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 HHAT 55733 broad.mit.edu 37 1 210577932 210577932 + Missense_Mutation SNP C C T TCGA-VP-A87E-01A-31D-A34U-08 TCGA-VP-A87E-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eae221e0-1a67-4302-a04a-10195507d23b a73d17ac-6872-4b3d-a945-212f2a20d843 g.chr1:210577932C>T ENST00000367010.1 + 6 820 c.593C>T c.(592-594)tCc>tTc p.S198F HHAT_ENST00000391905.3_Missense_Mutation_p.S198F|HHAT_ENST00000261458.3_Missense_Mutation_p.S198F|HHAT_ENST00000545781.1_Missense_Mutation_p.S135F|HHAT_ENST00000537898.1_Missense_Mutation_p.S133F|HHAT_ENST00000545154.1_Missense_Mutation_p.S199F|HHAT_ENST00000308852.6_Missense_Mutation_p.S153F|HHAT_ENST00000541565.1_Intron|HHAT_ENST00000413764.2_Missense_Mutation_p.S198F NM_001170580.1 NP_001164051.1 Q5VTY9 HHAT_HUMAN hedgehog acyltransferase 198 multicellular organismal development endoplasmic reticulum membrane|integral to membrane GTP binding breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215) GCATCGACCTCCTACTCCTTT 0.547 16 92 --- --- --- --- NEB 4703 broad.mit.edu 37 2 152359340 152359340 + Silent SNP C C T TCGA-VP-A87E-01A-31D-A34U-08 TCGA-VP-A87E-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eae221e0-1a67-4302-a04a-10195507d23b a73d17ac-6872-4b3d-a945-212f2a20d843 g.chr2:152359340C>T ENST00000397345.3 - 167 24097 c.23895G>A c.(23893-23895)gaG>gaA p.E7965E NEB_ENST00000397336.2_Silent_p.E2E|NEB_ENST00000172853.10_Silent_p.E6264E|NEB_ENST00000498015.2_Intron|NEB_ENST00000603639.1_Silent_p.E7965E|NEB_ENST00000604864.1_Silent_p.E7965E|NEB_ENST00000409198.1_Silent_p.E6264E|NEB_ENST00000427231.2_Silent_p.E7965E|NEB_ENST00000509223.2_Intron NM_001164508.1 NP_001157980 P20929 NEBU_HUMAN nebulin 6264 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) GTTTGACTCTCTCCATCTCTG 0.353 3 31 --- --- --- --- LGSN 51557 broad.mit.edu 37 6 63990019 63990019 + Silent SNP G G A TCGA-VP-A87E-01A-31D-A34U-08 TCGA-VP-A87E-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eae221e0-1a67-4302-a04a-10195507d23b a73d17ac-6872-4b3d-a945-212f2a20d843 g.chr6:63990019G>A ENST00000370657.4 - 4 1470 c.1437C>T c.(1435-1437)acC>acT p.T479T LGSN_ENST00000370658.5_3'UTR Q5TDP6 LGSN_HUMAN lengsin, lens protein with glutamine synthetase domain 479 glutamine biosynthetic process glutamate-ammonia ligase activity NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 L-Glutamic Acid(DB00142) ATCGAATAAAGGTTTCTCCTA 0.368 5 110 --- --- --- --- GPNMB 10457 broad.mit.edu 37 7 23286530 23286530 + Silent SNP A A C TCGA-VP-A87E-01A-31D-A34U-08 TCGA-VP-A87E-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eae221e0-1a67-4302-a04a-10195507d23b a73d17ac-6872-4b3d-a945-212f2a20d843 g.chr7:23286530A>C ENST00000258733.4 + 1 349 c.54A>C c.(52-54)ccA>ccC p.P18P GPNMB_ENST00000539136.1_Silent_p.P18P|GPNMB_ENST00000381990.2_Silent_p.P18P|GPNMB_ENST00000453162.2_Silent_p.P18P|GPNMB_ENST00000409458.3_Silent_p.P18P Q14956 GPNMB_HUMAN glycoprotein (transmembrane) nmb 18 negative regulation of cell proliferation melanosome breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2) 41 GBM - Glioblastoma multiforme(13;0.154) CAAGATTGCCACTTGATGCCG 0.448 4 90 --- --- --- --- PPP1R9A 55607 broad.mit.edu 37 7 94898588 94898588 + Missense_Mutation SNP T T C TCGA-VP-A87E-01A-31D-A34U-08 TCGA-VP-A87E-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eae221e0-1a67-4302-a04a-10195507d23b a73d17ac-6872-4b3d-a945-212f2a20d843 g.chr7:94898588T>C ENST00000289495.5 + 12 2989 c.2773T>C c.(2773-2775)Tct>Cct p.S925P PPP1R9A_ENST00000433881.1_Intron|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.S943P|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.S943P|PPP1R9A_ENST00000340694.4_Intron|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.S965P NM_001166161.1 NP_001159633.1 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory subunit 9A 925 Interacts with TGN38 (By similarity). cell junction|synapse|synaptosome actin binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5) 71 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) GAGAACGTCTTCTCCAGAATC 0.433 HNSCC(28;0.073) 6 34 --- --- --- --- MATN2 4147 broad.mit.edu 37 8 99030231 99030231 + Missense_Mutation SNP T T G TCGA-VP-A87E-01A-31D-A34U-08 TCGA-VP-A87E-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eae221e0-1a67-4302-a04a-10195507d23b a73d17ac-6872-4b3d-a945-212f2a20d843 g.chr8:99030231T>G ENST00000254898.5 + 12 1937 c.1706T>G c.(1705-1707)gTc>gGc p.V569G MATN2_ENST00000520016.1_Missense_Mutation_p.V569G|MATN2_ENST00000524308.1_Missense_Mutation_p.V528G|MATN2_ENST00000522025.2_Missense_Mutation_p.V285G|MATN2_ENST00000521689.1_Missense_Mutation_p.V569G NM_002380.3|NM_030583.2 NP_002371.3|NP_085072.2 O00339 MATN2_HUMAN matrilin 2 569 EGF-like 9. proteinaceous extracellular matrix calcium ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1) 31 Breast(36;1.43e-06) OV - Ovarian serous cystadenocarcinoma(57;0.244) GGGAAAGATGTCTGCCAAGCT 0.488 9 251 --- --- --- --- OR2S2 56656 broad.mit.edu 37 9 35957215 35957215 + Missense_Mutation SNP G G C TCGA-VP-A87E-01A-31D-A34U-08 TCGA-VP-A87E-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eae221e0-1a67-4302-a04a-10195507d23b a73d17ac-6872-4b3d-a945-212f2a20d843 g.chr9:35957215G>C ENST00000341959.2 - 1 936 c.881C>G c.(880-882)cCc>cGc p.P294R NM_019897.2 NP_063950.2 Q9NQN1 OR2S1_HUMAN olfactory receptor, family 2, subfamily S, member 2 294 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194) ATAGATGATGGGGTTGAGCAT 0.517 4 115 --- --- --- --- ITGA8 8516 broad.mit.edu 37 10 15655705 15655705 + Missense_Mutation SNP C C T TCGA-VP-A87E-01A-31D-A34U-08 TCGA-VP-A87E-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eae221e0-1a67-4302-a04a-10195507d23b a73d17ac-6872-4b3d-a945-212f2a20d843 g.chr10:15655705C>T ENST00000378076.3 - 15 1860 c.1507G>A c.(1507-1509)Gaa>Aaa p.E503K NM_003638.1 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 503 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 GTTTTATTTTCAAGATTGATA 0.453 5 129 --- --- --- --- ANKRD26 22852 broad.mit.edu 37 10 27324083 27324083 + Missense_Mutation SNP T T C TCGA-VP-A87E-01A-31D-A34U-08 TCGA-VP-A87E-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eae221e0-1a67-4302-a04a-10195507d23b a73d17ac-6872-4b3d-a945-212f2a20d843 g.chr10:27324083T>C ENST00000376087.4 - 24 3461 c.3296A>G c.(3295-3297)aAg>aGg p.K1099R ANKRD26_ENST00000436985.2_Missense_Mutation_p.K1115R|ANKRD26_ENST00000376070.3_Missense_Mutation_p.K656R NM_001256053.1|NM_014915.2 NP_001242982.1|NP_055730.2 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 1098 centrosome breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2) 70 GCTTAGGTCCTTTTGTACCCG 0.363 4 181 --- --- --- --- FAM13C 220965 broad.mit.edu 37 10 61083780 61083780 + Missense_Mutation SNP G G T TCGA-VP-A87E-01A-31D-A34U-08 TCGA-VP-A87E-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eae221e0-1a67-4302-a04a-10195507d23b a73d17ac-6872-4b3d-a945-212f2a20d843 g.chr10:61083780G>T ENST00000373867.3 - 5 627 c.162C>A c.(160-162)ttC>ttA p.F54L FAM13C_ENST00000419214.2_Missense_Mutation_p.F137L|FAM13C_ENST00000442566.3_Missense_Mutation_p.F137L|FAM13C_ENST00000422313.2_Missense_Mutation_p.F137L|FAM13C_ENST00000373868.2_Missense_Mutation_p.F137L|FAM13C_ENST00000468840.2_Missense_Mutation_p.F54L|FAM13C_ENST00000510215.2_5'UTR|FAM13C_ENST00000277705.6_Missense_Mutation_p.F137L|FAM13C_ENST00000435852.2_Missense_Mutation_p.F137L NM_001166698.1 NP_001160170.1 Q8NE31 FA13C_HUMAN family with sequence similarity 13, member C 137 NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 CTTGGCACTTGAAGGCATTGT 0.488 7 193 --- --- --- --- STOX1 219736 broad.mit.edu 37 10 70645938 70645938 + Missense_Mutation SNP A A G TCGA-VP-A87E-01A-31D-A34U-08 TCGA-VP-A87E-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eae221e0-1a67-4302-a04a-10195507d23b a73d17ac-6872-4b3d-a945-212f2a20d843 g.chr10:70645938A>G ENST00000298596.6 + 3 2469 c.2386A>G c.(2386-2388)Aga>Gga p.R796G STOX1_ENST00000421961.2_Missense_Mutation_p.R686G|STOX1_ENST00000399169.4_Missense_Mutation_p.R796G|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000399162.2_Intron NM_152709.4 NP_689922.3 Q6ZVD7 STOX1_HUMAN storkhead box 1 796 cytoplasm|nucleolus DNA binding breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3) 28 GGTGCTTAAAAGAAATGAATG 0.468 4 68 --- --- --- --- MMP12 4321 broad.mit.edu 37 11 102733793 102733793 + RNA SNP C C G TCGA-VP-A87E-01A-31D-A34U-08 TCGA-VP-A87E-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eae221e0-1a67-4302-a04a-10195507d23b a73d17ac-6872-4b3d-a945-212f2a20d843 g.chr11:102733793C>G ENST00000532855.1 - 0 1546 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) ACTTATTAAGCTGAAGTGAAC 0.313 4 52 --- --- --- --- AKAP11 11215 broad.mit.edu 37 13 42875269 42875269 + Missense_Mutation SNP C C A TCGA-VP-A87E-01A-31D-A34U-08 TCGA-VP-A87E-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eae221e0-1a67-4302-a04a-10195507d23b a73d17ac-6872-4b3d-a945-212f2a20d843 g.chr13:42875269C>A ENST00000025301.2 + 8 2562 c.2387C>A c.(2386-2388)tCt>tAt p.S796Y NM_016248.3 NP_057332.1 Q9UKA4 AKA11_HUMAN A kinase (PRKA) anchor protein 11 796 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2) 56 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) CATATTTCATCTACTGCATGT 0.428 7 86 --- --- --- --- MLH3 27030 broad.mit.edu 37 14 75514215 75514215 + Missense_Mutation SNP G G A TCGA-VP-A87E-01A-31D-A34U-08 TCGA-VP-A87E-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eae221e0-1a67-4302-a04a-10195507d23b a73d17ac-6872-4b3d-a945-212f2a20d843 g.chr14:75514215G>A ENST00000355774.2 - 2 2359 c.2144C>T c.(2143-2145)cCc>cTc p.P715L MLH3_ENST00000238662.7_Missense_Mutation_p.P715L|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000556740.1_Missense_Mutation_p.P715L|MLH3_ENST00000556257.1_Missense_Mutation_p.P715L NM_001040108.1 NP_001035197.1 Q9UHC1 MLH3_HUMAN mutL homolog 3 715 mismatch repair|reciprocal meiotic recombination chiasma|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding 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) GGGGAAAGAGGGGGATGTATC 0.383 Mismatch excision repair (MMR) 11 112 --- --- --- --- DLL4 54567 broad.mit.edu 37 15 41227101 41227101 + Missense_Mutation SNP G G C TCGA-VP-A87E-01A-31D-A34U-08 TCGA-VP-A87E-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eae221e0-1a67-4302-a04a-10195507d23b a73d17ac-6872-4b3d-a945-212f2a20d843 g.chr15:41227101G>C ENST00000249749.5 + 8 1302 c.1026G>C c.(1024-1026)caG>caC p.Q342H NM_019074.3 NP_061947.1 Q9NR61 DLL4_HUMAN delta-like 4 (Drosophila) 342 EGF-like 4. blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway integral to membrane|plasma membrane calcium ion binding|Notch binding breast(3)|large_intestine(1) 4 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164) TCCAGGACCAGGAGGATGGCT 0.607 4 100 --- --- --- --- ZFHX3 463 broad.mit.edu 37 16 72845836 72845836 + Missense_Mutation SNP G G T TCGA-VP-A87E-01A-31D-A34U-08 TCGA-VP-A87E-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eae221e0-1a67-4302-a04a-10195507d23b a73d17ac-6872-4b3d-a945-212f2a20d843 g.chr16:72845836G>T ENST00000268489.5 - 6 4303 c.3631C>A c.(3631-3633)Cca>Aca p.P1211T ZFHX3_ENST00000397992.5_Missense_Mutation_p.P297T NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 1211 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) GCTGTTTTTGGTCGCTTCGAA 0.532 8 134 --- --- --- --- ZNF18 7566 broad.mit.edu 37 17 11881383 11881383 + Missense_Mutation SNP T T C TCGA-VP-A87E-01A-31D-A34U-08 TCGA-VP-A87E-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eae221e0-1a67-4302-a04a-10195507d23b a73d17ac-6872-4b3d-a945-212f2a20d843 g.chr17:11881383T>C ENST00000322748.3 - 9 2145 c.1541A>G c.(1540-1542)cAc>cGc p.H514R ZNF18_ENST00000580306.2_Missense_Mutation_p.H514R|ZNF18_ENST00000454073.3_Missense_Mutation_p.H513R NM_144680.2 NP_653281.2 P17022 ZNF18_HUMAN zinc finger protein 18 514 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4) 14 Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233) CTCTCCAGTGTGAACCCTCTG 0.423 7 96 --- --- --- --- AP2B1 163 broad.mit.edu 37 17 33977804 33977804 + Missense_Mutation SNP G G A TCGA-VP-A87E-01A-31D-A34U-08 TCGA-VP-A87E-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eae221e0-1a67-4302-a04a-10195507d23b a73d17ac-6872-4b3d-a945-212f2a20d843 g.chr17:33977804G>A ENST00000262325.7 + 13 2345 c.1792G>A c.(1792-1794)Ggg>Agg p.G598R AP2B1_ENST00000537622.2_Missense_Mutation_p.G598R|AP2B1_ENST00000312678.8_Missense_Mutation_p.G598R|AP2B1_ENST00000592545.1_Missense_Mutation_p.G560R|AP2B1_ENST00000538556.1_Missense_Mutation_p.G541R|AP2B1_ENST00000589344.1_Missense_Mutation_p.G598R|AP2B1_ENST00000545922.2_3'UTR NM_001282.2 NP_001273.1 P63010 AP2B1_HUMAN adaptor-related protein complex 2, beta 1 subunit 598 Pro-rich (stalk region). axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane clathrin binding|protein transporter activity NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0227) AATTCATCATGGGAGGTAAGA 0.423 5 86 --- --- --- --- AP2B1 163 broad.mit.edu 37 17 33977805 33977805 + Missense_Mutation SNP G G A TCGA-VP-A87E-01A-31D-A34U-08 TCGA-VP-A87E-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eae221e0-1a67-4302-a04a-10195507d23b a73d17ac-6872-4b3d-a945-212f2a20d843 g.chr17:33977805G>A ENST00000262325.7 + 13 2346 c.1793G>A c.(1792-1794)gGg>gAg p.G598E AP2B1_ENST00000537622.2_Missense_Mutation_p.G598E|AP2B1_ENST00000312678.8_Missense_Mutation_p.G598E|AP2B1_ENST00000592545.1_Missense_Mutation_p.G560E|AP2B1_ENST00000538556.1_Missense_Mutation_p.G541E|AP2B1_ENST00000589344.1_Missense_Mutation_p.G598E|AP2B1_ENST00000545922.2_3'UTR NM_001282.2 NP_001273.1 P63010 AP2B1_HUMAN adaptor-related protein complex 2, beta 1 subunit 598 Pro-rich (stalk region). axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane clathrin binding|protein transporter activity NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0227) ATTCATCATGGGAGGTAAGAA 0.418 4 86 --- --- --- --- PTPRS 5802 broad.mit.edu 37 19 5210793 5210793 + Missense_Mutation SNP G G C TCGA-VP-A87E-01A-31D-A34U-08 TCGA-VP-A87E-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eae221e0-1a67-4302-a04a-10195507d23b a73d17ac-6872-4b3d-a945-212f2a20d843 g.chr19:5210793G>C ENST00000372412.4 - 34 5494 c.5261C>G c.(5260-5262)aCa>aGa p.T1754R PTPRS_ENST00000357368.4_Missense_Mutation_p.T1753R|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Missense_Mutation_p.T1733R|PTPRS_ENST00000587303.1_Missense_Mutation_p.T1753R|PTPRS_ENST00000348075.2_Missense_Mutation_p.T1715R|PTPRS_ENST00000588012.1_Missense_Mutation_p.T1715R|PTPRS_ENST00000592099.1_Missense_Mutation_p.T1306R|PTPRS_ENST00000353284.2_Missense_Mutation_p.T1306R Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, S 1753 Tyrosine-protein phosphatase 2. cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) CGGCCCCTGTGTCGCGATGTA 0.657 3 33 --- --- --- --- CYP4F3 4051 broad.mit.edu 37 19 15757912 15757912 + Missense_Mutation SNP C C A TCGA-VP-A87E-01A-31D-A34U-08 TCGA-VP-A87E-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eae221e0-1a67-4302-a04a-10195507d23b a73d17ac-6872-4b3d-a945-212f2a20d843 g.chr19:15757912C>A ENST00000221307.8 + 4 441 c.394C>A c.(394-396)Ctg>Atg p.L132M CYP4F3_ENST00000586182.2_Missense_Mutation_p.L132M|CYP4F3_ENST00000585846.1_Missense_Mutation_p.L132M|CYP4F3_ENST00000591058.1_Missense_Mutation_p.L132M NM_000896.2 NP_000887.2 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 3 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 GAAGCCCTGGCTGGGTGAGTA 0.582 5 114 --- --- --- --- PLCB1 23236 broad.mit.edu 37 20 8862290 8862290 + Missense_Mutation SNP G G C TCGA-VP-A87E-01A-31D-A34U-08 TCGA-VP-A87E-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eae221e0-1a67-4302-a04a-10195507d23b a73d17ac-6872-4b3d-a945-212f2a20d843 g.chr20:8862290G>C ENST00000338037.6 + 32 3472 c.3445G>C c.(3445-3447)Gaa>Caa p.E1149Q PLCB1_ENST00000378641.3_3'UTR NM_015192.2 NP_056007.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 1149 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 GCTGGAGCAAGAATACCAAGA 0.453 5 163 --- --- --- --- UBE2L3 7332 broad.mit.edu 37 22 21947210 21947210 + Missense_Mutation SNP G G C TCGA-VP-A87E-01A-31D-A34U-08 TCGA-VP-A87E-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eae221e0-1a67-4302-a04a-10195507d23b a73d17ac-6872-4b3d-a945-212f2a20d843 g.chr22:21947210G>C ENST00000342192.4 + 2 286 c.88G>C c.(88-90)Gct>Cct p.A30P UBE2L3_ENST00000545681.1_Intron|UBE2L3_ENST00000458578.2_Missense_Mutation_p.A88P NM_003347.3 NP_003338.1 P68036 UB2L3_HUMAN ubiquitin-conjugating enzyme E2L 3 30 cell proliferation|cellular response to glucocorticoid stimulus|protein K11-linked ubiquitination|regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex ATP binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity UBE2L3/KRAS(2) large_intestine(4) 4 Colorectal(54;0.105) GGTTGATGAAGCTAATTTATT 0.418 3 43 --- --- --- --- ARSD 414 broad.mit.edu 37 X 2838677 2838677 + Missense_Mutation SNP A A C TCGA-VP-A87E-01A-31D-A34U-08 TCGA-VP-A87E-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eae221e0-1a67-4302-a04a-10195507d23b a73d17ac-6872-4b3d-a945-212f2a20d843 g.chrX:2838677A>C ENST00000381154.1 - 4 479 c.404T>G c.(403-405)aTc>aGc p.I135S ARSD_ENST00000217890.6_5'UTR NM_001669.3 NP_001660.2 P51689 ARSD_HUMAN arylsulfatase D 135 lysosome arylsulfatase activity|metal ion binding large_intestine(3)|lung(3) 6 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CTGCTGCAAGATTCTTGCAAA 0.527 4 23 --- --- --- --- HDHD1 8226 broad.mit.edu 37 X 7023871 7023871 + Missense_Mutation SNP G G A TCGA-VP-A87E-01A-31D-A34U-08 TCGA-VP-A87E-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eae221e0-1a67-4302-a04a-10195507d23b a73d17ac-6872-4b3d-a945-212f2a20d843 g.chrX:7023871G>A ENST00000381077.5 - 2 146 c.70C>T c.(70-72)Cgg>Tgg p.R24W HDHD1_ENST00000424830.2_Missense_Mutation_p.R47W|HDHD1_ENST00000498474.2_5'UTR|HDHD1_ENST00000540122.1_Missense_Mutation_p.R24W|HDHD1_ENST00000412827.2_Missense_Mutation_p.R24W NM_001178136.1|NM_012080.4 NP_001171607.1|NP_036212.3 Q08623 HDHD1_HUMAN haloacid dehalogenase-like hydrolase domain containing 1 24 nucleotide metabolic process metal ion binding|phosphatase activity breast(2)|large_intestine(1)|lung(3) 6 GAATACAGCCGTTCAGTATCT 0.393 3 10 --- --- --- --- STAG2 10735 broad.mit.edu 37 X 123179076 123179076 + Silent SNP T T C TCGA-VP-A87E-01A-31D-A34U-08 TCGA-VP-A87E-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eae221e0-1a67-4302-a04a-10195507d23b a73d17ac-6872-4b3d-a945-212f2a20d843 g.chrX:123179076T>C ENST00000371160.1 + 8 815 c.525T>C c.(523-525)ttT>ttC p.F175F STAG2_ENST00000371157.3_Silent_p.F175F|STAG2_ENST00000371144.3_Silent_p.F175F|STAG2_ENST00000371145.3_Silent_p.F175F|STAG2_ENST00000354548.5_Silent_p.F106F|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Silent_p.F175F NM_001282418.1 NP_001269347.1 Q8N3U4 STAG2_HUMAN stromal antigen 2 175 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4) 78 AATCCAGTTTTTGTGAATTCA 0.343 18 157 --- --- --- --- MAMLD1 10046 broad.mit.edu 37 X 149639452 149639452 + Missense_Mutation SNP C C G TCGA-VP-A87E-01A-31D-A34U-08 TCGA-VP-A87E-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eae221e0-1a67-4302-a04a-10195507d23b a73d17ac-6872-4b3d-a945-212f2a20d843 g.chrX:149639452C>G ENST00000370401.2 + 4 1917 c.1607C>G c.(1606-1608)cCa>cGa p.P536R MAMLD1_ENST00000455522.2_Missense_Mutation_p.P17R|MAMLD1_ENST00000432680.2_Missense_Mutation_p.P511R|MAMLD1_ENST00000262858.5_Missense_Mutation_p.P536R|MAMLD1_ENST00000426613.2_Missense_Mutation_p.P511R Q13495 MAMD1_HUMAN mastermind-like domain containing 1 536 male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2) 37 Acute lymphoblastic leukemia(192;6.56e-05) GCCACGGAGCCATTTACTTTT 0.542 13 32 --- --- --- ---