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 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 4 94 0 0 0.009096 0 0 PALMD 54873 broad.mit.edu 37 1 100154340 100154340 + Missense_Mutation SNP C C T TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr1:100154340C>T ENST00000263174.4 + 7 899 c.524C>T c.(523-525)gCc>gTc p.A175V PALMD_ENST00000605497.1_Missense_Mutation_p.A175V NM_017734.4 NP_060204.1 Q9NP74 PALMD_HUMAN palmdelphin 175 regulation of cell shape cytoplasm|membrane central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2) 31 all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216) Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201) GCTTTATATGCCATGGAAATT 0.299000 18 49 0 0 0.055883 0 0 PIAS3 10401 broad.mit.edu 37 1 145578441 145578441 + Missense_Mutation SNP A A G TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr1:145578441A>G ENST00000393045.2 + 2 494 c.404A>G c.(403-405)tAt>tGt p.Y135C PIAS3_ENST00000369298.1_Missense_Mutation_p.Y100C|PIAS3_ENST00000369299.3_Missense_Mutation_p.Y126C NM_006099.3 NP_006090.2 Q9Y6X2 PIAS3_HUMAN protein inhibitor of activated STAT, 3 135 PINIT. positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2) 28 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TTGCCCTTCTATGAAGTCTAT 0.582000 19 219 0 0 0.030593 0 0 FRG1B 0 broad.mit.edu 37 20 29625947 29625947 + Missense_Mutation SNP T T C TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr20:29625947T>C ENST00000278882.3 + 5 571 c.191T>C c.(190-192)aTt>aCt p.I64T FRG1B_ENST00000358464.4_Missense_Mutation_p.I64T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I69T p.I64T(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TCAGATGCAATTGGACCAAGA 0.343000 4 101 0 0 0.038147 0 0 IGF2R 3482 broad.mit.edu 37 6 160464296 160464296 + Missense_Mutation SNP G G A TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr6:160464296G>A ENST00000356956.1 + 12 1745 c.1597G>A c.(1597-1599)Gag>Aag p.E533K NM_000876.2 NP_000867.2 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor 533 receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) AGGGTGTCCCGAGGACGCGGC 0.493000 60 133 0 0 0.048971 0 0 FRG1B 0 broad.mit.edu 37 20 29628236 29628236 + Missense_Mutation SNP G G C rs145412486 by1000genomes TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr20:29628236G>C ENST00000278882.3 + 6 618 c.238G>C c.(238-240)Gct>Cct p.A80P FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P|FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P p.A80P(8) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGGAAAATGGCTTTGTTGGC 0.363000 5 230 0 0 0.047766 0 0 FRG1B 0 broad.mit.edu 37 20 29628245 29628245 + Missense_Mutation SNP G G A TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr20:29628245G>A ENST00000278882.3 + 6 627 c.247G>A c.(247-249)Gcc>Acc p.A83T FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T p.A83T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTTTGTTGGCCTCAAATAG 0.353000 6 231 0 0 0.058154 0 0 AQP5 362 broad.mit.edu 37 12 50357924 50357924 + Missense_Mutation SNP C C T rs117761535 byFrequency TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr12:50357924C>T ENST00000293599.6 + 3 726 c.578C>T c.(577-579)gCg>gTg p.A193V NM_001651.2 NP_001642.1 P55064 AQP5_HUMAN aquaporin 5 193 carbon dioxide transport|excretion|odontogenesis|pancreatic juice secretion apical plasma membrane|integral to plasma membrane protein binding|water channel activity large_intestine(1)|lung(3) 4 TTTGGCCCTGCGGTGGTCATG 0.612000 44 91 0 0 0.048971 0 0 TERT 0 broad.mit.edu 37 5 1293592 1293592 + Missense_Mutation SNP C C T TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr5:1293592C>T ENST00000310581.5 - 2 1466 c.1409G>A c.(1408-1410)cGc>cAc p.R470H TERT_ENST00000508104.2_Missense_Mutation_p.R470H|TERT_ENST00000296820.5_Missense_Mutation_p.R470H|TERT_ENST00000334602.6_Missense_Mutation_p.R470H NM_001193376.1|NM_198253.2 NP_001180305.1|NP_937983.2 O14746 TERT_HUMAN telomerase reverse transcriptase 470 QFP motif.|RNA-interacting domain 2.|Required for oligomerization. anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase cytoplasm|nucleolus|PML body|telomerase holoenzyme complex protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 41 all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10) Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) CACCAGCCGGCGCAGGCAGGC 0.687000 TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis 5 7 0 0 0.029380 0 0 UQCRC1 7384 broad.mit.edu 37 3 48637950 48637950 + Missense_Mutation SNP T T A TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr3:48637950T>A ENST00000203407.5 - 10 1594 c.1178A>T c.(1177-1179)aAc>aTc p.N393I NM_003365.2 NP_003356.2 P31930 QCR1_HUMAN ubiquinol-cytochrome c reductase core protein I 393 aerobic respiration|proteolysis metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) Atovaquone(DB01117) TCTGAGGATGTTTTTGCCCCG 0.567000 33 57 0 0 0.042209 0 0 SKIDA1 387640 broad.mit.edu 37 10 21805720 21805720 + Silent SNP A A G TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr10:21805720A>G ENST00000449193.2 - 4 3284 c.1032T>C c.(1030-1032)caT>caC p.H344H SKIDA1_ENST00000444772.3_Silent_p.H265H NM_207371.3 NP_997254.3 SKI/DACH domain containing 1 ggtggtggtgatggtggtggt 0.716000 2 4 0 0 0.004672 0 0 C7orf33 202865 broad.mit.edu 37 7 148288066 148288066 + Missense_Mutation SNP C C A TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr7:148288066C>A ENST00000307003.2 + 1 410 c.49C>A c.(49-51)Ctt>Att p.L17I NM_145304.2 NP_660347.1 Q8WU49 CG033_HUMAN chromosome 7 open reading frame 33 17 central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2) 14 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) TCCCTGGAGACTTCCAGGCCC 0.567000 24 65 9.90768e-06 1.08084e-05 0.024334 1 0 UBE2O 63893 broad.mit.edu 37 17 74398184 74398184 + Silent SNP G G A TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr17:74398184G>A ENST00000319380.7 - 5 775 c.711C>T c.(709-711)ggC>ggT p.G237G NM_022066.3 NP_071349.3 Q9C0C9 UBE2O_HUMAN ubiquitin-conjugating enzyme E2O 237 ATP binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 AGAGCTTGGCGCCATCTTCCG 0.552000 3 47 0 0 0.009096 0 0 FRG1B 0 broad.mit.edu 37 20 29628300 29628300 + Missense_Mutation SNP G G A TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr20:29628300G>A ENST00000278882.3 + 6 682 c.302G>A c.(301-303)aGt>aAt p.S101N FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N p.S101N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GAAGCAAAAAGTAAAACAGCA 0.358000 7 126 0 0 0.043863 0 0 ZNF860 344787 broad.mit.edu 37 3 32031962 32031962 + Missense_Mutation SNP A A G rs1808125 by1000genomes TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr3:32031962A>G ENST00000360311.4 + 2 1940 c.1391A>G c.(1390-1392)cAt>cGt p.H464R NM_001137674.2 NP_001131146.2 A6NHJ4 ZN860_HUMAN zinc finger protein 860 464 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|lung(4)|ovary(1) 8 AAGACCTTCCATCACAATTCA 0.418000 4 129 0 0 0.014758 0 0 NLRC3 197358 broad.mit.edu 37 16 3614041 3614041 + RNA SNP C C T TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr16:3614041C>T ENST00000301749.7 - 0 1302 NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000603507.1_RNA NM_178844.2 NP_849172.2 Q7RTR2 NLRC3_HUMAN NLR family, CARD domain containing 3 I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation cytoplasm ATP binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GGAACATCTGCTCCAAACACA 0.627000 5 78 0 0 0.021553 0 0 AKNAD1 254268 broad.mit.edu 37 1 109394761 109394761 + Missense_Mutation SNP T T C TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr1:109394761T>C ENST00000370001.3 - 2 794 c.526A>G c.(526-528)Agg>Ggg p.R176G AKNAD1_ENST00000357393.4_Intron|AKNAD1_ENST00000369994.1_Missense_Mutation_p.R176G|AKNAD1_ENST00000369995.3_Missense_Mutation_p.R176G NM_152763.4 NP_689976.2 Q5T1N1 AKND1_HUMAN AKNA domain containing 1 176 breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2) 32 TCACCATCCCTTTTCGGGTTG 0.423000 3 109 0 0 0.009096 0 0 PPP2R1A 5518 broad.mit.edu 37 19 52719042 52719042 + Missense_Mutation SNP C C T TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr19:52719042C>T ENST00000322088.6 + 7 876 c.818C>T c.(817-819)gCa>gTa p.A273V PPP2R1A_ENST00000462990.1_Missense_Mutation_p.A94V|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.A218V NM_014225.5 NP_055040.2 P30153 2AAA_HUMAN protein phosphatase 2, regulatory subunit A, alpha 273 PP2A subunit B binding.|Polyoma small and medium T antigens Binding. ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 135 GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015) CTCCAGAAAGCAGTGGGGCCT 0.577000 Mis clear cell ovarian carcinoma 29 69 0 0 0.033182 0 0 MAP4 4134 broad.mit.edu 37 3 47958144 47958144 + Silent SNP A A G TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr3:47958144A>G ENST00000426837.2 - 8 1311 c.1224T>C c.(1222-1224)gcT>gcC p.A408A MAP4_ENST00000360240.6_Silent_p.A391A|MAP4_ENST00000395734.3_Silent_p.A391A|MAP4_ENST00000383737.4_Intron P27816 MAP4_HUMAN microtubule-associated protein 4 391 17 X 14 AA tandem repeats. negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity p.A391A(2) breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2) 32 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) CCTTGGAAGGAGCCAAGTCCA 0.443000 4 194 0 0 0.021553 0 0 DPY19L2P1 0 broad.mit.edu 37 7 35131548 35131548 + RNA SNP G G A rs144021252 by1000genomes TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr7:35131548G>A ENST00000436258.1 - 0 1821 TGGCACCTGCGAAGACAGCAT 0.388000 3 74 0 0 0.029380 0 0 RP11-69H14.6 0 broad.mit.edu 37 15 22332492 22332492 + RNA SNP A A C TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr15:22332492A>C ENST00000558896.1 + 0 299 TATTTCTCTTATTACTATTTT 0.383000 5 189 0 0 0.021553 0 0 NFAT5 10725 broad.mit.edu 37 16 69727910 69727910 + Missense_Mutation SNP A A T TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr16:69727910A>T ENST00000349945.1 + 14 5452 c.3900A>T c.(3898-3900)ttA>ttT p.L1300F NFAT5_ENST00000567239.1_Missense_Mutation_p.L1393F|NFAT5_ENST00000566899.1_Missense_Mutation_p.L1300F|NFAT5_ENST00000432919.1_Missense_Mutation_p.L1394F|NFAT5_ENST00000354436.2_Missense_Mutation_p.L1376F|NFAT5_ENST00000393742.2_Missense_Mutation_p.L1300F NM_138714.3 NP_619728.2 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5, tonicity-responsive 1376 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 CTCTCTTCTTATCTCCAGCAT 0.453000 29 61 0 0 0.059317 0 0 YTHDC1 91746 broad.mit.edu 37 4 69197877 69197877 + Missense_Mutation SNP T T C TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr4:69197877T>C ENST00000344157.4 - 7 1401 c.1066A>G c.(1066-1068)Aga>Gga p.R356G YTHDC1_ENST00000579690.1_Missense_Mutation_p.R356G|YTHDC1_ENST00000355665.3_Missense_Mutation_p.R338G NM_001031732.2 NP_001026902.1 Q96MU7 YTDC1_HUMAN YTH domain containing 1 356 YTH. NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 30 AGGAAAAATCTTGCATCTTGA 0.343000 21 73 0 0 0.018920 0 0 PHOX2A 401 broad.mit.edu 37 11 71950915 71950915 + Missense_Mutation SNP C C T TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr11:71950915C>T ENST00000298231.5 - 3 904 c.733G>A c.(733-735)Gcg>Acg p.A245T PHOX2A_ENST00000544057.1_5'UTR NM_005169.3 NP_005160.2 O14813 PHX2A_HUMAN paired-like homeobox 2a 245 Poly-Gly. noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2) 5 GCCGCTCCCGCGCCAGGCCCG 0.771000 3 8 0 0 0.004672 0 0 RBM12B 389677 broad.mit.edu 37 8 94747584 94747584 + Missense_Mutation SNP G G A TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr8:94747584G>A ENST00000399300.2 - 3 1268 c.1055C>T c.(1054-1056)cCa>cTa p.P352L RBM12B_ENST00000517700.1_Missense_Mutation_p.P352L|RBM12B_ENST00000520961.1_Intron NM_203390.2 NP_976324.2 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 352 RRM 2. nucleotide binding|RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 30 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) AATATGAACTGGACGATATTG 0.363000 18 42 0 0 0.043863 0 0 ATP1A4 480 broad.mit.edu 37 1 160124992 160124992 + Missense_Mutation SNP C C T TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr1:160124992C>T ENST00000368081.4 + 3 836 c.365C>T c.(364-366)gCc>gTc p.A122V NM_144699.3 NP_653300.2 Q13733 AT1A4_HUMAN ATPase, Na+/K+ transporting, alpha 4 polypeptide 122 ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 75 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TGCTTTGTGGCCTACAGCATC 0.517000 3 53 0 0 0.004672 0 0 ARHGEF2 9181 broad.mit.edu 37 1 155932417 155932417 + Silent SNP G G A TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr1:155932417G>A ENST00000368316.1 - 13 1454 c.984C>T c.(982-984)taC>taT p.Y328Y ARHGEF2_ENST00000368315.3_Silent_p.Y357Y|ARHGEF2_ENST00000361247.4_Silent_p.Y356Y|ARHGEF2_ENST00000313667.4_Silent_p.Y355Y|ARHGEF2_ENST00000313695.7_Silent_p.Y328Y Q92974 ARHG2_HUMAN Rho/Rac guanine nucleotide exchange factor (GEF) 2 356 DH. actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2) 40 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) TGTCTCGGGCGTACAGCTCCT 0.557000 4 128 0 0 0.014758 0 0 PPP1R15B 84919 broad.mit.edu 37 1 204380470 204380470 + Missense_Mutation SNP A A G TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr1:204380470A>G ENST00000367188.4 - 1 449 c.70T>C c.(70-72)Ttt>Ctt p.F24L RP11-739N20.2_ENST00000443515.1_RNA NM_032833.3 NP_116222.3 Q5SWA1 PR15B_HUMAN protein phosphatase 1, regulatory subunit 15B 24 regulation of translation breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3) 34 all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227) all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139) CGAGGGAAAAAGGGTGGCCAG 0.627000 3 134 0 0 0.004672 0 0 ZNF493 284443 broad.mit.edu 37 19 21606712 21606712 + Silent SNP T T C TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr19:21606712T>C ENST00000392288.2 + 4 1360 c.1251T>C c.(1249-1251)tcT>tcC p.S417S CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Silent_p.S289S NM_001076678.2 NP_001070146.1 Q6ZR52 ZN493_HUMAN zinc finger protein 493 289 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 ATAAGGAGTCTTCACACCTTA 0.348000 4 75 0 0 0.038147 0 0 SBNO1 55206 broad.mit.edu 37 12 123805012 123805012 + Silent SNP G G A TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr12:123805012G>A ENST00000420886.2 - 18 2633 c.2634C>T c.(2632-2634)atC>atT p.I878I SBNO1_ENST00000602750.1_Silent_p.I877I|SBNO1_ENST00000602398.1_Silent_p.I878I|SBNO1_ENST00000267176.4_Silent_p.I877I NM_001167856.1 NP_001161328.1 A3KN83 SBNO1_HUMAN strawberry notch homolog 1 (Drosophila) 878 ATP binding|DNA binding|hydrolase activity NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2) 62 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) CAAGTTCATCGATAAGTTCAT 0.438000 34 98 0 0 0.030466 0 0 SEMA7A 8482 broad.mit.edu 37 15 74703138 74703138 + Missense_Mutation SNP G G A TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr15:74703138G>A ENST00000261918.4 - 14 2376 c.1828C>T c.(1828-1830)Cac>Tac p.H610Y SEMA7A_ENST00000542748.1_Missense_Mutation_p.H445Y|SEMA7A_ENST00000543145.2_Missense_Mutation_p.H596Y NM_003612.3 NP_003603.1 O75326 SEM7A_HUMAN semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group) 610 Ig-like C2-type. axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response anchored to membrane|external side of plasma membrane receptor activity breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1) 30 CAGAAGTAGTGGCCGTACTGC 0.637000 27 44 0 0 0.041601 0 0 PTCD1 26024 broad.mit.edu 37 7 99032844 99032844 + Nonsense_Mutation SNP G G A rs138103080 TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr7:99032844G>A ENST00000292478.4 - 2 272 c.22C>T c.(22-24)Cga>Tga p.R8* PTCD1_ENST00000555673.1_Nonsense_Mutation_p.R57*|ATP5J2-PTCD1_ENST00000413834.1_Nonsense_Mutation_p.R57* NM_015545.3 NP_056360.2 pentatricopeptide repeat domain 1 endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1) 27 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) GCGAACAGTCGAGCGAGTCTC 0.567000 19 114 0 0 0.076483 0 0 XIST 0 broad.mit.edu 37 X 73071160 73071160 + RNA SNP G G A TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chrX:73071160G>A ENST00000429829.1 - 0 1428 NR_001564.2 AAAGCACACAGCAAAGACAAA 0.517000 3 59 0 0 0.004672 0 0 ACVR2B 93 broad.mit.edu 37 3 38523689 38523689 + Splice_Site SNP G G C TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr3:38523689G>C ENST00000352511.3 + 9 1547 c.1074_splice c.e9-1 p.V359_splice NM_001106.3 NP_001097.2 Q13705 AVR2B_HUMAN activin A receptor, type IIB 359 Protein kinase. activin receptor signaling pathway|anterior/posterior pattern formation|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent cell surface|cytoplasm|integral to plasma membrane activin receptor activity|ATP binding|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity lung(1) 1 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071) CCTCACATAGGTAGGCACGAG 0.562000 26 70 0 0 0.050027 0 0 SLC22A14 9389 broad.mit.edu 37 3 38357110 38357110 + Silent SNP G G T TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr3:38357110G>T ENST00000273173.4 + 8 1531 c.1440G>T c.(1438-1440)acG>acT p.T480T SLC22A14_ENST00000448498.1_Silent_p.T480T NM_004803.3 NP_004794.2 Q9Y267 S22AE_HUMAN solute carrier family 22, member 14 480 integral to plasma membrane organic cation transmembrane transporter activity central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696) AATCCATGACGATCTTGGTGC 0.592000 74 133 7.2426e-40 8.19917e-40 0.048971 1 0 FRG1B 0 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 5 231 0 0 0.058154 0 0 THSD1 55901 broad.mit.edu 37 13 52971586 52971586 + Missense_Mutation SNP C C T TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr13:52971586C>T ENST00000349258.4 - 3 1346 c.802G>A c.(802-804)Gtc>Atc p.V268I THSD1_ENST00000544466.1_Intron|THSD1_ENST00000258613.4_Missense_Mutation_p.V268I NM_199263.2 NP_954872.1 Q9NS62 THSD1_HUMAN thrombospondin, type I, domain containing 1 268 extracellular region|integral to membrane|intracellular membrane-bounded organelle p.V268I(1) breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.8e-08) ACTCCTTGGACGAAGGTGCAT 0.562000 30 78 0 0 0.059317 0 0 BAGE2 85319 broad.mit.edu 37 21 11058353 11058353 + RNA SNP T T C rs79433933 by1000genomes TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr21:11058353T>C ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GAAATCTCTTTATAAAACCTT 0.343000 4 124 0 0 0.009096 0 0 AFF3 3899 broad.mit.edu 37 2 100623626 100623626 + Silent SNP G G A TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr2:100623626G>A ENST00000317233.4 - 5 706 c.471C>T c.(469-471)gaC>gaT p.D157D AFF3_ENST00000356421.2_Silent_p.D182D|AFF3_ENST00000409236.1_Silent_p.D157D|AFF3_ENST00000409579.1_Silent_p.D182D NM_002285.2 NP_002276.2 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 157 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 TCTGTTGGCCGTCAGAGGGTG 0.498000 38 69 0 0 0.048971 0 0 KPNA1 3836 broad.mit.edu 37 3 122168506 122168506 + Missense_Mutation SNP G G A TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr3:122168506G>A ENST00000344337.6 - 9 1008 c.832C>T c.(832-834)Ctc>Ttc p.L278F KPNA1_ENST00000466923.1_5'UTR NM_002264.3 NP_002255.3 P52294 IMA1_HUMAN karyopherin alpha 1 (importin alpha 5) 278 Binding to RAG1. DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle cytosol|nuclear pore|nucleoplasm nuclear localization sequence binding|protein binding|protein transporter activity NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 21 GBM - Glioblastoma multiforme(114;0.0898) AGATATGAGAGGGCCCAGCAG 0.433000 3 94 0 0 0.004672 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 3 90 0 0 0.021553 0 0 OLFML2B 25903 broad.mit.edu 37 1 161953593 161953593 + Missense_Mutation SNP C C T TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr1:161953593C>T ENST00000294794.3 - 8 2548 c.2125G>A c.(2125-2127)Gtc>Atc p.V709I OLFML2B_ENST00000367938.1_Missense_Mutation_p.V192I|OLFML2B_ENST00000367940.2_Missense_Mutation_p.V710I NM_015441.1 NP_056256.1 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B 709 Olfactomedin-like. breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) AGCCTGGGGACGATCTGTGTG 0.547000 7 565 0 0 0.038147 0 0 ZNF669 79862 broad.mit.edu 37 1 247267388 247267388 + Silent SNP C C A TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr1:247267388C>A ENST00000343381.6 - 1 286 c.114G>T c.(112-114)tcG>tcT p.S38S ZNF669_ENST00000366500.1_Intron|ZNF669_ENST00000448299.2_Intron|ZNF669_ENST00000358785.4_Silent_p.S38S|ZNF669_ENST00000366501.1_Intron NM_024804.2 NP_079080.2 Q96BR6 ZN669_HUMAN zinc finger protein 669 38 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(4)|large_intestine(2)|lung(6) 17 all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053) OV - Ovarian serous cystadenocarcinoma(106;0.00427) TACGCCACGGCGACTCGGTCC 0.701000 4 12 0.00024832 0.000266057 0.009096 1 0 KTI12 112970 broad.mit.edu 37 1 52499143 52499143 + Silent SNP C C A TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr1:52499143C>A ENST00000371614.1 - 1 345 c.291G>T c.(289-291)gcG>gcT p.A97A TXNDC12_ENST00000472624.1_Intron|RP11-91A18.4_ENST00000425802.1_RNA|TXNDC12_ENST00000371626.4_Intron NM_138417.2 NP_612426.1 Q96EK9 KTI12_HUMAN KTI12 homolog, chromatin associated (S. cerevisiae) 97 ATP binding central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1) 12 GGGTGCGCGCCGCCCGTGCCA 0.672000 4 157 0.0293803 0.0309267 0.029380 1 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 39 66 0 0 0.048971 0 0 SYNGR4 23546 broad.mit.edu 37 19 48869181 48869181 + Missense_Mutation SNP G G T TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr19:48869181G>T ENST00000344846.2 + 2 332 c.82G>T c.(82-84)Gtc>Ttc p.V28F NM_012451.3 NP_036583.2 O95473 SNG4_HUMAN synaptogyrin 4 28 MARVEL. integral to membrane breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1) 10 all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146) CATCACGCGGGTCTTCGAAGG 0.617000 41 52 1.48734e-19 1.6526e-19 0.045515 1 0 DMRTC2 63946 broad.mit.edu 37 19 42351650 42351650 + Missense_Mutation SNP G G A TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr19:42351650G>A ENST00000269945.3 + 2 205 c.154G>A c.(154-156)Gcc>Acc p.A52T DMRTC2_ENST00000602098.1_3'UTR|DMRTC2_ENST00000596827.1_Missense_Mutation_p.A52T NM_001040283.1 NP_001035373.1 Q8IXT2 DMRTD_HUMAN DMRT-like family C2 52 cell differentiation|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 10 TGGTGTCACCGCCCATCTCAA 0.617000 4 117 0 0 0.021553 0 0 OBSCN 84033 broad.mit.edu 37 1 228461984 228461984 + Nonsense_Mutation SNP G G A TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr1:228461984G>A ENST00000570156.2 + 23 6721 c.6647G>A c.(6646-6648)tGg>tAg p.W2216* RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000422127.1_Nonsense_Mutation_p.W1841*|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Nonsense_Mutation_p.W688*|OBSCN_ENST00000284548.11_Nonsense_Mutation_p.W1841*|OBSCN_ENST00000366707.4_5'UTR NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 1199 Ig-like 22. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GAGGTGGTGTGGCGCTGCGGC 0.692000 4 169 0 0 0.021553 0 0 RERGL 79785 broad.mit.edu 37 12 18237559 18237559 + Nonsense_Mutation SNP C C T TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr12:18237559C>T ENST00000229002.2 - 5 433 c.227G>A c.(226-228)tGg>tAg p.W76* RERGL_ENST00000541632.1_5'UTR|RERGL_ENST00000538724.1_Nonsense_Mutation_p.W75*|RERGL_ENST00000536890.1_Intron NM_024730.2 NP_079006.1 Q9H628 RERGL_HUMAN RERG/RAS-like 76 Small GTPase-like. signal transduction membrane GTP binding|GTPase activity endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 17 CCCATCTGCCCAGTGAAGCTC 0.398000 55 93 0 0 0.048971 0 0 TMCO2 127391 broad.mit.edu 37 1 40713708 40713709 + Frame_Shift_Del DEL TC TC - TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr1:40713708_40713709delTC ENST00000372766.3 + 1 136_137 c.43_44delTC c.(43-45)tfs p.S15fs TMCO2_ENST00000468258.1_Intron NM_001008740.3 NP_001008740.1 Q7Z6W1 TMCO2_HUMAN transmembrane and coiled-coil domains 2 15 integral to membrane kidney(1)|large_intestine(3)|lung(1)|ovary(1) 6 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;6.3e-18) CCTCTTAGAGTCTCTCTCTCTC 0.406 7 276 --- --- --- --- SEMA6C 10500 broad.mit.edu 37 1 151105171 151105171 + Frame_Shift_Del DEL G G - TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr1:151105171delG ENST00000341697.3 - 19 4273 c.2582delC c.(2581-2583)ctfs p.P861fs SEMA6C_ENST00000479820.1_Intron Q9H3T2 SEM6C_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C 861 integral to membrane receptor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 28 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) GAGCAGGGCAGGGGGGGCCCG 0.781 2 4 --- --- --- --- LEF1 51176 broad.mit.edu 37 4 109088756 109088756 + Frame_Shift_Del DEL G G - TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr4:109088756delG ENST00000379951.2 - 1 1356 c.168delC c.(166-168)tcfs p.S56fs LEF1_ENST00000265165.1_Frame_Shift_Del_p.S56fs|LEF1_ENST00000438313.2_Frame_Shift_Del_p.S56fs|LEF1-AS1_ENST00000436413.1_RNA NM_001130713.2|NM_001130714.2 NP_001124185.1|NP_001124186.1 Q9UJU2 LEF1_HUMAN lymphoid enhancer-binding factor 1 56 CTNNB1-binding (By similarity). canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation cytoplasm|protein-DNA complex|transcription factor complex armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1) 25 OV - Ovarian serous cystadenocarcinoma(123;0.000224) CGTTCACCAAGGAAGACTTGA 0.577 7 225 --- --- --- --- RP11-242J7.1 0 broad.mit.edu 37 4 185536410 185536413 + RNA DEL TTTG TTTG - rs146473442 TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr4:185536410_185536413delTTTG ENST00000522554.1 - 0 292 CAAAGCCGATtttgtttgtttgtt 0.451 5 8 --- --- --- --- MTMR12 54545 broad.mit.edu 37 5 32243628 32243630 + Splice_Site DEL TGA TGA - TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr5:32243628_32243630delTGA ENST00000382142.3 - 11 1267_1269 c.1100_splice c.e11+1 p.IR366_splice MTMR12_ENST00000280285.5_Splice_Site_p.IR366_splice|MTMR12_ENST00000264934.5_Splice_Site_p.IR366_splice NM_001040446.1 NP_001035536.1 Q9C0I1 MTMRC_HUMAN myotubularin related protein 12 366 Myotubularin phosphatase. cytoplasm phosphatase activity breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 TTGAAATACCTGATTATGTCAAG 0.315 19 95 --- --- --- --- CTB-43E15.2 0 broad.mit.edu 37 5 173126021 173126022 + RNA DEL CG CG - rs67218607 TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr5:173126021_173126022delCG ENST00000521373.1 + 0 95 cacacacacacGCGCGTGCGCG 0.569 3 3 --- --- --- --- HLA-DRB6 0 broad.mit.edu 37 6 32523362 32523363 + RNA INS - - GATA rs142676080 by1000genomes TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr6:32523362_32523363insGATA ENST00000411500.1 - 0 458 NR_001298.1 AAAGCAATGTGGATAAAGGGAC 0.431 2 4 --- --- --- --- TRGC1 0 broad.mit.edu 37 7 38301855 38301856 + RNA DEL GT GT - TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr7:38301855_38301856delGT ENST00000443402.2 - 0 330 NM_001003799.1|NM_001003806.1 NP_001003799.1|NP_001003806.1 TCAATTGTTCGTGTGTGTGTGT 0.356 7 186 --- --- --- --- FAM66B 0 broad.mit.edu 37 8 7196263 7196264 + RNA DEL AC AC - TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr8:7196263_7196264delAC ENST00000606573.1 - 0 703 ACTGAGGGGTacacacacacac 0.500 3 5 --- --- --- --- AP3M2 10947 broad.mit.edu 37 8 42015502 42015514 + Frame_Shift_Del DEL TAGTTGTGGTTTA TAGTTGTGGTTTA - TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr8:42015502_42015514delTAGTTGTGGTTTA ENST00000518421.1 + 4 608_620 c.317_329delTAGTTGTGGTTTA c.(316-330)gtfs p.VVVVY106fs AP3M2_ENST00000396926.3_Frame_Shift_Del_p.VVVVY106fs|AP3M2_ENST00000520685.1_Intron|AP3M2_ENST00000517922.1_Frame_Shift_Del_p.VVVVY106fs|AP3M2_ENST00000174653.3_Frame_Shift_Del_p.VVVVY106fs NM_001134296.1 NP_001127768.1 P53677 AP3M2_HUMAN adaptor-related protein complex 3, mu 2 subunit 106 intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|Golgi apparatus endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1) 17 all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983) BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024) AAAGACAATGTAGTTGTGGTTTATGAGGTATTG 0.376 17 196 --- --- --- --- ATAD2 29028 broad.mit.edu 37 8 124368685 124368685 + Frame_Shift_Del DEL A A - TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr8:124368685delA ENST00000287394.5 - 13 1697 c.1590delT c.(1588-1590)ttfs p.F530fs ATAD2_ENST00000521903.1_5'UTR NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 530 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) CAATTTCGTCAAAAAAAATAA 0.413 7 76 --- --- --- --- CLIP1 6249 broad.mit.edu 37 12 122812690 122812691 + Frame_Shift_Ins INS - - T TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr12:122812690_122812691insT ENST00000358808.2 - 16 3173_3174 c.3019_3020insA c.(3019-3021)ccafs p.P1007fs CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs|CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs NM_001247997.1|NM_002956.2 NP_001234926.1|NP_002947.1 P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 1018 mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) CTGGTTGTGGCTTGTTTCCATT 0.505 7 157 --- --- --- --- MIS18BP1 55320 broad.mit.edu 37 14 45716018 45716019 + Frame_Shift_Ins INS - - T TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr14:45716018_45716019insT ENST00000310806.4 - 2 929_930 c.471_472insA c.(469-474)aatgcafs p.NA157fs NM_018353.4 NP_060823.3 Q6P0N0 M18BP_HUMAN MIS18 binding protein 1 157 cell division|CenH3-containing nucleosome assembly at centromere|mitosis chromosome, centromeric region|nucleoplasm DNA binding p.K157fs*24(1) NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 39 GTATGCTGCAATTTTTTTTTTT 0.356 7 74 --- --- --- --- ARID3A 1820 broad.mit.edu 37 19 929631 929631 + Frame_Shift_Del DEL C C - TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr19:929631delC ENST00000263620.3 + 2 430 c.103delC c.(103-105)ccfs p.P36fs NM_005224.2 NP_005215.1 Q99856 ARI3A_HUMAN AT rich interactive domain 3A (BRIGHT-like) 36 P -> H (in dbSNP:rs17857499). cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1) 10 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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) CCCTGCTGCAccccccggccg 0.741 2 4 --- --- --- --- FRG1B 0 broad.mit.edu 37 20 29632612 29632614 + Splice_Site DEL AAG AAG - TCGA-EL-A3MZ-01A-11D-A21A-08 TCGA-EL-A3MZ-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8 9082f100-7dd2-49d3-898f-d4d0ec6d6c73 g.chr20:29632612_29632614delAAG ENST00000278882.3 + 8 807_809 c.425_splice c.e8-1 p.K144_splice FRG1B_ENST00000358464.4_Splice_Site_p.K144_splice endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TCTTTGCAGAAAGAAATTTCAGA 0.276 12 398 --- --- --- ---