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 SPHKAP 80309 broad.mit.edu 37 2 228860288 228860288 + Missense_Mutation SNP G G A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr2:228860288G>A ENST00000392056.3 - 8 4617 c.4571C>T c.(4570-4572)gCc>gTc p.A1524V SPHKAP_ENST00000344657.5_Missense_Mutation_p.A1524V NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1524 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TTCCTCATTGGCAAGCTGGGT 0.572000 7 580 0 0 0.038147 0 0 MYADM 91663 broad.mit.edu 37 19 54377360 54377360 + Missense_Mutation SNP G G T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr19:54377360G>T ENST00000391769.2 + 3 857 c.577G>T c.(577-579)Gac>Tac p.D193Y MYADM_ENST00000391768.2_Missense_Mutation_p.D193Y|MYADM_ENST00000391770.4_Missense_Mutation_p.D193Y|MYADM_ENST00000391771.1_Missense_Mutation_p.D193Y|MYADM_ENST00000336967.3_Missense_Mutation_p.D193Y NM_001020821.1 NP_001018657.1 Q96S97 MYADM_HUMAN myeloid-associated differentiation marker 193 MARVEL 2. integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 12 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.0488) GTTCATCAGCGACCCCAACCT 0.642000 8 425 0.0581538 0.0866955 0.058154 1 0 HMGB3 3149 broad.mit.edu 37 X 150156360 150156360 + Silent SNP G G A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chrX:150156360G>A ENST00000325307.7 + 5 672 c.576G>A c.(574-576)gaG>gaA p.E192E HMGB3_ENST00000448905.2_Silent_p.E192E NM_005342.2 NP_005333.2 O15347 HMGB3_HUMAN high mobility group box 3 192 Asp/Glu-rich (acidic). DNA recombination|multicellular organismal development chromosome|nucleus DNA bending activity|double-stranded DNA binding p.E192E(1) endometrium(3)|large_intestine(2)|lung(2)|skin(1) 8 Acute lymphoblastic leukemia(192;6.56e-05) aggaagaagaggaggaggagg 0.443000 5 235 0 0 0.184627 0 0 PHGDH 26227 broad.mit.edu 37 1 120263916 120263916 + Missense_Mutation SNP G G A rs142988234 TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr1:120263916G>A ENST00000369407.3 + 1 1667 c.160G>A c.(160-162)Gca>Aca p.A54T PHGDH_ENST00000369409.4_Missense_Mutation_p.A88T O43175 SERA_HUMAN phosphoglycerate dehydrogenase 88 brain development|L-serine biosynthetic process electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2) 18 all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219) all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347) Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593) NADH(DB00157) TCTGGAGGCCGCAACAAGGAA 0.587000 5 371 0 0 0.217242 0 0 TBC1D2B 23102 broad.mit.edu 37 15 78290635 78290635 + Missense_Mutation SNP C C T rs117285325 by1000genomes TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr15:78290635C>T ENST00000409931.3 - 13 2778 c.2707G>A c.(2707-2709)Gac>Aac p.D903N TBC1D2B_ENST00000300584.3_Missense_Mutation_p.R920Q|TBC1D2B_ENST00000492078.1_5'UTR Q9UPU7 TBD2B_HUMAN TBC1 domain family, member 2B 0 intracellular protein binding|Rab GTPase activator activity p.D903N(3)|p.R920Q(1) breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 26 GTAGGCGCGTCGGTTCCGGAT 0.617000 6 60 0 0 0.093190 0 0 TNFAIP3 7128 broad.mit.edu 37 6 138199962 138199962 + Silent SNP C C T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr6:138199962C>T ENST00000237289.4 + 7 1446 c.1380C>T c.(1378-1380)gcC>gcT p.A460A NM_001270507.1|NM_001270508.1|NM_006290.3 NP_001257436.1|NP_001257437.1|NP_006281.1 P21580 TNAP3_HUMAN tumor necrosis factor, alpha-induced protein 3 460 Interaction with NAF1 (By similarity). anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide centrosome|cytosol|nucleus caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding p.0?(25)|p.P450fs*21(1) breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 225 Breast(32;0.135)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468) CTCATTCGGCCCCACCGACAG 0.642000 """D, N, F""" """marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma""" 28 168 0 0 0.134883 0 0 ZNF717 100131827 broad.mit.edu 37 3 75790798 75790798 + Translation_Start_Site SNP G G A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr3:75790798G>A ENST00000478296.1 - 0 273 ZNF717_ENST00000400845.3_Silent_p.D42D|ZNF717_ENST00000422325.1_Silent_p.D49D|ZNF717_ENST00000491507.1_5'UTR|ZNF717_ENST00000477374.1_Silent_p.D49D C9JSV9 C9JSV9_HUMAN zinc finger protein 717 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7) 19 CCAGCATCACGTCCCTGTACA 0.502000 4 53 0 0 0.047766 0 0 KDELC2 143888 broad.mit.edu 37 11 108356954 108356954 + Missense_Mutation SNP C C T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr11:108356954C>T ENST00000434945.2 - 2 748 c.446G>A c.(445-447)cGg>cAg p.R149Q KDELC2_ENST00000375648.1_Missense_Mutation_p.R149Q|KDELC2_ENST00000532730.1_5'UTR|KDELC2_ENST00000323468.5_Missense_Mutation_p.R205Q Q7Z4H8 KDEL2_HUMAN KDEL (Lys-Asp-Glu-Leu) containing 2 205 endoplasmic reticulum lumen breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 13 all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14) TAAAGATCTCCGGTAAACATG 0.378000 69 319 0 0 0.139131 0 0 LIMK2 3985 broad.mit.edu 37 22 31658176 31658176 + Missense_Mutation SNP G G A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr22:31658176G>A ENST00000331728.4 + 6 722 c.608G>A c.(607-609)cGc>cAc p.R203H LIMK2_ENST00000340552.4_Missense_Mutation_p.R182H|LIMK2_ENST00000333611.4_Missense_Mutation_p.R182H|LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000406516.1_Missense_Mutation_p.R125H NM_005569.3 NP_005560.1 P53671 LIMK2_HUMAN LIM domain kinase 2 203 PDZ. mitochondrion|nucleus ATP binding|protein serine/threonine kinase activity|zinc ion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1) 29 CCTGGGGACCGCATCCTGGAG 0.547000 5 458 0 0 0.184627 0 0 USH2A 7399 broad.mit.edu 37 1 216495296 216495296 + Missense_Mutation SNP C C T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr1:216495296C>T ENST00000366943.2 - 9 1959 c.1573G>A c.(1573-1575)Gat>Aat p.D525N USH2A_ENST00000366942.3_Missense_Mutation_p.D525N|USH2A_ENST00000307340.3_Missense_Mutation_p.D525N O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 525 Laminin EGF-like 1. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TCGCAGTTATCGGCATGACCA 0.443000 HNSCC(13;0.011) 43 342 0 0 0.139131 0 0 ESPL1 9700 broad.mit.edu 37 12 53681786 53681786 + Missense_Mutation SNP G G A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr12:53681786G>A ENST00000257934.4 + 19 4298 c.4207G>A c.(4207-4209)Gac>Aac p.D1403N ESPL1_ENST00000552462.1_Missense_Mutation_p.D1403N NM_012291.4 NP_036423.4 Q14674 ESPL1_HUMAN extra spindle pole bodies homolog 1 (S. cerevisiae) 1403 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8) 70 TGACTTGGAAGACCCTGTCTC 0.582000 OREG0021863 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 73 310 0 0 0.139131 0 0 FAM47C 442444 broad.mit.edu 37 X 37028425 37028425 + Missense_Mutation SNP A A G rs145580328 byFrequency TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chrX:37028425A>G ENST00000358047.3 + 1 1994 c.1942A>G c.(1942-1944)Aat>Gat p.N648D NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 648 p.N648D(7) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 GGAGCCTCCCAATACTGGAGT 0.642000 6 339 0 0 0.217242 0 0 CCT3 7203 broad.mit.edu 37 1 156280946 156280946 + Missense_Mutation SNP C C T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr1:156280946C>T ENST00000295688.3 - 12 1476 c.1196G>A c.(1195-1197)cGc>cAc p.R399H CCT3_ENST00000472765.2_Missense_Mutation_p.R354H|CCT3_ENST00000368259.2_Missense_Mutation_p.R361H|CCT3_ENST00000368261.3_Missense_Mutation_p.R354H NM_005998.4 NP_005989.3 P49368 TCPG_HUMAN chaperonin containing TCP1, subunit 3 (gamma) 399 'de novo' posttranslational protein folding cytoskeleton|cytosol|plasma membrane ATP binding|unfolded protein binding endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 22 Hepatocellular(266;0.158) GAGAACATTGCGACACACTTG 0.537000 40 341 0 0 0.098360 0 0 KIAA0020 9933 broad.mit.edu 37 9 2837296 2837296 + Missense_Mutation SNP T T C TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr9:2837296T>C ENST00000397885.2 - 3 394 c.188A>G c.(187-189)aAg>aGg p.K63R NM_014878.4 NP_055693.4 Q15397 K0020_HUMAN KIAA0020 63 endoplasmic reticulum|nucleolus RNA binding NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1) 21 GBM - Glioblastoma multiforme(50;0.0319) CTTTACACCCTTTTTCCCAAG 0.388000 5 771 0 0 0.184627 0 0 OR1J2 26740 broad.mit.edu 37 9 125273336 125273336 + Missense_Mutation SNP C C T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr9:125273336C>T ENST00000335302.5 + 1 256 c.256C>T c.(256-258)Cgg>Tgg p.R86W NM_054107.1 NP_473448.1 Q8NGS2 OR1J2_HUMAN olfactory receptor, family 1, subfamily J, member 2 86 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1) 26 GATGGACATGCGGACTAAGTA 0.428000 6 526 0 0 0.217242 0 0 SERPINF2 5345 broad.mit.edu 37 17 1648635 1648635 + Silent SNP C C T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr17:1648635C>T ENST00000324015.3 + 4 188 c.111C>T c.(109-111)agC>agT p.S37S SERPINF2_ENST00000450523.2_Silent_p.S37S|SERPINF2_ENST00000382061.4_Silent_p.S37S NM_000934.3 NP_000925.2 P08697 A2AP_HUMAN serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 37 acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis extracellular space|platelet alpha granule lumen protease binding|serine-type endopeptidase inhibitor activity breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) Streptokinase(DB00086) AGCTAACTAGCGGGCCGAACC 0.657000 38 172 0 0 0.225048 0 0 ST8SIA4 7903 broad.mit.edu 37 5 100191950 100191950 + Silent SNP C C A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr5:100191950C>A ENST00000231461.5 - 4 964 c.654G>T c.(652-654)ctG>ctT p.L218L NM_005668.4 NP_005659.1 Q92187 SIA8D_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 218 axon guidance|N-glycan processing integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1) 25 all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203) COAD - Colon adenocarcinoma(37;0.00402) CACTGTCATTCAGCATGGAAA 0.398000 6 435 0.0293803 0.0463599 0.029380 1 0 MYEF2 50804 broad.mit.edu 37 15 48443700 48443700 + Missense_Mutation SNP G G T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr15:48443700G>T ENST00000324324.7 - 13 1555 c.1276C>A c.(1276-1278)Caa>Aaa p.Q426K MYEF2_ENST00000267836.6_Missense_Mutation_p.Q426K NM_016132.3 NP_057216.2 Q9P2K5 MYEF2_HUMAN myelin expression factor 2 426 Gly-rich. Q -> R (in dbSNP:rs2470103). transcription, DNA-dependent Golgi apparatus|nucleus DNA binding|nucleotide binding|RNA binding endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 all_lung(180;0.00217) all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07) CCAAAGCCTTGATTTATTCCA 0.388000 9 1093 0.00829132 0.0137999 0.069234 1 0 ZNF709 163051 broad.mit.edu 37 19 12575380 12575380 + Silent SNP C C T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr19:12575380C>T ENST00000397732.3 - 4 1527 c.1356G>A c.(1354-1356)caG>caA p.Q452Q ZNF709_ENST00000428311.1_Silent_p.Q452Q|CTD-3105H18.18_ENST00000598753.1_Intron NM_152601.3 NP_689814.1 Q8N972 ZN709_HUMAN zinc finger protein 709 452 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(3)|upper_aerodigestive_tract(3) 6 CTTTACCACACTGTTTACATT 0.403000 6 724 0 0 0.217242 0 0 ZNF557 79230 broad.mit.edu 37 19 7083689 7083689 + Silent SNP C C T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr19:7083689C>T ENST00000414706.1 + 8 1700 c.1227C>T c.(1225-1227)tgC>tgT p.C409C ZNF557_ENST00000439035.2_Silent_p.C402C|ZNF557_ENST00000252840.6_Silent_p.C409C NM_001044387.1|NM_001044388.1|NM_024341.2 NP_001037852.1|NP_001037853.1|NP_077317.2 Q8N988 ZN557_HUMAN zinc finger protein 557 402 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 17 Lung(535;0.179) GTAATTATTGCGGGAAATCCT 0.368000 5 457 0 0 0.184627 0 0 STAB2 55576 broad.mit.edu 37 12 104147083 104147083 + Silent SNP C C T rs139125034 TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr12:104147083C>T ENST00000388887.2 + 61 6870 c.6666C>T c.(6664-6666)aaC>aaT p.N2222N RP11-341G23.4_ENST00000551299.1_RNA NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 2222 Link. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 CCTGTGCCAACGAAGCTGCGA 0.552000 48 187 0 0 0.131918 0 0 CES1P1 0 broad.mit.edu 37 16 55803970 55803970 + RNA SNP A A G TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr16:55803970A>G ENST00000571348.1 + 0 545 NR_003276.2 GGTGGTGGTGACCATTCAATA 0.577000 50 69 0 0 0.139131 0 0 BEST1 7439 broad.mit.edu 37 11 61730184 61730184 + Missense_Mutation SNP G G A rs61747600 TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr11:61730184G>A ENST00000449131.2 + 9 1464 c.1378G>A c.(1378-1380)Gat>Aat p.D460N BEST1_ENST00000301774.9_Missense_Mutation_p.D148N|BEST1_ENST00000534553.1_3'UTR|BEST1_ENST00000378042.3_Missense_Mutation_p.D433N|FTH1_ENST00000529631.1_Intron|FTH1_ENST00000529191.1_Intron|BEST1_ENST00000378043.4_Missense_Mutation_p.D520N NM_001139443.1 NP_001132915.1 O76090 BEST1_HUMAN bestrophin 1 520 response to stimulus|transepithelial chloride transport|visual perception basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction chloride channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2) 25 CTCAGAGAGCGATGGGGCCTT 0.468000 34 182 0 0 0.183431 0 0 ANKDD1A 348094 broad.mit.edu 37 15 65219105 65219105 + Silent SNP G G C TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr15:65219105G>C ENST00000380230.3 + 6 506 c.477G>C c.(475-477)ggG>ggC p.G159G AC069368.3_ENST00000437723.1_Intron|ANKDD1A_ENST00000496660.1_Silent_p.G68G|ANKDD1A_ENST00000357698.3_Silent_p.G159G|ANKDD1A_ENST00000395723.1_Silent_p.G68G|ANKDD1A_ENST00000491145.1_3'UTR|ANKDD1A_ENST00000395720.1_Silent_p.G159G|ANKDD1A_ENST00000319580.8_3'UTR NM_182703.3 NP_874362.3 Q495B1 AKD1A_HUMAN ankyrin repeat and death domain containing 1A 159 signal transduction NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2) 21 GCCAGCTGGGGAGGACGGCGT 0.622000 79 371 0 0 0.139131 0 0 DISP1 84976 broad.mit.edu 37 1 223176847 223176847 + Missense_Mutation SNP G G T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr1:223176847G>T ENST00000284476.6 + 8 2272 c.2108G>T c.(2107-2109)cGa>cTa p.R703L NM_032890.3 NP_116279.2 Q96F81 DISP1_HUMAN dispatched homolog 1 (Drosophila) 703 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5) 69 GBM - Glioblastoma multiforme(131;0.102) GAAGCATCTCGAATTTTTTTC 0.418000 8 860 0.0381472 0.0586695 0.038147 1 0 POTEG 404785 broad.mit.edu 37 14 19553823 19553823 + Missense_Mutation SNP G G A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr14:19553823G>A ENST00000409832.3 + 1 459 c.407G>A c.(406-408)cGt>cAt p.R136H NM_001005356.2 NP_001005356.1 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 136 p.R136H(1) cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 47 TACCACGTCCGTCGAGAAGAT 0.577000 44 862 0 0 0.104719 0 0 PBX2 5089 broad.mit.edu 37 6 32155509 32155509 + Missense_Mutation SNP T T A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr6:32155509T>A ENST00000375050.4 - 5 1055 c.785A>T c.(784-786)tAt>tTt p.Y262F NM_002586.4 NP_002577.2 P40425 PBX2_HUMAN pre-B-cell leukemia homeobox 2 262 transcription factor binding p.Y262F(3) endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2) 14 GGAGTAGAAATACTCATTTAG 0.517000 6 84 0 0 0.047766 0 0 FMO5 2330 broad.mit.edu 37 1 146672844 146672844 + Missense_Mutation SNP G G A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr1:146672844G>A ENST00000254090.4 - 7 1461 c.1073C>T c.(1072-1074)cCt>cTt p.P358L FMO5_ENST00000369272.3_Intron|RP11-337C18.8_ENST00000607149.1_RNA|FMO5_ENST00000441068.2_Missense_Mutation_p.P358L NM_001461.2 NP_001452.2 P49326 FMO5_HUMAN flavin containing monooxygenase 5 358 integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1) 25 all_hematologic(923;0.0487) CAGGTTAGGAGGGAAGACCTT 0.468000 11 477 0 0 0.069234 0 0 PTRF 284119 broad.mit.edu 37 17 40557270 40557270 + Nonsense_Mutation SNP G G T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr17:40557270G>T ENST00000357037.5 - 2 1027 c.608C>A c.(607-609)tCg>tAg p.S203* NM_012232.5 NP_036364.2 Q6NZI2 PTRF_HUMAN polymerase I and transcript release factor 203 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm protein binding|rRNA primary transcript binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1) 17 all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134) BRCA - Breast invasive adenocarcinoma(366;0.193) CGCCTCGTCCGACGAAAGCTC 0.662000 6 654 0.0381472 0.0586695 0.038147 1 0 SLCO3A1 28232 broad.mit.edu 37 15 92690367 92690367 + Missense_Mutation SNP C C T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr15:92690367C>T ENST00000318445.6 + 8 1880 c.1666C>T c.(1666-1668)Ccc>Tcc p.P556S SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.P556S NM_013272.3 NP_037404.2 Q9UIG8 SO3A1_HUMAN solute carrier organic anion transporter family, member 3A1 556 sodium-independent organic anion transport integral to membrane|plasma membrane sodium-independent organic anion transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 25 Lung NSC(78;0.0158)|all_lung(78;0.0255) BRCA - Breast invasive adenocarcinoma(143;0.0841) GGCACAGACACCCTCAGTCAT 0.582000 69 283 0 0 0.139131 0 0 RPTN 126638 broad.mit.edu 37 1 152128196 152128196 + Missense_Mutation SNP C C T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr1:152128196C>T ENST00000316073.3 - 3 1443 c.1379G>A c.(1378-1380)aGt>aAt p.S460N NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 460 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 ATAGTGGGAACTCTGGCCTTG 0.512000 21 3600 0 0 0.038147 0 0 SKOR1 390598 broad.mit.edu 37 15 68119541 68119541 + Missense_Mutation SNP A A T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr15:68119541A>T ENST00000380035.2 + 2 1433 c.1375A>T c.(1375-1377)Atg>Ttg p.M459L SKOR1_ENST00000341418.5_Intron|SKOR1_ENST00000389002.1_Missense_Mutation_p.M415L|SKOR1_ENST00000554240.1_Missense_Mutation_p.M420L|SKOR1_ENST00000554054.1_Missense_Mutation_p.M431L P84550 SKOR1_HUMAN SKI family transcriptional corepressor 1 459 negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent cytoplasm|dendrite|neuronal cell body|nucleus nucleotide binding|SMAD binding|transcription repressor activity endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1) 23 cggcggcgccATGTTCTGGGG 0.781000 17 61 0 0 0.146539 0 0 DNM1P47 0 broad.mit.edu 37 15 102294648 102294648 + RNA SNP T T C TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr15:102294648T>C ENST00000561463.1 + 0 2694 TTCTCAGAGCTGCTGTCCAAC 0.587000 6 147 0 0 0.093190 0 0 TBCB 1155 broad.mit.edu 37 19 36616597 36616597 + Silent SNP C C T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr19:36616597C>T ENST00000221855.3 + 6 1223 c.648C>T c.(646-648)tgC>tgT p.C216C TBCB_ENST00000586868.1_3'UTR|TBCB_ENST00000589996.1_3'UTR|TBCB_ENST00000585746.1_Silent_p.C165C NM_001281.2 NP_001272.2 Q99426 TBCB_HUMAN tubulin folding cofactor B 216 CAP-Gly. 'de novo' posttranslational protein folding|cell differentiation|nervous system development cytoplasm|microtubule protein binding p.C216C(1) large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 5 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) ACTTCGAATGCCAGGCCAAGT 0.562000 8 1059 0 0 0.029380 0 0 ZNF7 7553 broad.mit.edu 37 8 146067242 146067242 + Silent SNP C C T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr8:146067242C>T ENST00000528372.1 + 5 990 c.750C>T c.(748-750)taC>taT p.Y250Y ZNF7_ENST00000325241.6_Silent_p.Y250Y|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000544249.1_Silent_p.Y154Y|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000446747.2_Silent_p.Y261Y|ZNF7_ENST00000529819.1_3'UTR P17097 ZNF7_HUMAN zinc finger protein 7 250 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143) Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;2.11e-07) AGAAGCCGTACGAATGTGCAG 0.438000 81 328 0 0 0.139131 0 0 UPF3A 65110 broad.mit.edu 37 13 115047559 115047559 + Silent SNP C C T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr13:115047559C>T ENST00000375299.3 + 2 327 c.271C>T c.(271-273)Ctg>Ttg p.L91L UPF3A_ENST00000351487.5_Silent_p.L91L NM_023011.3 NP_075387.1 Q9H1J1 REN3A_HUMAN UPF3 regulator of nonsense transcripts homolog A (yeast) 91 Required for interaction with UPF2. mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation cytoplasm|nucleus|plasma membrane nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding p.L91L(8) autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 16 Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238) BRCA - Breast invasive adenocarcinoma(86;0.0886) OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2) GCTGCGCCCGCTGCCAGCACA 0.731000 5 48 0 0 0.217242 0 0 PLRG1 5356 broad.mit.edu 37 4 155458483 155458483 + Silent SNP A A C TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr4:155458483A>C ENST00000499023.2 - 14 1566 c.1440T>G c.(1438-1440)gcT>gcG p.A480A PLRG1_ENST00000393905.2_Silent_p.A480A|PLRG1_ENST00000302078.5_Silent_p.A471A NM_001201564.1|NM_002669.3 NP_001188493.1|NP_002660.1 O43660 PLRG1_HUMAN pleiotropic regulator 1 480 catalytic step 2 spliceosome|nuclear speck protein binding|signal transducer activity|transcription corepressor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1) 22 all_hematologic(180;0.215) Renal(120;0.0854) TATCAGCTTCAGCTGTTAGTA 0.408000 52 265 0 0 0.139131 0 0 HRNR 388697 broad.mit.edu 37 1 152192788 152192788 + Silent SNP G G A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr1:152192788G>A ENST00000368801.2 - 3 1392 c.1317C>T c.(1315-1317)tcC>tcT p.S439S FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 439 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CATGTTGGCCGGAGCTGGGAG 0.617000 6 593 0 0 0.217242 0 0 NDEL1 81565 broad.mit.edu 37 17 8370257 8370257 + Missense_Mutation SNP C C T rs138863036 byFrequency TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr17:8370257C>T ENST00000380025.4 + 8 960 c.802C>T c.(802-804)Cgg>Tgg p.R268W NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000299734.7_Intron|NDEL1_ENST00000334527.7_Silent_p.N318N|NDEL1_ENST00000402554.3_3'UTR Q9GZM8 NDEL1_HUMAN nudE neurodevelopment protein 1-like 1 0 Interaction with CENPF.|Interaction with DISC1.|Interaction with NEFL (By similarity).|Required for localization to the centrosome and interaction with dynein, dynactin, tubulin gamma, PCM1 and PCNT1. chromosome segregation|mitotic prometaphase condensed chromosome kinetochore|cytosol|microtubule|spindle large_intestine(6)|lung(4)|skin(3) 13 GGGCAGTAAACGGCTTTGACC 0.537000 49 274 0 0 0.139131 0 0 FOXF1 2294 broad.mit.edu 37 16 86544628 86544628 + Silent SNP C C A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr16:86544628C>A ENST00000262426.4 + 1 496 c.453C>A c.(451-453)ctC>ctA p.L151L NM_001451.2 NP_001442.2 Q12946 FOXF1_HUMAN forkhead box F1 151 branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1) 12 GCCAGGCGCTCAAGCCCATGT 0.667000 6 435 0.00116845 0.0020137 0.217242 1 0 GPR179 440435 broad.mit.edu 37 17 36485562 36485562 + Nonsense_Mutation SNP G G T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr17:36485562G>T ENST00000342292.4 - 11 3910 c.3890C>A c.(3889-3891)tCa>tAa p.S1297* NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 1297 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) TATGGGCTCTGATTTTCCCCG 0.582000 5 283 0.217242 0.299942 0.217242 1 0 ITGAV 3685 broad.mit.edu 37 2 187506230 187506230 + Silent SNP G G T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr2:187506230G>T ENST00000261023.3 + 12 1348 c.1074G>T c.(1072-1074)acG>acT p.T358T ITGAV_ENST00000433736.2_Silent_p.T312T|ITGAV_ENST00000374907.3_Silent_p.T322T|AC017101.10_ENST00000453665.1_RNA NM_002210.3 NP_002201.1 P06756 ITAV_HUMAN integrin, alpha V 358 angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) ACTTCCAGACGACAAAGCTGA 0.498000 7 816 0.0581538 0.0866955 0.058154 1 0 FRG1B 0 broad.mit.edu 37 20 29625971 29625971 + Missense_Mutation SNP C C A rs145033899 TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr20:29625971C>A ENST00000278882.3 + 5 595 c.215C>A c.(214-216)cCa>cAa p.P72Q FRG1B_ENST00000439954.2_Missense_Mutation_p.P77Q|FRG1B_ENST00000358464.4_Missense_Mutation_p.P72Q endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 CAATGGGAACCAGTCTTTCAA 0.328000 8 528 2.32078e-09 4.1467e-09 0.132662 1 0 MYBPH 4608 broad.mit.edu 37 1 203138180 203138180 + Missense_Mutation SNP C C T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr1:203138180C>T ENST00000255416.4 - 9 1328 c.1271G>A c.(1270-1272)gGc>gAc p.G424D NM_004997.2 NP_004988.2 Q13203 MYBPH_HUMAN myosin binding protein H 424 Ig-like C2-type 2. cell adhesion|regulation of striated muscle contraction myosin filament structural constituent of muscle endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(75;0.153) Colorectal(1306;0.0306) TTTGGGGTTGCCCTGGATCTC 0.567000 75 555 0 0 0.139131 0 0 FOLH1B 219595 broad.mit.edu 37 11 89405142 89405142 + RNA SNP C C T rs3018757 by1000genomes TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr11:89405142C>T ENST00000532352.1 + 0 1082 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 GTTCATGAAACTGTGAGGAGC 0.433000 6 632 0 0 0.038147 0 0 FAM83H 286077 broad.mit.edu 37 8 144812372 144812372 + Silent SNP C C T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr8:144812372C>T ENST00000388913.3 - 2 506 c.381G>A c.(379-381)caG>caA p.Q127Q NM_198488.3 NP_940890.3 Q6ZRV2 FA83H_HUMAN family with sequence similarity 83, member H 127 biomineral tissue development central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1) 21 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) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) GGGGCGGTGGCTGCACCAAGG 0.642000 38 126 0 0 0.235728 0 0 KRTAP5-2 440021 broad.mit.edu 37 11 1619378 1619378 + Missense_Mutation SNP G G A rs138454470 byFrequency TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr11:1619378G>A ENST00000412090.1 - 1 146 c.103C>T c.(103-105)Cgt>Tgt p.R35C KRTAP5-AS1_ENST00000424148.1_RNA NM_001004325.1 NP_001004325.1 Q701N4 KRA52_HUMAN keratin associated protein 5-2 35 keratin filament large_intestine(1)|lung(2)|skin(1) 4 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CAGCCCCCACGGCCGGAGCCA 0.687000 7 317 0 0 0.038147 0 0 DICER1 23405 broad.mit.edu 37 14 95590833 95590833 + Missense_Mutation SNP C C T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr14:95590833C>T ENST00000526495.1 - 10 1367 c.1076G>A c.(1075-1077)tGt>tAt p.C359Y DICER1_ENST00000343455.3_Missense_Mutation_p.C359Y|DICER1_ENST00000541352.1_Missense_Mutation_p.C359Y|DICER1_ENST00000393063.1_Missense_Mutation_p.C359Y|DICER1_ENST00000527414.1_Missense_Mutation_p.C359Y Q9UPY3 DICER_HUMAN dicer 1, ribonuclease type III 359 Required for interaction with PRKRA and TARBP2. negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 75 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) GTGCTCTTCACATAGTGCATG 0.373000 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome 103 431 0 0 0.139131 0 0 USP20 0 broad.mit.edu 37 9 132623286 132623286 + Nonsense_Mutation SNP C C A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr9:132623286C>A ENST00000315480.4 + 7 559 c.401C>A c.(400-402)tCa>tAa p.S134* USP20_ENST00000372429.3_Nonsense_Mutation_p.S134*|USP20_ENST00000358355.1_Nonsense_Mutation_p.S134* Q9Y2K6 UBP20_HUMAN ubiquitin specific peptidase 20 134 endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1) 11 Ovarian(14;0.00556) GAGTCTGAGTCAGAGGACGAT 0.577000 7 594 0.00307968 0.00519696 0.038147 1 0 WHAMMP3 0 broad.mit.edu 37 15 23205094 23205094 + RNA SNP G G A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr15:23205094G>A ENST00000400153.2 - 0 760 NR_003521.1 AGTACTGGAAGAACGTGGTTG 0.373000 4 86 0 0 0.150653 0 0 PTPRK 5796 broad.mit.edu 37 6 128294292 128294292 + Missense_Mutation SNP C C A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr6:128294292C>A ENST00000368227.3 - 30 4561 c.4195G>T c.(4195-4197)Ggg>Tgg p.G1399W PTPRK_ENST00000368207.3_Missense_Mutation_p.G1414W|PTPRK_ENST00000368215.3_Missense_Mutation_p.G1381W|PTPRK_ENST00000368210.3_Missense_Mutation_p.G1400W|PTPRK_ENST00000368226.4_Missense_Mutation_p.G1382W|PTPRK_ENST00000532331.1_Missense_Mutation_p.G1404W|PTPRK_ENST00000368213.5_Missense_Mutation_p.G1388W Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 1381 Tyrosine-protein phosphatase 2. cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) CCACTTCGCCCGCCACCATTT 0.428000 6 303 0.0381472 0.0586695 0.038147 1 0 LDHAL6B 92483 broad.mit.edu 37 15 59499545 59499545 + Missense_Mutation SNP G G A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr15:59499545G>A ENST00000307144.4 + 1 504 c.406G>A c.(406-408)Gca>Aca p.A136T MYO1E_ENST00000288235.4_Intron NM_033195.2 NP_149972.1 Q9BYZ2 LDH6B_HUMAN lactate dehydrogenase A-like 6B 136 glycolysis cytoplasm L-lactate dehydrogenase activity|protein binding endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1) 10 NADH(DB00157) CTTTGTCACAGCAAACTCCAA 0.428000 6 615 0 0 0.217242 0 0 CEP89 84902 broad.mit.edu 37 19 33406284 33406284 + Silent SNP G G T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr19:33406284G>T ENST00000305768.4 - 14 1612 c.1524C>A c.(1522-1524)atC>atA p.I508I NM_032816.3 NP_116205.3 Q96ST8 CEP89_HUMAN centrosomal protein 89kDa 508 centrosome|spindle pole breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 35 CTTCCACTGCGATTTTGCCAT 0.393000 6 607 0.0293803 0.0463599 0.029380 1 0 POTEC 388468 broad.mit.edu 37 18 14513764 14513764 + Missense_Mutation SNP C C T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr18:14513764C>T ENST00000358970.5 - 10 1429 c.1430G>A c.(1429-1431)cGg>cAg p.R477Q NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 477 p.R477Q(12) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 AAGTTGTTTCCGGGTATCATT 0.358000 6 455 0 0 0.029380 0 0 CALML6 163688 broad.mit.edu 37 1 1848280 1848280 + Missense_Mutation SNP G G A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr1:1848280G>A ENST00000307786.3 + 4 797 c.343G>A c.(343-345)Gca>Aca p.A115T CALML6_ENST00000462293.1_3'UTR NM_138705.2 NP_619650.2 Q8TD86 CALL6_HUMAN calmodulin-like 6 115 EF-hand 3. cytoplasm|nucleus calcium ion binding p.A115T(2) NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2) 7 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;1.94e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.83e-23)|GBM - Glioblastoma multiforme(42;3.23e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199) GCTGAGGGCGGCATTCCGTGT 0.597000 7 531 0 0 0.029380 0 0 D86994.2 0 broad.mit.edu 37 22 23006961 23006961 + RNA SNP C C T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr22:23006961C>T ENST00000385099.1 + 0 64 GGCTCTGCTCCTCCTCACCCT 0.627000 5 27 0 0 0.184627 0 0 RNF40 9810 broad.mit.edu 37 16 30778186 30778186 + Missense_Mutation SNP A A G TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr16:30778186A>G ENST00000324685.6 + 11 1853 c.1418A>G c.(1417-1419)aAc>aGc p.N473S RNF40_ENST00000563683.1_Missense_Mutation_p.N433S|RNF40_ENST00000357890.5_Missense_Mutation_p.N373S|RNF40_ENST00000402121.3_Missense_Mutation_p.N165S NM_001207033.1|NM_014771.3 NP_001193962.1|NP_055586.1 O75150 BRE1B_HUMAN ring finger protein 40, E3 ubiquitin protein ligase 473 histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process nucleus|synaptosome|ubiquitin ligase complex protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2) 30 Colorectal(24;0.198) CTGGCGGCCAACGAGCAGGCG 0.602000 14 96 0 0 0.132662 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 5 170 0 0 0.184627 0 0 DSCAML1 57453 broad.mit.edu 37 11 117387332 117387332 + Silent SNP G G A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr11:117387332G>A ENST00000321322.6 - 8 1814 c.1813C>T c.(1813-1815)Ctg>Ttg p.L605L DSCAML1_ENST00000527706.1_Silent_p.L335L NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 545 Ig-like C2-type 7. 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) TTGTCTGGCAGCAGCAGGGCA 0.582000 4 190 0 0 0.150653 0 0 BMS1 9790 broad.mit.edu 37 10 43318651 43318651 + Missense_Mutation SNP A A G TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr10:43318651A>G ENST00000374518.4 + 20 3281 c.3218A>G c.(3217-3219)aAa>aGa p.K1073R NM_014753.3 NP_055568.3 Q14692 BMS1_HUMAN BMS1 ribosome biogenesis factor 1073 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 CAGATCAAGAAAGCACTCCGA 0.498000 7 351 0 0 0.093190 0 0 LINC00471 0 broad.mit.edu 37 2 232373630 232373630 + RNA SNP G G A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr2:232373630G>A ENST00000313064.2 - 0 788 NR_024079.1 aaaaaaaaaaggaaaaaGAAA 0.468000 5 42 0 0 0.184627 0 0 WAPAL 23063 broad.mit.edu 37 10 88260206 88260206 + Missense_Mutation SNP T T G TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr10:88260206T>G ENST00000298767.5 - 3 1266 c.794A>C c.(793-795)gAt>gCt p.D265A NM_015045.2 NP_055860.1 Q7Z5K2 WAPL_HUMAN wings apart-like homolog (Drosophila) 265 Mediates interaction with the cohesin complex. cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin chromatin|cohesin complex|cytoplasm protein binding breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1) 31 AAAATCGTCATCCTTCATCTC 0.363000 81 256 0 0 0.139131 0 0 NEB 4703 broad.mit.edu 37 2 152466350 152466350 + Silent SNP T T C TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr2:152466350T>C ENST00000397345.3 - 81 12505 c.12303A>G c.(12301-12303)gcA>gcG p.A4101A NEB_ENST00000409198.1_Silent_p.A3858A|NEB_ENST00000604864.1_Silent_p.A4101A|NEB_ENST00000603639.1_Silent_p.A4101A|NEB_ENST00000427231.2_Silent_p.A4101A|NEB_ENST00000172853.10_Silent_p.A3858A NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 4100 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) AGGCCTTTTTTGCTTGGATAA 0.448000 116 504 0 0 0.139131 0 0 DPY19L2P2 0 broad.mit.edu 37 7 102825946 102825946 + RNA SNP C C T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr7:102825946C>T ENST00000312132.4 - 0 3751 GACAGCTTGACACTTGCCATT 0.373000 8 296 0 0 0.080935 0 0 TNC 3371 broad.mit.edu 37 9 117846677 117846677 + Missense_Mutation SNP G G A rs149181557 by1000genomes TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr9:117846677G>A ENST00000350763.4 - 4 2353 c.1942C>T c.(1942-1944)Cgg>Tgg p.R648W TNC_ENST00000537320.1_Missense_Mutation_p.R648W|TNC_ENST00000535648.1_Missense_Mutation_p.R648W|TNC_ENST00000423613.2_Missense_Mutation_p.R648W|TNC_ENST00000346706.3_Missense_Mutation_p.R648W|TNC_ENST00000341037.4_Missense_Mutation_p.R648W|TNC_ENST00000345230.3_Missense_Mutation_p.R648W|TNC_ENST00000542877.1_Missense_Mutation_p.R648W|TNC_ENST00000340094.3_Missense_Mutation_p.R648W NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 648 Fibronectin type-III 1. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 TCTGTGACCCGCATCTCATTG 0.562000 62 268 0 0 0.139131 0 0 BRD2 6046 broad.mit.edu 37 6 32945220 32945220 + Splice_Site SNP G G A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr6:32945220G>A ENST00000395289.2 + 8 2803 c.1200_splice c.e8-1 p.R401_splice BRD2_ENST00000395287.1_Splice_Site_p.R401_splice|BRD2_ENST00000443797.2_Splice_Site_p.R281_splice|BRD2_ENST00000374831.4_Splice_Site_p.R401_splice|BRD2_ENST00000449085.2_Splice_Site_p.R354_splice|BRD2_ENST00000374825.4_Splice_Site_p.R401_splice P25440 BRD2_HUMAN bromodomain containing 2 401 Bromo 2. spermatogenesis nucleus protein serine/threonine kinase activity central_nervous_system(3)|stomach(2) 5 CTTCTGCAGCGGAAGATGGAG 0.527000 5 584 0 0 0.217242 0 0 ZNF181 339318 broad.mit.edu 37 19 35232318 35232318 + Silent SNP T T G rs2607243 TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr19:35232318T>G ENST00000392232.3 + 6 1332 c.1164T>G c.(1162-1164)acT>acG p.T388T ZNF181_ENST00000459757.1_Silent_p.T343T|ZNF181_ENST00000492450.1_Silent_p.T344T Q2M3W8 ZN181_HUMAN zinc finger protein 181 344 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1) 22 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) GAATTCATACTCAAGAAAAAC 0.388000 7 276 0 0 0.069234 0 0 F5 2153 broad.mit.edu 37 1 169510340 169510340 + Missense_Mutation SNP G G T rs113604388 TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr1:169510340G>T ENST00000367796.3 - 13 4204 c.4003C>A c.(4003-4005)Ctt>Att p.L1335I F5_ENST00000367797.3_Missense_Mutation_p.L1330I P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 1330 35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) TCTAGAGAAAGGGTTGTATGG 0.527000 9 1456 0.00909568 0.0150357 0.150653 1 0 TTC13 79573 broad.mit.edu 37 1 231044752 231044752 + Missense_Mutation SNP G G A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr1:231044752G>A ENST00000366661.4 - 21 2331 c.2324C>T c.(2323-2325)tCg>tTg p.S775L TTC13_ENST00000414259.1_Missense_Mutation_p.S722L|TTC13_ENST00000366662.4_Missense_Mutation_p.S721L NM_024525.4 NP_078801.3 Q8NBP0 TTC13_HUMAN tetratricopeptide repeat domain 13 775 binding central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) COAD - Colon adenocarcinoma(196;0.243) CACGATGACCGAGTAAGCAAT 0.423000 74 579 0 0 0.139131 0 0 RGPD8 727851 broad.mit.edu 37 2 113127775 113127775 + Missense_Mutation SNP G G C TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr2:113127775G>C ENST00000302558.3 - 23 5469 c.5278C>G c.(5278-5280)Cct>Gct p.P1760A RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 p.P1760A(12) endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 GAACGGGAAGGATTTTCTTCC 0.308000 5 356 0 0 0.184627 0 0 BRD1 23774 broad.mit.edu 37 22 50167946 50167946 + Missense_Mutation SNP G G A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr22:50167946G>A ENST00000216267.8 - 12 3598 c.3112C>T c.(3112-3114)Cgc>Tgc p.R1038C BRD1_ENST00000342989.5_Missense_Mutation_p.R764C|BRD1_ENST00000404760.1_Missense_Mutation_p.R1169C|BRD1_ENST00000542442.1_Missense_Mutation_p.R726C|BRD1_ENST00000404034.1_Missense_Mutation_p.R1038C|BRD1_ENST00000457780.2_3'UTR NM_014577.1 NP_055392.1 O95696 BRD1_HUMAN bromodomain containing 1 1038 histone H3 acetylation MOZ/MORF histone acetyltransferase complex zinc ion binding endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 37 all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21) TTCATGGCGCGGTCAAAAGCG 0.577000 7 884 0 0 0.029380 0 0 HLA-DQB2 3120 broad.mit.edu 37 6 32725559 32725559 + Missense_Mutation SNP C C T rs113761247 byFrequency TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr6:32725559C>T ENST00000435145.2 - 4 809 c.748G>A c.(748-750)Ggt>Agt p.G250S HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.G250S Q5SR06 Q5SR06_HUMAN major histocompatibility complex, class II, DQ beta 2 216 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response integral to membrane|MHC class II protein complex endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 CCTTTCTGACCCCTGTGACGG 0.552000 6 75 0 0 0.029380 0 0 SPTLC1 10558 broad.mit.edu 37 9 94812277 94812277 + Missense_Mutation SNP G G T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr9:94812277G>T ENST00000262554.2 - 9 858 c.853C>A c.(853-855)Cat>Aat p.H285N NM_006415.2 NP_006406.1 O15269 SPTC1_HUMAN serine palmitoyltransferase, long chain base subunit 1 285 integral to membrane|SPOTS complex protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 14 L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) CCTCGGCCATGCTCTCCTAGG 0.383000 6 639 0.0381472 0.0586695 0.038147 1 0 TXNDC2 0 broad.mit.edu 37 18 9887461 9887461 + Missense_Mutation SNP A A C TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr18:9887461A>C ENST00000306084.6 + 2 1184 c.985A>C c.(985-987)Atc>Ctc p.I329L TXNDC2_ENST00000536353.2_3'UTR|TXNDC2_ENST00000357775.4_Missense_Mutation_p.I262L NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 329 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 GGAGGGTGACATCCCCAAGTC 0.592000 6 415 0 0 0.029380 0 0 UBBP4 0 broad.mit.edu 37 17 21731270 21731270 + Missense_Mutation SNP T T C TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr17:21731270T>C ENST00000584755.1 + 2 969 c.572T>C c.(571-573)aTc>aCc p.I191T UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR p.I191T(3) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 ATCCCCCCGATCAGCAGAGGC 0.547000 7 388 0 0 0.047766 0 0 TBC1D3F 84218 broad.mit.edu 37 17 36288204 36288204 + Missense_Mutation SNP G G T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr17:36288204G>T ENST00000539424.1 + 2 1715 c.50G>T c.(49-51)cGa>cTa p.R17L TBC1D3F_ENST00000327454.6_Missense_Mutation_p.R97L|TBC1D3F_ENST00000505415.1_Missense_Mutation_p.R97L|TBC1D3F_ENST00000378174.5_Missense_Mutation_p.R97L A6NER0 TBC3F_HUMAN TBC1 domain family, member 3F 97 intracellular Rab GTPase activator activity p.R97Q(1)|p.R97L(1) liver(1)|pancreas(1) 2 CTCATAGATCGAGCGTACAAG 0.547000 10 1633 0.00198382 0.00339484 0.029380 1 0 TEX37 200523 broad.mit.edu 37 2 88828905 88828905 + Silent SNP A A G TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr2:88828905A>G ENST00000303254.3 + 4 598 c.456A>G c.(454-456)ctA>ctG p.L152L NM_152670.2 NP_689883.1 testis expressed 37 GCTACCTGCTACTGCCAGGGT 0.552000 64 248 0 0 0.139131 0 0 EMC10 284361 broad.mit.edu 37 19 50981234 50981234 + Silent SNP C C T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr19:50981234C>T ENST00000376918.3 + 2 209 c.163C>T c.(163-165)Ctg>Ttg p.L55L EMC10_ENST00000334976.6_Silent_p.L55L|EMC10_ENST00000598585.1_Silent_p.L55L NM_175063.4 NP_778233.4 ER membrane protein complex subunit 10 GGTGGGGCTGCTGCTGGAGCA 0.602000 11 41 0 0 0.069234 0 0 CACNA1B 774 broad.mit.edu 37 9 140968501 140968501 + Missense_Mutation SNP G G A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr9:140968501G>A ENST00000277549.5 + 34 4991 c.2422G>A c.(2422-2424)Gcc>Acc p.A808T CACNA1B_ENST00000371355.4_Missense_Mutation_p.A1615T|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A1613T|CACNA1B_ENST00000371372.1_Missense_Mutation_p.A1614T|CACNA1B_ENST00000371363.1_Missense_Mutation_p.A1612T|CACNA1B_ENST00000277551.2_Missense_Mutation_p.A1614T Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 1614 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity p.A1614S(1) NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) CTTCATCTACGCCATCATCGG 0.622000 84 406 0 0 0.139131 0 0 INSRR 3645 broad.mit.edu 37 1 156812204 156812204 + Missense_Mutation SNP G G A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr1:156812204G>A ENST00000368195.3 - 18 3619 c.3223C>T c.(3223-3225)Cgg>Tgg p.R1075W NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 1075 Protein kinase. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GCCTCAGGCCGCAAAGATCGA 0.602000 6 574 0 0 0.217242 0 0 NPAP1 23742 broad.mit.edu 37 15 24922535 24922535 + Missense_Mutation SNP C C A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr15:24922535C>A ENST00000329468.2 + 1 1995 c.1521C>A c.(1519-1521)ttC>ttA p.F507L NM_018958.2 NP_061831.2 nuclear pore associated protein 1 CACCCTCCTTCAAGCCTCCCG 0.537000 9 1110 0.150653 0.220535 0.150653 1 0 FOXD4 2298 broad.mit.edu 37 9 117739 117739 + Silent SNP G G T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr9:117739G>T ENST00000382500.2 - 1 678 c.381C>A c.(379-381)ctC>ctA p.L127L NM_207305.4 NP_997188.2 Q12950 FOXD4_HUMAN forkhead box D4 127 axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3) 14 all_lung(41;0.218) all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) AGATGCCGCTGAGCGTGAGGC 0.637000 9 846 0.0581538 0.0866955 0.058154 1 0 TSSC2 0 broad.mit.edu 37 11 3427759 3427759 + RNA SNP C C T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr11:3427759C>T ENST00000529482.1 + 0 876 TGTCTGCACACGTCCTGCAGT 0.612000 5 191 0 0 0.029380 0 0 HERC2P3 0 broad.mit.edu 37 15 20644585 20644585 + RNA SNP C C T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr15:20644585C>T ENST00000428453.1 - 0 3187 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 CTCTGAGTGACGGCACTGCAC 0.617000 4 37 0 0 0.047766 0 0 RIMS2 9699 broad.mit.edu 37 8 105026833 105026833 + Silent SNP G G A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr8:105026833G>A ENST00000507740.1 + 17 3002 c.2766G>A c.(2764-2766)acG>acA p.T922T RIMS2_ENST00000262231.10_Silent_p.T947T|RIMS2_ENST00000436393.2_Silent_p.T848T|RIMS2_ENST00000406091.3_Silent_p.T1108T NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1170 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) CAAAGGGAACGTTGGATAGAA 0.438000 HNSCC(12;0.0054) 48 185 0 0 0.139131 0 0 NLK 51701 broad.mit.edu 37 17 26495642 26495642 + Missense_Mutation SNP G G A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr17:26495642G>A ENST00000407008.3 + 6 1724 c.1006G>A c.(1006-1008)Gga>Aga p.G336R NM_016231.4 NP_057315.3 Q9UBE8 NLK_HUMAN nemo-like kinase 336 Protein kinase. intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway cytoplasm|nucleus ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1) 14 all_lung(13;0.000343)|Lung NSC(42;0.00184) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) AGAACTACTAGGACGAAGAAT 0.413000 69 273 0 0 0.139131 0 0 GABPB2 126626 broad.mit.edu 37 1 151063024 151063024 + Missense_Mutation SNP C C T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr1:151063024C>T ENST00000368918.3 + 3 582 c.251C>T c.(250-252)gCg>gTg p.A84V GABPB2_ENST00000368916.1_Missense_Mutation_p.A84V|GABPB2_ENST00000368917.1_Missense_Mutation_p.A84V NM_144618.2 NP_653219.1 Q8TAK5 GABP2_HUMAN GA binding protein transcription factor, beta subunit 2 84 positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus protein heterodimerization activity|transcription regulatory region DNA binding breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7) 15 all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662) GATGGACATGCGCACATCGTG 0.488000 5 557 0 0 0.217242 0 0 DPY19L2P1 0 broad.mit.edu 37 7 35131480 35131480 + RNA SNP A A T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr7:35131480A>T ENST00000436258.1 - 0 1889 ATCTTCGTAAAGTGGATGATT 0.423000 5 309 0 0 0.119110 0 0 SLX4 84464 broad.mit.edu 37 16 3639154 3639154 + Silent SNP C C T rs140872903 TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr16:3639154C>T ENST00000294008.3 - 12 5125 c.4485G>A c.(4483-4485)gcG>gcA p.A1495A NM_032444.2 NP_115820.2 Q8IY92 SLX4_HUMAN SLX4 structure-specific endonuclease subunit 1495 Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 CCAGGGAGCCCGCGCCCGAGG 0.647000 Direct reversal of damage 158 652 0 0 0.139131 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 15 193 0 0 0.146539 0 0 SCN1A 6323 broad.mit.edu 37 2 166911170 166911170 + Missense_Mutation SNP C C A rs121917935 TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr2:166911170C>A ENST00000423058.2 - 4 597 c.580G>T c.(580-582)Gat>Tat p.D194Y SCN1A_ENST00000303395.4_Missense_Mutation_p.D194Y|SCN1A_ENST00000375405.3_Missense_Mutation_p.D194Y|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.D194Y|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 194 D -> N (in SMEI; dbSNP:rs121917935). voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) ACAGTGAAATCGAGCCAGTTC 0.338000 5 267 0.184627 0.26547 0.184627 1 0 MUC4 4585 broad.mit.edu 37 3 195511788 195511788 + Silent SNP G G A rs71291863 TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr3:195511788G>A ENST00000463781.3 - 2 7122 c.6663C>T c.(6661-6663)caC>caT p.H2221H MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.H2221H|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 1010 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GAGGGATGGCGTGACCTGTGG 0.597000 5 21 0 0 0.217242 0 0 SLC6A9 6536 broad.mit.edu 37 1 44463241 44463241 + Silent SNP G G A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr1:44463241G>A ENST00000372310.3 - 14 2043 c.1878C>T c.(1876-1878)agC>agT p.S626S SLC6A9_ENST00000357730.2_Silent_p.S645S|SLC6A9_ENST00000475075.2_Silent_p.S515S|SLC6A9_ENST00000372307.3_Intron|SLC6A9_ENST00000360584.2_Silent_p.S699S|SLC6A9_ENST00000372306.3_Intron NM_001024845.2 NP_001020016.1 P48067 SC6A9_HUMAN solute carrier family 6 (neurotransmitter transporter, glycine), member 9 699 integral to plasma membrane|membrane fraction glycine:sodium symporter activity|neurotransmitter:sodium symporter activity endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2) 22 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) Glycine(DB00145) CCTGGAGGCGGCTGGAGCCAT 0.677000 6 568 0 0 0.217242 0 0 NLRP13 126204 broad.mit.edu 37 19 56416346 56416346 + Silent SNP C C T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr19:56416346C>T ENST00000588751.1 - 8 2604 c.2580G>A c.(2578-2580)gcG>gcA p.A860A NLRP13_ENST00000342929.3_Silent_p.A860A Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 860 ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) GAGTCAGGGCCGCACACAATA 0.468000 31 116 0 0 0.173368 0 0 ARHGAP22 58504 broad.mit.edu 37 10 49667870 49667870 + Silent SNP C C T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr10:49667870C>T ENST00000249601.4 - 5 812 c.516G>A c.(514-516)gcG>gcA p.A172A ARHGAP22_ENST00000374170.1_Silent_p.A82A|ARHGAP22_ENST00000435790.2_Silent_p.A178A|ARHGAP22_ENST00000374172.1_Silent_p.A63A|ARHGAP22_ENST00000417912.2_Silent_p.A188A|ARHGAP22_ENST00000417247.2_Silent_p.A82A NM_001256024.1|NM_021226.3 NP_001242953.1|NP_067049.2 Q7Z5H3 RHG22_HUMAN Rho GTPase activating protein 22 172 Rho-GAP. angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol|nucleus GTPase activator activity endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 CCAGCAGGGGCGCCAGGCGGG 0.652000 67 297 0 0 0.139131 0 0 GTF3C1 2975 broad.mit.edu 37 16 27481702 27481702 + Missense_Mutation SNP C C A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr16:27481702C>A ENST00000356183.4 - 31 4556 c.4541G>T c.(4540-4542)cGa>cTa p.R1514L GTF3C1_ENST00000561623.1_Missense_Mutation_p.R1514L NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 1514 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 GCTTGGAAATCGCCACGTAAA 0.502000 6 635 0.217242 0.299942 0.217242 1 0 ZDHHC2 51201 broad.mit.edu 37 8 17067927 17067927 + Silent SNP C C T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr8:17067927C>T ENST00000262096.8 + 10 1583 c.888C>T c.(886-888)tgC>tgT p.C296C NM_016353.4 NP_057437.1 Q9UIJ5 ZDHC2_HUMAN zinc finger, DHHC-type containing 2 296 integral to membrane acyltransferase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1) 8 Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244) TTCCAACTTGCCTTGTTAACC 0.368000 4 161 0 0 0.184627 0 0 GAR1 54433 broad.mit.edu 37 4 110740164 110740164 + Nonsense_Mutation SNP C C A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr4:110740164C>A ENST00000226796.6 + 4 641 c.377C>A c.(376-378)tCa>tAa p.S126* GAR1_ENST00000394631.3_Nonsense_Mutation_p.S126* NM_018983.3 NP_061856.1 Q9NY12 GAR1_HUMAN GAR1 ribonucleoprotein 126 rRNA processing|snRNA pseudouridine synthesis box H/ACA snoRNP complex|Cajal body cation channel activity|pseudouridine synthase activity|snoRNA binding kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1) 9 TAGTATTTTTCAGTTAAGTTG 0.299000 10 403 0.000442599 0.000768226 0.058154 1 0 FAT2 2196 broad.mit.edu 37 5 150947407 150947407 + Missense_Mutation SNP G G T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr5:150947407G>T ENST00000261800.5 - 1 1098 c.1086C>A c.(1084-1086)ttC>ttA p.F362L NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 362 epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CAGCCTTCTCGAATTTGAGGG 0.547000 6 466 0.217242 0.299942 0.217242 1 0 D86994.2 0 broad.mit.edu 37 22 23006960 23006960 + RNA SNP C C A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr22:23006960C>A ENST00000385099.1 + 0 63 GGGCTCTGCTCCTCCTCACCC 0.627000 5 25 1.23904e-05 2.19771e-05 0.184627 1 0 ATP5B 506 broad.mit.edu 37 12 57037629 57037629 + Missense_Mutation SNP C C T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr12:57037629C>T ENST00000262030.3 - 4 649 c.599G>A c.(598-600)gGc>gAc p.G200D ATP5B_ENST00000552919.1_Missense_Mutation_p.G200D NM_001686.3 NP_001677.2 P06576 ATPB_HUMAN ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide 200 angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 ACCAATTTTGCCACCCTTGGC 0.418000 5 427 0 0 0.184627 0 0 RP11-119F19.2 0 broad.mit.edu 37 10 81443821 81443821 + RNA SNP C C G rs150975459 by1000genomes TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr10:81443821C>G ENST00000600376.1 - 0 54 RP11-119F19.2_ENST00000596088.1_RNA GCAGCACCATCGCCTCAGACC 0.612000 5 117 0 0 0.217242 0 0 TRAV3 0 broad.mit.edu 37 14 22192277 22192277 + RNA SNP C C T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr14:22192277C>T ENST00000390425.2 + 0 228 TACAGGTGGGCTGAGAGCTCA 0.478000 71 288 0 0 0.139131 0 0 SORBS2 8470 broad.mit.edu 37 4 186544317 186544317 + Missense_Mutation SNP G G A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr4:186544317G>A ENST00000431808.1 - 14 2817 c.2254C>T c.(2254-2256)Ccg>Tcg p.P752S SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.P852S|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.P752S|SORBS2_ENST00000418609.1_Missense_Mutation_p.P656S O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 752 actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding p.P752S(1) endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) CTGTTGTCCGGCAAGCTCCCC 0.522000 7 908 0 0 0.217242 0 0 SLC18A3 6572 broad.mit.edu 37 10 50820227 50820227 + Nonsense_Mutation SNP G G T rs144340824 TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr10:50820227G>T ENST00000374115.3 + 1 1881 c.1441G>T c.(1441-1443)Gag>Tag p.E481* CHAT_ENST00000339797.1_Intron NM_003055.2 NP_003046.2 Q16572 VACHT_HUMAN solute carrier family 18 (vesicular acetylcholine transporter), member 3 481 neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 43 CTCCCGTTCCGAGCGCGATGT 0.657000 5 293 0.217242 0.299942 0.217242 1 0 CXCR4 0 broad.mit.edu 37 2 136873279 136873279 + Silent SNP C C T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr2:136873279C>T ENST00000409817.1 - 1 534 c.231G>A c.(229-231)acG>acA p.T77T CXCR4_ENST00000241393.3_Silent_p.T73T|CXCR4_ENST00000466288.1_5'UTR NM_001008540.1 NP_001008540.1 P61073 CXCR4_HUMAN chemokine (C-X-C motif) receptor 4 73 activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding p.T77T(1) haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 BRCA - Breast invasive adenocarcinoma(221;0.155) Framycetin(DB00452) TGTACTTGTCCGTCATGCTTC 0.517000 76 346 0 0 0.139131 0 0 SEPT7 989 broad.mit.edu 37 7 35930362 35930362 + Silent SNP T T C TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr7:35930362T>C ENST00000494488.2 + 10 915 c.915T>C c.(913-915)taT>taC p.Y305Y SEPT7_ENST00000399034.2_Silent_p.Y320Y|SEPT7_ENST00000435235.1_Silent_p.Y266Y|SEPT7_ENST00000399035.3_Silent_p.Y318Y|SEPT7_ENST00000350320.6_Silent_p.Y318Y|SEPT7_ENST00000432293.2_Intron Q16181 SEPT7_HUMAN septin 7 319 cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber GTP binding|protein binding|structural molecule activity p.Y320Y(3) central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1) 14 CTGTGACTTATAATGGAGTTG 0.323000 6 118 0 0 0.217242 0 0 ZNF195 0 broad.mit.edu 37 11 3380678 3380678 + Silent SNP C C T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr11:3380678C>T ENST00000354599.6 - 4 1448 c.1344G>A c.(1342-1344)aaG>aaA p.K448K ZNF195_ENST00000005082.9_Silent_p.K497K|ZNF195_ENST00000429541.2_Silent_p.K452K|ZNF195_ENST00000399602.4_Silent_p.K520K|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000343338.7_Silent_p.K452K|ZNF195_ENST00000526601.1_Silent_p.K501K NM_001242843.1|NM_001256825.1|NM_007152.4 NP_001229772.1|NP_001243754.1|NP_009083.2 O14628 ZN195_HUMAN zinc finger protein 195 520 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1) 17 Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965) BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2) ATTTGTAGGGCTTCTCTCCAG 0.403000 7 742 0 0 0.038147 0 0 ASPM 259266 broad.mit.edu 37 1 197062244 197062244 + Nonsense_Mutation SNP C C A rs36074161 TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr1:197062244C>A ENST00000367409.4 - 21 9488 c.9232G>T c.(9232-9234)Gaa>Taa p.E3078* ASPM_ENST00000367408.1_Nonsense_Mutation_p.E743*|ASPM_ENST00000294732.7_Nonsense_Mutation_p.E1493* NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 3078 mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 TTTTTAAATTCAATATATTTT 0.363000 6 579 0.00307968 0.00519696 0.038147 1 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 9 198 0 0 0.047766 0 0 NPIPB5 100132247 broad.mit.edu 37 16 22545865 22545865 + Missense_Mutation SNP G G C rs147500263 by1000genomes TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr16:22545865G>C ENST00000424340.1 + 7 1840 c.1561G>C c.(1561-1563)Gcc>Ccc p.A521P NPIPB5_ENST00000517539.1_Missense_Mutation_p.A521P|NPIPB5_ENST00000415654.1_3'UTR NM_001135865.1 NP_001129337.1 nuclear pore complex interacting protein family, member B5 TCAGCTCACTGCCCTTCCACC 0.567000 8 1206 0 0 0.038147 0 0 F13B 2165 broad.mit.edu 37 1 197032085 197032085 + Nonsense_Mutation SNP G G T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr1:197032085G>T ENST00000367412.1 - 2 210 c.167C>A c.(166-168)tCa>tAa p.S56* NM_001994.2 NP_001985.2 P05160 F13B_HUMAN coagulation factor XIII, B polypeptide 56 Sushi 1. blood coagulation extracellular region breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 GCAGAAAAATGACAATTTTTT 0.398000 9 1140 0.0293803 0.0463599 0.029380 1 0 NPAS3 64067 broad.mit.edu 37 14 34269465 34269465 + Missense_Mutation SNP A A T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr14:34269465A>T ENST00000346562.2 + 11 1930 c.1856A>T c.(1855-1857)gAg>gTg p.E619V NPAS3_ENST00000551492.1_Missense_Mutation_p.E656V|NPAS3_ENST00000357798.5_Missense_Mutation_p.E638V|NPAS3_ENST00000548645.1_Missense_Mutation_p.E621V|NPAS3_ENST00000356141.4_Missense_Mutation_p.E651V NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2 NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1 Q8IXF0 NPAS3_HUMAN neuronal PAS domain protein 3 651 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 40 Breast(36;0.0102)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968) GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115) ATCAAGACGGAGATCTCAGAA 0.627000 36 154 0 0 0.203993 0 0 ANAPC1 64682 broad.mit.edu 37 2 112608394 112608394 + Missense_Mutation SNP T T C TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr2:112608394T>C ENST00000341068.3 - 14 2381 c.1609A>G c.(1609-1611)Act>Gct p.T537A NM_022662.3 NP_073153.1 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 537 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm p.T537A(5) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 49 GGCTTTGGAGTACTAACGCCA 0.433000 7 470 0 0 0.038147 0 0 ADCY10 55811 broad.mit.edu 37 1 167865890 167865890 + Nonsense_Mutation SNP C C A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr1:167865890C>A ENST00000367848.1 - 7 903 c.406G>T c.(406-408)Gaa>Taa p.E136* ADCY10_ENST00000367851.4_Nonsense_Mutation_p.E228*|ADCY10_ENST00000545172.1_Nonsense_Mutation_p.E75* Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 228 Guanylate cyclase 1. intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 GTGAAAAATTCATCAAAATTA 0.358000 8 1228 0.184627 0.26547 0.184627 1 0 FRG1B 0 broad.mit.edu 37 20 29625956 29625956 + Missense_Mutation SNP G G A rs147809085 TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr20:29625956G>A ENST00000278882.3 + 5 580 c.200G>A c.(199-201)aGa>aAa p.R67K FRG1B_ENST00000439954.2_Missense_Mutation_p.R72K|FRG1B_ENST00000358464.4_Missense_Mutation_p.R67K p.R67K(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATTGGACCAAGAGAACAATGG 0.338000 6 514 0 0 0.105934 0 0 SV2A 0 broad.mit.edu 37 1 149882423 149882423 + Missense_Mutation SNP C C T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr1:149882423C>T ENST00000369146.3 - 4 1400 c.910G>A c.(910-912)Ggc>Agc p.G304S SV2A_ENST00000369145.1_Missense_Mutation_p.G304S NM_014849.3 NP_055664.3 Q7L0J3 SV2A_HUMAN synaptic vesicle glycoprotein 2A 304 neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2) 55 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) GCGTACACGCCACCAATCATC 0.562000 50 228 0 0 0.139131 0 0 ZNF219 0 broad.mit.edu 37 14 21561128 21561128 + Nonsense_Mutation SNP C C A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr14:21561128C>A ENST00000360947.3 - 3 739 c.328G>T c.(328-330)Gag>Tag p.E110* ZNF219_ENST00000421093.2_Nonsense_Mutation_p.E110*|ZNF219_ENST00000451119.2_Nonsense_Mutation_p.E110* NM_016423.2 NP_057507.2 Q9P2Y4 ZN219_HUMAN zinc finger protein 219 110 negative regulation of transcription, DNA-dependent integral to membrane|nucleus DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2) 8 all_cancers(95;0.00185) OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08) GBM - Glioblastoma multiforme(265;0.0191) CGTGGGCGCTCGGGCTGGTGT 0.721000 OREG0022565 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 104 0.014758 0.024231 0.184627 1 0 PRG4 10216 broad.mit.edu 37 1 186269304 186269304 + Missense_Mutation SNP A A C TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr1:186269304A>C ENST00000445192.2 + 3 203 c.158A>C c.(157-159)tAc>tCc p.Y53S PRG4_ENST00000367486.3_Missense_Mutation_p.Y53S|PRG4_ENST00000367483.4_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.Y53S|PRG4_ENST00000367484.3_Intron NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 53 SMB 1. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 TGTCAACACTACATGGAGTGC 0.483000 96 723 0 0 0.139131 0 0 KRAS 3845 broad.mit.edu 37 12 25380275 25380275 + Missense_Mutation SNP T T A rs17851045 TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr12:25380275T>A ENST00000311936.3 - 3 374 c.183A>T c.(181-183)caA>caT p.Q61H KRAS_ENST00000557334.1_Intron|KRAS_ENST00000256078.4_Missense_Mutation_p.Q61H NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 61 Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.Q61H(153) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) TGTACTCCTCTTGACCTGCTG 0.423000 Q61H(CL11_LARGE_INTESTINE)|Q61H(HS766T_PANCREAS)|Q61H(NCIH1155_LUNG)|Q61H(NCIH460_LUNG)|Q61H(T3M4_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 72 278 0 0 0.139131 0 0 MGAM 8972 broad.mit.edu 37 7 141766505 141766505 + Missense_Mutation SNP C C T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr7:141766505C>T ENST00000475668.2 + 41 4957 c.4903C>T c.(4903-4905)Cgg>Tgg p.R1635W MGAM_ENST00000549489.2_Intron O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1635 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CACTGTTGTGCGGCCTCTGCT 0.483000 6 669 0 0 0.029380 0 0 APOA4 337 broad.mit.edu 37 11 116692155 116692155 + Nonsense_Mutation SNP C C A rs145184607 TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr11:116692155C>A ENST00000357780.3 - 3 733 c.619G>T c.(619-621)Gaa>Taa p.E207* NM_000482.3 NP_000473.2 apolipoprotein A-IV cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148) ACTTTGAATTCGTCAGCGTAG 0.622000 11 1063 0.0477658 0.0725442 0.047766 1 0 SLC6A9 6536 broad.mit.edu 37 1 44463406 44463406 + Missense_Mutation SNP C C A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr1:44463406C>A ENST00000372310.3 - 14 1878 c.1713G>T c.(1711-1713)ttG>ttT p.L571F SLC6A9_ENST00000357730.2_Missense_Mutation_p.L590F|SLC6A9_ENST00000475075.2_Missense_Mutation_p.L460F|SLC6A9_ENST00000372307.3_Intron|SLC6A9_ENST00000360584.2_Missense_Mutation_p.L644F|SLC6A9_ENST00000372306.3_Intron NM_001024845.2 NP_001020016.1 P48067 SC6A9_HUMAN solute carrier family 6 (neurotransmitter transporter, glycine), member 9 644 integral to plasma membrane|membrane fraction glycine:sodium symporter activity|neurotransmitter:sodium symporter activity endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2) 22 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) Glycine(DB00145) TGGCATTTTTCAAACGCTGCA 0.647000 7 597 0.0293803 0.0463599 0.029380 1 0 MS4A3 932 broad.mit.edu 37 11 59837071 59837071 + Missense_Mutation SNP C C T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr11:59837071C>T ENST00000278865.3 + 6 611 c.538C>T c.(538-540)Ctc>Ttc p.L180F MS4A3_ENST00000534744.1_Missense_Mutation_p.L134F|MS4A3_ENST00000358152.2_Missense_Mutation_p.L134F|MS4A3_ENST00000395032.2_Missense_Mutation_p.L57F NM_006138.4 NP_006129.4 Q96HJ5 MS4A3_HUMAN membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific) 180 endomembrane system|integral to membrane|perinuclear region of cytoplasm protein binding|receptor activity endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 all_epithelial(135;0.245) ACTGCTGATTCTCACCTTGCT 0.413000 14 754 0 0 0.105934 0 0 ZNF462 58499 broad.mit.edu 37 9 109689490 109689490 + Silent SNP A A C TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr9:109689490A>C ENST00000277225.5 + 3 3586 c.3297A>C c.(3295-3297)ccA>ccC p.P1099P ZNF462_ENST00000457913.1_Silent_p.P1099P Q96JM2 ZN462_HUMAN zinc finger protein 462 1099 transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P1099P(1) NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 TGGGTTCCCCACCCCCCCCAC 0.532000 12 128 0 0 0.083992 0 0 MYBPH 4608 broad.mit.edu 37 1 203138179 203138179 + Silent SNP G G A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr1:203138179G>A ENST00000255416.4 - 9 1329 c.1272C>T c.(1270-1272)ggC>ggT p.G424G NM_004997.2 NP_004988.2 Q13203 MYBPH_HUMAN myosin binding protein H 424 Ig-like C2-type 2. cell adhesion|regulation of striated muscle contraction myosin filament structural constituent of muscle endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(75;0.153) Colorectal(1306;0.0306) ATTTGGGGTTGCCCTGGATCT 0.562000 78 563 0 0 0.139131 0 0 KLHL31 401265 broad.mit.edu 37 6 53519025 53519025 + Missense_Mutation SNP G G A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr6:53519025G>A ENST00000370905.3 - 2 1186 c.1046C>T c.(1045-1047)aCg>aTg p.T349M KLHL31_ENST00000407079.1_Missense_Mutation_p.T349M NM_001003760.4 NP_001003760.2 Q9H511 KLH31_HUMAN kelch-like family member 31 349 regulation of transcription, DNA-dependent|transcription, DNA-dependent autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3) 20 Lung NSC(77;0.0158) TGGCATTTCCGTAAGCTTGCT 0.483000 6 421 0 0 0.217242 0 0 TAS2R20 259295 broad.mit.edu 37 12 11149731 11149731 + Silent SNP C C T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr12:11149731C>T ENST00000538986.1 - 1 743 c.744G>A c.(742-744)tcG>tcA p.S248S PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron NM_176889.2 NP_795370.2 P59543 T2R20_HUMAN taste receptor, type 2, member 20 248 sensory perception of taste integral to membrane G-protein coupled receptor activity breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13 AATTCCAAAACGATATGATTA 0.378000 75 348 0 0 0.139131 0 0 OR5A1 219982 broad.mit.edu 37 11 59211572 59211572 + Missense_Mutation SNP A A G TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr11:59211572A>G ENST00000302030.2 + 1 956 c.931A>G c.(931-933)Aag>Gag p.K311E NM_001004728.1 NP_001004728.1 Q8NGJ0 OR5A1_HUMAN olfactory receptor, family 5, subfamily A, member 1 311 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 28 GTTGGAAAGGAAGAAAGTGTT 0.438000 101 456 0 0 0.139131 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128671 45128671 + RNA SNP T T G rs1056072 by1000genomes TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr17:45128671T>G ENST00000575173.1 - 0 418 GCTCACAAAATAAGTTCCAGG 0.323000 7 593 0 0 0.029380 0 0 CD207 50489 broad.mit.edu 37 2 71060828 71060828 + Missense_Mutation SNP G G A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr2:71060828G>A ENST00000410009.3 - 3 559 c.514C>T c.(514-516)Cgg>Tgg p.R172W NM_015717.3 NP_056532.3 Q9UJ71 CLC4K_HUMAN CD207 molecule, langerin 172 defense response to virus endocytic vesicle|integral to membrane mannose binding endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1) 20 TGGAGTGCCCGGATCTTTGTA 0.428000 45 196 0 0 0.139131 0 0 TNS3 64759 broad.mit.edu 37 7 47407972 47407972 + Silent SNP G G A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr7:47407972G>A ENST00000398879.1 - 17 2637 c.2271C>T c.(2269-2271)acC>acT p.T757T TNS3_ENST00000311160.9_Silent_p.T757T|TNS3_ENST00000355730.3_Silent_p.T517T Q68CZ2 TENS3_HUMAN tensin 3 757 focal adhesion protein binding NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 64 CTTGCCGCCCGGTGGCCCTGC 0.632000 6 787 0 0 0.217242 0 0 PCDHB8 0 broad.mit.edu 37 5 140559512 140559512 + Nonsense_Mutation SNP G G T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr5:140559512G>T ENST00000239444.2 + 1 2142 c.1897G>T c.(1897-1899)Gag>Tag p.E633* NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 633 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCTGCTGAGCGAGCGCGACGC 0.692000 5 401 0.184627 0.26547 0.184627 1 0 PLEKHG2 64857 broad.mit.edu 37 19 39908691 39908691 + Missense_Mutation SNP G G T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr19:39908691G>T ENST00000425673.1 + 9 1354 c.1029G>T c.(1027-1029)atG>atT p.M343I PLEKHG2_ENST00000409794.3_Missense_Mutation_p.M343I|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.M284I|PLEKHG2_ENST00000378550.1_Missense_Mutation_p.M343I|PLEKHG2_ENST00000409797.2_Missense_Mutation_p.M343I Q9H7P9 PKHG2_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 2 343 PH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) TCTCTCGGATGCTGCTGGTGG 0.612000 8 62 0.0477658 0.0725442 0.047766 1 0 NAA25 80018 broad.mit.edu 37 12 112516479 112516479 + Nonsense_Mutation SNP C C A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr12:112516479C>A ENST00000261745.4 - 6 792 c.544G>T c.(544-546)Gaa>Taa p.E182* NM_024953.3 NP_079229.2 Q14CX7 NAA25_HUMAN N(alpha)-acetyltransferase 25, NatB auxiliary subunit 182 cytoplasm protein binding autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 46 ACCATTTTTTCGACCATTCTC 0.348000 5 404 0.217242 0.299942 0.217242 1 0 DNM1P47 0 broad.mit.edu 37 15 102294651 102294651 + RNA SNP T T G TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr15:102294651T>G ENST00000561463.1 + 0 2697 TCAGAGCTGCTGTCCAACCTG 0.587000 5 152 0 0 0.093190 0 0 BTBD7 55727 broad.mit.edu 37 14 93761248 93761248 + Nonsense_Mutation SNP C C A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr14:93761248C>A ENST00000334746.5 - 3 425 c.118G>T c.(118-120)Gaa>Taa p.E40* BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000298896.3_Nonsense_Mutation_p.E40*|BTBD7_ENST00000555525.1_Nonsense_Mutation_p.E40* NM_001002860.2 NP_001002860.2 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 40 breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1) 35 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) AACTTTGATTCGCAACCATAG 0.348000 6 442 0.217242 0.299942 0.217242 1 0 OR2M5 127059 broad.mit.edu 37 1 248309316 248309316 + Silent SNP C C A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr1:248309316C>A ENST00000366476.1 + 1 867 c.867C>A c.(865-867)atC>atA p.I289I NM_001004690.1 NP_001004690.1 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, member 5 289 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 49 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) ATCCCCTCATCTACAGCCTCC 0.493000 99 610 3.26951e-42 5.97362e-42 0.139131 1 0 CDKN2A 1029 broad.mit.edu 37 9 21971186 21971186 + Nonsense_Mutation SNP G G A rs121913387 TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr9:21971186G>A ENST00000304494.5 - 2 442 c.172C>T c.(172-174)Cga>Tga p.R58* CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7* NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 58 R -> Q (in dbSNP:rs36204273). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) TCCGCCACTCGGGCGCTGCCC 0.677000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 7 52 0 0 0.038147 0 0 SORBS2 8470 broad.mit.edu 37 4 186544436 186544436 + Nonsense_Mutation SNP G G T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr4:186544436G>T ENST00000431808.1 - 14 2698 c.2135C>A c.(2134-2136)tCg>tAg p.S712* SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000355634.5_Nonsense_Mutation_p.S812*|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_Nonsense_Mutation_p.S712*|SORBS2_ENST00000418609.1_Nonsense_Mutation_p.S616* O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 712 actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) CTTAGGAGCCGAATTTTTTTT 0.448000 7 767 0.0293803 0.0463599 0.029380 1 0 HYOU1 10525 broad.mit.edu 37 11 118919004 118919004 + Missense_Mutation SNP C C T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr11:118919004C>T ENST00000404233.3 - 20 2456 c.2332G>A c.(2332-2334)Gca>Aca p.A778T HYOU1_ENST00000525859.1_Missense_Mutation_p.A716T|HYOU1_ENST00000529972.1_Missense_Mutation_p.A716T NM_001130991.1|NM_006389.3 NP_001124463.1|NP_006380.1 Q9Y4L1 HYOU1_HUMAN hypoxia up-regulated 1 778 endoplasmic reticulum lumen ATP binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2) 33 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207) BRCA - Breast invasive adenocarcinoma(274;7.78e-05) CAGGTGGATGCGGCGCTGAGC 0.617000 7 383 0 0 0.038147 0 0 PHF13 148479 broad.mit.edu 37 1 6680069 6680071 + In_Frame_Del DEL GAA GAA - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr1:6680069_6680071delGAA ENST00000377648.4 + 3 730_732 c.348_350delGAA c.(346-351)ctg>ct p.LK116del PHF13_ENST00000495385.1_Intron NM_153812.2 NP_722519.2 Q86YI8 PHF13_HUMAN PHD finger protein 13 116 cell division|chromatin modification|mitotic chromosome condensation nucleoplasm chromatin binding|methylated histone residue binding|zinc ion binding endometrium(3)|large_intestine(1)|lung(3) 7 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642) cggacaagctgaagaagaagaag 0.576 10 314 --- --- --- --- AADACL3 126767 broad.mit.edu 37 1 12785492 12785493 + Frame_Shift_Ins INS - - T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr1:12785492_12785493insT ENST00000332530.3 + 3 598_599 c.372_373insT c.(370-375)tagtttfs p.*F124fs AADACL3_ENST00000359318.5_Frame_Shift_Ins_p.*F194fs NM_001103169.1 NP_001096639.1 Q5VUY0 ADCL3_HUMAN arylacetamide deacetylase-like 3 194 hydrolase activity breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 15 Ovarian(185;0.249) Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) TCATCTGCTACTGTTTTTTTCA 0.455 7 820 --- --- --- --- SPEN 23013 broad.mit.edu 37 1 16255142 16255143 + Frame_Shift_Del DEL GA GA - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr1:16255142_16255143delGA ENST00000375759.3 + 11 2611_2612 c.2407_2408delGA c.(2407-2409)gfs p.E803fs NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 803 Arg-rich. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) GGAGAGAGTGGAGAGAGAGAGA 0.431 7 503 --- --- --- --- CCDC28B 79140 broad.mit.edu 37 1 32670247 32670248 + Frame_Shift_Del DEL TG TG - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr1:32670247_32670248delTG ENST00000421922.2 + 5 674_675 c.574_575delTG c.(574-576)tfs p.C192fs CCDC28B_ENST00000373602.5_Intron|CCDC28B_ENST00000483009.1_Intron Q9BUN5 CC28B_HUMAN coiled-coil domain containing 28B 0 large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2) 10 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) AACCCGTCTATGTGTGTGTGTT 0.500 9 894 --- --- --- --- PTPRF 5792 broad.mit.edu 37 1 44071946 44071948 + In_Frame_Del DEL GCG GCG - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr1:44071946_44071948delGCG ENST00000359947.4 + 20 3859_3861 c.3519_3521delGCG c.(3517-3522)cag>ca p.QR1173del PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_In_Frame_Del_p.QR521del|PTPRF_ENST00000438120.1_In_Frame_Del_p.QR1164del|PTPRF_ENST00000372413.3_In_Frame_Del_p.QR1164del|PTPRF_ENST00000372414.3_In_Frame_Del_p.QR1173del NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1173 transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GAGAGGAGCAGCGGCGGCGGCGG 0.631 9 500 --- --- --- --- NDC1 55706 broad.mit.edu 37 1 54298190 54298192 + In_Frame_Del DEL TTA TTA - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr1:54298190_54298192delTTA ENST00000371429.3 - 3 849_851 c.251_253delTAA c.(250-255)agt>a p.IS84del NDC1_ENST00000480952.1_5'UTR|NDC1_ENST00000540001.1_In_Frame_Del_p.IS84del|NDC1_ENST00000537333.1_5'UTR|NDC1_ENST00000234725.8_5'UTR NM_001168551.1|NM_018087.4 NP_001162023.1|NP_060557.3 NDC1 transmembrane nucleoporin TTGAAAATACTTATTATTATTAT 0.305 7 212 --- --- --- --- USP1 7398 broad.mit.edu 37 1 62916272 62916272 + Frame_Shift_Del DEL A A - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr1:62916272delA ENST00000339950.4 + 9 2793 c.1978delA c.(1978-1980)aafs p.K661fs USP1_ENST00000371146.1_Frame_Shift_Del_p.K661fs NM_003368.4 NP_003359.3 O94782 UBP1_HUMAN ubiquitin specific peptidase 1 661 DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process nucleoplasm cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1) 19 all_neural(321;0.0281) BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535) AGTTTTGAACAAAAAAAATGT 0.373 7 315 --- --- --- --- TNNI3K 51086 broad.mit.edu 37 1 74957824 74957826 + In_Frame_Del DEL CTT CTT - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr1:74957824_74957826delCTT ENST00000370891.2 + 25 2544_2546 c.2528_2530delCTT c.(2527-2532)cct>c p.PS843del FPGT-TNNI3K_ENST00000557284.1_In_Frame_Del_p.PS843del|TNNI3K_ENST00000326637.3_In_Frame_Del_p.PS742del|LRRC53_ENST00000294635.4_Intron NM_001112808.2 NP_001106279.1 TNNI3 interacting kinase cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 76 TCTCTCTCACCTTCTTCTTCTTC 0.473 8 902 --- --- --- --- TRIM33 51592 broad.mit.edu 37 1 114968116 114968118 + In_Frame_Del DEL TGT TGT - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr1:114968116_114968118delTGT ENST00000358465.2 - 9 1731_1733 c.1648_1650delACA c.(1648-1650)del p.T550del TRIM33_ENST00000450349.2_In_Frame_Del_p.T158del|TRIM33_ENST00000369543.2_In_Frame_Del_p.T550del NM_015906.3 NP_056990.3 Q9UPN9 TRI33_HUMAN tripartite motif containing 33 550 Poly-Thr. negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent nucleus co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 48 all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184) all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GATGCTGTTGTGTTGTTGTTGTT 0.429 T RET papillary thyroid 8 1135 --- --- --- --- POLR3GL 84265 broad.mit.edu 37 1 145457040 145457042 + In_Frame_Del DEL TCT TCT - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr1:145457040_145457042delTCT ENST00000369314.1 - 7 625_627 c.519_521delAGA c.(517-522)gag>ga p.EE173del POLR3GL_ENST00000369313.3_In_Frame_Del_p.EE150del NM_032305.1 NP_115681.1 Q9BT43 RPC7L_HUMAN polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like 173 Glu-rich. endometrium(2)|large_intestine(1)|lung(1) 4 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) ctcttccttctcttcttcttctt 0.448 7 151 --- --- --- --- ISG20L2 81875 broad.mit.edu 37 1 156694023 156694023 + Frame_Shift_Del DEL G G - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr1:156694023delG ENST00000313146.6 - 2 1647 c.865delC c.(865-867)tcfs p.L289fs ISG20L2_ENST00000368219.1_Frame_Shift_Del_p.L289fs|ISG20L2_ENST00000472824.1_5'UTR NM_030980.1 NP_112242.1 Q9H9L3 I20L2_HUMAN interferon stimulated exonuclease gene 20kDa-like 2 289 Exonuclease. ribosome biogenesis nucleolus exonuclease activity|nucleic acid binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 16 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TTCCGGTTGAGGGGGGGGATA 0.557 7 545 --- --- --- --- SYT2 127833 broad.mit.edu 37 1 202573647 202573649 + In_Frame_Del DEL TTC TTC - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr1:202573647_202573649delTTC ENST00000367267.1 - 3 471_473 c.279_281delGAA c.(277-282)aac>aa p.KN93del RP11-569A11.1_ENST00000428573.1_RNA|SYT2_ENST00000367268.4_In_Frame_Del_p.KN93del NM_001136504.1 NP_001129976.1 Q8N9I0 SYT2_HUMAN synaptotagmin II 93 neurotransmitter secretion cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane protein binding|transporter activity p.N94S(1) NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(75;0.169) Botulinum Toxin Type B(DB00042) ctccttcttgttcttcttcttct 0.532 9 534 --- --- --- --- RAB4A 5867 broad.mit.edu 37 1 229422305 229422305 + Frame_Shift_Del DEL A A - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr1:229422305delA ENST00000366690.4 + 2 312 c.104delA c.(103-105)gafs p.E35fs RAB4A_ENST00000473894.1_Intron NM_004578.2 NP_004569.2 P20338 RAB4A_HUMAN RAB4A, member RAS oncogene family 30 GDP binding|GTP binding|GTPase activity central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(1) 11 Breast(184;0.0858)|Ovarian(103;0.103) Prostate(94;0.178) CAGTTTATTGAAAAAAAATGT 0.323 8 260 --- --- --- --- MTR 4548 broad.mit.edu 37 1 237024474 237024474 + Frame_Shift_Del DEL A A - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr1:237024474delA ENST00000366577.5 + 20 2487 c.2093delA c.(2092-2094)cafs p.Q698fs MTR_ENST00000535889.1_Intron NM_000254.2 NP_000245.2 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase 698 B12-binding N-terminal. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 67 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) AGGTTAAACCAAAAAAAATAT 0.308 11 560 --- --- --- --- OR2T33 391195 broad.mit.edu 37 1 248437112 248437112 + Frame_Shift_Del DEL T T - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr1:248437112delT ENST00000318021.2 - 1 26 c.5delA c.(4-6)ggfs p.E2fs NM_001004695.1 NP_001004695.1 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, member 33 2 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4) 67 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) ATTTCTCATCTCCATAATTTC 0.428 10 518 --- --- --- --- PXDN 7837 broad.mit.edu 37 2 1651971 1651971 + Frame_Shift_Del DEL T T - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr2:1651971delT ENST00000252804.4 - 17 3631 c.3581delA c.(3580-3582)acfs p.N1194fs NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) 1194 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) GATCTCAGGGTTTTTAATCTC 0.552 7 1055 --- --- --- --- APOB 338 broad.mit.edu 37 2 21228307 21228307 + Frame_Shift_Del DEL A A - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr2:21228307delA ENST00000233242.1 - 26 11560 c.11433delT c.(11431-11433)ttfs p.F3811fs NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 3811 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CGGTTATCTCAAAAAAGGGAA 0.428 7 891 --- --- --- --- FAM98A 25940 broad.mit.edu 37 2 33813402 33813402 + Splice_Site DEL T T - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr2:33813402delT ENST00000403368.1 - 4 591 c.522_splice c.e4+1 p.K174_splice FAM98A_ENST00000441530.2_Intron|FAM98A_ENST00000498340.1_Intron|FAM98A_ENST00000238823.8_Splice_Site_p.K174_splice NM_015475.3 NP_056290.3 Q8NCA5 FA98A_HUMAN family with sequence similarity 98, member A 175 NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1) 24 all_hematologic(175;0.115) AAGGTCTTACTTTTTTTTCAA 0.338 9 475 --- --- --- --- AC007092.1 0 broad.mit.edu 37 2 58688842 58688843 + RNA DEL CT CT - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr2:58688842_58688843delCT ENST00000452840.1 + 0 127 TCTCTGCTAGCTCTCTCTCTCT 0.465 7 161 --- --- --- --- ANKRD36BP2 0 broad.mit.edu 37 2 89082220 89082223 + RNA DEL TGAT TGAT - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr2:89082220_89082223delTGAT ENST00000393525.3 + 0 474 TGTGTACATATGATTGATTATGTA 0.328 8 139 --- --- --- --- ANKRD20A8P 0 broad.mit.edu 37 2 95519511 95519512 + RNA INS - - TACT TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr2:95519511_95519512insTACT ENST00000432432.2 - 0 316 NR_040113.1 TTCAAAACAAATAATTTTTTTG 0.307 9 107 --- --- --- --- GCC2 9648 broad.mit.edu 37 2 109087883 109087884 + Frame_Shift_Ins INS - - A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr2:109087883_109087884insA ENST00000309863.6 + 6 2812_2813 c.2098_2099insA c.(2098-2100)aaafs p.K700fs NM_181453.3 NP_852118.1 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain containing 2 700 Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 ACTCAGTTCAGAAAAAAAACAG 0.307 8 926 --- --- --- --- RGPD8 727851 broad.mit.edu 37 2 113181886 113181887 + Splice_Site INS - - A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr2:113181886_113181887insA ENST00000302558.3 - 2 264 c.e2-2 RGPD8_ENST00000409750.1_Splice_Site|RGPD8_ENST00000330575.5_Splice_Site NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 CATTGACTTCTAAAAAAAAATT 0.252 8 766 --- --- --- --- SCN9A 6335 broad.mit.edu 37 2 167055992 167055992 + Frame_Shift_Del DEL T T - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr2:167055992delT ENST00000375387.4 - 27 5500 c.5160delA c.(5158-5160)aafs p.K1720fs SCN9A_ENST00000303354.6_Frame_Shift_Del_p.K1720fs|SCN9A_ENST00000409435.1_Frame_Shift_Del_p.K1719fs|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Frame_Shift_Del_p.K1708fs Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 1719 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) CAGGATGAACTTTTTTTGGGT 0.423 8 1118 --- --- --- --- ANKRD44 91526 broad.mit.edu 37 2 197943383 197943384 + Frame_Shift_Del DEL TG TG - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr2:197943383_197943384delTG ENST00000409153.1 - 16 1875_1876 c.1693_1694delCA c.(1693-1695)tfs p.H565fs ANKRD44_ENST00000337207.5_Intron|ANKRD44_ENST00000282272.8_Intron|ANKRD44_ENST00000328737.2_Intron|ANKRD44_ENST00000450567.1_Intron|ANKRD44_ENST00000539527.1_Frame_Shift_Del_p.H493fs Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 811 protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.246) ATTTGGGGTATGTGTGTGTGTG 0.411 9 74 --- --- --- --- IKZF2 22807 broad.mit.edu 37 2 214012392 214012393 + Frame_Shift_Del DEL AC AC - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr2:214012392_214012393delAC ENST00000442445.1 - 3 253_254 c.196_197delGT c.(196-198)cfs p.V66fs IKZF2_ENST00000434687.1_Intron|IKZF2_ENST00000374319.4_Intron|IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000451136.2_Intron|IKZF2_ENST00000342002.2_Intron|IKZF2_ENST00000457361.1_Intron|IKZF2_ENST00000421754.2_Intron|IKZF2_ENST00000413091.3_Intron Q9UKS7 IKZF2_HUMAN IKAROS family zinc finger 2 (Helios) 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Esophageal squamous(248;0.0559)|Renal(323;0.218) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792) TGCTGGAGAGACACACACACAC 0.401 7 358 --- --- --- --- AAMP 14 broad.mit.edu 37 2 219134766 219134766 + Frame_Shift_Del DEL G G - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr2:219134766delG ENST00000248450.4 - 1 214 c.44delC c.(43-45)cafs p.P15fs AAMP_ENST00000444053.1_Frame_Shift_Del_p.P15fs Q13685 AAMP_HUMAN angio-associated, migratory cell protein 15 angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration cell surface|cytoplasm|plasma membrane heparin binding p.L16fs*9(1) haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1) 11 Renal(207;0.0474) Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGTCTCCAGTGGGGGGGTGTC 0.617 8 1534 --- --- --- --- USP4 7375 broad.mit.edu 37 3 49321969 49321971 + In_Frame_Del DEL TCT TCT - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr3:49321969_49321971delTCT ENST00000351842.4 - 17 2185_2187 c.2177_2179delAGA c.(2176-2181)acc>a p.KT726del USP4_ENST00000265560.4_In_Frame_Del_p.KT773del NM_199443.2 NP_955475.1 Q13107 UBP4_HUMAN ubiquitin specific peptidase 4 (proto-oncogene) 773 negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process lysosome|nucleus adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121) OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05) GCCACTGTGGTCTTCTTCTTCTT 0.532 12 631 --- --- --- --- RP11-649A16.1 0 broad.mit.edu 37 3 146995077 146995077 + RNA DEL A A - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr3:146995077delA ENST00000473299.1 - 0 132 TCTGGACTGtaaaaaaaaaaa 0.294 7 35 --- --- --- --- SEC62 7095 broad.mit.edu 37 3 169700663 169700664 + Frame_Shift_Ins INS - - A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr3:169700663_169700664insA ENST00000337002.4 + 4 478_479 c.420_421insA c.(418-423)gaaaaafs p.EK140fs SEC62_ENST00000480708.1_Frame_Shift_Ins_p.EK140fs|SEC62-AS1_ENST00000479626.1_RNA NM_003262.3 NP_003253.1 Q99442 SEC62_HUMAN SEC62 homolog (S. cerevisiae) 140 cotranslational protein targeting to membrane|transmembrane transport aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum protein transporter activity|receptor activity NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1) 9 aagaaaaagagaaaaaaaaaga 0.277 7 171 --- --- --- --- OTOP1 133060 broad.mit.edu 37 4 4204225 4204229 + Frame_Shift_Del DEL TTGAG TTGAG - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr4:4204225_4204229delTTGAG ENST00000296358.4 - 4 700_704 c.676_680delCTCAA c.(676-681)tfs p.LN226fs NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 226 biomineral tissue development extracellular space|integral to membrane p.L226fs*1(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CTTGTGCTCATTGAGTTGGTGCTTT 0.502 9 485 --- --- --- --- GABRG1 2565 broad.mit.edu 37 4 46060358 46060358 + Frame_Shift_Del DEL A A - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr4:46060358delA ENST00000295452.4 - 7 959 c.792delT c.(790-792)ttfs p.F264fs NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 264 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity p.F264fs*3(1) breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) TGCTCAGGTCAAAAAAAATTG 0.294 7 292 --- --- --- --- PCDH10 57575 broad.mit.edu 37 4 134073569 134073571 + In_Frame_Del DEL CTG CTG - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr4:134073569_134073571delCTG ENST00000264360.4 + 1 3100_3102 c.2274_2276delCTG c.(2272-2277)ctc>ct p.LC758del NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 758 Cys-rich. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) ATTGCTGCCTCTGCTGCTGCTGC 0.581 7 233 --- --- --- --- TCERG1 10915 broad.mit.edu 37 5 145886722 145886723 + Frame_Shift_Ins INS - - A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr5:145886722_145886723insA ENST00000296702.5 + 19 2900_2901 c.2862_2863insA c.(2860-2865)acaaaafs p.TK954fs TCERG1_ENST00000394421.2_Frame_Shift_Ins_p.TK933fs NM_006706.3 NP_006697.2 O14776 TCRG1_HUMAN transcription elongation regulator 1 954 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1) 46 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AAGCACTTACCAAAAAAAAGAG 0.376 8 653 --- --- --- --- TNXB 7148 broad.mit.edu 37 6 32063513 32063514 + Frame_Shift_Del DEL AC AC - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr6:32063513_32063514delAC ENST00000375244.3 - 3 2317_2318 c.2116_2117delGT c.(2116-2118)afs p.V706fs TNXB_ENST00000375247.2_Frame_Shift_Del_p.V706fs|TNXB_ENST00000479795.1_Frame_Shift_Del_p.V706fs P22105 TENX_HUMAN tenascin XB 706 EGF-like 18. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GAAGCCCTCTACACACACACAC 0.668 7 218 --- --- --- --- C6orf165 154313 broad.mit.edu 37 6 88144700 88144700 + Frame_Shift_Del DEL A A - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr6:88144700delA ENST00000507897.1 + 11 1506 c.1423delA c.(1423-1425)aafs p.K476fs C6ORF165_ENST00000369562.4_Frame_Shift_Del_p.K476fs Q8IYR0 CF165_HUMAN chromosome 6 open reading frame 165 476 NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) AGAAAAGGCCAAAAAAAATAC 0.269 8 529 --- --- --- --- REV3L 5980 broad.mit.edu 37 6 111709251 111709251 + Frame_Shift_Del DEL T T - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr6:111709251delT ENST00000435970.1 - 10 1482 c.666delA c.(664-666)aafs p.K222fs REV3L_ENST00000368802.3_Frame_Shift_Del_p.K300fs|REV3L_ENST00000358835.3_Frame_Shift_Del_p.K300fs|REV3L_ENST00000368805.1_Frame_Shift_Del_p.K300fs O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 300 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) TCTTCTGAAATTTTTTTTCAC 0.284 DNA polymerases (catalytic subunits) 7 477 --- --- --- --- AHI1 54806 broad.mit.edu 37 6 135784283 135784284 + Frame_Shift_Ins INS - - T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr6:135784283_135784284insT ENST00000367800.4 - 6 1126_1127 c.910_911insA c.(910-912)aaafs p.K304fs AHI1_ENST00000457866.2_Frame_Shift_Ins_p.K304fs|AHI1_ENST00000327035.6_Frame_Shift_Ins_p.K304fs NM_001134830.1 NP_001128302.1 Q8N157 AHI1_HUMAN Abelson helper integration site 1 304 adherens junction|cilium|microtubule basal body NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1) 37 Breast(56;0.239)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991) CTTCTTTTTTGTTTTTTTTGGT 0.307 7 391 --- --- --- --- GRM1 2911 broad.mit.edu 37 6 146350671 146350672 + Frame_Shift_Ins INS - - T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr6:146350671_146350672insT ENST00000392299.2 + 2 488_489 c.18_19insT c.(16-21)ttttttfs p.FF6fs GRM1_ENST00000361719.2_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000355289.4_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000282753.1_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000507907.1_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000492807.2_Frame_Shift_Ins_p.FF6fs Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 6 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) GGCTCCTTTTGTTTTTTTTCCC 0.644 8 655 --- --- --- --- MPP6 51678 broad.mit.edu 37 7 24705665 24705666 + Frame_Shift_Ins INS - - A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr7:24705665_24705666insA ENST00000396475.2 + 9 1208_1209 c.909_910insA c.(907-912)agaaaafs p.RK303fs MPP6_ENST00000222644.4_Frame_Shift_Ins_p.RK303fs|MPP6_ENST00000409761.1_Frame_Shift_Ins_p.RK191fs NM_016447.2 NP_057531.2 Q9NZW5 MPP6_HUMAN membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) 303 protein complex assembly protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2) 20 CTATAAGTAGCAAAAAAAAGAA 0.302 7 865 --- --- --- --- HOXA1 3198 broad.mit.edu 37 7 27135314 27135316 + In_Frame_Del DEL CGA CGA - rs10951154 byFrequency TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr7:27135314_27135316delCGA ENST00000343060.4 - 1 277_279 c.216_218delTCG c.(214-219)cac>ca p.HR72del HOXA1_ENST00000355633.5_In_Frame_Del_p.HR72del|HOTAIRM1_ENST00000495032.1_RNA NM_005522.4 NP_005513.1 P49639 HXA1_HUMAN homeobox A1 72 Poly-His. nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Ctgggggtggcgatggtggtggt 0.650 OREG0003750 type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 10 307 --- --- --- --- WASL 8976 broad.mit.edu 37 7 123332873 123332875 + In_Frame_Del DEL GGA GGA - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr7:123332873_123332875delGGA ENST00000223023.4 - 9 1205_1207 c.873_875delTCC c.(871-876)ccc>cc p.PP293del NM_003941.2 NP_003932.3 O00401 WASL_HUMAN Wiskott-Aldrich syndrome-like 293 Pro-rich. actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|cytosol|nucleolus|plasma membrane actin binding|small GTPase regulator activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 gtgtggagggggaggaggaggag 0.567 9 362 --- --- --- --- TRBV7-4 0 broad.mit.edu 37 7 142176678 142176679 + RNA DEL CA CA - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr7:142176678_142176679delCA ENST00000390369.2 - 0 49 GTAGTCATCGCACACACACACA 0.460 13 304 --- --- --- --- DLC1 10395 broad.mit.edu 37 8 12957611 12957613 + In_Frame_Del DEL GCT GCT - rs137989738 TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr8:12957611_12957613delGCT ENST00000276297.4 - 9 2642_2644 c.2233_2235delAGC c.(2233-2235)del p.S745del DLC1_ENST00000358919.2_In_Frame_Del_p.S308del|DLC1_ENST00000512044.2_In_Frame_Del_p.S342del|DLC1_ENST00000520226.1_In_Frame_Del_p.S234del NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 745 Poly-Ser. actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 TCTCCGACTGGCTGCTGCTGCTG 0.621 8 304 --- --- --- --- RLN2 6019 broad.mit.edu 37 9 5304560 5304561 + Frame_Shift_Ins INS - - A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr9:5304560_5304561insA ENST00000381627.3 - 1 408_409 c.20_21insT c.(19-21)tcafs p.S7fs RLN2_ENST00000308420.3_Frame_Shift_Ins_p.S7fs NM_134441.2 NP_604390.1 P04090 REL2_HUMAN relaxin 2 7 female pregnancy extracellular region hormone activity endometrium(2)|kidney(1)|large_intestine(2)|lung(6) 11 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987) CTAGCAGGTGGAAAAAAAACAG 0.535 7 343 --- --- --- --- NOL6 65083 broad.mit.edu 37 9 33463120 33463120 + Frame_Shift_Del DEL C C - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr9:33463120delC ENST00000455041.2 - 24 3105 c.3046delG c.(3046-3048)atfs p.D1016fs NOL6_ENST00000379471.2_Intron|NOL6_ENST00000464829.1_Intron Q9H6R4 NOL6_HUMAN nucleolar protein 6 (RNA-associated) 1068 rRNA processing condensed nuclear chromosome|nucleolus RNA binding endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2) 27 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.152) AGGGCCAGATCCCCAAAGGCC 0.557 14 91 --- --- --- --- FOXE1 2304 broad.mit.edu 37 9 100616701 100616706 + In_Frame_Del DEL GCCGCC GCCGCC - rs11279082 TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr9:100616701_100616706delGCCGCC ENST00000375123.3 + 1 1166_1171 c.505_510delGCCGCC c.(505-510)del p.AA177del NM_004473.3 NP_004464.2 O00358 FOXE1_HUMAN forkhead box E1 (thyroid transcription factor 2) 177 Ala-rich.|Poly-Ala. cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1) 5 Acute lymphoblastic leukemia(62;0.158) Ggctgccgcagccgccgccgccgccg 0.767 10 57 --- --- --- --- PRTFDC1 56952 broad.mit.edu 37 10 25226219 25226219 + Frame_Shift_Del DEL C C - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr10:25226219delC ENST00000320152.6 - 3 261 c.233delG c.(232-234)gtfs p.G78fs PRTFDC1_ENST00000376378.1_Frame_Shift_Del_p.G78fs|PRTFDC1_ENST00000376376.3_Frame_Shift_Del_p.G78fs NM_020200.5 NP_064585.1 Q9NRG1 PRDC1_HUMAN phosphoribosyl transferase domain containing 1 78 adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP salvage|grooming behavior|hypoxanthine metabolic process|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development cytosol hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 9 GAATTTGTAACCTCCTTTAAG 0.378 86 232 --- --- --- --- SYT15 83849 broad.mit.edu 37 10 46969401 46969403 + In_Frame_Del DEL CAG CAG - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr10:46969401_46969403delCAG ENST00000374325.3 - 2 210_212 c.58_60delCTG c.(58-60)del p.L21del SYT15_ENST00000374321.4_In_Frame_Del_p.L21del|SYT15_ENST00000503753.1_In_Frame_Del_p.L21del|SYT15_ENST00000374323.3_Intron NM_181519.2 NP_852660.1 Q9BQS2 SYT15_HUMAN synaptotagmin XV 21 integral to membrane|plasma membrane cervix(1)|endometrium(5)|kidney(2)|lung(5) 13 CCCCGATCAACAGCAGCAGCAGC 0.631 10 339 --- --- --- --- A1CF 29974 broad.mit.edu 37 10 52569667 52569669 + In_Frame_Del DEL AGC AGC - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr10:52569667_52569669delAGC ENST00000395489.2 - 14 1993_1995 c.1597_1599delGCT c.(1597-1599)del p.A533del ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000282641.2_In_Frame_Del_p.A540del|A1CF_ENST00000373997.3_In_Frame_Del_p.A532del|A1CF_ENST00000373995.3_In_Frame_Del_p.A540del|A1CF_ENST00000373993.1_In_Frame_Del_p.A540del|A1CF_ENST00000374001.1_In_Frame_Del_p.A532del|A1CF_ENST00000395495.1_In_Frame_Del_p.A485del NM_001198819.1 NP_001185748.1 Q9NQ94 A1CF_HUMAN APOBEC1 complementation factor 540 cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3) 29 GGAAagcagtagcagcagcagca 0.512 7 392 --- --- --- --- LZTS2 84445 broad.mit.edu 37 10 102763415 102763417 + In_Frame_Del DEL CCT CCT - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr10:102763415_102763417delCCT ENST00000370220.1 + 2 3623_3625 c.560_562delCCT c.(559-564)gcc>g p.AS187del LZTS2_ENST00000370223.3_In_Frame_Del_p.AS187del Q9BRK4 LZTS2_HUMAN leucine zipper, putative tumor suppressor 2 187 Required for centrosomal localization (By similarity). cell division|mitosis|Wnt receptor signaling pathway membrane|microtubule|microtubule organizing center breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 Epithelial(162;7.3e-09)|all cancers(201;3.72e-07) GGGGGCCCTGcctcctcctcctc 0.650 13 676 --- --- --- --- MUC6 4588 broad.mit.edu 37 11 1025891 1025892 + Frame_Shift_Ins INS - - T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr11:1025891_1025892insT ENST00000421673.2 - 22 2762_2763 c.2712_2713insA c.(2710-2715)tcagccfs p.A905fs NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 905 VWFD 3. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) AAGGTGGGCTGTGAGTCGTTGA 0.658 17 101 --- --- --- --- NUP98 4928 broad.mit.edu 37 11 3720389 3720389 + Frame_Shift_Del DEL T T - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr11:3720389delT ENST00000324932.7 - 25 4352 c.3932delA c.(3931-3933)acfs p.N1311fs NUP98_ENST00000359171.4_Frame_Shift_Del_p.N1311fs|NUP98_ENST00000355260.3_Frame_Shift_Del_p.N1311fs NM_016320.4|NM_139132.3 NP_057404.2|NP_624358.2 P52948 NUP98_HUMAN nucleoporin 98kDa 1328 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) CACAGGGCTGTTTTTTTGGGT 0.512 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 9 1114 --- --- --- --- NOX4 50507 broad.mit.edu 37 11 89106662 89106663 + Splice_Site INS - - A rs56022003 TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr11:89106662_89106663insA ENST00000535633.1 - 12 1313 c.e12-2 NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000263317.4_Splice_Site|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000375979.3_Splice_Site|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000424319.1_Splice_Site NM_001143836.1|NM_016931.3 NP_001137308.1|NP_058627.1 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity p.?(1) NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2) 44 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) AGTTGGACACTAAAAAAAAATA 0.292 12 733 --- --- --- --- DDX10 1662 broad.mit.edu 37 11 108788635 108788637 + In_Frame_Del DEL TGA TGA - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr11:108788635_108788637delTGA ENST00000526794.1 + 17 2372_2374 c.2340_2342delTGA c.(2338-2343)agt>ag p.SD780del DDX10_ENST00000322536.3_In_Frame_Del_p.SD780del Q13206 DDX10_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 780 ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2) 27 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) TGGATTGGAGtgatgatgatgat 0.355 T NUP98 AML* 7 353 --- --- --- --- BCL9L 283149 broad.mit.edu 37 11 118772974 118772974 + Frame_Shift_Del DEL G G - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr11:118772974delG ENST00000334801.3 - 6 2442 c.1478delC c.(1477-1479)cgfs p.P493fs BCL9L_ENST00000526143.1_5'UTR NM_182557.2 NP_872363.1 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 493 Necessary for interaction with CTNNB1 (By similarity).|Pro-rich. 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) GTCCCCACCCGGGGGGTGCCC 0.622 7 703 --- --- --- --- OR8D4 338662 broad.mit.edu 37 11 123777441 123777442 + Frame_Shift_Ins INS - - T rs79561639 byFrequency TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr11:123777441_123777442insT ENST00000321355.2 + 1 333_334 c.303_304insT c.(301-306)ctttttfs p.LF101fs NM_001005197.1 NP_001005197.1 Q8NGM9 OR8D4_HUMAN olfactory receptor, family 8, subfamily D, member 4 101 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) TGATTCAGCTGTTTTTTTTCTG 0.436 11 867 --- --- --- --- PRB2 653247 broad.mit.edu 37 12 11546506 11546508 + In_Frame_Del DEL TTG TTG - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr12:11546506_11546508delTTG ENST00000389362.4 - 3 539_541 c.504_506delCAA c.(502-507)aag>aa p.NK168del PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) ACTTCGGGACTTGTTGTCTCCTT 0.596 10 1271 --- --- --- --- KIF21A 55605 broad.mit.edu 37 12 39713783 39713784 + Frame_Shift_Ins INS - - T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr12:39713783_39713784insT ENST00000395670.3 - 27 4122_4123 c.3703_3704insA c.(3703-3705)tccfs p.S1235fs KIF21A_ENST00000541463.2_Frame_Shift_Ins_p.S1199fs|KIF21A_ENST00000361961.3_Frame_Shift_Ins_p.S1222fs|KIF21A_ENST00000544797.2_Frame_Shift_Ins_p.S1215fs|KIF21A_ENST00000361418.5_Frame_Shift_Ins_p.S1235fs|KIF21A_ENST00000547745.1_5'UTR Q7Z4S6 KI21A_HUMAN kinesin family member 21A 1235 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) AGGCTCTGGAATTTTTTTTTCT 0.342 8 589 --- --- --- --- SCAF11 9169 broad.mit.edu 37 12 46320707 46320708 + Frame_Shift_Del DEL TC TC - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr12:46320707_46320708delTC ENST00000465950.1 - 1 3040_3041 c.1831_1832delGA c.(1831-1833)afs p.E611fs SCAF11_ENST00000419565.2_Frame_Shift_Del_p.E926fs|SCAF11_ENST00000369367.3_Frame_Shift_Del_p.E926fs|SCAF11_ENST00000549162.1_Frame_Shift_Del_p.E734fs Q99590 SCAFB_HUMAN SR-related CTD-associated factor 11 926 spliceosome assembly nucleus protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 69 GGTTCTCCTTTCTCTCTCTCTC 0.446 10 910 --- --- --- --- MBD6 0 broad.mit.edu 37 12 57919302 57919302 + Frame_Shift_Del DEL T T - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr12:57919302delT ENST00000355673.3 + 6 907 c.551delT c.(550-552)ctfs p.L184fs MBD6_ENST00000431731.2_Frame_Shift_Del_p.L184fs NM_052897.3 NP_443129.3 Q96DN6 MBD6_HUMAN methyl-CpG binding domain protein 6 184 Pro-rich. chromosome|nucleus chromatin binding|DNA binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1) 31 CCTGGGGGGCTTTTCCCCCCA 0.637 7 614 --- --- --- --- EBPL 84650 broad.mit.edu 37 13 50235208 50235209 + Frame_Shift_Ins INS - - A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr13:50235208_50235209insA ENST00000242827.6 - 4 566_567 c.516_517insT c.(514-519)ttacggfs p.LR172fs EBPL_ENST00000378284.2_3'UTR|EBPL_ENST00000378270.5_Stop_Codon_Ins|EBPL_ENST00000378272.5_3'UTR|EBPL_ENST00000495963.2_5'UTR NM_032565.3 NP_115954.1 Q9BY08 EBPL_HUMAN emopamil binding protein-like 172 sterol metabolic process endoplasmic reticulum membrane|integral to membrane cholestenol delta-isomerase activity p.F172fs*7(1) endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;2.06e-09) CACACACCGTTAAAAAAAAACA 0.480 8 261 --- --- --- --- APEX1 328 broad.mit.edu 37 14 20923820 20923820 + Frame_Shift_Del DEL A A - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr14:20923820delA ENST00000216714.3 + 2 284 c.16delA c.(16-18)aafs p.K7fs APEX1_ENST00000557054.1_Frame_Shift_Del_p.K7fs|APEX1_ENST00000555414.1_Frame_Shift_Del_p.K7fs|APEX1_ENST00000398030.4_Frame_Shift_Del_p.K7fs|APEX1_ENST00000557365.1_Intron NM_001244249.1|NM_001641.3 NP_001231178.1|NP_001632.2 P27695 APEX1_HUMAN APEX nuclease (multifunctional DNA repair enzyme) 1 7 Necessary for interaction with YBX1, binding to RNA, NPM1-dependent association with rRNA, endoribonuclease activity on abasic RNA and localization in the nucleoli. base-excision repair|DNA demethylation|DNA recombination|positive regulation of anti-apoptosis|positive regulation of DNA repair|regulation of mRNA stability|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|endoplasmic reticulum|mitochondrion|nuclear speck|nucleolus|perinuclear region of cytoplasm|ribosome 3'-5' exonuclease activity|chromatin DNA binding|damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|metal ion binding|oxidoreductase activity|phosphodiesterase I activity|protein binding|ribonuclease H activity|RNA binding|site-specific endodeoxyribonuclease activity, specific for altered base|transcription coactivator activity|transcription corepressor activity|uracil DNA N-glycosylase activity breast(2)|endometrium(1)|large_intestine(4)|ovary(2) 9 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;1.09e-07)|all cancers(55;1.19e-06) GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193) Lucanthone(DB04967) GAAGCGTGGGAAAAAGGGAGC 0.557 Other BER factors 7 775 --- --- --- --- KCNH5 27133 broad.mit.edu 37 14 63174626 63174626 + Frame_Shift_Del DEL T T - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr14:63174626delT ENST00000322893.7 - 11 2835 c.2567delA c.(2566-2568)acfs p.N856fs KCNH5_ENST00000420622.2_3'UTR NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 856 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) TCTTAGTGGGTTTTTGGTCAC 0.463 8 709 --- --- --- --- VRTN 55237 broad.mit.edu 37 14 74824463 74824463 + Frame_Shift_Del DEL G G - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr14:74824463delG ENST00000256362.4 + 2 1218 c.977delG c.(976-978)cgfs p.R326fs NM_018228.2 NP_060698.2 Q9H8Y1 VRTN_HUMAN vertebrae development associated 326 transposition, DNA-mediated DNA binding|transposase activity p.V329fs*25(1) NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1) 41 AGCTTCCACCGGGGGGGCGTC 0.642 8 551 --- --- --- --- MLH3 27030 broad.mit.edu 37 14 75514603 75514604 + Frame_Shift_Ins INS - - T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr14:75514603_75514604insT ENST00000355774.2 - 2 1970_1971 c.1755_1756insA c.(1753-1758)aaaatcfs p.I586fs MLH3_ENST00000556257.1_Frame_Shift_Ins_p.I586fs|MLH3_ENST00000238662.7_Frame_Shift_Ins_p.I586fs|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000556740.1_Frame_Shift_Ins_p.I586fs NM_001040108.1 NP_001035197.1 Q9UHC1 MLH3_HUMAN mutL homolog 3 586 mismatch repair|reciprocal meiotic recombination chiasma|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding p.A577_S588delAQTEKEKKKESS(2)|p.E586*(1) breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 44 BRCA - Breast invasive adenocarcinoma(234;0.00688) TTGCTAGATTCTTTTTTTTTCT 0.356 Mismatch excision repair (MMR) 11 633 --- --- --- --- IGHV3-23 0 broad.mit.edu 37 14 106725714 106725715 + RNA INS - - G TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr14:106725714_106725715insG ENST00000390609.2 - 0 18_19 ATCCCAGGGCTGGGCTCCTCTC 0.500 11 324 --- --- --- --- IGHV3-48 0 broad.mit.edu 37 14 106993939 106993941 + RNA DEL TAC TAC - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr14:106993939_106993941delTAC ENST00000390624.2 - 0 302_304 TAGTATATGGTACTACTACTACT 0.502 13 1418 --- --- --- --- HERC2P2 0 broad.mit.edu 37 15 23283336 23283337 + RNA INS - - T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr15:23283336_23283337insT ENST00000560464.1 - 0 5097 CTTCCCAATGAGAATCTCTGAA 0.426 11 153 --- --- --- --- FAN1 22909 broad.mit.edu 37 15 31196894 31196894 + Frame_Shift_Del DEL A A - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr15:31196894delA ENST00000362065.4 + 2 319 c.28delA c.(28-30)aafs p.K11fs FAN1_ENST00000561607.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000565466.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000561594.1_Frame_Shift_Del_p.K11fs NM_014967.4 NP_055782.3 Q9Y2M0 FAN1_HUMAN FANCD2/FANCI-associated nuclease 1 11 double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision nucleus 5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1) 29 ACCTCCTGACAAAAAAAGGCC 0.353 Direct reversal of damage 7 672 --- --- --- --- EMC7 56851 broad.mit.edu 37 15 34393991 34393993 + In_Frame_Del DEL AGC AGC - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr15:34393991_34393993delAGC ENST00000256545.4 - 1 156_158 c.48_50delGCT c.(46-51)cta>ct p.LL16del EMC7_ENST00000532113.1_5'UTR NM_020154.2 NP_064539.1 ER membrane protein complex subunit 7 ATCCCCCGATAGCAGCAGCAGCA 0.665 9 684 --- --- --- --- RAB40C 57799 broad.mit.edu 37 16 677579 677580 + Frame_Shift_Ins INS - - C TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr16:677579_677580insC ENST00000535977.1 + 7 1025_1026 c.803_804insC c.(802-804)accfs p.T268fs RAB40C_ENST00000248139.3_Frame_Shift_Ins_p.T268fs|RAB40C_ENST00000539661.1_Frame_Shift_Ins_p.T268fs|RAB40C_ENST00000538492.1_Frame_Shift_Ins_p.T268fs NM_001172663.1 NP_001166134.1 Q96S21 RB40C_HUMAN RAB40C, member RAS oncogene family 268 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding p.Q271fs*7(1) NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1) 6 Hepatocellular(780;0.0218) CCACCCCAGAGCCCCCCCCAGA 0.678 10 338 --- --- --- --- SLC5A11 115584 broad.mit.edu 37 16 24921737 24921739 + In_Frame_Del DEL CAG CAG - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr16:24921737_24921739delCAG ENST00000347898.3 + 15 2383_2385 c.1761_1763delCAG c.(1759-1764)gcc>gc p.AS587del SLC5A11_ENST00000569071.1_In_Frame_Del_p.AS431del|SLC5A11_ENST00000424767.2_In_Frame_Del_p.AS552del|SLC5A11_ENST00000539472.1_In_Frame_Del_p.AS523del|SLC5A11_ENST00000565769.1_In_Frame_Del_p.AS523del|SLC5A11_ENST00000449109.2_In_Frame_Del_p.AS431del|SLC5A11_ENST00000567758.1_In_Frame_Del_p.AS552del|SLC5A11_ENST00000545376.1_In_Frame_Del_p.AS517del|SLC5A11_ENST00000568579.1_In_Frame_Del_p.AS517del NM_052944.3 NP_443176.2 Q8WWX8 SC5AB_HUMAN solute carrier family 5 (sodium/inositol cotransporter), member 11 587 apoptosis|carbohydrate transport|sodium ion transport integral to membrane|plasma membrane polyol transmembrane transporter activity|symporter activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1) 49 GBM - Glioblastoma multiforme(48;0.0365) TGCCAGAGGCCAGCAGCAGCAGC 0.542 10 295 --- --- --- --- COQ9 57017 broad.mit.edu 37 16 57486732 57486734 + In_Frame_Del DEL GAG GAG - rs149029279 TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr16:57486732_57486734delGAG ENST00000262507.6 + 3 331_333 c.262_264delGAG c.(262-264)del p.E91del COQ9_ENST00000567072.1_In_Frame_Del_p.E91del|COQ9_ENST00000567933.1_In_Frame_Del_p.E91del|COQ9_ENST00000567384.1_3'UTR NM_020312.3 NP_064708.1 O75208 COQ9_HUMAN coenzyme Q9 91 ubiquinone biosynthetic process mitochondrion breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1) 16 CCAGGGCGGCGAGGAGGAGGAGG 0.576 8 564 --- --- --- --- EDC4 23644 broad.mit.edu 37 16 67913767 67913769 + In_Frame_Del DEL CAG CAG - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr16:67913767_67913769delCAG ENST00000358933.5 + 16 2075_2077 c.1836_1838delCAG c.(1834-1839)ccc>cc p.PS612del NM_014329.4 NP_055144.3 Q6P2E9 EDC4_HUMAN enhancer of mRNA decapping 4 612 Ser-rich. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) CTGCCTCTCCcagcagcagcagc 0.611 7 302 --- --- --- --- NOB1 28987 broad.mit.edu 37 16 69782978 69782980 + In_Frame_Del DEL TCC TCC - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr16:69782978_69782980delTCC ENST00000268802.5 - 6 596_598 c.567_569delGGA c.(565-570)gaa>ga p.EE189del NM_014062.1 NP_054781.1 Q9ULX3 NOB1_HUMAN NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) 189 Poly-Glu. nucleus metal ion binding|protein binding breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 CCCGTTTTCTTCCTCCTCCTCCT 0.522 14 318 --- --- --- --- MYH10 4628 broad.mit.edu 37 17 8415820 8415822 + In_Frame_Del DEL TTC TTC - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr17:8415820_8415822delTTC ENST00000360416.3 - 24 3037_3039 c.2899_2901delGAA c.(2899-2901)del p.E967del MYH10_ENST00000379980.4_In_Frame_Del_p.E952del|MYH10_ENST00000396239.1_In_Frame_Del_p.E957del|MYH10_ENST00000269243.4_In_Frame_Del_p.E936del NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 936 actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 TTTGGTTTCTTTCTTCTTCTTCT 0.350 11 547 --- --- --- --- RAI1 10743 broad.mit.edu 37 17 17699993 17699995 + In_Frame_Del DEL GCA GCA - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr17:17699993_17699995delGCA ENST00000353383.1 + 3 4200_4202 c.3731_3733delGCA c.(3730-3735)cgc>c p.RS1244del RAI1_ENST00000261641.6_In_Frame_Del_p.RS1244del NM_030665.3 NP_109590.3 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 1244 Poly-Ser. cytoplasm|nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7) 48 READ - Rectum adenocarcinoma(1115;0.0276) TTGCGGAGCCGCAGCAGCAGCAG 0.626 8 185 --- --- --- --- TOB1 10140 broad.mit.edu 37 17 48940610 48940612 + In_Frame_Del DEL GTG GTG - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr17:48940610_48940612delGTG ENST00000499247.2 - 2 1200_1202 c.767_769delCAC c.(766-771)cag>c p.PQ256del TOB1_ENST00000268957.3_In_Frame_Del_p.PQ256del NM_001243885.1|NM_005749.3 NP_001230814.1|NP_005740.1 P50616 TOB1_HUMAN transducer of ERBB2, 1 256 Poly-Pro. negative regulation of cell proliferation SH3/SH2 adaptor activity breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) tgttgctgctgtggtggtggtgg 0.517 8 194 --- --- --- --- FHOD3 80206 broad.mit.edu 37 18 34261459 34261460 + Frame_Shift_Del DEL AG AG - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr18:34261459_34261460delAG ENST00000257209.4 + 12 1493_1494 c.1371_1372delAG c.(1369-1374)gcagfs p.AE457fs FHOD3_ENST00000590592.1_Frame_Shift_Del_p.AE632fs|FHOD3_ENST00000445677.1_Frame_Shift_Del_p.AE419fs|FHOD3_ENST00000359247.4_Frame_Shift_Del_p.AE457fs|FHOD3_ENST00000591635.1_Intron NM_025135.2 NP_079411.2 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 457 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) CACTGGCAGCAGAGAGAGAGAG 0.460 9 253 --- --- --- --- STK11 6794 broad.mit.edu 37 19 1207092 1207092 + Frame_Shift_Del DEL C C - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr19:1207092delC ENST00000326873.7 + 1 1353 c.180delC c.(178-180)tafs p.Y60fs STK11_ENST00000585748.1_Intron NM_000455.4 NP_000446.1 Q15831 STK11_HUMAN serine/threonine kinase 11 60 Protein kinase. anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(20)|p.?(3)|p.Y60fs*1(3)|p.Y60*(2) biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 328 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)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) AAGGCTCTTACGGCAAGGTGA 0.622 14 """D, Mis, N, F, S""" """NSCLC, pancreatic""" """jejunal harmartoma, ovarian, testicular, pancreatic""" Peutz-Jeghers syndrome TSP Lung(3;<1E-08) 65 105 --- --- --- --- KANK3 256949 broad.mit.edu 37 19 8398950 8398961 + In_Frame_Del DEL TCGCTGTCGCCA TCGCTGTCGCCA - rs111751275 TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr19:8398950_8398961delTCGCTGTCGCCA ENST00000330915.3 - 5 1532_1543 c.1467_1478delTGGCGACAGCGA c.(1465-1479)gag>ga p.DGDSE489del KANK3_ENST00000593649.1_In_Frame_Del_p.DGDSE489del NM_198471.2 NP_940873.2 Q6NY19 KANK3_HUMAN KN motif and ankyrin repeat domains 3 489 p.D489_S492delDGDS(2) breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 9 GCCACCGTTCTCGCTGTCGCCATCGCTGTCGC 0.717 7 13 --- --- --- --- LSM14A 26065 broad.mit.edu 37 19 34710340 34710340 + Frame_Shift_Del DEL C C - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr19:34710340delC ENST00000544216.3 + 7 903 c.826delC c.(826-828)ggfs p.R276fs LSM14A_ENST00000433627.5_Frame_Shift_Del_p.R276fs|LSM14A_ENST00000540746.2_Frame_Shift_Del_p.R235fs NM_015578.2 NP_056393.2 Q8ND56 LS14A_HUMAN LSM14A, SCD6 homolog A (S. cerevisiae) 276 cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1) 22 Esophageal squamous(110;0.162) TGGGGGTCATCGGGGTGGCAG 0.438 8 559 --- --- --- --- SLC8A2 6543 broad.mit.edu 37 19 47935681 47935683 + In_Frame_Del DEL TCC TCC - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr19:47935681_47935683delTCC ENST00000236877.6 - 9 2525_2527 c.2130_2132delGGA c.(2128-2133)gac>ga p.ED710del SLC8A2_ENST00000542837.1_In_Frame_Del_p.ED466del|SLC8A2_ENST00000601757.1_5'UTR|SLC8A2_ENST00000539381.1_In_Frame_Del_p.ED173del NM_015063.2 NP_055878.1 Q9UPR5 NAC2_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 2 710 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1) 31 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) CCGGGACCCGTCCTCCTCCTCCT 0.616 15 326 --- --- --- --- FUZ 80199 broad.mit.edu 37 19 50310483 50310485 + In_Frame_Del DEL CAG CAG - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr19:50310483_50310485delCAG ENST00000313777.4 - 11 1343_1345 c.1180_1182delCTG c.(1180-1182)del p.L394del FUZ_ENST00000445575.2_Intron|FUZ_ENST00000533418.1_In_Frame_Del_p.L344del|FUZ_ENST00000528094.1_In_Frame_Del_p.L358del NM_025129.4 NP_079405.2 Q9BT04 FUZZY_HUMAN fuzzy planar cell polarity protein 394 Leu-rich. cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway cytoplasm|cytoskeleton endometrium(1)|lung(3) 4 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116) TCTGGGGAGACAGCAGCAGCAGC 0.635 7 182 --- --- --- --- SIGLEC9 27180 broad.mit.edu 37 19 51628233 51628235 + Translation_Start_Site DEL TGC TGC - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr19:51628233_51628235delTGC ENST00000440804.3 + 0 69_71 SIGLEC9_ENST00000250360.3_Start_Codon_Del NM_001198558.1 NP_001185487.1 Q9Y336 SIGL9_HUMAN sialic acid binding Ig-like lectin 9 cell adhesion|cell surface receptor linked signaling pathway integral to plasma membrane sugar binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 45 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295) ACCCCAGACATGCTGCTGCTGCT 0.611 9 178 --- --- --- --- RP4-777D9.2 0 broad.mit.edu 37 20 21146788 21146789 + RNA INS - - T rs34056823 TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr20:21146788_21146789insT ENST00000591761.1 - 0 5051 PLK1S1_ENST00000457464.1_RNA tgtattttGTATTTTTTTTTTT 0.401 7 52 --- --- --- --- ZNF337 26152 broad.mit.edu 37 20 25657231 25657232 + Frame_Shift_Del DEL TG TG - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr20:25657231_25657232delTG ENST00000376436.1 - 4 1231_1232 c.692_693delCA c.(691-693)afs p.T231fs RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000252979.5_Frame_Shift_Del_p.T231fs|ZNF337_ENST00000538750.1_Frame_Shift_Del_p.T199fs|RP4-694B14.5_ENST00000439498.1_RNA zinc finger protein 337 breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 ACTTCTCTCCTGTGTGTGTGTT 0.510 9 398 --- --- --- --- BCAS1 8537 broad.mit.edu 37 20 52611567 52611567 + Frame_Shift_Del DEL T T - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr20:52611567delT ENST00000395961.3 - 6 1077 c.911delA c.(910-912)agfs p.K304fs BCAS1_ENST00000371435.2_Frame_Shift_Del_p.K304fs|BCAS1_ENST00000434986.2_Frame_Shift_Del_p.K17fs|BCAS1_ENST00000371440.3_Frame_Shift_Del_p.K304fs NM_003657.2 NP_003648.2 O75363 BCAS1_HUMAN breast carcinoma amplified sequence 1 304 cytoplasm protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1) 37 Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05) STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198) TTCTGGGTCCTTTTTTGTTTC 0.338 7 799 --- --- --- --- TCP10L 140290 broad.mit.edu 37 21 33949091 33949091 + Frame_Shift_Del DEL C C - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr21:33949091delC ENST00000300258.3 - 5 754 c.641delG c.(640-642)gtfs p.G214fs TCP10L_ENST00000491828.1_5'UTR NM_144659.5 NP_653260.1 t-complex 10-like breast(1)|central_nervous_system(1)|liver(1)|skin(1) 4 TCTTCAGACACCCCCCCGTCT 0.478 7 546 --- --- --- --- IFNGR2 3460 broad.mit.edu 37 21 34799292 34799292 + Frame_Shift_Del DEL T T - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr21:34799292delT ENST00000290219.6 + 4 1162 c.514delT c.(514-516)ttfs p.F173fs IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs|IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs NM_005534.3 NP_005525.2 P38484 INGR2_HUMAN interferon gamma receptor 2 (interferon gamma transducer 1) 173 Fibronectin type-III 2. regulation of interferon-gamma-mediated signaling pathway|response to virus endoplasmic reticulum|integral to plasma membrane interferon-gamma receptor activity NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1) 13 Interferon gamma-1b(DB00033) CTCCACGGCCTTTTTTTGTTA 0.458 8 1371 --- --- --- --- ZNRF3 84133 broad.mit.edu 37 22 29445819 29445821 + In_Frame_Del DEL CAG CAG - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr22:29445819_29445821delCAG ENST00000544604.2 + 8 1825_1827 c.1650_1652delCAG c.(1648-1653)gac>ga p.DS550del ZNRF3_ENST00000332811.4_In_Frame_Del_p.DS450del|ZNRF3_ENST00000406323.3_In_Frame_Del_p.DS450del|ZNRF3_ENST00000402174.1_In_Frame_Del_p.DS450del NM_001206998.1 NP_001193927.1 Q9ULT6 ZNRF3_HUMAN zinc and ring finger 3 550 integral to membrane zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 28 CAGgcagcgacagcagcagcagc 0.660 7 188 --- --- --- --- BCOR 54880 broad.mit.edu 37 X 39933796 39933797 + Frame_Shift_Del DEL GA GA - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chrX:39933796_39933797delGA ENST00000342274.4 - 4 1164_1165 c.802_803delTC c.(802-804)gfs p.S268fs BCOR_ENST00000397354.3_Frame_Shift_Del_p.S268fs|BCOR_ENST00000378444.4_Frame_Shift_Del_p.S268fs|BCOR_ENST00000378455.4_Frame_Shift_Del_p.S268fs NM_001123383.1 NP_001116855.1 Q6W2J9 BCOR_HUMAN BCL6 corepressor 268 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 126 CGAAGGTGTCGAGAGCCTCATG 0.609 """F, N, S, T""" RARA """retinoblastoma, AML, APL(translocation)""" oculo-facio-cardio-dental genetic 17 40 --- --- --- --- TSIX 0 broad.mit.edu 37 X 73047124 73047125 + RNA DEL AC AC - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chrX:73047124_73047125delAC ENST00000604411.1 + 0 35085_35086 XIST_ENST00000429829.1_lincRNA NR_003255.2 GCCACACATGACACACACACAC 0.470 12 302 --- --- --- --- PAK3 5063 broad.mit.edu 37 X 110406206 110406208 + In_Frame_Del DEL GAA GAA - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chrX:110406206_110406208delGAA ENST00000519681.1 + 10 1037_1039 c.595_597delGAA c.(595-597)del p.E203del PAK3_ENST00000518291.1_In_Frame_Del_p.E218del|PAK3_ENST00000446737.1_In_Frame_Del_p.E182del|PAK3_ENST00000425146.1_In_Frame_Del_p.E182del|PAK3_ENST00000372007.4_In_Frame_Del_p.E182del|PAK3_ENST00000262836.4_In_Frame_Del_p.E197del|PAK3_ENST00000372010.1_In_Frame_Del_p.E197del|PAK3_ENST00000417227.1_In_Frame_Del_p.E203del|PAK3_ENST00000360648.4_In_Frame_Del_p.E218del O75914 PAK3_HUMAN p21 protein (Cdc42/Rac)-activated kinase 3 197 Linker. multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 agatgaagaggaagaagaagaag 0.394 TSP Lung(19;0.15) 14 352 --- --- --- --- SPANXN3 139067 broad.mit.edu 37 X 142605149 142605149 + Frame_Shift_Del DEL T T - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chrX:142605149delT ENST00000370503.2 - 1 154 c.71delA c.(70-72)atfs p.N24fs NM_001009609.2 NP_001009609.1 Q5MJ09 SPXN3_HUMAN SPANX family, member N3 24 endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1) 14 Acute lymphoblastic leukemia(192;6.56e-05) TACCTCATCATTTTTTTTGTT 0.453 7 388 --- --- --- --- ARHGAP4 393 broad.mit.edu 37 X 153173252 153173253 + Frame_Shift_Ins INS - - C TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chrX:153173252_153173253insC ENST00000370028.3 - 23 2948_2949 c.2891_2892insG c.(2890-2892)gccfs p.A964fs ARHGAP4_ENST00000393721.1_Frame_Shift_Ins_p.A746fs|ARHGAP4_ENST00000370016.1_Frame_Shift_Ins_p.A903fs|ARHGAP4_ENST00000537206.1_Frame_Shift_Ins_p.A901fs|ARHGAP4_ENST00000350060.5_Frame_Shift_Ins_p.A924fs NM_001164741.1 NP_001158213.1 P98171 RHG04_HUMAN Rho GTPase activating protein 4 924 apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction cytosol|focal adhesion|nucleus Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 14 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GGGCCCCAGGGCCCCGGGAGAA 0.713 7 128 --- --- --- ---