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 HSPG2 3339 broad.mit.edu 37 1 22159980 22159980 + Missense_Mutation SNP A A G TCGA-HC-7077-01A-11D-1961-08 TCGA-HC-7077-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd03be72-06ff-46b7-920e-533ae0988028 c7014407-f794-4174-bf47-38a2745c06b8 g.chr1:22159980A>G ENST00000374695.3 - 79 11037 c.10958T>C c.(10957-10959)tTt>tCt p.F3653S NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 3653 Ig-like C2-type 22. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) CAGGTGGGCAAAGGCTTTGAC 0.617 6 72 --- --- --- --- RPA2 6118 broad.mit.edu 37 1 28240635 28240635 + Missense_Mutation SNP C C T TCGA-HC-7077-01A-11D-1961-08 TCGA-HC-7077-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd03be72-06ff-46b7-920e-533ae0988028 c7014407-f794-4174-bf47-38a2745c06b8 g.chr1:28240635C>T ENST00000373912.3 - 2 355 c.56G>A c.(55-57)gGc>gAc p.G19D RPA2_ENST00000313433.7_Missense_Mutation_p.G107D|RPA2_ENST00000373909.3_Missense_Mutation_p.G27D NM_002946.3 NP_002937.1 P15927 RFA2_HUMAN replication protein A2, 32kDa 19 Gly/Ser-rich. cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|regulation of double-strand break repair via homologous recombination|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor A complex|PML body protein phosphatase binding|single-stranded DNA binding endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(3)|skin(1) 11 Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557) UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649) CTGCGTGTAGCCGCCGGCTCC 0.537 Direct reversal of damage;Nucleotide excision repair (NER) 5 63 --- --- --- --- FLG 2312 broad.mit.edu 37 1 152281161 152281161 + Silent SNP G G T TCGA-HC-7077-01A-11D-1961-08 TCGA-HC-7077-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd03be72-06ff-46b7-920e-533ae0988028 c7014407-f794-4174-bf47-38a2745c06b8 g.chr1:152281161G>T ENST00000368799.1 - 3 6236 c.6201C>A c.(6199-6201)ccC>ccA p.P2067P FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2067 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCTGCTGATGGGGCCCAGCTT 0.562 Ichthyosis 8 868 --- --- --- --- HMCN1 83872 broad.mit.edu 37 1 185987441 185987441 + Silent SNP T T C TCGA-HC-7077-01A-11D-1961-08 TCGA-HC-7077-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd03be72-06ff-46b7-920e-533ae0988028 c7014407-f794-4174-bf47-38a2745c06b8 g.chr1:185987441T>C ENST00000271588.4 + 34 5656 c.5427T>C c.(5425-5427)aaT>aaC p.N1809N HMCN1_ENST00000367492.2_Silent_p.N1809N NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 1809 Ig-like C2-type 15. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 TGGCAGCAAATACTGCTGGAG 0.393 32 92 --- --- --- --- CENPF 1063 broad.mit.edu 37 1 214819712 214819712 + Nonsense_Mutation SNP G G T TCGA-HC-7077-01A-11D-1961-08 TCGA-HC-7077-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd03be72-06ff-46b7-920e-533ae0988028 c7014407-f794-4174-bf47-38a2745c06b8 g.chr1:214819712G>T ENST00000366955.3 + 13 6967 c.6799G>T c.(6799-6801)Gag>Tag p.E2267* NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 2363 2 X 177 AA tandem repeats.|Interaction with NDE1 and NDEL1. cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) TCAGTTAAAGGAGCTAAATGA 0.423 5 118 --- --- --- --- NCOA1 8648 broad.mit.edu 37 2 24952626 24952626 + Missense_Mutation SNP C C A TCGA-HC-7077-01A-11D-1961-08 TCGA-HC-7077-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd03be72-06ff-46b7-920e-533ae0988028 c7014407-f794-4174-bf47-38a2745c06b8 g.chr2:24952626C>A ENST00000405141.1 + 18 3854 c.3143C>A c.(3142-3144)cCg>cAg p.P1048Q NCOA1_ENST00000395856.3_Missense_Mutation_p.P1048Q|NCOA1_ENST00000538539.1_Missense_Mutation_p.P1048Q|NCOA1_ENST00000406961.1_Missense_Mutation_p.P1048Q|NCOA1_ENST00000348332.3_Missense_Mutation_p.P1048Q|NCOA1_ENST00000288599.5_Missense_Mutation_p.P1048Q|NCOA1_ENST00000407230.1_Missense_Mutation_p.P897Q Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 1048 PAX3/NCOA1(8) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 53 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AACAGACCTCCGGCTGCACCT 0.488 T PAX3 alveolar rhadomyosarcoma 4 150 --- --- --- --- SP140 11262 broad.mit.edu 37 2 231155227 231155227 + Silent SNP A A G TCGA-HC-7077-01A-11D-1961-08 TCGA-HC-7077-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd03be72-06ff-46b7-920e-533ae0988028 c7014407-f794-4174-bf47-38a2745c06b8 g.chr2:231155227A>G ENST00000392045.3 + 19 1887 c.1773A>G c.(1771-1773)ccA>ccG p.P591P SP140_ENST00000420434.3_Silent_p.P564P|SP140_ENST00000417495.3_Silent_p.P477P|SP140_ENST00000350136.5_Silent_p.P460P|SP140_ENST00000486687.2_Silent_p.P515P|SP140_ENST00000343805.6_Silent_p.P531P NM_007237.4 NP_009168.4 Q13342 LY10_HUMAN SP140 nuclear body protein 591 SAND. defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) CTTTGCTTCCAGTGACCTGTG 0.418 4 105 --- --- --- --- ACKR3 57007 broad.mit.edu 37 2 237489567 237489567 + Silent SNP C C A TCGA-HC-7077-01A-11D-1961-08 TCGA-HC-7077-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd03be72-06ff-46b7-920e-533ae0988028 c7014407-f794-4174-bf47-38a2745c06b8 g.chr2:237489567C>A ENST00000272928.3 + 2 769 c.459C>A c.(457-459)ccC>ccA p.P153P NM_020311.2 NP_064707.1 atypical chemokine receptor 3 CCAACACCCCCAGCAGCAGGA 0.562 5 190 --- --- --- --- NUP210 23225 broad.mit.edu 37 3 13370362 13370362 + Nonsense_Mutation SNP C C A TCGA-HC-7077-01A-11D-1961-08 TCGA-HC-7077-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd03be72-06ff-46b7-920e-533ae0988028 c7014407-f794-4174-bf47-38a2745c06b8 g.chr3:13370362C>A ENST00000254508.5 - 31 4277 c.4195G>T c.(4195-4197)Gga>Tga p.G1399* NM_024923.2 NP_079199.2 Q8TEM1 PO210_HUMAN nucleoporin 210kDa 1399 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) ACGGTCATTCCCAAAGGCACG 0.537 5 83 --- --- --- --- GRIP2 80852 broad.mit.edu 37 3 14536380 14536380 + RNA SNP C C T TCGA-HC-7077-01A-11D-1961-08 TCGA-HC-7077-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd03be72-06ff-46b7-920e-533ae0988028 c7014407-f794-4174-bf47-38a2745c06b8 g.chr3:14536380C>T ENST00000273083.3 - 0 3005 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 synaptic transmission cytosol|plasma membrane protein binding endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 25 GGCTGGAGGCCTCCACGGTGG 0.612 12 43 --- --- --- --- FGD5 152273 broad.mit.edu 37 3 14863047 14863047 + Missense_Mutation SNP G G A TCGA-HC-7077-01A-11D-1961-08 TCGA-HC-7077-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd03be72-06ff-46b7-920e-533ae0988028 c7014407-f794-4174-bf47-38a2745c06b8 g.chr3:14863047G>A ENST00000285046.5 + 1 2579 c.2469G>A c.(2467-2469)atG>atA p.M823I FGD5_ENST00000543601.1_Missense_Mutation_p.M582I NM_152536.3 NP_689749.3 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 823 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 ACGTGGACATGAGCAGCTTCA 0.532 8 65 --- --- --- --- C3orf38 285237 broad.mit.edu 37 3 88205229 88205229 + Missense_Mutation SNP T T C TCGA-HC-7077-01A-11D-1961-08 TCGA-HC-7077-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd03be72-06ff-46b7-920e-533ae0988028 c7014407-f794-4174-bf47-38a2745c06b8 g.chr3:88205229T>C ENST00000318887.3 + 3 744 c.434T>C c.(433-435)tTc>tCc p.F145S C3orf38_ENST00000486971.1_Intron NM_173824.3 NP_776185.2 Q5JPI3 CC038_HUMAN chromosome 3 open reading frame 38 145 apoptosis breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 12 Lung NSC(201;0.17) UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661) GGAGAAGAATTCTGTCATTGG 0.368 17 24 --- --- --- --- PARP9 83666 broad.mit.edu 37 3 122259686 122259686 + Silent SNP G G C TCGA-HC-7077-01A-11D-1961-08 TCGA-HC-7077-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd03be72-06ff-46b7-920e-533ae0988028 c7014407-f794-4174-bf47-38a2745c06b8 g.chr3:122259686G>C ENST00000462315.1 - 8 1691 c.1398C>G c.(1396-1398)acC>acG p.T466T PARP9_ENST00000477522.2_Silent_p.T466T|PARP9_ENST00000471785.1_Silent_p.T466T|PARP9_ENST00000360356.2_Silent_p.T501T|PARP9_ENST00000492382.1_Silent_p.T46T NM_001146106.1 NP_001139578.1 Q8IXQ6 PARP9_HUMAN poly (ADP-ribose) polymerase family, member 9 501 Macro 2. cell migration cytosol|nucleus NAD+ ADP-ribosyltransferase activity|protein binding endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3) 34 GBM - Glioblastoma multiforme(114;0.0519) TCTCCTCTCTGGTTGACTGGG 0.448 17 161 --- --- --- --- CHSY3 337876 broad.mit.edu 37 5 129241302 129241302 + Silent SNP C C A TCGA-HC-7077-01A-11D-1961-08 TCGA-HC-7077-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd03be72-06ff-46b7-920e-533ae0988028 c7014407-f794-4174-bf47-38a2745c06b8 g.chr5:129241302C>A ENST00000305031.4 + 1 1138 c.780C>A c.(778-780)gcC>gcA p.A260A CTC-575N7.1_ENST00000503616.1_RNA|CTC-575N7.1_ENST00000515569.1_RNA NM_175856.4 NP_787052.3 Q70JA7 CHSS3_HUMAN chondroitin sulfate synthase 3 260 Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1) 28 all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.136) TCATGCGCGCCGACGACGATG 0.567 4 218 --- --- --- --- RBM22 55696 broad.mit.edu 37 5 150073641 150073641 + Missense_Mutation SNP C C T TCGA-HC-7077-01A-11D-1961-08 TCGA-HC-7077-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd03be72-06ff-46b7-920e-533ae0988028 c7014407-f794-4174-bf47-38a2745c06b8 g.chr5:150073641C>T ENST00000199814.4 - 8 1029 c.908G>A c.(907-909)gGa>gAa p.G303E RBM22_ENST00000447771.2_Missense_Mutation_p.G254E|RBM22_ENST00000540000.1_Missense_Mutation_p.G254E NM_018047.2 NP_060517.1 Q9NW64 RBM22_HUMAN RNA binding motif protein 22 303 RRM. protein import into nucleus, translocation catalytic step 2 spliceosome|cytoplasm calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1) 17 Medulloblastoma(196;0.167) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTCTCACCTTCCCCATTTCAC 0.388 11 71 --- --- --- --- TCP11 6954 broad.mit.edu 37 6 35088704 35088704 + Missense_Mutation SNP G G A TCGA-HC-7077-01A-11D-1961-08 TCGA-HC-7077-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd03be72-06ff-46b7-920e-533ae0988028 c7014407-f794-4174-bf47-38a2745c06b8 g.chr6:35088704G>A ENST00000311875.5 - 6 1153 c.736C>T c.(736-738)Ctc>Ttc p.L246F TCP11_ENST00000373979.2_Missense_Mutation_p.L171F|TCP11_ENST00000244645.3_Missense_Mutation_p.L171F|TCP11_ENST00000418521.2_Missense_Mutation_p.L170F|TCP11_ENST00000373974.4_Missense_Mutation_p.L200F|TCP11_ENST00000444780.2_Missense_Mutation_p.L241F|TCP11_ENST00000412155.2_Missense_Mutation_p.L195F|TCP11_ENST00000512012.1_Missense_Mutation_p.L233F Q8WWU5 TCP11_HUMAN t-complex 11, testis-specific 233 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4) 27 TTATTGAGGAGTTCCTGGAAT 0.448 12 582 --- --- --- --- PNPLA1 285848 broad.mit.edu 37 6 36270248 36270248 + Splice_Site SNP T T C TCGA-HC-7077-01A-11D-1961-08 TCGA-HC-7077-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd03be72-06ff-46b7-920e-533ae0988028 c7014407-f794-4174-bf47-38a2745c06b8 g.chr6:36270248T>C ENST00000394571.2 + 6 1384 c.e6+2 PNPLA1_ENST00000312917.5_Splice_Site|PNPLA1_ENST00000388715.3_Splice_Site NM_001145717.1 NP_001139189.2 Q8N8W4 PLPL1_HUMAN patatin-like phospholipase domain containing 1 lipid catabolic process hydrolase activity breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 22 AGCCCCAAGGTATGGACCCTT 0.567 OREG0017382 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 50 137 --- --- --- --- IMPG1 3617 broad.mit.edu 37 6 76660411 76660411 + Missense_Mutation SNP C C A TCGA-HC-7077-01A-11D-1961-08 TCGA-HC-7077-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd03be72-06ff-46b7-920e-533ae0988028 c7014407-f794-4174-bf47-38a2745c06b8 g.chr6:76660411C>A ENST00000369950.3 - 13 1881 c.1692G>T c.(1690-1692)atG>atT p.M564I IMPG1_ENST00000369963.3_3'UTR NM_001282368.1|NM_001563.2 NP_001269297.1|NP_001554.2 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 564 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) GGGCAATGGTCATAGAACTAG 0.493 5 92 --- --- --- --- SHH 6469 broad.mit.edu 37 7 155599019 155599019 + Missense_Mutation SNP T T C TCGA-HC-7077-01A-11D-1961-08 TCGA-HC-7077-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd03be72-06ff-46b7-920e-533ae0988028 c7014407-f794-4174-bf47-38a2745c06b8 g.chr7:155599019T>C ENST00000297261.2 - 2 683 c.533A>G c.(532-534)aAg>aGg p.K178R NM_000193.2 NP_000184.1 Q15465 SHH_HUMAN sonic hedgehog 178 Missing (in HPE3). androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development cell surface|extracellular space|membrane raft|plasma membrane calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 14 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00882) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GATATGTGCCTTGGACTCGTA 0.632 17 101 --- --- --- --- PLEC 5339 broad.mit.edu 37 8 145003714 145003714 + Missense_Mutation SNP C C A TCGA-HC-7077-01A-11D-1961-08 TCGA-HC-7077-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd03be72-06ff-46b7-920e-533ae0988028 c7014407-f794-4174-bf47-38a2745c06b8 g.chr8:145003714C>A ENST00000322810.4 - 24 3529 c.3360G>T c.(3358-3360)caG>caT p.Q1120H PLEC_ENST00000398774.2_Missense_Mutation_p.Q951H|PLEC_ENST00000354958.2_Missense_Mutation_p.Q961H|PLEC_ENST00000436759.2_Missense_Mutation_p.Q1010H|PLEC_ENST00000345136.3_Missense_Mutation_p.Q983H|PLEC_ENST00000354589.3_Missense_Mutation_p.Q983H|PLEC_ENST00000357649.2_Missense_Mutation_p.Q987H|PLEC_ENST00000527096.1_Missense_Mutation_p.Q1006H|PLEC_ENST00000356346.3_Missense_Mutation_p.Q969H NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 1120 Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 AGATGCAGCGCTGGCAGCGAG 0.682 9 55 --- --- --- --- TRPM3 80036 broad.mit.edu 37 9 73152085 73152085 + Missense_Mutation SNP C C T TCGA-HC-7077-01A-11D-1961-08 TCGA-HC-7077-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd03be72-06ff-46b7-920e-533ae0988028 c7014407-f794-4174-bf47-38a2745c06b8 g.chr9:73152085C>T ENST00000377110.3 - 25 4151 c.3908G>A c.(3907-3909)aGc>aAc p.S1303N TRPM3_ENST00000357533.2_Missense_Mutation_p.S1307N|TRPM3_ENST00000358082.3_Missense_Mutation_p.S1165N|TRPM3_ENST00000377111.2_Missense_Mutation_p.S1303N|TRPM3_ENST00000396285.1_Missense_Mutation_p.S1162N|TRPM3_ENST00000423814.3_Missense_Mutation_p.S1330N|TRPM3_ENST00000360823.2_Missense_Mutation_p.S1165N|TRPM3_ENST00000396292.4_Missense_Mutation_p.S1175N|TRPM3_ENST00000377105.1_Missense_Mutation_p.S1162N|TRPM3_ENST00000408909.2_Missense_Mutation_p.S1162N|TRPM3_ENST00000377106.1_Missense_Mutation_p.S1175N|TRPM3_ENST00000396280.5_Missense_Mutation_p.S1152N Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 CCCTTCCTGGCTGTTGAAGCT 0.572 14 167 --- --- --- --- TGFBR1 7046 broad.mit.edu 37 9 101904860 101904860 + Missense_Mutation SNP A A G TCGA-HC-7077-01A-11D-1961-08 TCGA-HC-7077-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd03be72-06ff-46b7-920e-533ae0988028 c7014407-f794-4174-bf47-38a2745c06b8 g.chr9:101904860A>G ENST00000374994.4 + 5 965 c.848A>G c.(847-849)cAt>cGt p.H283R TGFBR1_ENST00000374990.2_Missense_Mutation_p.H206R|TGFBR1_ENST00000552516.1_Missense_Mutation_p.H287R|TGFBR1_ENST00000550253.1_Missense_Mutation_p.H214R NM_004612.2 NP_004603.1 P36897 TGFR1_HUMAN transforming growth factor, beta receptor 1 283 Protein kinase. activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 27 Acute lymphoblastic leukemia(62;0.0559) TCAGATTATCATGAGCATGGA 0.413 16 122 --- --- --- --- INPP5E 56623 broad.mit.edu 37 9 139333278 139333278 + Missense_Mutation SNP G G T TCGA-HC-7077-01A-11D-1961-08 TCGA-HC-7077-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd03be72-06ff-46b7-920e-533ae0988028 c7014407-f794-4174-bf47-38a2745c06b8 g.chr9:139333278G>T ENST00000371712.3 - 1 996 c.594C>A c.(592-594)agC>agA p.S198R NM_019892.4 NP_063945.2 Q9NRR6 INP5E_HUMAN inositol polyphosphate-5-phosphatase, 72 kDa 198 13 X 4 AA repeats of P-X-X-P. cilium axoneme|cytoskeleton|Golgi cisterna membrane inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity NS(1)|endometrium(1)|lung(4)|skin(3) 9 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05) CGATGTCCAGGCTCAGGGCAG 0.711 3 27 --- --- --- --- LARP4B 23185 broad.mit.edu 37 10 888969 888969 + Missense_Mutation SNP C C A TCGA-HC-7077-01A-11D-1961-08 TCGA-HC-7077-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd03be72-06ff-46b7-920e-533ae0988028 c7014407-f794-4174-bf47-38a2745c06b8 g.chr10:888969C>A ENST00000316157.3 - 6 589 c.549G>T c.(547-549)atG>atT p.M183I NM_015155.1 NP_055970.1 Q92615 LAR4B_HUMAN La ribonucleoprotein domain family, member 4B 183 HTH La-type RNA-binding. nucleotide binding|RNA binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2) 38 GGTCACTATCCATCTGTGATA 0.403 9 30 --- --- --- --- HECTD2 143279 broad.mit.edu 37 10 93253266 93253266 + Splice_Site SNP G G A TCGA-HC-7077-01A-11D-1961-08 TCGA-HC-7077-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd03be72-06ff-46b7-920e-533ae0988028 c7014407-f794-4174-bf47-38a2745c06b8 g.chr10:93253266G>A ENST00000446394.1 + 15 1633 c.e15+1 HECTD2_ENST00000298068.5_Splice_Site|HECTD2_ENST00000536715.1_Splice_Site|HECTD2_ENST00000371667.1_Splice_Site NM_001284274.1 NP_001271203.1 Q5U5R9 HECD2_HUMAN HECT domain containing E3 ubiquitin protein ligase 2 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1) 27 GGTTGGAATTGTATCCTTTAA 0.308 15 30 --- --- --- --- KCNQ1 3784 broad.mit.edu 37 11 2549250 2549250 + Splice_Site SNP T T C TCGA-HC-7077-01A-11D-1961-08 TCGA-HC-7077-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd03be72-06ff-46b7-920e-533ae0988028 c7014407-f794-4174-bf47-38a2745c06b8 g.chr11:2549250T>C ENST00000155840.5 + 2 585 c.e2+2 KCNQ1_ENST00000335475.5_Splice_Site NM_000218.2 NP_000209.2 P51787 KCNQ1_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 1 blood circulation|membrane depolarization|muscle contraction|sensory perception of sound delayed rectifier potassium channel activity|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2) 21 all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159) BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131) Bepridil(DB01244)|Indapamide(DB00808) TTCTGGATGGTACGTAGCATC 0.617 30 77 --- --- --- --- SESN3 143686 broad.mit.edu 37 11 94910979 94910979 + Missense_Mutation SNP T T C TCGA-HC-7077-01A-11D-1961-08 TCGA-HC-7077-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd03be72-06ff-46b7-920e-533ae0988028 c7014407-f794-4174-bf47-38a2745c06b8 g.chr11:94910979T>C ENST00000536441.1 - 8 1487 c.1151A>G c.(1150-1152)aAt>aGt p.N384S SESN3_ENST00000278499.2_Missense_Mutation_p.N245S|RP11-712B9.2_ENST00000534891.1_RNA|RP11-712B9.2_ENST00000534864.1_RNA NM_001271594.1|NM_144665.2 NP_001258523.1|NP_653266.2 P58005 SESN3_HUMAN sestrin 3 384 cell cycle arrest nucleus endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1) 16 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) BRCA - Breast invasive adenocarcinoma(274;0.234) ATATGTGAGATTGTAGACCAT 0.403 4 64 --- --- --- --- DPAGT1 1798 broad.mit.edu 37 11 118972268 118972268 + Missense_Mutation SNP C C A rs1046375 TCGA-HC-7077-01A-11D-1961-08 TCGA-HC-7077-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd03be72-06ff-46b7-920e-533ae0988028 c7014407-f794-4174-bf47-38a2745c06b8 g.chr11:118972268C>A ENST00000409993.2 - 3 1649 c.98G>T c.(97-99)cGg>cTg p.R33L DPAGT1_ENST00000432443.2_5'UTR|DPAGT1_ENST00000445653.1_5'UTR|DPAGT1_ENST00000354202.4_Missense_Mutation_p.R33L Q9H3H5 GPT_HUMAN dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) 33 R -> L (in Ref. 1; CAB04787). dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization integral to endoplasmic reticulum membrane|microsome phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2) 17 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.55e-05) GAAGTGGCCCCGGAAGGCCGG 0.617 OREG0021396 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 223 --- --- --- --- VWF 7450 broad.mit.edu 37 12 6101119 6101119 + Missense_Mutation SNP C C T TCGA-HC-7077-01A-11D-1961-08 TCGA-HC-7077-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd03be72-06ff-46b7-920e-533ae0988028 c7014407-f794-4174-bf47-38a2745c06b8 g.chr12:6101119C>T ENST00000261405.5 - 38 6918 c.6664G>A c.(6664-6666)Ggc>Agc p.G2222S NM_000552.3 NP_000543 P04275 VWF_HUMAN von Willebrand factor 2222 E2. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) CTCACGTTGCCATCACAGTGC 0.567 12 44 --- --- --- --- KIF21A 55605 broad.mit.edu 37 12 39727024 39727024 + Missense_Mutation SNP T T C TCGA-HC-7077-01A-11D-1961-08 TCGA-HC-7077-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd03be72-06ff-46b7-920e-533ae0988028 c7014407-f794-4174-bf47-38a2745c06b8 g.chr12:39727024T>C ENST00000395670.3 - 18 2896 c.2477A>G c.(2476-2478)aAa>aGa p.K826R KIF21A_ENST00000361961.3_Missense_Mutation_p.K813R|KIF21A_ENST00000541463.2_Intron|KIF21A_ENST00000361418.5_Missense_Mutation_p.K826R|KIF21A_ENST00000544797.2_Missense_Mutation_p.K813R Q7Z4S6 KI21A_HUMAN kinesin family member 21A 826 K -> Q (in Ref. 2; AAP97680). microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) CTCTTCAGTTTTGCGACGTAG 0.343 74 177 --- --- --- --- LRRK2 120892 broad.mit.edu 37 12 40677930 40677930 + Missense_Mutation SNP A A G TCGA-HC-7077-01A-11D-1961-08 TCGA-HC-7077-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd03be72-06ff-46b7-920e-533ae0988028 c7014407-f794-4174-bf47-38a2745c06b8 g.chr12:40677930A>G ENST00000298910.7 + 19 2553 c.2495A>G c.(2494-2496)cAa>cGa p.Q832R LRRK2_ENST00000343742.2_Missense_Mutation_p.Q832R NM_198578.3 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 832 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) TTAAGGAAACAAACAAGTAAG 0.313 12 52 --- --- --- --- NAB2 4665 broad.mit.edu 37 12 57486300 57486300 + Missense_Mutation SNP C C A TCGA-HC-7077-01A-11D-1961-08 TCGA-HC-7077-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd03be72-06ff-46b7-920e-533ae0988028 c7014407-f794-4174-bf47-38a2745c06b8 g.chr12:57486300C>A ENST00000300131.3 + 3 1405 c.1027C>A c.(1027-1029)Ctc>Atc p.L343I NAB2_ENST00000357680.4_Intron|NAB2_ENST00000342556.6_Missense_Mutation_p.L343I NM_005967.3 NP_005958.1 Q15742 NAB2_HUMAN NGFI-A binding protein 2 (EGR1 binding protein 2) 343 NCD2. cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus transcription corepressor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 20 GAGAGTGGAGCTCTTCTCTTT 0.582 4 60 --- --- --- --- BEST3 144453 broad.mit.edu 37 12 70072612 70072612 + Silent SNP A A G TCGA-HC-7077-01A-11D-1961-08 TCGA-HC-7077-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd03be72-06ff-46b7-920e-533ae0988028 c7014407-f794-4174-bf47-38a2745c06b8 g.chr12:70072612A>G ENST00000330891.5 - 5 769 c.543T>C c.(541-543)taT>taC p.Y181Y BEST3_ENST00000553096.1_Silent_p.Y75Y|BEST3_ENST00000331471.4_Silent_p.Y181Y|BEST3_ENST00000476098.1_Silent_p.Y19Y|BEST3_ENST00000488961.1_Silent_p.Y19Y NM_001282613.1|NM_032735.2 NP_001269542.1|NP_116124.2 Q8N1M1 BEST3_HUMAN bestrophin 3 181 chloride channel complex|plasma membrane chloride channel activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) ATGGAACCCAATATTTCAGAT 0.358 6 50 --- --- --- --- DIAPH3 81624 broad.mit.edu 37 13 60565296 60565296 + Missense_Mutation SNP T T C TCGA-HC-7077-01A-11D-1961-08 TCGA-HC-7077-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd03be72-06ff-46b7-920e-533ae0988028 c7014407-f794-4174-bf47-38a2745c06b8 g.chr13:60565296T>C ENST00000400324.4 - 12 1577 c.1357A>G c.(1357-1359)Ata>Gta p.I453V DIAPH3_ENST00000267215.4_Missense_Mutation_p.I453V|DIAPH3_ENST00000400330.1_Missense_Mutation_p.I453V|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400320.1_Missense_Mutation_p.I407V|DIAPH3_ENST00000377908.2_Missense_Mutation_p.I442V|DIAPH3_ENST00000400319.1_Missense_Mutation_p.I383V NM_001042517.1|NM_001258366.1 NP_001035982.1|NP_001245295.1 Q9NSV4 DIAP3_HUMAN diaphanous-related formin 3 453 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) TCTTACCTTATAAAATAATCA 0.294 10 28 --- --- --- --- MZT1 440145 broad.mit.edu 37 13 73293092 73293092 + Missense_Mutation SNP T T G TCGA-HC-7077-01A-11D-1961-08 TCGA-HC-7077-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd03be72-06ff-46b7-920e-533ae0988028 c7014407-f794-4174-bf47-38a2745c06b8 g.chr13:73293092T>G ENST00000377818.3 - 2 307 c.223A>C c.(223-225)Aag>Cag p.K75Q NM_001071775.2 NP_001065243.1 Q08AG7 MZT1_HUMAN mitotic spindle organizing protein 1 75 gamma-tubulin complex localization centrosome|gamma-tubulin ring complex|spindle protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(1) 4 TCTCCAACCTTCAGTGCTTCA 0.358 13 170 --- --- --- --- IGHV1-18 28468 broad.mit.edu 37 14 106641580 106641580 + RNA SNP C C T TCGA-HC-7077-01A-11D-1961-08 TCGA-HC-7077-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd03be72-06ff-46b7-920e-533ae0988028 c7014407-f794-4174-bf47-38a2745c06b8 g.chr14:106641580C>T ENST00000390605.2 - 0 392 CAGTAATACACGGCCGTGTCG 0.542 91 69 --- --- --- --- FBN1 2200 broad.mit.edu 37 15 48707834 48707834 + Silent SNP A A G rs143055643 byFrequency TCGA-HC-7077-01A-11D-1961-08 TCGA-HC-7077-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd03be72-06ff-46b7-920e-533ae0988028 c7014407-f794-4174-bf47-38a2745c06b8 g.chr15:48707834A>G ENST00000316623.5 - 64 8405 c.7950T>C c.(7948-7950)aaT>aaC p.N2650N FBN1_ENST00000561429.1_5'UTR NM_000138.4 NP_000129 P35555 FBN1_HUMAN fibrillin 1 2650 EGF-like 47; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) AGCCACATTCATTGATGTCTT 0.582 47 110 --- --- --- --- CYP19A1 1588 broad.mit.edu 37 15 51507272 51507272 + Missense_Mutation SNP A A G TCGA-HC-7077-01A-11D-1961-08 TCGA-HC-7077-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd03be72-06ff-46b7-920e-533ae0988028 c7014407-f794-4174-bf47-38a2745c06b8 g.chr15:51507272A>G ENST00000396402.1 - 8 1169 c.1016T>C c.(1015-1017)gTt>gCt p.V339A CYP19A1_ENST00000260433.2_Missense_Mutation_p.V339A|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000559878.1_Missense_Mutation_p.V339A|CYP19A1_ENST00000396404.4_Missense_Mutation_p.V339A NM_000103.3 NP_000094.2 P11511 CP19A_HUMAN cytochrome P450, family 19, subfamily A, polypeptide 1 339 estrogen biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|membrane fraction aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 33 all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128) Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624) CTTACCAATAACAGTCTGGAT 0.323 10 23 --- --- --- --- CREBBP 1387 broad.mit.edu 37 16 3789711 3789711 + Missense_Mutation SNP C C A TCGA-HC-7077-01A-11D-1961-08 TCGA-HC-7077-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd03be72-06ff-46b7-920e-533ae0988028 c7014407-f794-4174-bf47-38a2745c06b8 g.chr16:3789711C>A ENST00000262367.5 - 25 4957 c.4148G>T c.(4147-4149)gGg>gTg p.G1383V CREBBP_ENST00000382070.3_Missense_Mutation_p.G1345V NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 1383 Cys/His-rich. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) AGACATTTCCCCAGAATCCAC 0.473 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 5 41 --- --- --- --- AMFR 267 broad.mit.edu 37 16 56436913 56436913 + Nonsense_Mutation SNP C C A TCGA-HC-7077-01A-11D-1961-08 TCGA-HC-7077-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd03be72-06ff-46b7-920e-533ae0988028 c7014407-f794-4174-bf47-38a2745c06b8 g.chr16:56436913C>A ENST00000290649.5 - 7 1168 c.958G>T c.(958-960)Gga>Tga p.G320* NM_001144.5 NP_001135.3 Q9UKV5 AMFR2_HUMAN autocrine motility factor receptor, E3 ubiquitin protein ligase 320 endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 TCCATGTTTCCAACCACACGT 0.438 4 122 --- --- --- --- RPA1 6117 broad.mit.edu 37 17 1787221 1787221 + Missense_Mutation SNP C C G TCGA-HC-7077-01A-11D-1961-08 TCGA-HC-7077-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd03be72-06ff-46b7-920e-533ae0988028 c7014407-f794-4174-bf47-38a2745c06b8 g.chr17:1787221C>G ENST00000254719.5 + 13 1467 c.1357C>G c.(1357-1359)Ctg>Gtg p.L453V NM_002945.3 NP_002936.1 P27694 RFA1_HUMAN replication protein A1, 70kDa 453 cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body metal ion binding|protein binding|single-stranded DNA binding breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2) 10 ATCCGAGAACCTGGGCCAAGG 0.493 Nucleotide excision repair (NER) 31 66 --- --- --- --- CASKIN2 57513 broad.mit.edu 37 17 73497899 73497899 + Missense_Mutation SNP G G T TCGA-HC-7077-01A-11D-1961-08 TCGA-HC-7077-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd03be72-06ff-46b7-920e-533ae0988028 c7014407-f794-4174-bf47-38a2745c06b8 g.chr17:73497899G>T ENST00000321617.3 - 18 3842 c.3256C>A c.(3256-3258)Ccg>Acg p.P1086T CASKIN2_ENST00000433559.2_Missense_Mutation_p.P1004T NM_020753.3 NP_065804.2 Q8WXE0 CSKI2_HUMAN CASK interacting protein 2 1086 Pro-rich. cytoplasm endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) GGGGCGGCCGGGGGTTCTGTC 0.672 5 240 --- --- --- --- SBNO2 22904 broad.mit.edu 37 19 1113561 1113561 + Silent SNP C C T TCGA-HC-7077-01A-11D-1961-08 TCGA-HC-7077-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd03be72-06ff-46b7-920e-533ae0988028 c7014407-f794-4174-bf47-38a2745c06b8 g.chr19:1113561C>T ENST00000361757.3 - 19 2457 c.2220G>A c.(2218-2220)caG>caA p.Q740Q SBNO2_ENST00000587024.1_Silent_p.Q730Q|SBNO2_ENST00000438103.2_Silent_p.Q683Q NM_014963.2 NP_055778.2 Q9Y2G9 SBNO2_HUMAN strawberry notch homolog 2 (Drosophila) 740 macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137) 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)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGCCGCCCAGCTGGTCGATGA 0.697 4 59 --- --- --- --- MUC16 94025 broad.mit.edu 37 19 9014619 9014619 + Missense_Mutation SNP G G C TCGA-HC-7077-01A-11D-1961-08 TCGA-HC-7077-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd03be72-06ff-46b7-920e-533ae0988028 c7014407-f794-4174-bf47-38a2745c06b8 g.chr19:9014619G>C ENST00000397910.4 - 31 38559 c.38356C>G c.(38356-38358)Cag>Gag p.Q12786E NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12788 SEA 5. Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CAGTATAGCTGCTCCCTGTCC 0.567 49 129 --- --- --- --- DHX34 9704 broad.mit.edu 37 19 47856825 47856825 + Missense_Mutation SNP G G A TCGA-HC-7077-01A-11D-1961-08 TCGA-HC-7077-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd03be72-06ff-46b7-920e-533ae0988028 c7014407-f794-4174-bf47-38a2745c06b8 g.chr19:47856825G>A ENST00000328771.4 + 2 887 c.538G>A c.(538-540)Gtg>Atg p.V180M NM_014681.5 NP_055496.2 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 180 Helicase ATP-binding. intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) GGAGCACCAGGTGGTGGTAGT 0.662 13 47 --- --- --- --- KCNQ2 3785 broad.mit.edu 37 20 62038263 62038263 + Missense_Mutation SNP C C T TCGA-HC-7077-01A-11D-1961-08 TCGA-HC-7077-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd03be72-06ff-46b7-920e-533ae0988028 c7014407-f794-4174-bf47-38a2745c06b8 g.chr20:62038263C>T ENST00000354587.3 - 17 2553 c.2377G>A c.(2377-2379)Gac>Aac p.D793N KCNQ2_ENST00000370224.1_Missense_Mutation_p.D793N|KCNQ2_ENST00000344462.4_Missense_Mutation_p.D754N|KCNQ2_ENST00000360480.3_Missense_Mutation_p.D757N|KCNQ2_ENST00000357249.2_Missense_Mutation_p.D767N|KCNQ2_ENST00000359689.1_Missense_Mutation_p.D785N|KCNQ2_ENST00000359125.2_Missense_Mutation_p.D785N O43526 KCNQ2_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 2 785 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) ATGGACGTGTCGCTGTCCCGC 0.672 10 23 --- --- --- --- UBASH3A 53347 broad.mit.edu 37 21 43829625 43829625 + Missense_Mutation SNP C C T TCGA-HC-7077-01A-11D-1961-08 TCGA-HC-7077-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd03be72-06ff-46b7-920e-533ae0988028 c7014407-f794-4174-bf47-38a2745c06b8 g.chr21:43829625C>T ENST00000319294.6 + 3 293 c.262C>T c.(262-264)Ctt>Ttt p.L88F UBASH3A_ENST00000450356.1_Missense_Mutation_p.L88F|UBASH3A_ENST00000291535.6_Missense_Mutation_p.L88F|UBASH3A_ENST00000398367.1_Missense_Mutation_p.L88F NM_018961.3 NP_061834.1 P57075 UBS3A_HUMAN ubiquitin associated and SH3 domain containing A 88 cytosol|nucleus breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3) 28 GCTGGAAAAACTTCAAGAGTT 0.537 4 112 --- --- --- --- WDR4 10785 broad.mit.edu 37 21 44283564 44283564 + Missense_Mutation SNP T T C TCGA-HC-7077-01A-11D-1961-08 TCGA-HC-7077-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd03be72-06ff-46b7-920e-533ae0988028 c7014407-f794-4174-bf47-38a2745c06b8 g.chr21:44283564T>C ENST00000398208.2 - 4 498 c.439A>G c.(439-441)Atg>Gtg p.M147V WDR4_ENST00000330317.2_Missense_Mutation_p.M147V|WDR4_ENST00000492742.1_5'UTR NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5 NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2 P57081 WDR4_HUMAN WD repeat domain 4 147 tRNA modification cytoplasm|nucleoplasm protein binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2) 11 Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244) TCTAACAGCATAGACAGGTGC 0.612 22 59 --- --- --- --- DRG1 4733 broad.mit.edu 37 22 31829930 31829930 + Missense_Mutation SNP G G T TCGA-HC-7077-01A-11D-1961-08 TCGA-HC-7077-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd03be72-06ff-46b7-920e-533ae0988028 c7014407-f794-4174-bf47-38a2745c06b8 g.chr22:31829930G>T ENST00000331457.4 + 9 1238 c.1077G>T c.(1075-1077)gaG>gaT p.E359D NM_004147.3 NP_004138.1 Q9Y295 DRG1_HUMAN developmentally regulated GTP binding protein 1 359 multicellular organismal development|transcription, DNA-dependent cytoplasm|intermediate filament cytoskeleton|nucleus GTP binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1) 11 TGGAGGATGAGGATGTCATTC 0.488 4 80 --- --- --- --- LRRC41 10489 broad.mit.edu 37 1 46751117 46751117 + Frame_Shift_Del DEL G G - TCGA-HC-7077-01A-11D-1961-08 TCGA-HC-7077-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd03be72-06ff-46b7-920e-533ae0988028 c7014407-f794-4174-bf47-38a2745c06b8 g.chr1:46751117delG ENST00000343304.6 - 4 1697 c.1412delC c.(1411-1413)ccafs p.P471fs LRRC41_ENST00000472710.1_5'UTR NM_006369.4 NP_006360.3 Q15345 LRC41_HUMAN leucine rich repeat containing 41 471 breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 28 Acute lymphoblastic leukemia(166;0.155) TGTGGAGAGTGGAACTGTGAA 0.567 13 77 --- --- --- --- SF1 7536 broad.mit.edu 37 11 64536550 64536551 + Frame_Shift_Del DEL TG TG - TCGA-HC-7077-01A-11D-1961-08 TCGA-HC-7077-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd03be72-06ff-46b7-920e-533ae0988028 c7014407-f794-4174-bf47-38a2745c06b8 g.chr11:64536550_64536551delTG ENST00000377390.3 - 8 1167_1168 c.830_831delCA c.(829-831)acafs p.T277fs SF1_ENST00000489544.1_5'UTR|SF1_ENST00000422298.2_Frame_Shift_Del_p.T162fs|SF1_ENST00000433274.2_Frame_Shift_Del_p.T251fs|SF1_ENST00000334944.5_Frame_Shift_Del_p.T277fs|SF1_ENST00000377387.1_Frame_Shift_Del_p.T402fs|SF1_ENST00000227503.9_Frame_Shift_Del_p.T277fs|SF1_ENST00000377394.3_Frame_Shift_Del_p.T277fs NM_004630.3 NP_004621.2 Q15637 SF01_HUMAN splicing factor 1 277 nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent ribosome|spliceosomal complex protein binding|RNA binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2) 31 TGGTACACACTGTGGTGTTGGT 0.505 82 330 --- --- --- --- KIAA0247 9766 broad.mit.edu 37 14 70125381 70125381 + Frame_Shift_Del DEL C C - TCGA-HC-7077-01A-11D-1961-08 TCGA-HC-7077-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd03be72-06ff-46b7-920e-533ae0988028 c7014407-f794-4174-bf47-38a2745c06b8 g.chr14:70125381delC ENST00000342745.4 + 2 385 c.72delC c.(70-72)ttcfs p.F24fs NM_014734.3 NP_055549.1 Q92537 K0247_HUMAN KIAA0247 24 integral to membrane endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1) 10 all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196) ATGGAGTGTTCCTTCCGCTAG 0.493 23 122 --- --- --- --- CDH5 1003 broad.mit.edu 37 16 66431906 66431906 + Frame_Shift_Del DEL C C - TCGA-HC-7077-01A-11D-1961-08 TCGA-HC-7077-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd03be72-06ff-46b7-920e-533ae0988028 c7014407-f794-4174-bf47-38a2745c06b8 g.chr16:66431906delC ENST00000341529.3 + 9 1530 c.1382delC c.(1381-1383)tccfs p.S461fs CDH5_ENST00000539168.1_5'UTR NM_001795.3 NP_001786.2 P33151 CADH5_HUMAN cadherin 5, type 2 (vascular endothelium) 461 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity integral to membrane|membrane fraction beta-catenin binding|calcium ion binding|ion channel binding|receptor binding central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 Ovarian(137;0.0955) OV - Ovarian serous cystadenocarcinoma(108;0.107) GGAAAAGAATCCATTGTGCAA 0.542 45 131 --- --- --- ---