b632839b g.chrX:155252868T>A ENST00000285718.7 + 0 819 WASH6P_ENST00000461007.1_RNA p.P304P(5) TAGCCGAGCCTCTCAAGGCAG 0.632000 4 15 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664141 22664141 + RNA SNP G G A TCGA-EL-A3CX-01A-11D-A19J-08 TCGA-EL-A3CX-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a33fd2-085c-488b-b843-2ca97c85a5cb 180bbc51-bde0-4489-ad9d-ec66b632839b g.chr22:22664141G>A ENST00000426066.1 + 0 664 NR_027293.1 AAATTTGAAGGTGCTGTGATT 0.448000 4 67 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-EL-A3CX-01A-11D-A19J-08 TCGA-EL-A3CX-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a33fd2-085c-488b-b843-2ca97c85a5cb 180bbc51-bde0-4489-ad9d-ec66b632839b g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 4 35 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128470999 128470999 + Missense_Mutation SNP C C G TCGA-EL-A3CX-01A-11D-A19J-08 TCGA-EL-A3CX-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a33fd2-085c-488b-b843-2ca97c85a5cb 180bbc51-bde0-4489-ad9d-ec66b632839b g.chr7:128470999C>G ENST00000325888.8 + 1 569 c.308C>G c.(307-309)gCc>gGc p.A103G FLNC_ENST00000346177.6_Missense_Mutation_p.A103G NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 103 Actin-binding.|CH 1. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 GTGTCCGTGGCCCTCGAGTTC 0.652000 16 25 0 0 1 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-EL-A3CX-01A-11D-A19J-08 TCGA-EL-A3CX-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a33fd2-085c-488b-b843-2ca97c85a5cb 180bbc51-bde0-4489-ad9d-ec66b632839b g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 5 54 0 0 1 0 0 RP11-478B9.1 0 broad.mit.edu 37 12 45457267 45457267 + RNA SNP T T C TCGA-EL-A3CX-01A-11D-A19J-08 TCGA-EL-A3CX-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a33fd2-085c-488b-b843-2ca97c85a5cb 180bbc51-bde0-4489-ad9d-ec66b632839b g.chr12:45457267T>C ENST00000548424.1 + 0 448 CACTTGAGCATTGAAGAAGCA 0.463000 21 23 0 0 1 0 0 RALGAPA2 57186 broad.mit.edu 37 20 20506939 20506939 + Missense_Mutation SNP T T C TCGA-EL-A3CX-01A-11D-A19J-08 TCGA-EL-A3CX-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a33fd2-085c-488b-b843-2ca97c85a5cb 180bbc51-bde0-4489-ad9d-ec66b632839b g.chr20:20506939T>C ENST00000202677.6 - 28 3792 c.3650A>G c.(3649-3651)aAg>aGg p.K1217R NM_020343.3 NP_065076.2 Q2PPJ7 RGPA2_HUMAN Ral GTPase activating protein, alpha subunit 2 (catalytic) 1217 activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 54 CATCTGAAGCTTCTCCCAGTA 0.408000 3 15 0 0 1 0 0 SBSN 374897 broad.mit.edu 37 19 36018407 36018407 + Silent SNP T T C TCGA-EL-A3CX-01A-11D-A19J-08 TCGA-EL-A3CX-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a33fd2-085c-488b-b843-2ca97c85a5cb 180bbc51-bde0-4489-ad9d-ec66b632839b g.chr19:36018407T>C ENST00000452271.2 - 1 805 c.777A>G c.(775-777)agA>agG p.R259R SBSN_ENST00000518157.1_Intron NM_001166034.1 NP_001159506.1 Q6UWP8 SBSN_HUMAN suprabasin 132 extracellular region large_intestine(5)|lung(6)|ovary(1)|prostate(2) 14 all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CCTGGCCAAATCTCCCTGCCT 0.627000 4 13 0 0 1 0 0 OR5H14 403273 broad.mit.edu 37 3 97868995 97868995 + Missense_Mutation SNP G G A rs148799830 TCGA-EL-A3CX-01A-11D-A19J-08 TCGA-EL-A3CX-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a33fd2-085c-488b-b843-2ca97c85a5cb 180bbc51-bde0-4489-ad9d-ec66b632839b g.chr3:97868995G>A ENST00000437310.1 + 1 826 c.766G>A c.(766-768)Gcc>Acc p.A256T NM_001005514.1 NP_001005514.1 A6NHG9 O5H14_HUMAN olfactory receptor, family 5, subfamily H, member 14 256 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 TGGGCCCCTCGCCTTCATGTA 0.413000 20 34 0 0 1 0 0 OR5K4 403278 broad.mit.edu 37 3 98073450 98073450 + Silent SNP T T C TCGA-EL-A3CX-01A-11D-A19J-08 TCGA-EL-A3CX-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a33fd2-085c-488b-b843-2ca97c85a5cb 180bbc51-bde0-4489-ad9d-ec66b632839b g.chr3:98073450T>C ENST00000354924.2 + 1 753 c.753T>C c.(751-753)ttT>ttC p.F251F RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005517.1 NP_001005517.1 A6NMS3 OR5K4_HUMAN olfactory receptor, family 5, subfamily K, member 4 251 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 21 TCTCAATATTTTACATTTGTC 0.363000 67 62 0 0 1 0 0 PISD 23761 broad.mit.edu 37 22 32019743 32019743 + Missense_Mutation SNP G G A TCGA-EL-A3CX-01A-11D-A19J-08 TCGA-EL-A3CX-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a33fd2-085c-488b-b843-2ca97c85a5cb 180bbc51-bde0-4489-ad9d-ec66b632839b g.chr22:32019743G>A ENST00000382151.2 - 3 565 c.146C>T c.(145-147)aCc>aTc p.T49I PISD_ENST00000439502.2_Intron|PISD_ENST00000397500.1_Missense_Mutation_p.T49I|PISD_ENST00000336566.4_Intron|PISD_ENST00000478893.1_5'UTR|PISD_ENST00000266095.5_Missense_Mutation_p.T49I Q9UG56 PISD_HUMAN phosphatidylserine decarboxylase 0 phospholipid biosynthetic process mitochondrion phosphatidylserine decarboxylase activity central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1) 12 Phosphatidylserine(DB00144) GTAGAGGACGGTCAAGGGCCA 0.672000 3 40 0 0 1 0 0 MMRN1 22915 broad.mit.edu 37 4 90857420 90857421 + Frame_Shift_Del DEL AG AG - TCGA-EL-A3CX-01A-11D-A19J-08 TCGA-EL-A3CX-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a33fd2-085c-488b-b843-2ca97c85a5cb 180bbc51-bde0-4489-ad9d-ec66b632839b g.chr4:90857420_90857421delAG ENST00000394980.1 + 7 2908_2909 c.2589_2590delAG c.(2587-2592)caacfs p.QD863fs MMRN1_ENST00000508372.1_Frame_Shift_Del_p.QD605fs|MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Frame_Shift_Del_p.QD863fs Q13201 MMRN1_HUMAN multimerin 1 863 cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2) 72 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) CTCGGTTGCAAGACATTGAGTC 0.366 8 12 --- --- --- --- ADAMTS16 170690 broad.mit.edu 37 5 5140871 5140871 + Frame_Shift_Del DEL A A - TCGA-EL-A3CX-01A-11D-A19J-08 TCGA-EL-A3CX-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a33fd2-085c-488b-b843-2ca97c85a5cb 180bbc51-bde0-4489-ad9d-ec66b632839b g.chr5:5140871delA ENST00000274181.7 + 2 305 c.167delA c.(166-168)gafs p.E56fs ADAMTS16_ENST00000511368.1_Frame_Shift_Del_p.E56fs NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 56 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 GGCTGGATGGAAAAGGGCGGT 0.652 2 4 --- --- --- --- GTF2IRD1P1 0 broad.mit.edu 37 7 66304731 66304731 + RNA DEL T T - TCGA-EL-A3CX-01A-11D-A19J-08 TCGA-EL-A3CX-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a33fd2-085c-488b-b843-2ca97c85a5cb 180bbc51-bde0-4489-ad9d-ec66b632839b g.chr7:66304731delT ENST00000457166.1 - 0 189 NR_003934.1 TTTCTTTCCCttttttttttt 0.512 2 4 --- --- --- --- RP11-26F2.1 0 broad.mit.edu 37 15 23131706 23131706 + RNA DEL A A - TCGA-EL-A3CX-01A-11D-A19J-08 TCGA-EL-A3CX-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a33fd2-085c-488b-b843-2ca97c85a5cb 180bbc51-bde0-4489-ad9d-ec66b632839b g.chr15:23131706delA ENST00000560053.1 - 0 129 GATATTCTCCAATGTCATTTT 0.259 5 8 --- --- --- --- SLC24A1 9187 broad.mit.edu 37 15 65918177 65918179 + In_Frame_Del DEL CTG CTG - TCGA-EL-A3CX-01A-11D-A19J-08 TCGA-EL-A3CX-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a33fd2-085c-488b-b843-2ca97c85a5cb 180bbc51-bde0-4489-ad9d-ec66b632839b g.chr15:65918177_65918179delCTG ENST00000261892.6 + 2 2046_2048 c.1759_1761delCTG c.(1759-1761)del p.L591del SLC24A1_ENST00000339868.6_In_Frame_Del_p.L591del|SLC24A1_ENST00000537259.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000399033.4_In_Frame_Del_p.L591del|SLC24A1_ENST00000544319.2_In_Frame_Del_p.L591del|SLC24A1_ENST00000546330.1_In_Frame_Del_p.L591del NM_001254740.1|NM_004727.2 NP_001241669.1|NP_004718.1 O60721 NCKX1_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 591 response to light intensity|visual perception integral to plasma membrane|membrane fraction|outer membrane calcium, potassium:sodium antiporter activity|protein binding|symporter activity breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 GTGGGAGAGCCTGCTGCTGCTGC 0.547 7 100 --- --- --- --- HCRT 3060 broad.mit.edu 37 17 40336501 40336503 + In_Frame_Del DEL GCA GCA - TCGA-EL-A3CX-01A-11D-A19J-08 TCGA-EL-A3CX-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a33fd2-085c-488b-b843-2ca97c85a5cb 180bbc51-bde0-4489-ad9d-ec66b632839b g.chr17:40336501_40336503delGCA ENST00000293330.1 - 2 151_153 c.65_67delTGC c.(64-69)ccg>c p.LP22del NM_001524.1 NP_001515.1 O43612 OREX_HUMAN hypocretin (orexin) neuropeptide precursor 22 neuropeptide signaling pathway cell junction|extracellular region|rough endoplasmic reticulum|synaptic vesicle p.L22delL(1) breast(1)|central_nervous_system(1) 2 all_cancers(22;1.39e-06)|all_epithelial(22;9.98e-06)|Breast(137;0.000143)|Ovarian(249;0.0221)|Myeloproliferative disorder(1115;0.0255)|Colorectal(1115;0.069) BRCA - Breast invasive adenocarcinoma(366;0.124) AGCGCGGgcggcagcagcagcag 0.704 3 5 --- --- --- --- AC005307.3 0 broad.mit.edu 37 19 29198771 29198771 + RNA DEL T T - TCGA-EL-A3CX-01A-11D-A19J-08 TCGA-EL-A3CX-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a33fd2-085c-488b-b843-2ca97c85a5cb 180bbc51-bde0-4489-ad9d-ec66b632839b g.chr19:29198771delT ENST00000592347.1 - 0 642 ATGGACACCCTTTGCTTAGAT 0.448 2 4 --- --- --- ---