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 ZCCHC14 23174 broad.mit.edu 37 16 87445898 87445898 + Missense_Mutation SNP C C A TCGA-HC-8260-01A-11D-2260-08 TCGA-HC-8260-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac240fae-de3a-4831-af2d-0047fca54825 16d78baa-531a-4ec3-a6fa-d68143626080 g.chr16:87445898C>A ENST00000268616.4 - 12 2235 c.2018G>T c.(2017-2019)cGg>cTg p.R673L NM_015144.2 NP_055959.1 Q8WYQ9 ZCH14_HUMAN zinc finger, CCHC domain containing 14 673 cell communication nucleic acid binding|phosphatidylinositol binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 BRCA - Breast invasive adenocarcinoma(80;0.0285) CAGAGCAGTCCGGGGGTTTAT 0.507000 9 73 6.40141e-05 6.87559e-05 1 1 0 FAM171A1 221061 broad.mit.edu 37 10 15255016 15255016 + Silent SNP G G A TCGA-HC-8260-01A-11D-2260-08 TCGA-HC-8260-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac240fae-de3a-4831-af2d-0047fca54825 16d78baa-531a-4ec3-a6fa-d68143626080 g.chr10:15255016G>A ENST00000378116.4 - 8 2577 c.2571C>T c.(2569-2571)caC>caT p.H857H NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 857 integral to membrane breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 CCTCTTCCTCGTGGGCAGATC 0.592000 6 68 0 0 1 0 0 RUNDC3A 10900 broad.mit.edu 37 17 42390845 42390845 + Silent SNP G G A TCGA-HC-8260-01A-11D-2260-08 TCGA-HC-8260-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac240fae-de3a-4831-af2d-0047fca54825 16d78baa-531a-4ec3-a6fa-d68143626080 g.chr17:42390845G>A ENST00000426726.3 + 4 706 c.432G>A c.(430-432)acG>acA p.T144T RUNDC3A_ENST00000225441.7_Silent_p.T144T|RUNDC3A_ENST00000590941.1_Silent_p.T139T|AC003102.3_ENST00000588097.1_RNA NM_001144825.1 NP_001138297.1 Q59EK9 RUN3A_HUMAN RUN domain containing 3A 144 Interaction with RAP2A (By similarity).|RUN. small GTPase mediated signal transduction small GTPase regulator activity large_intestine(1)|lung(1)|ovary(2) 4 Prostate(33;0.0233) BRCA - Breast invasive adenocarcinoma(366;0.189) ACATCACCACGGCTCTGCGTG 0.567000 4 45 0 0 1 0 0 PCDHA13 0 broad.mit.edu 37 5 140263757 140263757 + Missense_Mutation SNP G G A rs142435897 TCGA-HC-8260-01A-11D-2260-08 TCGA-HC-8260-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac240fae-de3a-4831-af2d-0047fca54825 16d78baa-531a-4ec3-a6fa-d68143626080 g.chr5:140263757G>A ENST00000289272.2 + 1 1904 c.1904G>A c.(1903-1905)cGc>cAc p.R635H PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.R635H|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron NM_018904.2|NM_031865.1 NP_061727.1|NP_114071.1 NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCACGACGCGCCCTCTGGAC 0.677000 19 87 0 0 1 0 0 GCC1 79571 broad.mit.edu 37 7 127222427 127222427 + Missense_Mutation SNP C C T TCGA-HC-8260-01A-11D-2260-08 TCGA-HC-8260-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac240fae-de3a-4831-af2d-0047fca54825 16d78baa-531a-4ec3-a6fa-d68143626080 g.chr7:127222427C>T ENST00000321407.2 - 2 2393 c.1969G>A c.(1969-1971)Gct>Act p.A657T NM_024523.5 NP_078799.2 Q96CN9 GCC1_HUMAN GRIP and coiled-coil domain containing 1 657 Golgi membrane|plasma membrane protein binding breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 AGTTGCTCAGCGTACAGAAAG 0.577000 4 49 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625971 29625971 + Missense_Mutation SNP C C A rs145033899 TCGA-HC-8260-01A-11D-2260-08 TCGA-HC-8260-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac240fae-de3a-4831-af2d-0047fca54825 16d78baa-531a-4ec3-a6fa-d68143626080 g.chr20:29625971C>A ENST00000278882.3 + 5 595 c.215C>A c.(214-216)cCa>cAa p.P72Q FRG1B_ENST00000358464.4_Missense_Mutation_p.P72Q|FRG1B_ENST00000439954.2_Missense_Mutation_p.P77Q endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 CAATGGGAACCAGTCTTTCAA 0.328000 3 52 0.115264 0.115264 1 1 0 MAT1A 4143 broad.mit.edu 37 10 82034334 82034334 + Nonsense_Mutation SNP G G A TCGA-HC-8260-01A-11D-2260-08 TCGA-HC-8260-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac240fae-de3a-4831-af2d-0047fca54825 16d78baa-531a-4ec3-a6fa-d68143626080 g.chr10:82034334G>A ENST00000372213.3 - 8 1287 c.1027C>T c.(1027-1029)Cga>Tga p.R343* MAT1A_ENST00000485270.1_5'UTR NM_000429.2 NP_000420.1 Q00266 METK1_HUMAN methionine adenosyltransferase I, alpha 343 methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process cytosol ATP binding|metal ion binding|methionine adenosyltransferase activity endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Colorectal(32;0.229) L-Methionine(DB00134)|S-Adenosylmethionine(DB00118) AGCAGCTCTCGCTCTGTCTTC 0.557000 6 67 0 0 1 0 0 GCG 2641 broad.mit.edu 37 2 163005635 163005635 + Silent SNP G G A TCGA-HC-8260-01A-11D-2260-08 TCGA-HC-8260-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac240fae-de3a-4831-af2d-0047fca54825 16d78baa-531a-4ec3-a6fa-d68143626080 g.chr2:163005635G>A ENST00000418842.2 - 2 308 c.54C>T c.(52-54)agC>agT p.S18S GCG_ENST00000375497.3_Silent_p.S18S NM_002054.4 NP_002045.1 P01275 GLUC_HUMAN glucagon 18 cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion plasma membrane|soluble fraction hormone activity breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9) 14 Exenatide(DB01276)|Phentolamine(DB00692) AACGTTGCCAGCTGCCTTGTA 0.438000 10 77 0 0 1 0 0 ANKRD30BP2 0 broad.mit.edu 37 21 14414855 14414855 + RNA SNP A A G rs141732548 by1000genomes TCGA-HC-8260-01A-11D-2260-08 TCGA-HC-8260-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac240fae-de3a-4831-af2d-0047fca54825 16d78baa-531a-4ec3-a6fa-d68143626080 g.chr21:14414855A>G ENST00000507941.1 + 0 95 GCCAATGGCCATGCAGAAGTA 0.448000 9 41 0 0 1 0 0 ENOSF1 55556 broad.mit.edu 37 18 697346 697346 + Missense_Mutation SNP G G A TCGA-HC-8260-01A-11D-2260-08 TCGA-HC-8260-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac240fae-de3a-4831-af2d-0047fca54825 16d78baa-531a-4ec3-a6fa-d68143626080 g.chr18:697346G>A ENST00000251101.7 - 3 291 c.203C>T c.(202-204)gCt>gTt p.A68V ENOSF1_ENST00000383578.3_Intron|ENOSF1_ENST00000580982.1_Intron|ENOSF1_ENST00000340116.7_Missense_Mutation_p.A89V|ENOSF1_ENST00000539164.1_Missense_Mutation_p.A68V NM_017512.5 NP_059982.2 Q7L5Y1 ENOF1_HUMAN enolase superfamily member 1 68 cellular amino acid catabolic process mitochondrion isomerase activity|metal ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1) 10 GGCATTCACAGCACAGACAAC 0.428000 5 85 0 0 1 0 0 PLCG2 5336 broad.mit.edu 37 16 81965227 81965227 + Missense_Mutation SNP A A G TCGA-HC-8260-01A-11D-2260-08 TCGA-HC-8260-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac240fae-de3a-4831-af2d-0047fca54825 16d78baa-531a-4ec3-a6fa-d68143626080 g.chr16:81965227A>G ENST00000359376.3 + 25 2921 c.2707A>G c.(2707-2709)Atc>Gtc p.I903V NM_002661.3 NP_002652.2 P16885 PLCG2_HUMAN phospholipase C, gamma 2 (phosphatidylinositol-specific) 903 intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 58 GTTTCAGAGCATCCGAGAGAT 0.577000 5 61 0 0 1 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39261693 39261693 + Missense_Mutation SNP A A T rs113059833 by1000genomes TCGA-HC-8260-01A-11D-2260-08 TCGA-HC-8260-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac240fae-de3a-4831-af2d-0047fca54825 16d78baa-531a-4ec3-a6fa-d68143626080 g.chr17:39261693A>T ENST00000391415.1 + 1 110 c.53A>T c.(52-54)gAc>gTc p.D18V NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 18 keratin filament p.D18V(1) central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 TGCGGCCAAGACCTCTGTCAG 0.627000 4 38 0 0 1 0 0 ATM 472 broad.mit.edu 37 11 108205765 108205765 + Missense_Mutation SNP G G A TCGA-HC-8260-01A-11D-2260-08 TCGA-HC-8260-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac240fae-de3a-4831-af2d-0047fca54825 16d78baa-531a-4ec3-a6fa-d68143626080 g.chr11:108205765G>A ENST00000278616.4 + 55 8465 c.8080G>A c.(8080-8082)Gga>Aga p.G2694R C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.G2694R NM_000051.3 NP_000042.3 Q13315 ATM_HUMAN ataxia telangiectasia mutated 2694 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding p.G2695delG(1) NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|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;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) TCGCTTAGCAGGAGGTGTAAA 0.398000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 6 23 0 0 1 0 0 TSR1 55720 broad.mit.edu 37 17 2236286 2236286 + Missense_Mutation SNP T T C TCGA-HC-8260-01A-11D-2260-08 TCGA-HC-8260-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac240fae-de3a-4831-af2d-0047fca54825 16d78baa-531a-4ec3-a6fa-d68143626080 g.chr17:2236286T>C ENST00000301364.4 - 7 2353 c.1274A>G c.(1273-1275)gAa>gGa p.E425G NM_018128.4 NP_060598.3 Q2NL82 TSR1_HUMAN TSR1, 20S rRNA accumulation, homolog (S. cerevisiae) 425 Glu-rich. ribosome assembly nucleolus protein binding autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 20 ATCCTCATGTTCCATATCATC 0.448000 5 28 0 0 1 0 0 BAHD1 22893 broad.mit.edu 37 15 40754435 40754435 + Missense_Mutation SNP G G A rs143007309 TCGA-HC-8260-01A-11D-2260-08 TCGA-HC-8260-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac240fae-de3a-4831-af2d-0047fca54825 16d78baa-531a-4ec3-a6fa-d68143626080 g.chr15:40754435G>A ENST00000561234.1 + 3 2013 c.1754G>A c.(1753-1755)cGc>cAc p.R585H BAHD1_ENST00000560846.1_Missense_Mutation_p.R586H|BAHD1_ENST00000416165.1_Missense_Mutation_p.R586H Q8TBE0 BAHD1_HUMAN bromo adjacent homology domain containing 1 586 Arg-rich. heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin silencing complex|chromosome chromatin binding|DNA binding|protein binding NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 28 all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08) CGCCGTCGCCGCCGCACTAAT 0.647000 4 95 0 0 1 0 0 SPATA31A6 389730 broad.mit.edu 37 9 43627235 43627235 + Missense_Mutation SNP T T A TCGA-HC-8260-01A-11D-2260-08 TCGA-HC-8260-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac240fae-de3a-4831-af2d-0047fca54825 16d78baa-531a-4ec3-a6fa-d68143626080 g.chr9:43627235T>A ENST00000332857.6 - 4 1480 c.1452A>T c.(1450-1452)caA>caT p.Q484H NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 TGGGCAGGAATTGGGGTGTGG 0.537000 30 142 0 0 1 0 0 ANKRD30BP2 0 broad.mit.edu 37 21 14414844 14414844 + RNA SNP T T C rs148060711 by1000genomes TCGA-HC-8260-01A-11D-2260-08 TCGA-HC-8260-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac240fae-de3a-4831-af2d-0047fca54825 16d78baa-531a-4ec3-a6fa-d68143626080 g.chr21:14414844T>C ENST00000507941.1 + 0 95 ACTGGGCCTGTGCCAATGGCC 0.433000 8 39 0 0 1 0 0 TET1 80312 broad.mit.edu 37 10 70332588 70332588 + Missense_Mutation SNP G G C TCGA-HC-8260-01A-11D-2260-08 TCGA-HC-8260-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac240fae-de3a-4831-af2d-0047fca54825 16d78baa-531a-4ec3-a6fa-d68143626080 g.chr10:70332588G>C ENST00000373644.4 + 2 702 c.493G>C c.(493-495)Gtc>Ctc p.V165L NM_030625.2 NP_085128.2 Q8NFU7 TET1_HUMAN tet methylcytosine dioxygenase 1 165 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 AGACACCCAAGTCCTTCCTGA 0.398000 4 39 0 0 1 0 0 ANKRD30BP2 0 broad.mit.edu 37 21 14414902 14414902 + RNA SNP G G A rs2821609 by1000genomes TCGA-HC-8260-01A-11D-2260-08 TCGA-HC-8260-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac240fae-de3a-4831-af2d-0047fca54825 16d78baa-531a-4ec3-a6fa-d68143626080 g.chr21:14414902G>A ENST00000507941.1 + 0 95 CCAGCTTGACGTCCTTGATGG 0.443000 8 27 0 0 1 0 0 ATG4D 84971 broad.mit.edu 37 19 10663643 10663643 + Missense_Mutation SNP A A G TCGA-HC-8260-01A-11D-2260-08 TCGA-HC-8260-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac240fae-de3a-4831-af2d-0047fca54825 16d78baa-531a-4ec3-a6fa-d68143626080 g.chr19:10663643A>G ENST00000309469.4 + 10 1498 c.1325A>G c.(1324-1326)gAc>gGc p.D442G ATG4D_ENST00000540862.1_Missense_Mutation_p.D109G NM_032885.4 NP_116274.3 Q86TL0 ATG4D_HUMAN autophagy related 4D, cysteine peptidase 442 autophagy|protein transport cytoplasm cysteine-type endopeptidase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 19 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) AGCCTGGACGACCTCTGCTCC 0.642000 3 61 0 0 1 0 0 MEX3A 92312 broad.mit.edu 37 1 156046660 156046660 + Frame_Shift_Del DEL G G - TCGA-HC-8260-01A-11D-2260-08 TCGA-HC-8260-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac240fae-de3a-4831-af2d-0047fca54825 16d78baa-531a-4ec3-a6fa-d68143626080 g.chr1:156046660delG ENST00000532414.2 - 2 1267 c.1268delC c.(1267-1269)cgfs p.P423fs NM_001093725.1 NP_001087194.1 A1L020 MEX3A_HUMAN mex-3 RNA binding family member A 423 cytoplasmic mRNA processing body|nucleus RNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(3) 9 Hepatocellular(266;0.158)|all_neural(408;0.195) GTGTGCGCCCGGGGGCCCAGC 0.731 2 4 --- --- --- --- AC019118.2 0 broad.mit.edu 37 2 2910722 2910723 + RNA INS - - T TCGA-HC-8260-01A-11D-2260-08 TCGA-HC-8260-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac240fae-de3a-4831-af2d-0047fca54825 16d78baa-531a-4ec3-a6fa-d68143626080 g.chr2:2910722_2910723insT ENST00000457478.1 - 0 594 tccaccccctctccccagccca 0.708 6 5 --- --- --- --- SBNO2 22904 broad.mit.edu 37 19 1114389 1114389 + Frame_Shift_Del DEL G G - TCGA-HC-8260-01A-11D-2260-08 TCGA-HC-8260-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac240fae-de3a-4831-af2d-0047fca54825 16d78baa-531a-4ec3-a6fa-d68143626080 g.chr19:1114389delG ENST00000361757.3 - 18 2155 c.1918delC c.(1918-1920)ggfs p.R640fs SBNO2_ENST00000438103.2_Frame_Shift_Del_p.R583fs|SBNO2_ENST00000587024.1_Frame_Shift_Del_p.R630fs NM_014963.2 NP_055778.2 Q9Y2G9 SBNO2_HUMAN strawberry notch homolog 2 (Drosophila) 640 macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CACGCCAGCCGGGGGGCTTTG 0.697 2 4 --- --- --- --- MIR3648 0 broad.mit.edu 37 21 9825838 9825839 + RNA INS - - GCG rs3052281 TCGA-HC-8260-01A-11D-2260-08 TCGA-HC-8260-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac240fae-de3a-4831-af2d-0047fca54825 16d78baa-531a-4ec3-a6fa-d68143626080 g.chr21:9825838_9825839insGCG ENST00000581792.1 + 0 7_8 NR_037421.1 cggccgcgactgcggcggcggt 0.842 7 67 --- --- --- ---