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 PHYKPL 85007 broad.mit.edu 37 5 177651565 177651565 + Splice_Site SNP C C G TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr5:177651565C>G ENST00000308158.5 - 6 736 c.501_splice c.e6-1 p.A168_splice PHYKPL_ENST00000481811.1_Intron NM_153373.2 NP_699204.1 5-phosphohydroxy-L-lysine phospho-lyase GGGAGAGGTGCCTGTGGGGAG 0.622000 41 174 0 0 1 0 0 LCT 3938 broad.mit.edu 37 2 136567449 136567449 + Missense_Mutation SNP C C T TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr2:136567449C>T ENST00000264162.2 - 8 2478 c.2468G>A c.(2467-2469)aGc>aAc p.S823N NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 823 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) GCTGCTGTCGCTGAAGTTGAC 0.502000 24 649 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625961 29625961 + Missense_Mutation SNP C C A TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr20:29625961C>A ENST00000278882.3 + 5 585 c.205C>A c.(205-207)Caa>Aaa p.Q69K FRG1B_ENST00000358464.4_Missense_Mutation_p.Q69K|FRG1B_ENST00000439954.2_Missense_Mutation_p.Q74K p.Q69K(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ACCAAGAGAACAATGGGAACC 0.333000 7 433 1.99824e-07 2.09512e-07 1 1 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274416 39274416 + Missense_Mutation SNP C C T rs408579 by1000genomes TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr17:39274416C>T ENST00000391413.2 - 1 190 c.152G>A c.(151-153)aGg>aAg p.R51K NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 51 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. Missing (in allele KAP4.14). keratin filament p.R51K(1) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GCACTGGGGCCTGCAGCAGCT 0.672000 6 277 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109371498 109371498 + Silent SNP G G A TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr2:109371498G>A ENST00000283195.6 + 16 2466 c.2340G>A c.(2338-2340)ccG>ccA p.P780P NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 780 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 ATTCTACACCGTCTCCTACCA 0.353000 10 1402 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628282 29628282 + Missense_Mutation SNP G G A TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr20:29628282G>A ENST00000278882.3 + 6 664 c.284G>A c.(283-285)gGg>gAg p.G95E FRG1B_ENST00000358464.4_Missense_Mutation_p.G95E|FRG1B_ENST00000439954.2_Missense_Mutation_p.G100E endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AATGAAGCAGGGGACATAGAA 0.373000 5 505 0 0 1 0 0 ZNF585B 92285 broad.mit.edu 37 19 37677113 37677113 + Missense_Mutation SNP G G T TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr19:37677113G>T ENST00000532828.2 - 5 1577 c.1326C>A c.(1324-1326)caC>caA p.H442Q ZNF585B_ENST00000531805.1_Missense_Mutation_p.H387Q|ZNF585B_ENST00000312908.5_Missense_Mutation_p.H30Q|ZNF585B_ENST00000527838.1_3'UTR|CTC-454I21.3_ENST00000585860.2_Intron NM_152279.3 NP_689492.3 Q52M93 Z585B_HUMAN zinc finger protein 585B 442 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ATTTCCCACAGTGACCACATT 0.393000 105 548 4.10028e-47 4.40589e-47 1 1 0 TNXB 7148 broad.mit.edu 37 6 32023635 32023635 + Silent SNP A A G TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr6:32023635A>G ENST00000375244.3 - 24 8661 c.8460T>C c.(8458-8460)ggT>ggC p.G2820G TNXB_ENST00000375247.2_Silent_p.G2820G P22105 TENX_HUMAN tenascin XB 2878 Fibronectin type-III 20. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding p.G2820G(1)|p.G2907G(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 CACCTGTCACACCCACGGTGG 0.582000 6 279 0 0 1 0 0 SEMA4C 54910 broad.mit.edu 37 2 97527143 97527143 + Silent SNP C C T TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr2:97527143C>T ENST00000305476.5 - 15 1854 c.1722G>A c.(1720-1722)gtG>gtA p.V574V NM_017789.4 NP_060259.4 Q9C0C4 SEM4C_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C 574 Ig-like C2-type. muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane receptor activity NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 17 GGCAGGGCAGCACCAGGTCTG 0.627000 25 174 0 0 1 0 0 ARHGAP28 79822 broad.mit.edu 37 18 6859874 6859874 + Missense_Mutation SNP C C T TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr18:6859874C>T ENST00000419673.2 + 4 444 c.227C>T c.(226-228)gCg>gTg p.A76V ARHGAP28_ENST00000400091.2_Missense_Mutation_p.A235V|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.A58V|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.A71V|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.A183V|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.A76V|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.A76V|ARHGAP28_ENST00000383472.4_Missense_Mutation_p.A235V NM_001010000.2 NP_001010000.1 B4DXL2 B4DXL2_HUMAN Rho GTPase activating protein 28 58 signal transduction intracellular breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 37 Colorectal(10;0.168) GGGAGTTTTGCGGTTCCCAGG 0.433000 6 585 0 0 1 0 0 GNL3 26354 broad.mit.edu 37 3 52728222 52728222 + Silent SNP A A G TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr3:52728222A>G ENST00000394799.2 + 15 1755 c.1545A>G c.(1543-1545)acA>acG p.T515T GNL3_ENST00000418458.1_Silent_p.T527T NM_206825.1 NP_996561.1 Q9BVP2 GNL3_HUMAN guanine nucleotide binding protein-like 3 (nucleolar) 527 Acidic (By similarity). regulation of cell proliferation nucleolus GTP binding|protein binding breast(4)|endometrium(3)|large_intestine(3)|lung(2) 12 BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048) AACAGTCTACAAGGTCTTTTA 0.333000 41 230 0 0 1 0 0 NUP210 23225 broad.mit.edu 37 3 13401880 13401880 + Missense_Mutation SNP C C T rs149471357 TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr3:13401880C>T ENST00000254508.5 - 15 2126 c.2044G>A c.(2044-2046)Gtc>Atc p.V682I NM_024923.2 NP_079199.2 Q8TEM1 PO210_HUMAN nucleoporin 210kDa 682 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) TCAGCGGTGACGTTCTGGAAG 0.557000 4 139 0 0 1 0 0 ZC3H11A 9877 broad.mit.edu 37 1 203821508 203821508 + Nonsense_Mutation SNP C C G TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr1:203821508C>G ENST00000545588.1 + 17 6241 c.2414C>G c.(2413-2415)tCa>tGa p.S805* ZC3H11A_ENST00000332127.4_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367214.1_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367210.1_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367212.3_Nonsense_Mutation_p.S805* NM_001271675.1 NP_001258604.1 O75152 ZC11A_HUMAN zinc finger CCCH-type containing 11A 805 nucleic acid binding|protein binding|zinc ion binding p.S805*(3) central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(21;0.0904)|all_epithelial(62;0.234) BRCA - Breast invasive adenocarcinoma(75;0.109) CTTGAGCTATCAGAAATGATT 0.378000 5 281 0 0 1 0 0 RP11-1407O15.2 0 broad.mit.edu 37 17 36358981 36358981 + Missense_Mutation SNP C C T TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr17:36358981C>T ENST00000312412.4 - 6 709 c.710G>A c.(709-711)cGc>cAc p.R237H RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.R82H kidney(1)|lung(3) 4 AACAGGTGTGCGGGCAAACTT 0.353000 8 1148 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522815 95522815 + RNA SNP A A G TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr2:95522815A>G ENST00000432432.2 - 0 212 NR_040113.1 ATCTTCTGCAATTCGGAGTCC 0.652000 5 327 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37430948 37430948 + Missense_Mutation SNP C C G TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr10:37430948C>G ENST00000374660.1 + 7 1054 c.955C>G c.(955-957)Cca>Gca p.P319A ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P319A|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.P319A Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 375 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 ATTTACGTGGCCAGCAAAAGG 0.423000 5 549 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a 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 9 651 0 0 1 0 0 UGT2B15 7366 broad.mit.edu 37 4 69533868 69533868 + Missense_Mutation SNP C C G TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr4:69533868C>G ENST00000338206.5 - 2 772 c.763G>C c.(763-765)Gaa>Caa p.E255Q NM_001076.3 NP_001067.2 P54855 UDB15_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B15 255 steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity AGCCACATTTCAGCTTTCCCC 0.378000 6 564 0 0 1 0 0 PRX 57716 broad.mit.edu 37 19 40901352 40901352 + Silent SNP A A G TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr19:40901352A>G ENST00000324001.7 - 7 3177 c.2907T>C c.(2905-2907)gcT>gcC p.A969A PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 969 axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) CCCCCACCCGAGCCTTGGGGA 0.642000 22 437 0 0 1 0 0 ZNF582 147948 broad.mit.edu 37 19 56901800 56901800 + Missense_Mutation SNP T T G TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr19:56901800T>G ENST00000301310.4 - 3 238 c.80A>C c.(79-81)cAg>cCg p.Q27P ZNF582_ENST00000586929.1_Missense_Mutation_p.Q27P NM_144690.1 NP_653291.1 Q96NG8 ZN582_HUMAN zinc finger protein 582 27 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0547) CAAATCCCTCTGAGCAGGTGC 0.483000 83 402 0 0 1 0 0 ABCC6 368 broad.mit.edu 37 16 16248786 16248786 + Missense_Mutation SNP G G C TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr16:16248786G>C ENST00000205557.7 - 28 4014 c.3985C>G c.(3985-3987)Ccc>Gcc p.P1329A NM_001171.5 NP_001162.4 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 6 1329 ABC transporter 2. response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) TGGGCAATGGGGACCCCGTCG 0.677000 8 66 0 0 1 0 0 DHRS4 10901 broad.mit.edu 37 14 24424420 24424420 + Splice_Site SNP C C T TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr14:24424420C>T ENST00000313250.5 + 2 508 c.306_splice c.e2+1 p.T102_splice DHRS4_ENST00000397073.2_Splice_Site_p.T84_splice|DHRS4_ENST00000543741.2_Splice_Site_p.T102_splice|DHRS4_ENST00000397074.3_Splice_Site_p.T102_splice|DHRS4_ENST00000397075.3_Splice_Site_p.T102_splice|DHRS4_ENST00000559632.1_Splice_Site_p.T102_splice|DHRS4_ENST00000382761.3_Splice_Site_p.T84_splice|DHRS4_ENST00000308178.8_Splice_Site_p.T84_splice|DHRS4_ENST00000421831.1_Splice_Site_p.T84_splice|DHRS4_ENST00000558581.1_Splice_Site_p.T102_splice|DHRS4_ENST00000558263.1_Splice_Site_p.T102_splice NM_021004.2 NP_066284.2 Q9BTZ2 DHRS4_HUMAN dehydrogenase/reductase (SDR family) member 4 102 T -> M (in Ref. 1; AAD02292). mitochondrion|nuclear membrane|peroxisome binding|carbonyl reductase (NADPH) activity p.T102M(4) central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 GBM - Glioblastoma multiforme(265;0.00962) Vitamin A(DB00162) CTGGTGGCCACGGTGAGCTGC 0.652000 4 100 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170090020 170090020 + Nonsense_Mutation SNP G G A TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr2:170090020G>A ENST00000263816.3 - 30 5284 c.4999C>T c.(4999-5001)Cga>Tga p.R1667* NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 1667 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TTGTTGGCTCGCATAACCCGA 0.478000 5 323 0 0 1 0 0 RNF43 54894 broad.mit.edu 37 17 56492875 56492875 + Nonsense_Mutation SNP G G A TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr17:56492875G>A ENST00000584437.1 - 1 2019 c.64C>T c.(64-66)Cag>Tag p.Q22* RNF43_ENST00000583753.1_Nonsense_Mutation_p.Q22*|RNF43_ENST00000581868.1_Intron|RNF43_ENST00000500597.2_Nonsense_Mutation_p.Q22*|RNF43_ENST00000407977.2_Nonsense_Mutation_p.Q22*|RNF43_ENST00000577716.1_Nonsense_Mutation_p.Q22*|BZRAP1-AS1_ENST00000583841.1_RNA Q68DV7 RNF43_HUMAN ring finger protein 43 22 endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding p.Q22*(1) NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4) 60 Medulloblastoma(34;0.127)|all_neural(34;0.237) AAGCCTGCCTGCAGGGTAGCC 0.552000 48 167 0 0 1 0 0 TUBGCP6 85378 broad.mit.edu 37 22 50659212 50659212 + Silent SNP A A G rs141527317 TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr22:50659212A>G ENST00000439308.2 - 16 4068 c.3576T>C c.(3574-3576)tcT>tcC p.S1192S TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000248846.5_Silent_p.S1192S NM_020461.3 NP_065194.2 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 1192 9 X 27 AA tandem repeats. G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2) 45 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) TGCTGGCATCAGACACGTGTC 0.617000 6 334 0 0 1 0 0 KRT17 3872 broad.mit.edu 37 17 39780381 39780381 + Silent SNP G G A TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr17:39780381G>A ENST00000311208.8 - 1 448 c.381C>T c.(379-381)ccC>ccT p.P127P JUP_ENST00000540235.1_Intron NM_000422.2 NP_000413.1 Q04695 K1C17_HUMAN keratin 17 127 Linker 1.|Rod. epidermis development cytoplasm|intermediate filament protein binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1) 12 Breast(137;0.000307) AGTCACGGGCGGGCCCCGGGG 0.642000 6 808 0 0 1 0 0 CEACAM3 1084 broad.mit.edu 37 19 42301736 42301736 + Missense_Mutation SNP G G A TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr19:42301736G>A ENST00000357396.3 + 2 521 c.280G>A c.(280-282)Gca>Aca p.A94T CEACAM3_ENST00000344550.4_Missense_Mutation_p.A94T|CEACAM3_ENST00000221999.4_Missense_Mutation_p.A94T|CEACAM3_ENST00000595255.1_3'UTR NM_001815.2 NP_001806.2 P40198 CEAM3_HUMAN carcinoembryonic antigen-related cell adhesion molecule 3 94 Ig-like V-type. integral to membrane p.A94T(1) endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1) 19 CCCAGGGGCCGCATACAGCGG 0.463000 6 876 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C G rs121913530 TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr12:25398285C>G ENST00000311936.3 - 2 225 c.34G>C c.(34-36)Ggt>Cgt p.G12R KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348000 G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 28 162 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 6 265 0 0 1 0 0 NEK4 6787 broad.mit.edu 37 3 52778267 52778267 + Missense_Mutation SNP T T C TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr3:52778267T>C ENST00000233027.5 - 11 2084 c.1882A>G c.(1882-1884)Atg>Gtg p.M628V NEK4_ENST00000535191.1_Missense_Mutation_p.M539V|NEK4_ENST00000383721.4_Missense_Mutation_p.M582V NM_001193533.1|NM_003157.4 NP_001180462.1|NP_003148.2 P51957 NEK4_HUMAN NIMA-related kinase 4 628 cell division|mitosis nucleus ATP binding|metal ion binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10) 26 BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513) GAAGAGGACATTTCTTCCTGT 0.418000 170 713 0 0 1 0 0 ABHD6 57406 broad.mit.edu 37 3 58270837 58270837 + Missense_Mutation SNP G G A TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr3:58270837G>A ENST00000478253.1 + 8 1208 c.707G>A c.(706-708)cGc>cAc p.R236H ABHD6_ENST00000295962.4_Missense_Mutation_p.R236H Q9BV23 ABHD6_HUMAN abhydrolase domain containing 6 236 integral to membrane acylglycerol lipase activity p.R236H(1) NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1) 16 BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209) GTCGATGTCCGCATCCCTCAT 0.443000 5 506 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628261 29628261 + Missense_Mutation SNP T T C rs111331725 by1000genomes TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr20:29628261T>C ENST00000278882.3 + 6 643 c.263T>C c.(262-264)tTt>tCt p.F88S FRG1B_ENST00000358464.4_Missense_Mutation_p.F88S|FRG1B_ENST00000439954.2_Missense_Mutation_p.F93S endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AATAGCTGCTTTATTAGATGC 0.363000 40 592 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78212571 78212571 + RNA SNP G G A TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr15:78212571G>A ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CCTGTGTCACGTGTGCGTTCA 0.572000 6 174 0 0 1 0 0 ZNF92 168374 broad.mit.edu 37 7 64864143 64864143 + Missense_Mutation SNP T T A TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr7:64864143T>A ENST00000328747.7 + 4 1315 c.1116T>A c.(1114-1116)gaT>gaA p.D372E ZNF92_ENST00000450302.2_Missense_Mutation_p.D303E|ZNF92_ENST00000431504.1_Missense_Mutation_p.D296E|ZNF92_ENST00000357512.2_Missense_Mutation_p.D340E NM_152626.2 NP_689839.1 Q03936 ZNF92_HUMAN zinc finger protein 92 372 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1) 13 Lung NSC(55;0.159) ACAAATGTGATGAATGTGGCA 0.368000 5 402 0 0 1 0 0 ZNF844 284391 broad.mit.edu 37 19 12187275 12187275 + Missense_Mutation SNP G G C TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr19:12187275G>C ENST00000439326.3 + 4 1515 c.1340G>C c.(1339-1341)cGt>cCt p.R447P ZNF844_ENST00000441304.2_3'UTR NM_001136501.1 NP_001129973.1 Q08AG5 ZN844_HUMAN zinc finger protein 844 447 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R447P(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1) 10 GAGAGAAACCGTATGAGTGTA 0.433000 6 407 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628299 29628299 + Missense_Mutation SNP A A G TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr20:29628299A>G ENST00000278882.3 + 6 681 c.301A>G c.(301-303)Agt>Ggt p.S101G FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AGAAGCAAAAAGTAAAACAGC 0.363000 5 412 0 0 1 0 0 GOLGA6L5 0 broad.mit.edu 37 15 85053124 85053124 + RNA SNP G G T TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr15:85053124G>T ENST00000414190.2 - 0 328 NR_003246.2 TAAATGTTTTGTTTTTTTTTT 0.353000 3 29 0.00448238 0.00448238 1 1 0 ARNTL 406 broad.mit.edu 37 11 13378443 13378443 + Silent SNP C C T TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr11:13378443C>T ENST00000403482.3 + 1 19 c.15C>T c.(13-15)gcC>gcT p.A5A ARNTL_ENST00000389708.3_Intron|ARNTL_ENST00000403290.1_Intron|ARNTL_ENST00000401424.1_Intron|ARNTL_ENST00000389707.4_Intron|ARNTL_ENST00000361003.4_Intron|ARNTL_ENST00000396441.3_Intron|ARNTL_ENST00000403510.3_Intron O00327 BMAL1_HUMAN aryl hydrocarbon receptor nuclear translocator-like 0 circadian rhythm|positive regulation of transcription from RNA polymerase II promoter transcription factor complex aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1) 20 Epithelial(150;0.0243) GCAAGGAGGCCGTGAGCCTGT 0.507000 13 31 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56477724 56477724 + Missense_Mutation SNP C C T TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr19:56477724C>T ENST00000291971.3 + 5 2430 c.2359C>T c.(2359-2361)Cgg>Tgg p.R787W NLRP8_ENST00000590542.1_Missense_Mutation_p.R787W NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 787 cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) GAGATCCCCCCGGTGCCGTCT 0.542000 49 255 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11058322 11058322 + RNA SNP C C T TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr21:11058322C>T ENST00000470054.1 - 0 325 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) AAATGCACATCGCTGAAAGGG 0.383000 17 669 0 0 1 0 0 NOTCH2NL 388677 broad.mit.edu 37 1 145281517 145281517 + Silent SNP T T C TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr1:145281517T>C ENST00000369340.3 + 5 891 c.447T>C c.(445-447)atT>atC p.I149I NOTCH2NL_ENST00000344859.3_Silent_p.I149I|NOTCH2NL_ENST00000362074.6_Silent_p.I149I|RP11-458D21.5_ENST00000468030.1_Silent_p.I149I Q7Z3S9 NT2NL_HUMAN notch 2 N-terminal like 149 EGF-like 5; calcium-binding (Potential). cell differentiation|multicellular organismal development|Notch signaling pathway cytoplasm|extracellular region calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 27 AGTGTGACATTCCAGGACACT 0.552000 87 1220 0 0 1 0 0 PARP4 143 broad.mit.edu 37 13 25043223 25043223 + Missense_Mutation SNP T T C TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr13:25043223T>C ENST00000381989.3 - 17 2177 c.2072A>G c.(2071-2073)cAa>cGa p.Q691R NM_006437.3 NP_006428.2 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 691 VIT. cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) TAGGTACTCTTGCTGGGCTTC 0.463000 7 327 0 0 1 0 0 HLCS 3141 broad.mit.edu 37 21 38269242 38269242 + Missense_Mutation SNP G G A TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr21:38269242G>A ENST00000399120.1 - 7 2599 c.1369C>T c.(1369-1371)Cgc>Tgc p.R457C HLCS_ENST00000482273.1_5'UTR|HLCS_ENST00000336648.3_Missense_Mutation_p.R457C NM_001242784.1 NP_001229713.1 P50747 BPL1_HUMAN holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) 457 cell proliferation|histone biotinylation|response to biotin chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(46;0.0422) Biotin(DB00121) AGATTTTGGCGATAGATCTCT 0.468000 66 290 0 0 1 0 0 TBC1D19 55296 broad.mit.edu 37 4 26756566 26756566 + Silent SNP C C G TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr4:26756566C>G ENST00000264866.4 + 21 1856 c.1578C>G c.(1576-1578)acC>acG p.T526T TBC1D19_ENST00000511789.1_Silent_p.T461T NM_018317.2 NP_060787.2 Q8N5T2 TBC19_HUMAN TBC1 domain family, member 19 526 intracellular Rab GTPase activator activity breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 17 Breast(46;0.0503) CTACTGTCACCTGATCTTCTT 0.323000 48 270 0 0 1 0 0 ZNF709 163051 broad.mit.edu 37 19 12575498 12575498 + Missense_Mutation SNP G G A TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr19:12575498G>A ENST00000397732.3 - 4 1409 c.1238C>T c.(1237-1239)aCt>aTt p.T413I ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I|CTD-3105H18.18_ENST00000598753.1_Intron NM_152601.3 NP_689814.1 Q8N972 ZN709_HUMAN zinc finger protein 709 413 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.T413I(2) large_intestine(3)|upper_aerodigestive_tract(3) 6 TCCAGTGTGAGTTCTTTCATG 0.418000 8 697 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1263793 1263793 + Missense_Mutation SNP G G A TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr11:1263793G>A ENST00000447027.1 + 31 5750 c.5692G>A c.(5692-5694)Gcc>Acc p.A1898T RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.A1895T Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 1895 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CAGCTCCACGGCCACGCCCTC 0.617000 5 504 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21730847 21730847 + Missense_Mutation SNP G G T TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr17:21730847G>T ENST00000584755.1 + 2 546 c.149G>T c.(148-150)cGg>cTg p.R50L UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R50L endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GGCAAGCAGCGGGAAGATGGC 0.522000 4 178 5.9392e-07 6.15258e-07 1 1 0 PAH 5053 broad.mit.edu 37 12 103306580 103306580 + Missense_Mutation SNP G G A TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr12:103306580G>A ENST00000553106.1 - 2 629 c.157C>T c.(157-159)Cgc>Tgc p.R53C PAH_ENST00000307000.2_Missense_Mutation_p.R48C|PAH_ENST00000551988.1_5'UTR NM_000277.1 NP_000268.1 P00439 PH4H_HUMAN phenylalanine hydroxylase 53 ACT. R -> H (in PKU). catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process cytosol phenylalanine 4-monooxygenase activity endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1) 27 Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360) TCAAATAAGCGCAATACTTTG 0.383000 10 388 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593025 96593025 + Missense_Mutation SNP C C T rs75189823 by1000genomes TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr2:96593025C>T ENST00000456556.1 - 28 1960 c.1876G>A c.(1876-1878)Gat>Aat p.D626N ankyrin repeat domain 36C p.D626N(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TCTTTCTCATCACTTGTAGCC 0.318000 17 232 0 0 1 0 0 DISP1 84976 broad.mit.edu 37 1 223176649 223176649 + Missense_Mutation SNP C C T rs148231227 by1000genomes TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr1:223176649C>T ENST00000284476.6 + 8 2074 c.1910C>T c.(1909-1911)gCg>gTg p.A637V NM_032890.3 NP_116279.2 Q96F81 DISP1_HUMAN dispatched homolog 1 (Drosophila) 637 SSD. diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity p.A637V(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5) 69 GBM - Glioblastoma multiforme(131;0.102) GGGGTTTATGCGGGGACAGCT 0.448000 6 833 0 0 1 0 0 PCDHA10 0 broad.mit.edu 37 5 140237249 140237249 + Missense_Mutation SNP G G C TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr5:140237249G>C ENST00000307360.5 + 1 1616 c.1616G>C c.(1615-1617)gGg>gCg p.G539A PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 p.G539A(2) NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGCGCGATGGGGGCGTGCCG 0.687000 11 499 0 0 1 0 0 PCDHB7 0 broad.mit.edu 37 5 140554552 140554552 + Missense_Mutation SNP C C G TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr5:140554552C>G ENST00000231137.3 + 1 2310 c.2136C>G c.(2134-2136)tgC>tgG p.C712W NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 712 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGCGGCTGTGCAGGAGGAGCA 0.672000 88 536 0 0 1 0 0 ZSCAN25 221785 broad.mit.edu 37 7 99219001 99219001 + Silent SNP A A T TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr7:99219001A>T ENST00000394152.2 + 5 720 c.393A>T c.(391-393)ccA>ccT p.P131P ZSCAN25_ENST00000466948.1_3'UTR|ZSCAN25_ENST00000334715.3_Silent_p.P131P|ZSCAN25_ENST00000262941.6_Silent_p.P131P NM_145115.2 NP_660090.2 zinc finger and SCAN domain containing 25 CTTAGGTTCCATGCCACAGGC 0.522000 36 365 0 0 1 0 0 KRTAP10-2 386679 broad.mit.edu 37 21 45970917 45970917 + Missense_Mutation SNP A A G TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr21:45970917A>G ENST00000391621.1 - 1 471 c.425T>C c.(424-426)gTg>gCg p.V142A KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron NM_198693.2 NP_941966.1 P60368 KR102_HUMAN keratin associated protein 10-2 142 22 X 5 AA repeats of C-C-X(3). keratin filament large_intestine(1)|lung(4)|skin(1) 6 GCAGACAGGCACACGGCAGGA 0.622000 15 526 0 0 1 0 0 DNAH1 25981 broad.mit.edu 37 3 52388864 52388864 + Silent SNP G G A TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr3:52388864G>A ENST00000420323.2 + 21 3747 c.3486G>A c.(3484-3486)ctG>ctA p.L1162L NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 1162 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CCCAGGCACTGGACAAGATGG 0.612000 27 119 0 0 1 0 0 TSSC2 0 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 5 156 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78211548 78211548 + RNA SNP T T C TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr15:78211548T>C ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CCACCTGGGATTGGAGCTTTC 0.562000 5 550 0 0 1 0 0 ZNF823 55552 broad.mit.edu 37 19 11833554 11833554 + Silent SNP T T C TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr19:11833554T>C ENST00000341191.6 - 4 948 c.795A>G c.(793-795)agA>agG p.R265R ZNF823_ENST00000545749.1_Silent_p.R83R NM_001080493.2 NP_001073962.1 P16415 ZN823_HUMAN zinc finger protein 823 265 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4) 26 TTCTCTCATGTCTTAGATAGG 0.418000 HNSCC(68;0.2) 46 264 0 0 1 0 0 SEMG1 6406 broad.mit.edu 37 20 43836817 43836817 + Silent SNP A A G rs17850164 TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr20:43836817A>G ENST00000372781.3 + 2 936 c.879A>G c.(877-879)acA>acG p.T293T SEMG1_ENST00000244069.6_Intron NM_003007.3 NP_002998.1 semenogelin I p.T293T(2) cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.0122) CTTCAAGTACAGAAGAAAGAC 0.383000 7 324 0 0 1 0 0 ZNF761 388561 broad.mit.edu 37 19 53945909 53945909 + RNA SNP T T C rs28727441 by1000genomes TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr19:53945909T>C ENST00000454407.1 + 0 55 TPM3P9_ENST00000424846.3_RNA Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) ACCCTGACTCTGCCTGAGGCC 0.562000 12 230 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18846098 18846098 + RNA SNP G G A rs9306211 TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr22:18846098G>A ENST00000412938.1 + 0 3456 ATGCCTCGGCGCTCGATCTCC 0.622000 10 246 0 0 1 0 0 ACTB 60 broad.mit.edu 37 7 5567750 5567750 + Missense_Mutation SNP C C T TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr7:5567750C>T ENST00000331789.5 - 5 1060 c.869G>A c.(868-870)cGc>cAc p.R290H AC006483.1_ENST00000579427.1_RNA NM_001101.3 NP_001092.1 P60709 ACTB_HUMAN actin, beta 290 'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2) 8 Ovarian(82;0.0606) UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37) CAGGTCTTTGCGGATGTCCAC 0.562000 6 732 0 0 1 0 0 NT5C1B 93034 broad.mit.edu 37 2 18767583 18767583 + Silent SNP G G A TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr2:18767583G>A ENST00000304081.4 - 3 295 c.195C>T c.(193-195)tcC>tcT p.S65S NT5C1B_ENST00000460052.1_5'UTR|NT5C1B_ENST00000359846.2_Silent_p.S125S|NT5C1B_ENST00000600945.1_Silent_p.S125S|NT5C1B-RDH14_ENST00000532967.1_Silent_p.S125S NM_033253.3 NP_150278.2 5'-nucleotidase, cytosolic IB endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) Ovarian(717;0.208) ATGGGCTCCGGGATATTCTAG 0.488000 5 368 0 0 1 0 0 UGT2B10 7365 broad.mit.edu 37 4 69683833 69683833 + Missense_Mutation SNP T T C TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr4:69683833T>C ENST00000265403.7 + 2 832 c.805T>C c.(805-807)Ttc>Ctc p.F269L UGT2B10_ENST00000458688.2_Missense_Mutation_p.F185L NM_001075.4 NP_001066.1 P36537 UDB10_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B10 269 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 29 TCCTCATCCATTCTTACCAAA 0.388000 6 828 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162620 90162620 + RNA SNP T T G TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr16:90162620T>G ENST00000564451.1 + 0 1973 CTAGGTAAAGTGGGGAAGCAG 0.483000 7 581 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51921495 51921495 + Splice_Site SNP C C T TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr6:51921495C>T ENST00000371117.3 - 18 1969 c.e18+1 PKHD1_ENST00000340994.4_Splice_Site NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) ACGGACAGCACCTCGTTCAAA 0.403000 66 356 0 0 1 0 0 AKT3 10000 broad.mit.edu 37 1 243778456 243778456 + Missense_Mutation SNP A A G TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr1:243778456A>G ENST00000366539.1 - 7 769 c.569T>C c.(568-570)gTg>gCg p.V190A AKT3_ENST00000336199.5_Missense_Mutation_p.V190A|AKT3_ENST00000263826.5_Missense_Mutation_p.V190A|AKT3_ENST00000366540.1_Missense_Mutation_p.V190A Q9Y243 AKT3_HUMAN v-akt murine thymoma viral oncogene homolog 3 190 Protein kinase. signal transduction Golgi apparatus|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1) 26 all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168) all_cancers(173;0.0274) all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196) AGTGTGTGCCACTTCATCCTA 0.328000 11 255 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105416584 105416584 + Missense_Mutation SNP G G A TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr14:105416584G>A ENST00000333244.5 - 7 5323 c.5204C>T c.(5203-5205)gCc>gTc p.A1735V AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1735 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TTTGAAGCCGGCTCCCTCGGG 0.632000 7 892 0 0 1 0 0 WASH3P 0 broad.mit.edu 37 15 102515299 102515299 + RNA SNP G G A TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr15:102515299G>A ENST00000557932.1 + 0 1145 p.G374S(10) central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 TGGGGGCATCGGCAAGGCCAA 0.652000 7 47 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16952896 16952896 + RNA SNP G G A rs1762945 by1000genomes TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr1:16952896G>A ENST00000412962.1 - 0 720 CAAGGCTCTCGTTGAGGGCGC 0.637000 60 387 0 0 1 0 0 SCAF1 58506 broad.mit.edu 37 19 50154632 50154632 + Missense_Mutation SNP C C T TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr19:50154632C>T ENST00000360565.3 + 7 1110 c.986C>T c.(985-987)cCg>cTg p.P329L NM_021228.2 NP_067051.2 Q9H7N4 SFR19_HUMAN SR-related CTD-associated factor 1 329 mRNA processing|RNA splicing nucleus RNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 20 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204) CCCACACAGCCGACTCCCGCC 0.701000 27 89 0 0 1 0 0 MARCH8 220972 broad.mit.edu 37 10 45954652 45954652 + Missense_Mutation SNP C C T TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr10:45954652C>T ENST00000453424.2 - 7 1594 c.1333G>A c.(1333-1335)Gtc>Atc p.V445I MARCH8_ENST00000319836.3_Missense_Mutation_p.V163I|MARCH8_ENST00000395771.3_Missense_Mutation_p.V163I|MARCH8_ENST00000395769.2_Missense_Mutation_p.V163I|MARCH8_ENST00000476962.1_5'UTR Q5T0T0 MARH8_HUMAN membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase 163 cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(5)|lung(4) 12 ATGGCAATGACGTGGAATGTC 0.527000 105 316 0 0 1 0 0 RP11-3P17.4 0 broad.mit.edu 37 3 161146937 161146937 + RNA SNP G G A TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr3:161146937G>A ENST00000473595.1 + 0 1231 RP11-3P17.5_ENST00000602890.1_lincRNA NR_102265.1 AATTTTGTTGGCAACATCCAA 0.378000 8 365 0 0 1 0 0 TXNDC2 0 broad.mit.edu 37 18 9886894 9886894 + Missense_Mutation SNP A A G rs146821851 TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr18:9886894A>G ENST00000306084.6 + 2 617 c.418A>G c.(418-420)Aaa>Gaa p.K140E TXNDC2_ENST00000584255.1_3'UTR|TXNDC2_ENST00000536353.2_Missense_Mutation_p.K73E|TXNDC2_ENST00000357775.4_Missense_Mutation_p.K73E|TXNDC2_ENST00000426718.3_3'UTR NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 140 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity p.K140E(2)|p.K73E(2) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 GTCCTCAGAAAAAGCCATCCA 0.547000 6 610 0 0 1 0 0 HVCN1 84329 broad.mit.edu 37 12 111121035 111121035 + Missense_Mutation SNP C C T rs147424254 TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr12:111121035C>T ENST00000356742.5 - 2 769 c.16G>A c.(16-18)Gaa>Aaa p.E6K HVCN1_ENST00000439744.2_Intron|HVCN1_ENST00000242607.8_Missense_Mutation_p.E6K|HVCN1_ENST00000548312.1_Missense_Mutation_p.E6K Q96D96 HVCN1_HUMAN hydrogen voltage-gated channel 1 6 response to pH|response to zinc ion integral to membrane voltage-gated proton channel activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 19 ATTACCTTTTCGTCCCAGGTG 0.458000 136 610 0 0 1 0 0 IRS2 8660 broad.mit.edu 37 13 110434606 110434606 + Silent SNP T T G TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr13:110434606T>G ENST00000375856.3 - 1 4309 c.3795A>C c.(3793-3795)ccA>ccC p.P1265P NM_003749.2 NP_003740.2 Q9Y4H2 IRS2_HUMAN insulin receptor substrate 2 1265 Poly-Pro. fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus cytosol|plasma membrane insulin receptor binding|signal transducer activity kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 19 all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155) Breast(118;0.159) all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147) gcggctggggtggcagcCCGG 0.701000 8 82 0 0 1 0 0 DYNC1I1 1780 broad.mit.edu 37 7 95442629 95442629 + Silent SNP C C T rs145885345 TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr7:95442629C>T ENST00000324972.6 + 4 538 c.345C>T c.(343-345)ggC>ggT p.G115G DYNC1I1_ENST00000413338.1_Silent_p.G98G|DYNC1I1_ENST00000457059.1_Silent_p.G98G|DYNC1I1_ENST00000359388.4_Silent_p.G98G|DYNC1I1_ENST00000447467.2_Silent_p.G98G|DYNC1I1_ENST00000537881.1_Silent_p.G98G|DYNC1I1_ENST00000437599.1_Silent_p.G115G NM_004411.4 NP_004402.1 O14576 DC1I1_HUMAN dynein, cytoplasmic 1, intermediate chain 1 115 Interaction with DCTN1 (By similarity). vesicle transport along microtubule condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle microtubule binding|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 54 all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191) STAD - Stomach adenocarcinoma(171;0.0957) AAGACTCAGGCGATCTGGGGC 0.423000 51 226 0 0 1 0 0 FGF8 2253 broad.mit.edu 37 10 103534555 103534555 + Missense_Mutation SNP C C T TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr10:103534555C>T ENST00000347978.2 - 3 353 c.184G>A c.(184-186)Ggg>Agg p.G62R FGF8_ENST00000485728.1_5'UTR|FGF8_ENST00000320185.2_Missense_Mutation_p.G91R|FGF8_ENST00000344255.3_Missense_Mutation_p.G80R|FGF8_ENST00000346714.3_Missense_Mutation_p.G51R NM_006119.4 NP_006110.1 P55075 FGF8_HUMAN fibroblast growth factor 8 (androgen-induced) 80 bone development|dopaminergic neuron differentiation|fibroblast growth factor receptor signaling pathway|gastrulation|gonad development|insulin receptor signaling pathway|mesonephros development|metanephros development|negative regulation of cardiac muscle tissue development|neuroepithelial cell differentiation|odontogenesis|positive regulation of cell division|positive regulation of cell proliferation extracellular region|extracellular space growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(2) 5 Colorectal(252;0.122) Epithelial(162;3.94e-09)|all cancers(201;2.13e-07) ACGTGCTTCCCGCTGGTGCGG 0.617000 5 188 0 0 1 0 0 INPP5B 3633 broad.mit.edu 37 1 38354008 38354008 + Missense_Mutation SNP G G A TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr1:38354008G>A ENST00000373023.2 - 10 1139 c.1046C>T c.(1045-1047)gCg>gTg p.A349V INPP5B_ENST00000458109.2_Missense_Mutation_p.A32V|INPP5B_ENST00000373027.1_Missense_Mutation_p.A105V|INPP5B_ENST00000467066.1_5'UTR|INPP5B_ENST00000373024.3_Missense_Mutation_p.A269V|INPP5B_ENST00000373026.1_Missense_Mutation_p.A349V NM_005540.2 NP_005531.2 P32019 I5P2_HUMAN inositol polyphosphate-5-phosphatase, 75kDa 349 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to membrane|microtubule cytoskeleton GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1) 15 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) GTATGTTCCCGCAAAAAACCT 0.458000 5 258 0 0 1 0 0 ACTRT1 139741 broad.mit.edu 37 X 127185142 127185142 + Silent SNP G G T TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chrX:127185142G>T ENST00000371124.3 - 1 1240 c.1044C>A c.(1042-1044)acC>acA p.T348T NM_138289.3 NP_612146.1 Q8TDG2 ACTT1_HUMAN actin-related protein T1 348 cytoplasm|cytoskeleton breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 34 TGCTCATAGAGGTCATGATGG 0.473000 5 296 0.000602214 0.000605716 1 1 0 IGHV3-48 0 broad.mit.edu 37 14 106993873 106993873 + RNA SNP G G A TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr14:106993873G>A ENST00000390624.2 - 0 370 TGCAGATACAGTGAGTTCTTG 0.493000 8 1306 0 0 1 0 0 SH2D2A 9047 broad.mit.edu 37 1 156777073 156777073 + Missense_Mutation SNP T T G TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr1:156777073T>G ENST00000392306.2 - 8 1236 c.1097A>C c.(1096-1098)cAc>cCc p.H366P SH2D2A_ENST00000368198.3_Missense_Mutation_p.H338P|SH2D2A_ENST00000368199.3_Missense_Mutation_p.H356P NM_001161441.1 NP_001154913.1 Q9NP31 SH22A_HUMAN SH2 domain containing 2A 356 Pro-rich. angiogenesis|cell differentiation|signal transduction cytoplasm|soluble fraction SH3 domain binding|SH3/SH2 adaptor activity endometrium(1)|large_intestine(2)|lung(15) 18 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TGGGGGCTGGTGGGGCAGGGG 0.597000 6 37 0 0 1 0 0 NBPF20 100288142 broad.mit.edu 37 1 148346684 148346684 + Missense_Mutation SNP G G A TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr1:148346684G>A ENST00000369202.1 - 2 270 c.73C>T c.(73-75)Cgc>Tgc p.R25C NBPF20_ENST00000414710.2_Missense_Mutation_p.R25C neuroblastoma breakpoint family, member 20 p.R25C(1) breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1) 27 AACTGGGGGCGCAATTTCTCG 0.507000 8 1133 0 0 1 0 0 UTRN 7402 broad.mit.edu 37 6 144780435 144780435 + Silent SNP C C T TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr6:144780435C>T ENST00000367545.3 + 20 2652 c.2652C>T c.(2650-2652)ggC>ggT p.G884G NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 884 Interaction with SYNM. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) GCTTTCTGGGCCGCTACCAAG 0.483000 12 211 0 0 1 0 0 ZNF443 10224 broad.mit.edu 37 19 12542283 12542283 + Missense_Mutation SNP A A G TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr19:12542283A>G ENST00000301547.5 - 4 900 c.703T>C c.(703-705)Tct>Cct p.S235P CTD-3105H18.16_ENST00000595562.1_Intron NM_005815.4 NP_005806.2 Q9Y2A4 ZN443_HUMAN zinc finger protein 443 235 induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1) 28 CTGTAAAAAGAAAAGGCTTTA 0.378000 7 907 0 0 1 0 0 KIAA1211 57482 broad.mit.edu 37 4 57182165 57182165 + Missense_Mutation SNP C C T TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr4:57182165C>T ENST00000504228.1 + 6 2602 c.2497C>T c.(2497-2499)Cct>Tct p.P833S KIAA1211_ENST00000541073.1_Missense_Mutation_p.P826S|KIAA1211_ENST00000264229.6_Missense_Mutation_p.P833S Q6ZU35 K1211_HUMAN KIAA1211 833 endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) AAAGCCAGACCCTGTGATGCC 0.532000 53 236 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102292770 102292770 + RNA SNP C C T rs149751844 by1000genomes TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr15:102292770C>T ENST00000561463.1 + 0 816 AGCGGCGCGACGAGATGCTGC 0.597000 7 105 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628245 29628245 + Missense_Mutation SNP G G A TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a 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 8 647 0 0 1 0 0 KCNA5 3741 broad.mit.edu 37 12 5154148 5154148 + Missense_Mutation SNP C C A TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr12:5154148C>A ENST00000252321.3 + 1 1064 c.835C>A c.(835-837)Cgt>Agt p.R279S NM_002234.3 NP_002225.2 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 5 279 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2) 52 CAGGGATGAACGTGAGCTGCT 0.687000 56 318 6.3091e-27 6.7375e-27 1 1 0 PLS1 5357 broad.mit.edu 37 3 142396872 142396872 + Splice_Site SNP A A T TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr3:142396872A>T ENST00000337777.3 + 6 710 c.e6-1 PLS1_ENST00000457734.2_Splice_Site|PLS1_ENST00000497002.1_Splice_Site NM_002670.2 NP_002661.2 Q14651 PLSI_HUMAN plastin 1 cytoplasm actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 27 TTTTCTCTTTAGCAAAATGAT 0.274000 38 187 0 0 1 0 0 SPINK2 6691 broad.mit.edu 37 4 57676313 57676313 + Missense_Mutation SNP G G A TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr4:57676313G>A ENST00000506738.1 - 4 476 c.397C>T c.(397-399)Ccc>Tcc p.P133S SPINK2_ENST00000504762.1_Missense_Mutation_p.P118S|SPINK2_ENST00000248701.4_Missense_Mutation_p.P83S NM_001271718.1 NP_001258647.1 P20155 ISK2_HUMAN serine peptidase inhibitor, Kazal type 2 (acrosin-trypsin inhibitor) 83 extracellular region serine-type endopeptidase inhibitor activity kidney(1)|large_intestine(1)|lung(2) 4 Glioma(25;0.08)|all_neural(26;0.181) CATCAGCAGGGTCCATTTCGA 0.368000 29 135 0 0 1 0 0 CISH 1154 broad.mit.edu 37 3 50645400 50645400 + Missense_Mutation SNP G G C TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr3:50645400G>C ENST00000443053.2 - 4 693 c.466C>G c.(466-468)Cgt>Ggt p.R156G CISH_ENST00000348721.3_Missense_Mutation_p.R139G NM_013324.5 NP_037456.5 Q9NSE2 CISH_HUMAN cytokine inducible SH2-containing protein 139 SH2. intracellular signal transduction|negative regulation of signal transduction|regulation of cell growth intracellular breast(2)|lung(1)|stomach(1)|upper_aerodigestive_tract(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202) GAGTCCAGACGGAAGCTGGAG 0.582000 32 171 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14513764 14513764 + Missense_Mutation SNP C C T TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr18:14513764C>T ENST00000358970.5 - 10 1429 c.1430G>A c.(1429-1431)cGg>cAg p.R477Q NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 477 p.R477Q(12) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 AAGTTGTTTCCGGGTATCATT 0.358000 5 313 0 0 1 0 0 RGPD3 653489 broad.mit.edu 37 2 107049681 107049681 + Missense_Mutation SNP T T C TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr2:107049681T>C ENST00000409886.3 - 16 2353 c.2266A>G c.(2266-2268)Aac>Gac p.N756D RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 756 intracellular transport binding p.N756D(6) breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TCACTATAGTTTTCGAGTTCC 0.373000 9 1658 0 0 1 0 0 MUC21 394263 broad.mit.edu 37 6 30954918 30954918 + Silent SNP A A G rs139721236 TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr6:30954918A>G ENST00000376296.3 + 2 1207 c.966A>G c.(964-966)acA>acG p.T322T MUC21_ENST00000486149.2_5'UTR NM_001010909.2 NP_001010909.2 Q5SSG8 MUC21_HUMAN mucin 21, cell surface associated 322 28 X 15 AA approximate tandem repeats.|Ser-rich. integral to membrane|plasma membrane p.T322T(1) NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 ACTCCAGCACAACCTCCAGTG 0.617000 24 639 0 0 1 0 0 ABCC6 368 broad.mit.edu 37 16 16284080 16284080 + Missense_Mutation SNP G G A rs72664217 TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr16:16284080G>A ENST00000205557.7 - 12 1605 c.1576C>T c.(1576-1578)Cgg>Tgg p.R526W ABCC6_ENST00000574094.1_5'UTR NM_001171.5 NP_001162.4 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 6 526 ABC transmembrane type-1 1. response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) CCGGAGGTCCGCAAGGCGCCC 0.577000 6 378 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625934 29625934 + Missense_Mutation SNP C C T TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr20:29625934C>T ENST00000278882.3 + 5 558 c.178C>T c.(178-180)Cat>Tat p.H60Y FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y|FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ACTTGTTGGGCATTCAGATGC 0.338000 12 399 0 0 1 0 0 SNX6 58533 broad.mit.edu 37 14 35072604 35072604 + Missense_Mutation SNP T T C TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr14:35072604T>C ENST00000396526.3 - 5 614 c.118A>G c.(118-120)Att>Gtt p.I40V SNX6_ENST00000355110.5_Missense_Mutation_p.I44V|SNX6_ENST00000362031.4_Missense_Mutation_p.I168V|SNX6_ENST00000396534.3_Missense_Mutation_p.I40V Q9UNH7 SNX6_HUMAN sorting nexin 6 156 PX. cell communication|intracellular protein transport|negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|retrograde transport, endosome to Golgi cytoplasmic vesicle membrane|early endosome membrane|nucleus phosphatidylinositol binding|protein homodimerization activity endometrium(4)|lung(1)|ovary(1) 6 Breast(36;0.0473)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.0245) CTTCTCAAAATAGGATGTGCT 0.338000 40 209 0 0 1 0 0 NAB2 4665 broad.mit.edu 37 12 57485457 57485457 + Silent SNP T T C TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr12:57485457T>C ENST00000300131.3 + 2 1011 c.633T>C c.(631-633)ccT>ccC p.P211P NAB2_ENST00000342556.6_Silent_p.P211P|NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000357680.4_Silent_p.P211P NM_005967.3 NP_005958.1 Q15742 NAB2_HUMAN NGFI-A binding protein 2 (EGR1 binding protein 2) 211 cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus transcription corepressor activity p.P211P(3) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 20 TCTCCCCCCCTGCAGGGGGAG 0.711000 8 101 0 0 1 0 0 AC006293.3 0 broad.mit.edu 37 19 55221570 55221570 + RNA SNP A A C TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr19:55221570A>C ENST00000413439.1 + 0 1350 TACAGATGCTACGGTGCACAC 0.677000 5 232 0 0 1 0 0 PHIP 55023 broad.mit.edu 37 6 79655783 79655783 + Missense_Mutation SNP G G A TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr6:79655783G>A ENST00000275034.4 - 38 4732 c.4565C>T c.(4564-4566)tCt>tTt p.S1522F PHIP_ENST00000479165.1_5'UTR NM_017934.5 NP_060404.3 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein 1522 insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis nucleus insulin receptor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 68 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) TGAAGAAGTAGATGGTTGCTC 0.388000 59 199 0 0 1 0 0 RARS2 57038 broad.mit.edu 37 6 88299660 88299660 + Missense_Mutation SNP G G A TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr6:88299660G>A ENST00000369536.5 - 1 61 c.16C>T c.(16-18)Cgc>Tgc p.R6C NM_020320.3 NP_064716.2 Q5T160 SYRM_HUMAN arginyl-tRNA synthetase 2, mitochondrial 6 arginyl-tRNA aminoacylation mitochondrial matrix arginine-tRNA ligase activity|ATP binding|protein binding p.R6C(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 22 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0456) ATAGCGCGGCGAAAGCCGCAC 0.672000 OREG0031911 type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET) 24 114 0 0 1 0 0 PCDHGA1 0 broad.mit.edu 37 5 140711696 140711696 + Missense_Mutation SNP A A G TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr5:140711696A>G ENST00000517417.1 + 1 1445 c.1445A>G c.(1444-1446)aAt>aGt p.N482S PCDHGA1_ENST00000378105.3_Missense_Mutation_p.N482S NM_018912.2 NP_061735.1 breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTGGACAGCAATGAGAATGCA 0.532000 7 545 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000330386.6_Silent_p.Q2644Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 9 218 0 0 1 0 0 MED18 54797 broad.mit.edu 37 1 28661125 28661125 + Missense_Mutation SNP C C T TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr1:28661125C>T ENST00000373842.4 + 3 480 c.271C>T c.(271-273)Cca>Tca p.P91S MED18_ENST00000398997.2_Missense_Mutation_p.P91S|MED18_ENST00000479574.1_3'UTR NM_001127350.1|NM_017638.2 NP_001120822.1|NP_060108.2 Q9BUE0 MED18_HUMAN mediator complex subunit 18 91 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex identical protein binding endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 7 Colorectal(325;0.000147)|Lung NSC(340;0.000818)|all_lung(284;0.000996)|Renal(390;0.00357)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0557)|Ovarian(437;0.113) OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0141)|READ - Rectum adenocarcinoma(331;0.0649) CCTGGGACAGCCAGAAATGGG 0.582000 120 506 0 0 1 0 0 ZC3H7A 29066 broad.mit.edu 37 16 11868213 11868213 + Missense_Mutation SNP G G C TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr16:11868213G>C ENST00000396516.2 - 8 979 c.782C>G c.(781-783)gCa>gGa p.A261G ZC3H7A_ENST00000355758.4_Missense_Mutation_p.A261G Q8IWR0 Z3H7A_HUMAN zinc finger CCCH-type containing 7A 261 nucleus nucleic acid binding|zinc ion binding breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2) 25 TCCTCCATTTGCCAGCACTGC 0.473000 8 280 0 0 1 0 0 RIMS2 9699 broad.mit.edu 37 8 105160951 105160951 + Missense_Mutation SNP C C T TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr8:105160951C>T ENST00000436393.2 + 23 3504 c.3263C>T c.(3262-3264)tCt>tTt p.S1088F RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000406091.3_Intron Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 516 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) GGCAGCCAGTCTGACACTGCA 0.517000 HNSCC(12;0.0054) 36 187 0 0 1 0 0 TXNDC2 0 broad.mit.edu 37 18 9887074 9887074 + Missense_Mutation SNP G G A TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr18:9887074G>A ENST00000306084.6 + 2 797 c.598G>A c.(598-600)Gaa>Aaa p.E200K TXNDC2_ENST00000536353.2_Intron|TXNDC2_ENST00000357775.4_Missense_Mutation_p.E133K NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 200 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 GTCCTCAGAAGAAGCCATCCA 0.577000 8 768 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21731270 21731270 + Missense_Mutation SNP T T C TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr17:21731270T>C ENST00000584755.1 + 2 969 c.572T>C c.(571-573)aTc>aCc p.I191T UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Intron p.I191T(3) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 ATCCCCCCGATCAGCAGAGGC 0.547000 6 355 0 0 1 0 0 CENPF 1063 broad.mit.edu 37 1 214832306 214832306 + Missense_Mutation SNP A A T TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr1:214832306A>T ENST00000366955.3 + 19 9244 c.9076A>T c.(9076-9078)Agt>Tgt p.S3026C NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 3122 Sufficient for centromere localization.|Sufficient for nuclear localization. cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) ATCCCCACTGAGTCTCGGCAA 0.517000 OREG0014250 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 485 0 0 1 0 0 PCDHB7 0 broad.mit.edu 37 5 140554541 140554541 + Missense_Mutation SNP G G T TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr5:140554541G>T ENST00000231137.3 + 1 2299 c.2125G>T c.(2125-2127)Gtg>Ttg p.V709L NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 709 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GTTCGTGGCGGTGCGGCTGTG 0.697000 86 528 5.78178e-49 6.25155e-49 1 1 0 LRFN1 57622 broad.mit.edu 37 19 39805357 39805357 + Missense_Mutation SNP A A T TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr19:39805357A>T ENST00000248668.4 - 1 619 c.620T>A c.(619-621)gTg>gAg p.V207E CTC-246B18.8_ENST00000601911.1_RNA NM_020862.1 NP_065913.1 Q9P244 LRFN1_HUMAN leucine rich repeat and fibronectin type III domain containing 1 207 cell junction|integral to membrane|postsynaptic density|postsynaptic membrane central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) GTGAAGCTGCACGAAGGTCCC 0.647000 27 72 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102292767 102292767 + RNA SNP C C T rs113047734 by1000genomes TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr15:102292767C>T ENST00000561463.1 + 0 813 CACAGCGGCGCGACGAGATGC 0.597000 18 87 0 0 1 0 0 ZFAS1 0 broad.mit.edu 37 20 47896888 47896888 + RNA SNP C C T TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr20:47896888C>T ENST00000450535.1 + 0 644 ZFAS1_ENST00000441722.1_RNA|ZFAS1_ENST00000417721.1_RNA|ZFAS1_ENST00000458653.1_RNA|SNORD12B_ENST00000410433.1_RNA|ZFAS1_ENST00000326677.5_RNA|ZFAS1_ENST00000371743.3_RNA|ZFAS1_ENST00000428008.1_RNA CTTTTTTCCCCGACAGATCGA 0.448000 25 223 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 8 190 0 0 1 0 0 OR4C6 219432 broad.mit.edu 37 11 55433335 55433335 + Silent SNP G G A TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr11:55433335G>A ENST00000314259.3 + 1 722 c.693G>A c.(691-693)cgG>cgA p.R231R NM_001004704.1 NP_001004704.1 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, member 6 231 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R231R(1) breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 71 CTAAAGGGCGGCACAAAGCCC 0.507000 5 535 0 0 1 0 0 ZBTB40 9923 broad.mit.edu 37 1 22838561 22838563 + In_Frame_Del DEL AAG AAG - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr1:22838561_22838563delAAG ENST00000404138.1 + 12 2906_2908 c.2395_2397delAAG c.(2395-2397)del p.K803del ZBTB40_ENST00000375647.4_In_Frame_Del_p.K803del|ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del NM_001083621.1 NP_001077090.1 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 803 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) CGATGCCCCCAAGAAGAAGAAGA 0.517 10 385 --- --- --- --- CDCA8 55143 broad.mit.edu 37 1 38166149 38166151 + In_Frame_Del DEL GAA GAA - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr1:38166149_38166151delGAA ENST00000373055.1 + 5 652_654 c.379_381delGAA c.(379-381)del p.E131del CDCA8_ENST00000327331.2_In_Frame_Del_p.E131del NM_001256875.1|NM_018101.3 NP_001243804.1|NP_060571.1 Q53HL2 BOREA_HUMAN cell division cycle associated 8 131 Poly-Glu.|Required for interaction with SENP3. cell division|chromosome organization|mitotic metaphase|mitotic prometaphase chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle protein binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1) 11 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) AGTGGAAGAGGAAGAAGAAGAAG 0.384 7 654 --- --- --- --- IPP 3652 broad.mit.edu 37 1 46184897 46184898 + Frame_Shift_Del DEL AC AC - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr1:46184897_46184898delAC ENST00000396478.3 - 6 1265_1266 c.1163_1164delGT c.(1162-1164)tfs p.C388fs NM_005897.2 NP_005888.1 Q9Y573 IPP_HUMAN intracisternal A particle-promoted polypeptide 388 actin cytoskeleton|cytoplasm actin binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2) 20 Acute lymphoblastic leukemia(166;0.155) TAGCCCCATAACACACACACAC 0.347 9 316 --- --- --- --- LINGO4 339398 broad.mit.edu 37 1 151773603 151773603 + Frame_Shift_Del DEL A A - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr1:151773603delA ENST00000368820.3 - 2 2515 c.1578delT c.(1576-1578)ttfs p.F526fs NM_001004432.2 NP_001004432.1 Q6UY18 LIGO4_HUMAN leucine rich repeat and Ig domain containing 4 526 integral to membrane breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) TGCTATCCAGAAAAAAAGGCC 0.582 11 1185 --- --- --- --- HAX1 10456 broad.mit.edu 37 1 154245864 154245866 + In_Frame_Del DEL GAA GAA - rs11556342 TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr1:154245864_154245866delGAA ENST00000328703.7 + 2 319_321 c.106_108delGAA c.(106-108)del p.E40del HAX1_ENST00000457918.2_Intron|HAX1_ENST00000483970.2_In_Frame_Del_p.E40del|HAX1_ENST00000532105.1_Intron NM_006118.3 NP_006109.2 O00165 HAX1_HUMAN HCLS1 associated protein X-1 40 Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity). actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction interleukin-1 binding|protein N-terminus binding cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 15 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TGATGATGAGGAAGAAGAAGAAG 0.522 Kostmann syndrome 11 492 --- --- --- --- GPATCH4 54865 broad.mit.edu 37 1 156565503 156565504 + Frame_Shift_Ins INS - - T TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr1:156565503_156565504insT ENST00000368232.4 - 8 746_747 c.614_615insA c.(613-615)aaafs p.K205fs GPATCH4_ENST00000438976.2_Frame_Shift_Ins_p.K210fs|GPATCH4_ENST00000497287.1_5'UTR NM_015590.3|NM_182679.2 NP_056405.2|NP_872620.1 Q5T3I0 GPTC4_HUMAN G patch domain containing 4 205 intracellular nucleic acid binding autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1) 17 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TTTTCTTTTTCTTTTTTTTGGG 0.535 7 568 --- --- --- --- SMG7 9887 broad.mit.edu 37 1 183515266 183515267 + Frame_Shift_Ins INS - - A TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr1:183515266_183515267insA ENST00000367537.3 + 18 2680_2681 c.2485_2486insA c.(2485-2487)aaafs p.K829fs SMG7_ENST00000347615.2_Frame_Shift_Ins_p.K846fs|SMG7_ENST00000507469.1_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000456731.2_Frame_Shift_Ins_p.K758fs|SMG7_ENST00000515829.2_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.K804fs Q92540 SMG7_HUMAN SMG7 nonsense mediated mRNA decay factor 846 Gln/Pro-rich. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding p.?(1) breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 GCAGCCTCTAGAAAAAAAAATG 0.450 12 547 --- --- --- --- ASXL2 55252 broad.mit.edu 37 2 26022304 26022306 + In_Frame_Del DEL CTG CTG - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr2:26022304_26022306delCTG ENST00000435504.4 - 5 644_646 c.351_353delCAG c.(349-354)agt>ag p.SS117del ASXL2_ENST00000336112.4_In_Frame_Del_p.SS89del|ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000497092.1_5'UTR Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 117 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCCACCATCACTGCTGCTGCTGC 0.463 7 718 --- --- --- --- RTN4 57142 broad.mit.edu 37 2 55253745 55253746 + Frame_Shift_Ins INS - - T TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr2:55253745_55253746insT ENST00000337526.6 - 3 1732_1733 c.1489_1490insA c.(1489-1491)agafs p.R497fs RTN4_ENST00000317610.7_Intron|RTN4_ENST00000394611.2_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000357376.3_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000404909.1_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000405240.1_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000354474.6_Frame_Shift_Ins_p.R265fs|RTN4_ENST00000357732.4_Intron NM_020532.4 NP_065393.1 Q9NQC3 RTN4_HUMAN reticulon 4 497 apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1) 36 CTTTTCTTCTATTTTTTTTTCA 0.381 11 380 --- --- --- --- SMYD5 10322 broad.mit.edu 37 2 73453009 73453011 + In_Frame_Del DEL GAG GAG - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr2:73453009_73453011delGAG ENST00000389501.4 + 13 1237_1239 c.1192_1194delGAG c.(1192-1194)del p.E403del NM_006062.2 NP_006053.2 Q6GMV2 SMYD5_HUMAN SMYD family member 5 403 Glu-rich. metal ion binding NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1) 13 ggaagaggaagaggaggaggagg 0.562 7 360 --- --- --- --- CH17-132F21.1 0 broad.mit.edu 37 2 90458648 90458648 + Frame_Shift_Del DEL T T - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr2:90458648delT ENST00000603238.1 + 2 324 c.324delT c.(322-324)tgfs p.108fs CTTATTACTGTCAACAGAGTG 0.512 8 4174 --- --- --- --- ITPRIPL1 150771 broad.mit.edu 37 2 96992793 96992795 + In_Frame_Del DEL GAG GAG - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr2:96992793_96992795delGAG ENST00000361124.4 + 1 859_861 c.448_450delGAG c.(448-450)del p.E155del ITPRIPL1_ENST00000439118.2_In_Frame_Del_p.E147del|ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000542887.1_In_Frame_Del_p.E139del NM_178495.5 NP_848590.3 Q6GPH6 IPIL1_HUMAN inositol 1,4,5-trisphosphate receptor interacting protein-like 1 147 integral to membrane breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TTCCAGCAGTGAGGAGGAGGAGG 0.532 13 366 --- --- --- --- SLC9A4 389015 broad.mit.edu 37 2 103149137 103149137 + Frame_Shift_Del DEL A A - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr2:103149137delA ENST00000295269.4 + 12 2844 c.2387delA c.(2386-2388)cafs p.Q796fs NM_001011552.3 NP_001011552.2 Q6AI14 SL9A4_HUMAN solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 796 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 CCTTTGCTCCAAAAAAAATAG 0.473 8 253 --- --- --- --- GCC2 9648 broad.mit.edu 37 2 109087883 109087884 + Frame_Shift_Ins INS - - A TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr2:109087883_109087884insA ENST00000309863.6 + 6 2812_2813 c.2098_2099insA c.(2098-2100)aaafs p.K700fs NM_181453.3 NP_852118.1 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain containing 2 700 Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 ACTCAGTTCAGAAAAAAAACAG 0.307 7 1434 --- --- --- --- ALS2CR11 151254 broad.mit.edu 37 2 202352352 202352352 + Frame_Shift_Del DEL T T - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr2:202352352delT ENST00000439140.1 - 16 5490 c.5446delA c.(5446-5448)ttfs p.I1816fs ALS2CR11_ENST00000286195.3_Frame_Shift_Del_p.I619fs|ALS2CR11_ENST00000439802.1_3'UTR NM_001168221.1 NP_001161693.1 Q53TS8 AL2SA_HUMAN amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 619 NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3) 33 CCTCTTTTAATTTTTTTTGGC 0.323 7 403 --- --- --- --- SLC4A3 6508 broad.mit.edu 37 2 220496799 220496801 + In_Frame_Del DEL GAA GAA - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr2:220496799_220496801delGAA ENST00000358055.3 + 7 1433_1435 c.921_923delGAA c.(919-924)agg>ag p.RK307del SLC4A3_ENST00000273063.6_In_Frame_Del_p.RK334del|SLC4A3_ENST00000373762.3_In_Frame_Del_p.RK334del|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000373760.2_In_Frame_Del_p.RK307del|SLC4A3_ENST00000317151.3_In_Frame_Del_p.RK307del P48751 B3A3_HUMAN solute carrier family 4 (anion exchanger), member 3 307 bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 51 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCCTTCGCAGGAAGAAGAAGAAG 0.650 7 358 --- --- --- --- IRS1 3667 broad.mit.edu 37 2 227660808 227660810 + In_Frame_Del DEL GCT GCT - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr2:227660808_227660810delGCT ENST00000305123.4 - 1 3665_3667 c.2645_2647delAGC c.(2644-2649)ccc>c p.QP882del NM_005544.2 NP_005535.1 P35568 IRS1_HUMAN insulin receptor substrate 1 882 Poly-Gln. fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2) 69 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) TGCAGCAAGGgctgctgctgctg 0.626 10 354 --- --- --- --- USP40 55230 broad.mit.edu 37 2 234394236 234394237 + Frame_Shift_Ins INS - - T TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr2:234394236_234394237insT ENST00000251722.6 - 30 3558_3559 c.3441_3442insA c.(3439-3444)aaaagafs p.R1148fs USP40_ENST00000427112.2_Frame_Shift_Ins_p.R1148fs|USP40_ENST00000496298.1_5'UTR|USP40_ENST00000450966.1_Frame_Shift_Ins_p.R1160fs Q9NVE5 UBP40_HUMAN ubiquitin specific peptidase 40 1148 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539) Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646) AAATAATCTTGTTTTTTTTTCT 0.337 9 349 --- --- --- --- TATDN2 9797 broad.mit.edu 37 3 10291121 10291123 + In_Frame_Del DEL CTC CTC - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr3:10291121_10291123delCTC ENST00000287652.4 + 2 1288_1290 c.237_239delCTC c.(235-240)aac>aa p.NS79del TATDN2_ENST00000448281.2_In_Frame_Del_p.NS79del|RP11-438J1.1_ENST00000450534.1_In_Frame_Del_p.NS22del NM_014760.3 NP_055575.3 Q93075 TATD2_HUMAN TatD DNase domain containing 2 79 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2) 28 GCAGAAATAACTCCTCCTCCTCC 0.635 8 1372 --- --- --- --- XPC 7508 broad.mit.edu 37 3 14219966 14219968 + Splice_Site DEL CCT CCT - rs72561774 TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr3:14219966_14219968delCCT ENST00000285021.7 - 1 315_317 c.103_splice c.e1+1 p.ED34_splice LSM3_ENST00000306024.3_5'UTR|XPC_ENST00000449060.2_Splice_Site_p.ED34_splice NM_001145769.1|NM_004628.4 NP_001139241.1|NP_004619.3 Q01831 XPC_HUMAN xeroderma pigmentosum, complementation group C 34 Glu-rich (acidic).|Poly-Glu. nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal cytoplasm|nucleoplasm|XPC complex bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding p.E34delE(1) NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TCGCTCTCACCCTCCTCCTCCTC 0.734 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 10 289 --- --- --- --- MST1 4485 broad.mit.edu 37 3 49723112 49723112 + Frame_Shift_Del DEL T T - rs11288337 TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr3:49723112delT ENST00000449682.2 - 11 1665 c.1304delA c.(1303-1305)acfs p.N435fs MST1_ENST00000383728.3_3'UTR NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 421 Kringle 4. proteolysis extracellular region serine-type endopeptidase activity NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CCCATCTGGGTTCCGGCAGAA 0.587 9 262 --- --- --- --- PARP14 54625 broad.mit.edu 37 3 122433231 122433232 + Frame_Shift_Ins INS - - A TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr3:122433231_122433232insA ENST00000474629.2 + 12 4221_4222 c.3955_3956insA c.(3955-3957)aaafs p.K1319fs NM_017554.2 NP_060024.2 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 1319 Macro 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(114;0.0531) GCAGGAGTGTGAAAAAAAAAAT 0.421 17 235 --- --- --- --- PCOLCE2 26577 broad.mit.edu 37 3 142548586 142548586 + Frame_Shift_Del DEL T T - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr3:142548586delT ENST00000295992.3 - 6 1119 c.813delA c.(811-813)aafs p.K271fs PCOLCE2_ENST00000485766.1_Intron NM_013363.3 NP_037495.1 Q9UKZ9 PCOC2_HUMAN procollagen C-endopeptidase enhancer 2 271 extracellular region collagen binding|heparin binding|peptidase activator activity NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 32 TTGTAGGCAGTTTTTTTGGCC 0.383 7 767 --- --- --- --- RP11-649A16.1 0 broad.mit.edu 37 3 146995077 146995077 + RNA DEL A A - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr3:146995077delA ENST00000473299.1 - 0 132 TCTGGACTGtaaaaaaaaaaa 0.294 10 36 --- --- --- --- MED12L 116931 broad.mit.edu 37 3 151148114 151148116 + In_Frame_Del DEL CAG CAG - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr3:151148114_151148116delCAG ENST00000474524.1 + 42 6369_6371 c.6331_6333delCAG c.(6331-6333)del p.Q2115del MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 2115 Gln-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex p.Q2111E(1) NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GCAGCAGACCCAGCAGCAGCAGC 0.527 9 381 --- --- --- --- TMEM175 84286 broad.mit.edu 37 4 946206 946207 + Frame_Shift_Del DEL TG TG - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr4:946206_946207delTG ENST00000264771.4 + 7 615_616 c.430_431delTG c.(430-432)tfs p.C144fs TMEM175_ENST00000515740.1_Frame_Shift_Del_p.C28fs|TMEM175_ENST00000508204.1_Frame_Shift_Del_p.C62fs|TMEM175_ENST00000504180.1_3'UTR NM_032326.2 NP_115702.1 Q9BSA9 TM175_HUMAN transmembrane protein 175 144 integral to membrane NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3) 14 OV - Ovarian serous cystadenocarcinoma(23;0.0158) CTTCTTGTTCTGTGTGTGTGTG 0.515 7 831 --- --- --- --- RGS12 6002 broad.mit.edu 37 4 3430399 3430399 + Frame_Shift_Del DEL A A - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr4:3430399delA ENST00000336727.3 + 16 4430 c.3526delA c.(3526-3528)aafs p.K1178fs RGS12_ENST00000338806.4_Frame_Shift_Del_p.K530fs|RGS12_ENST00000306648.7_Intron|RGS12_ENST00000382788.3_Frame_Shift_Del_p.K1178fs|RGS12_ENST00000344733.5_Frame_Shift_Del_p.K1178fs|RGS12_ENST00000538395.1_Intron NM_002926.3 NP_002917.1 O14924 RGS12_HUMAN regulator of G-protein signaling 12 1178 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) AAAGATTGGGAAAAAAAAATA 0.328 7 411 --- --- --- --- CDKL2 8999 broad.mit.edu 37 4 76539579 76539580 + Frame_Shift_Ins INS - - T TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr4:76539579_76539580insT ENST00000429927.2 - 3 925_926 c.222_223insA c.(220-225)aagatgfs p.M75fs CDKL2_ENST00000307465.4_Frame_Shift_Ins_p.M75fs NM_003948.3 NP_003939.1 Q92772 CDKL2_HUMAN cyclin-dependent kinase-like 2 (CDC2-related kinase) 75 Protein kinase. sex differentiation|signal transduction cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2) 22 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) AGGTACCATCGTTTTTTTTTCT 0.322 9 350 --- --- --- --- NAP1L5 266812 broad.mit.edu 37 4 89618484 89618486 + In_Frame_Del DEL TCC TCC - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr4:89618484_89618486delTCC ENST00000323061.5 - 1 900_902 c.420_422delGGA c.(418-423)gaa>ga p.EE142del HERC3_ENST00000402738.1_Intron|HERC3_ENST00000264345.3_Intron|HERC3_ENST00000543130.1_Intron NM_153757.2 NP_715638.1 Q96NT1 NP1L5_HUMAN nucleosome assembly protein 1-like 5 142 Glu-rich. nucleosome assembly nucleus protein binding endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(123;0.000181) gtactcctcttcctcctcctcct 0.606 8 331 --- --- --- --- EXOSC9 5393 broad.mit.edu 37 4 122723894 122723894 + Frame_Shift_Del DEL T T - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr4:122723894delT ENST00000512454.1 + 2 395 c.179delT c.(178-180)ctfs p.L60fs EXOSC9_ENST00000243498.5_Frame_Shift_Del_p.L76fs|EXOSC9_ENST00000379663.3_Frame_Shift_Del_p.L76fs|EXOSC9_ENST00000509980.1_3'UTR Q06265 EXOS9_HUMAN exosome component 9 76 ARE binding. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing cytosol|nuclear exosome (RNase complex)|nucleolus|nucleus 3'-5'-exoribonuclease activity|AU-rich element binding|protein binding cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1) 16 GAAGGTATTCTTTTTTTTAAC 0.383 7 513 --- --- --- --- ADAD1 132612 broad.mit.edu 37 4 123302211 123302211 + Frame_Shift_Del DEL A A - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr4:123302211delA ENST00000296513.2 + 4 422 c.237delA c.(235-237)ccfs p.P79fs ADAD1_ENST00000388724.2_Frame_Shift_Del_p.P79fs|ADAD1_ENST00000492454.1_3'UTR|ADAD1_ENST00000388725.2_Frame_Shift_Del_p.P61fs NM_139243.3 NP_640336.1 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 (testis-specific) 79 multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 35 TCCTTCCTCCAAAAAAAATAC 0.358 8 404 --- --- --- --- DNAH5 1767 broad.mit.edu 37 5 13919383 13919383 + Frame_Shift_Del DEL T T - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr5:13919383delT ENST00000265104.4 - 7 981 c.877delA c.(877-879)gafs p.R293fs NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 293 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TTGGAGAGTCTTTTTTTCCAG 0.517 Kartagener syndrome 8 1060 --- --- --- --- CDH10 1008 broad.mit.edu 37 5 24492973 24492973 + Frame_Shift_Del DEL A A - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr5:24492973delA ENST00000264463.4 - 10 2084 c.1577delT c.(1576-1578)tcfs p.F526fs CDH10_ENST00000502921.1_5'UTR NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 526 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) AGCTAAACTGAAAAAAAATTT 0.313 HNSCC(23;0.051) 8 1100 --- --- --- --- EPB41L4A 64097 broad.mit.edu 37 5 111519755 111519756 + Frame_Shift_Ins INS - - G TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr5:111519755_111519756insG ENST00000261486.5 - 18 1855_1856 c.1579_1580insC c.(1579-1581)agcfs p.S527fs EPB41L4A_ENST00000507810.1_5'UTR NM_022140.3 NP_071423.3 Q9HCS5 E41LA_HUMAN erythrocyte membrane protein band 4.1 like 4A 527 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1) 34 all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135) OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791) GGGGTCGGCTTGGTTTTTTTCC 0.436 7 486 --- --- --- --- PCDHB4 0 broad.mit.edu 37 5 140502486 140502487 + Frame_Shift_Ins INS - - A TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr5:140502486_140502487insA ENST00000194152.1 + 1 906_907 c.906_907insA c.(904-909)ttaaaafs p.LK302fs NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 302 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding p.K305fs*12(1) autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAATACTGTTGAAAAAAAAATT 0.366 18 783 --- --- --- --- PCDHGB4 0 broad.mit.edu 37 5 140767492 140767497 + In_Frame_Del DEL TGCCAG TGCCAG - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr5:140767492_140767497delTGCCAG ENST00000519479.1 + 1 41_46 c.41_46delTGCCAG c.(40-48)ctg>c p.LPV14del PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron NM_003736.2|NM_018925.2|NM_032098.1 NP_003727.1|NP_061748.1|NP_115269.1 p.P15_V16delPV(1) endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2) 37 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTGAGAGGCTGCCAGTGCTCTTTCT 0.617 OREG0016859 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 19 --- --- --- --- ATXN1 6310 broad.mit.edu 37 6 16327913 16327915 + In_Frame_Del DEL TGA TGA - rs11969612 by1000genomes TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr6:16327913_16327915delTGA ENST00000244769.4 - 8 1563_1565 c.627_629delTCA c.(625-630)cag>ca p.HQ211del ATXN1_ENST00000436367.1_In_Frame_Del_p.HQ211del NM_000332.3 NP_000323.2 P54253 ATX1_HUMAN ataxin 1 211 Poly-Gln. H -> HQ (in Ref. 1; CAA55793). cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association p.H209delH(2)|p.H209_H211delHQH(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) ctgctgatgctgatgctgctgct 0.665 10 71 --- --- --- --- ATXN1 6310 broad.mit.edu 37 6 16327916 16327918 + In_Frame_Del DEL TGC TGC - rs28555263 TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr6:16327916_16327918delTGC ENST00000244769.4 - 8 1560_1562 c.624_626delGCA c.(622-627)cat>ca p.QH210del ATXN1_ENST00000436367.1_In_Frame_Del_p.QH210del NM_000332.3 NP_000323.2 P54253 ATX1_HUMAN ataxin 1 210 Poly-Gln. cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) ctgatgctgatgctgctgctgct 0.665 38 45 --- --- --- --- HIST1H1B 3009 broad.mit.edu 37 6 27835072 27835074 + In_Frame_Del DEL TTC TTC - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr6:27835072_27835074delTTC ENST00000331442.3 - 1 285_287 c.234_236delGAA c.(232-237)aat>aa p.KN78del NM_005322.2 NP_005313.1 P16401 H15_HUMAN histone cluster 1, H1b 78 H15. nucleosome assembly nucleosome|nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2) 24 GCGGCTGTTATTCTTCTCCACGT 0.557 185 875 --- --- --- --- ZNRD1-AS1 0 broad.mit.edu 37 6 29977300 29977300 + RNA DEL T T - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr6:29977300delT ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA TTCATGAATATTTTTTCTATA 0.438 8 327 --- --- --- --- TULP1 7287 broad.mit.edu 37 6 35478775 35478777 + In_Frame_Del DEL TCC TCC - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr6:35478775_35478777delTCC ENST00000229771.6 - 5 439_441 c.360_362delGGA c.(358-363)gaa>ga p.EE122del TULP1_ENST00000322263.4_In_Frame_Del_p.EE69del NM_003322.3 NP_003313.3 O00294 TULP1_HUMAN tubby like protein 1 122 Poly-Glu. Missing (in RP14). dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse actin filament binding|phosphatidylinositol-4,5-bisphosphate binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 19 gtcctcctcttcctcctcctcct 0.567 10 523 --- --- --- --- TREML2 79865 broad.mit.edu 37 6 41168714 41168716 + In_Frame_Del DEL CAG CAG - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr6:41168714_41168716delCAG ENST00000483722.1 - 1 216_218 c.31_33delCTG c.(31-33)del p.L11del NM_024807.2 NP_079083.2 Q5T2D2 TRML2_HUMAN triggering receptor expressed on myeloid cells-like 2 11 T cell activation cell surface|integral to membrane|plasma membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1) 18 Ovarian(28;0.0418)|Colorectal(47;0.196) CCTGTGGCCACAGCAGCAGCAGC 0.631 8 150 --- --- --- --- MDN1 23195 broad.mit.edu 37 6 90432674 90432675 + Splice_Site INS - - T TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr6:90432674_90432675insT ENST00000369393.3 - 40 6081_6082 c.5967_splice c.e40+1 p.S1989_splice MDN1_ENST00000428876.1_Splice_Site_p.S1989_splice Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 1989 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TGAAACTCACCTTTTTTTTGTC 0.401 7 619 --- --- --- --- GRM1 2911 broad.mit.edu 37 6 146755630 146755632 + In_Frame_Del DEL GAC GAC - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr6:146755630_146755632delGAC ENST00000361719.2 + 9 3753_3755 c.3283_3285delGAC c.(3283-3285)del p.D1099del GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000282753.1_In_Frame_Del_p.D1099del|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000507907.1_3'UTR NM_001278064.1 NP_001264993.1 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 1099 Asp/Glu-rich (acidic). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) CCCGCCCGCGGACGACGACGACG 0.650 10 522 --- --- --- --- CPVL 54504 broad.mit.edu 37 7 29070261 29070262 + Frame_Shift_Ins INS - - T rs5883182 TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr7:29070261_29070262insT ENST00000409850.1 - 16 1897_1898 c.1251_1252insA c.(1249-1254)aatttgfs p.NL417fs CPVL_ENST00000265394.5_Frame_Shift_Ins_p.NL417fs|CPVL_ENST00000396276.3_Frame_Shift_Ins_p.NL417fs Q9H3G5 CPVL_HUMAN carboxypeptidase, vitellogenic-like 417 proteolysis protein binding|serine-type carboxypeptidase activity p.V418fs*24(1) NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1) 28 ATCTTCCAAACTTTTTTTTCTG 0.510 7 925 --- --- --- --- TYW1B 441250 broad.mit.edu 37 7 72286070 72286071 + RNA INS - - A TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr7:72286070_72286071insA ENST00000438125.1 - 0 234 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity CCTAATAGGACAAAAAAAAACT 0.381 7 231 --- --- --- --- GTF2IRD2P1 0 broad.mit.edu 37 7 72667747 72667747 + RNA DEL T T - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr7:72667747delT ENST00000425256.1 - 0 633 NR_002164.1 tttttttttcttttttttttt 0.388 10 103 --- --- --- --- PHTF2 57157 broad.mit.edu 37 7 77569580 77569581 + Frame_Shift_Ins INS - - T TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr7:77569580_77569581insT ENST00000416283.2 + 12 1725_1726 c.1599_1600insT c.(1597-1602)ttttttfs p.FF533fs PHTF2_ENST00000307305.8_Frame_Shift_Ins_p.FF529fs|PHTF2_ENST00000275575.7_Frame_Shift_Ins_p.FF529fs|PHTF2_ENST00000422959.2_Frame_Shift_Ins_p.FF533fs|PHTF2_ENST00000424760.1_Frame_Shift_Ins_p.FF529fs|PHTF2_ENST00000248550.7_Frame_Shift_Ins_p.FF567fs NM_001127357.1|NM_020432.4 NP_001120829.1|NP_065165.3 Q8N3S3 PHTF2_HUMAN putative homeodomain transcription factor 2 567 regulation of transcription, DNA-dependent|transcription, DNA-dependent endoplasmic reticulum|nucleus DNA binding endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 19 TGTGGATTTTCTTTTTTTTGCT 0.307 10 617 --- --- --- --- OR9A4 130075 broad.mit.edu 37 7 141619203 141619203 + Frame_Shift_Del DEL T T - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr7:141619203delT ENST00000548136.1 + 1 587 c.528delT c.(526-528)aafs p.N176fs MGAM_ENST00000497554.1_Intron NM_001001656.1 NP_001001656.1 Q8NGU2 OR9A4_HUMAN olfactory receptor, family 9, subfamily A, member 4 176 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2) 22 Melanoma(164;0.0171) TGGTGAACAATTTTTTTTGTG 0.383 10 821 --- --- --- --- PRSS3P2 0 broad.mit.edu 37 7 142478881 142478882 + RNA INS - - AG TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr7:142478881_142478882insAG ENST00000603901.1 + 0 40 NR_001296.3 GAGCTGCTGGTGAGTTTCATGC 0.554 7 304 --- --- --- --- PRSS3P2 0 broad.mit.edu 37 7 142481923 142481925 + RNA DEL CAA CAA - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr7:142481923_142481925delCAA ENST00000603901.1 + 0 591 NR_001296.3 GTGATTAGACCAACCCTTCCCAT 0.537 7 379 --- --- --- --- PRSS3P2 0 broad.mit.edu 37 7 142481996 142481997 + RNA INS - - C TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr7:142481996_142481997insC ENST00000603901.1 + 0 591 NR_001296.3 TCCCAAGGTGGGGGGCTGAGGA 0.564 15 104 --- --- --- --- XRCC2 7516 broad.mit.edu 37 7 152346220 152346220 + Frame_Shift_Del DEL A A - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr7:152346220delA ENST00000359321.1 - 3 435 c.350delT c.(349-351)tgfs p.L117fs XRCC2_ENST00000495707.1_5'UTR NM_005431.1 NP_005422.1 O43543 XRCC2_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 2 117 meiosis nucleus ATP binding|DNA binding|DNA-dependent ATPase activity p.V118fs*5(1) NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2) 11 all_hematologic(28;0.0592)|Prostate(32;0.081) OV - Ovarian serous cystadenocarcinoma(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (81;0.0429) GCAGTACACCAAAAAAAATCT 0.393 Homologous recombination 8 427 --- --- --- --- SGK223 0 broad.mit.edu 37 8 8234868 8234869 + In_Frame_Ins INS - - GCCGCT rs59372311 by1000genomes TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr8:8234868_8234869insGCCGCT ENST00000520004.1 - 3 1314_1315 c.1050_1051insAGCGGC c.(1048-1053)ggccag>ggAGCGGCccag p.350_351GQ>GAAQ SGK223_ENST00000330777.4_In_Frame_Ins_p.350_351GQ>GAAQ Q86YV5 SG223_HUMAN 350 ATP binding|non-membrane spanning protein tyrosine kinase activity p.G350_A351insSG(1)|p.G350_S351insSG(1) GGGCTACTGGCGCCGCTGCCGC 0.653 8 84 --- --- --- --- SFTPC 6440 broad.mit.edu 37 8 22021060 22021061 + Frame_Shift_Del DEL GT GT - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr8:22021060_22021061delGT ENST00000522109.1 + 4 460_461 c.436_437delGT c.(436-438)gfs p.V146fs SFTPC_ENST00000521315.1_Splice_Site|SFTPC_ENST00000520605.1_Splice_Site|SFTPC_ENST00000524255.1_Splice_Site|SFTPC_ENST00000318561.3_Splice_Site|SFTPC_ENST00000437090.2_Splice_Site P11686 PSPC_HUMAN surfactant protein C 146 BRICHOS. respiratory gaseous exchange extracellular space p.M146fs*41(1) autonomic_ganglia(1)|large_intestine(1)|lung(1) 3 Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) CAACTTCCAGGTGTGTGTGTGT 0.545 8 157 --- --- --- --- UBR5 51366 broad.mit.edu 37 8 103289348 103289349 + Frame_Shift_Ins INS - - T TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr8:103289348_103289349insT ENST00000520539.1 - 45 6966_6967 c.6360_6361insA c.(6358-6363)aaaaggfs p.R2121fs UBR5_ENST00000220959.4_Frame_Shift_Ins_p.R2121fs|UBR5_ENST00000521922.1_Frame_Shift_Ins_p.R2115fs NM_015902.5 NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 2121 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding p.E2121fs*28(2) NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) TCTTCCCCTTCTTTTTTTTGCC 0.381 7 593 --- --- --- --- C9orf131 138724 broad.mit.edu 37 9 35043650 35043650 + Frame_Shift_Del DEL C C - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr9:35043650delC ENST00000312292.5 + 2 1071 c.1024delC c.(1024-1026)ccfs p.P343fs C9orf131_ENST00000354479.5_Frame_Shift_Del_p.P270fs|C9orf131_ENST00000421362.2_Frame_Shift_Del_p.P295fs NM_001040410.1|NM_203299.2 NP_001035500.1|NP_976044.2 Q5VYM1 CI131_HUMAN chromosome 9 open reading frame 131 343 cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1) 39 all_epithelial(49;0.22) LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309) TCCGATGCCACCCCCCTGCCA 0.527 8 1861 --- --- --- --- HRCT1 646962 broad.mit.edu 37 9 35906348 35906350 + In_Frame_Del DEL CTG CTG - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr9:35906348_35906350delCTG ENST00000354323.2 + 1 160_162 c.64_66delCTG c.(64-66)del p.L28del NM_001039792.1 NP_001034881.1 Q6UXD1 HRCT1_HUMAN histidine rich carboxyl terminus 1 28 integral to membrane NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1) 4 TGTGGCGGTCctgctgctgctgc 0.670 9 100 --- --- --- --- C9orf43 257169 broad.mit.edu 37 9 116187646 116187648 + In_Frame_Del DEL GCA GCA - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr9:116187646_116187648delGCA ENST00000288462.4 + 10 1334_1336 c.888_890delGCA c.(886-891)cgg>cg p.RQ296del C9orf43_ENST00000374165.1_In_Frame_Del_p.RQ296del NM_152786.1 NP_689999.1 Q8TAL5 CI043_HUMAN chromosome 9 open reading frame 43 296 Gln-rich. breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3) 15 agcagcagcggcagcagcagcag 0.557 7 286 --- --- --- --- ASTN2 23245 broad.mit.edu 37 9 119976989 119976991 + In_Frame_Del DEL CAG CAG - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr9:119976989_119976991delCAG ENST00000313400.4 - 3 761_763 c.661_663delCTG c.(661-663)del p.L221del ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del O75129 ASTN2_HUMAN astrotactin 2 221 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 CGGTGAACACCAGCAGCAGCAGC 0.601 7 257 --- --- --- --- RABL6 55684 broad.mit.edu 37 9 139734633 139734635 + In_Frame_Del DEL AGA AGA - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr9:139734633_139734635delAGA ENST00000371675.3 + 14 2498_2500 c.1613_1615delAGA c.(1612-1617)gag>g p.EK538del RABL6_ENST00000357466.2_Intron|RABL6_ENST00000371663.4_In_Frame_Del_p.EK654del|RABL6_ENST00000432842.2_3'UTR|RABL6_ENST00000311502.7_In_Frame_Del_p.EK653del RAB, member RAS oncogene family-like 6 CCCTCTaaggagaagaagaagaa 0.571 12 352 --- --- --- --- CCAR1 55749 broad.mit.edu 37 10 70509285 70509286 + Frame_Shift_Del DEL GA GA - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr10:70509285_70509286delGA ENST00000265872.6 + 10 1080_1081 c.961_962delGA c.(961-963)gfs p.E321fs CCAR1_ENST00000535016.1_Frame_Shift_Del_p.E306fs|CCAR1_ENST00000543719.1_Frame_Shift_Del_p.E306fs NM_018237.2 NP_060707.2 Q8IX12 CCAR1_HUMAN cell division cycle and apoptosis regulator 1 321 Arg-rich. apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm|perinuclear region of cytoplasm calcium ion binding|nucleic acid binding|protein binding NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3) 56 TTTCAGTCGTGAGAGAGAGAGA 0.391 10 277 --- --- --- --- ZMIZ1 57178 broad.mit.edu 37 10 81072446 81072446 + Frame_Shift_Del DEL C C - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr10:81072446delC ENST00000334512.5 + 25 3716 c.3144delC c.(3142-3144)gafs p.D1048fs ZMIZ1_ENST00000446377.2_Frame_Shift_Del_p.D114fs NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 1048 transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) CTTATCTGGACCCCCCCGACC 0.557 7 1365 --- --- --- --- RP11-34D15.2 0 broad.mit.edu 37 10 102104601 102104601 + RNA DEL T T - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr10:102104601delT ENST00000429420.1 - 0 103 AAAATCACAAttttttttttt 0.403 9 57 --- --- --- --- CPXM2 119587 broad.mit.edu 37 10 125528165 125528167 + In_Frame_Del DEL CAG CAG - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr10:125528165_125528167delCAG ENST00000241305.3 - 9 1328_1330 c.1174_1176delCTG c.(1174-1176)del p.L392del CPXM2_ENST00000368854.3_5'UTR NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 392 Poly-Leu. cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) CGAACTGCACCAGCAGCAGCAGC 0.626 10 821 --- --- --- --- TSPAN4 0 broad.mit.edu 37 11 864443 864445 + In_Frame_Del DEL CTG CTG - rs61867552 byFrequency TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr11:864443_864445delCTG ENST00000397404.1 + 5 521_523 c.262_264delCTG c.(262-264)del p.L92del TSPAN4_ENST00000397408.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000397396.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000346501.4_In_Frame_Del_p.L92del|TSPAN4_ENST00000397397.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000409531.1_In_Frame_Del_p.L111del|TSPAN4_ENST00000525201.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000409543.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000397411.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000397406.1_In_Frame_Del_p.L92del NM_001025237.1 NP_001020408.1 O14817 TSN4_HUMAN tetraspanin 4 92 protein complex assembly integral to plasma membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1) 3 all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) ACAGTTCTTCCTGCTGCTGCTGC 0.650 8 596 --- --- --- --- SPON1 10418 broad.mit.edu 37 11 14063263 14063263 + RNA DEL A A - rs113227652 TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr11:14063263delA ENST00000310358.7 + 0 1017 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) GATTGCAGGGAAAAAAAAAAA 0.423 9 91 --- --- --- --- LRFN4 78999 broad.mit.edu 37 11 66625231 66625233 + In_Frame_Del DEL CTG CTG - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr11:66625231_66625233delCTG ENST00000309602.4 + 1 259_261 c.16_18delCTG c.(16-18)del p.L10del LRFN4_ENST00000393952.3_In_Frame_Del_p.L10del|PC_ENST00000393955.2_Intron|PC_ENST00000393958.2_Intron|LRFN4_ENST00000531590.1_3'UTR|PC_ENST00000393960.1_Intron NM_024036.4 NP_076941.2 Q6PJG9 LRFN4_HUMAN leucine rich repeat and fibronectin type III domain containing 4 10 integral to membrane breast(1)|lung(1)|prostate(1) 3 CCCGCCGCTCCTGCTGCTGCTGC 0.719 9 174 --- --- --- --- PRB2 653247 broad.mit.edu 37 12 11546506 11546508 + In_Frame_Del DEL TTG TTG - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr12:11546506_11546508delTTG ENST00000389362.4 - 3 539_541 c.504_506delCAA c.(502-507)aag>aa p.NK168del PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) ACTTCGGGACTTGTTGTCTCCTT 0.596 7 1195 --- --- --- --- OR6C75 390323 broad.mit.edu 37 12 55759192 55759192 + Frame_Shift_Del DEL T T - rs75456529 TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr12:55759192delT ENST00000343399.3 + 1 298 c.298delT c.(298-300)ttfs p.F102fs NM_001005497.1 NP_001005497.1 A6NL08 O6C75_HUMAN olfactory receptor, family 6, subfamily C, member 75 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2) 25 GGCTCAGCTATTTTTTTTCAT 0.438 7 783 --- --- --- --- MYO1A 4640 broad.mit.edu 37 12 57422572 57422573 + Frame_Shift_Ins INS - - T TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr12:57422572_57422573insT ENST00000442789.2 - 29 3385_3386 c.3098_3099insA c.(3097-3099)aggfs p.R1033fs TAC3_ENST00000415231.1_5'UTR|MYO1A_ENST00000300119.3_Frame_Shift_Ins_p.R1033fs|MYO1A_ENST00000544473.1_Frame_Shift_Ins_p.R871fs NM_001256041.1 NP_001242970.1 Q9UBC5 MYO1A_HUMAN myosin IA 1033 sensory perception of sound|vesicle localization brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex actin binding|ATP binding|calmodulin binding|motor activity p.?(1) breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3) 50 AATGACTCCCCTTTTTTTTGTA 0.559 9 596 --- --- --- --- R3HDM2 22864 broad.mit.edu 37 12 57674205 57674207 + In_Frame_Del DEL TGC TGC - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr12:57674205_57674207delTGC ENST00000402412.1 - 14 1668_1670 c.1278_1280delGCA c.(1276-1281)caa>ca p.QQ426del RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000441731.2_In_Frame_Del_p.QQ73del|R3HDM2_ENST00000413953.2_In_Frame_Del_p.QQ139del|R3HDM2_ENST00000347140.3_In_Frame_Del_p.QQ412del|R3HDM2_ENST00000393811.2_In_Frame_Del_p.QQ139del|R3HDM2_ENST00000358907.2_In_Frame_Del_p.QQ412del|R3HDM2_ENST00000403821.2_In_Frame_Del_p.QQ412del Q9Y2K5 R3HD2_HUMAN R3H domain containing 2 412 Gln-rich. nucleus nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 22 AGCAGGAAGTtgctgctgctgct 0.576 7 375 --- --- --- --- TMEM19 55266 broad.mit.edu 37 12 72094757 72094757 + Frame_Shift_Del DEL T T - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr12:72094757delT ENST00000266673.5 + 6 1587 c.993delT c.(991-993)ggfs p.G331fs NM_018279.3 NP_060749.2 Q96HH6 TMM19_HUMAN transmembrane protein 19 331 integral to membrane large_intestine(1)|lung(8) 9 Breast(359;0.0889) GBM - Glioblastoma multiforme(134;0.044) CTGCTTGGGGTTTTTGGCCCA 0.433 7 902 --- --- --- --- SFSWAP 6433 broad.mit.edu 37 12 132281734 132281736 + In_Frame_Del DEL AGA AGA - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr12:132281734_132281736delAGA ENST00000261674.4 + 16 2687_2689 c.2546_2548delAGA c.(2545-2550)gag>g p.EK849del SFSWAP_ENST00000539506.1_3'UTR|SFSWAP_ENST00000541286.1_In_Frame_Del_p.EK901del NM_004592.3 NP_004583.2 Q12872 SFSWA_HUMAN splicing factor, suppressor of white-apricot homolog (Drosophila) 849 Arg/Ser-rich (RS domain). mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2) 25 AGTCCCCACGAGAAGAAGAAGAA 0.606 17 905 --- --- --- --- POLE 5426 broad.mit.edu 37 12 133220099 133220100 + Frame_Shift_Del DEL CA CA - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr12:133220099_133220100delCA ENST00000320574.5 - 34 4380_4381 c.4337_4338delTG c.(4336-4338)gfs p.V1447fs POLE_ENST00000535270.1_Frame_Shift_Del_p.V1420fs NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 1447 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) GTTTATTGACCACACACACACA 0.604 DNA polymerases (catalytic subunits) 16 1187 --- --- --- --- RFC3 5983 broad.mit.edu 37 13 34398063 34398063 + Frame_Shift_Del DEL A A - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr13:34398063delA ENST00000380071.3 + 3 365 c.235delA c.(235-237)aafs p.K81fs RFC3_ENST00000434425.1_Frame_Shift_Del_p.K81fs NM_002915.3 NP_002906.1 P40938 RFC3_HUMAN replication factor C (activator 1) 3, 38kDa 81 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|response to organophosphorus|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding lung(2)|skin(1) 3 Hepatocellular(188;0.0191)|Lung SC(185;0.0548) all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123) GACTCCATCTAAAAAAAAAAT 0.269 10 236 --- --- --- --- KIAA1704 0 broad.mit.edu 37 13 45580365 45580367 + In_Frame_Del DEL GAT GAT - rs138421508 TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr13:45580365_45580367delGAT ENST00000361121.2 + 3 285_287 c.250_252delGAT c.(250-252)del p.D88del KIAA1704_ENST00000379151.4_In_Frame_Del_p.D88del|KIAA1704_ENST00000357537.3_De_novo_Start_InFrame|RP11-321C24.1_ENST00000437748.2_lincRNA Q8IXQ4 K1704_HUMAN 88 Poly-Asp. breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1) 12 Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126) Ggatgatgacgatgatgatgatg 0.335 7 958 --- --- --- --- RBM26 64062 broad.mit.edu 37 13 79918806 79918807 + Frame_Shift_Ins INS - - T TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr13:79918806_79918807insT ENST00000438737.2 - 15 2621_2622 c.2181_2182insA c.(2179-2184)aaaggafs p.G728fs RBM26_ENST00000438724.1_Frame_Shift_Ins_p.G704fs|RBM26_ENST00000267229.7_Frame_Shift_Ins_p.G701fs Q5T8P6 RBM26_HUMAN RNA binding motif protein 26 728 mRNA processing nucleotide binding|protein binding|RNA binding|zinc ion binding NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 Acute lymphoblastic leukemia(28;0.0279) GBM - Glioblastoma multiforme(99;0.0188) GTACTTACCTGTTTTTTTTTCT 0.332 7 199 --- --- --- --- CHGA 1113 broad.mit.edu 37 14 93397924 93397926 + In_Frame_Del DEL GAG GAG - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr14:93397924_93397926delGAG ENST00000216492.5 + 6 965_967 c.685_687delGAG c.(685-687)del p.E236del CHGA_ENST00000334654.4_Intron|CHGA_ENST00000553866.1_3'UTR NM_001275.3 NP_001266.1 P10645 CMGA_HUMAN chromogranin A (parathyroid secretory protein 1) 236 regulation of blood pressure extracellular region|stored secretory granule cervix(1)|large_intestine(1)|lung(3)|skin(3) 8 all_cancers(154;0.0843) Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224) AAAGAGAgaagaggaggaggagg 0.645 8 159 --- --- --- --- CSPG4P5 0 broad.mit.edu 37 15 84957480 84957499 + RNA DEL GGCCCCACATCCATTGAGAA GGCCCCACATCCATTGAGAA - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr15:84957480_84957499delGGCCCCACATCCATTGAGAA ENST00000558801.1 - 0 7230_7249 TGTGTGCACTGGCCCCACATCCATTGAGAAGGCCCCACAT 0.586 11 42 --- --- --- --- CHD2 1106 broad.mit.edu 37 15 93545433 93545434 + Frame_Shift_Ins INS - - A TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr15:93545433_93545434insA ENST00000394196.4 + 33 5232_5233 c.4164_4165insA c.(4162-4167)ataaaafs p.IK1388fs CHD2_ENST00000557381.1_Frame_Shift_Ins_p.IK1388fs NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 1388 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) AAAGTCCAATgaaaaaaaaaca 0.337 16 442 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102299886 102299887 + RNA INS - - G TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr15:102299886_102299887insG ENST00000561463.1 + 0 7932_7933 AACCTGTACTCGCGTCGGAACC 0.589 10 39 --- --- --- --- EME2 197342 broad.mit.edu 37 16 1824298 1824300 + In_Frame_Del DEL TGC TGC - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr16:1824298_1824300delTGC ENST00000307394.7 + 3 422_424 c.422_424delTGC c.(421-426)ttg>t p.LL143del EME2_ENST00000568449.1_In_Frame_Del_p.LL143del A4GXA9 EME2_HUMAN essential meiotic structure-specific endonuclease subunit 2 143 DNA recombination|DNA repair nucleus DNA binding|endonuclease activity central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1) 9 GAACAGGAATTGCTGCTGCTGCT 0.655 Direct reversal of damage;Homologous recombination 7 628 --- --- --- --- BRICD5 283870 broad.mit.edu 37 16 2260586 2260588 + In_Frame_Del DEL CAG CAG - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr16:2260586_2260588delCAG ENST00000328540.3 - 2 1231_1233 c.115_117delCTG c.(115-117)del p.L39del BRICD5_ENST00000566018.1_In_Frame_Del_p.L39del|BRICD5_ENST00000562360.1_In_Frame_Del_p.L39del NM_182563.3 NP_872369.2 BRICHOS domain containing 5 CGGCcagcaccagcagcagcagc 0.660 8 161 --- --- --- --- ARHGAP17 55114 broad.mit.edu 37 16 24942180 24942180 + Frame_Shift_Del DEL G G - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr16:24942180delG ENST00000289968.6 - 19 2509 c.2440delC c.(2440-2442)aafs p.Q814fs ARHGAP17_ENST00000303665.5_Frame_Shift_Del_p.Q736fs|ARHGAP17_ENST00000441763.2_3'UTR NM_001006634.1 NP_001006635.1 Q68EM7 RHG17_HUMAN Rho GTPase activating protein 17 814 Pro-rich. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|tight junction GTPase activator activity|SH3 domain binding breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2) 30 GBM - Glioblastoma multiforme(48;0.0407) CCAGGAGGTTGGGGGGGTGGG 0.577 7 817 --- --- --- --- SETD1A 9739 broad.mit.edu 37 16 30982809 30982811 + In_Frame_Del DEL TCC TCC - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr16:30982809_30982811delTCC ENST00000262519.8 + 13 3813_3815 c.3127_3129delTCC c.(3127-3129)del p.S1058del NM_014712.1 NP_055527.1 O15047 SET1A_HUMAN SET domain containing 1A 1058 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 59 CAGctcctcatcctcctcctcct 0.547 8 348 --- --- --- --- COQ9 57017 broad.mit.edu 37 16 57486732 57486734 + In_Frame_Del DEL GAG GAG - rs149029279 TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr16:57486732_57486734delGAG ENST00000262507.6 + 3 331_333 c.262_264delGAG c.(262-264)del p.E91del COQ9_ENST00000567933.1_In_Frame_Del_p.E91del|COQ9_ENST00000567072.1_In_Frame_Del_p.E91del|COQ9_ENST00000567384.1_3'UTR NM_020312.3 NP_064708.1 O75208 COQ9_HUMAN coenzyme Q9 91 ubiquinone biosynthetic process mitochondrion breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1) 16 CCAGGGCGGCGAGGAGGAGGAGG 0.576 9 638 --- --- --- --- ACD 65057 broad.mit.edu 37 16 67693646 67693648 + In_Frame_Del DEL GCA GCA - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr16:67693646_67693648delGCA ENST00000219251.8 - 3 873_875 c.542_544delTGC c.(541-546)cag>c p.LQ181del ACD_ENST00000393919.4_In_Frame_Del_p.LQ184del NM_001082486.1|NM_001082487.1|NM_022914.2 NP_001075955.1|NP_001075956.1|NP_075065.2 Q96AP0 ACD_HUMAN adrenocortical dysplasia homolog (mouse) 184 intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly nuclear telomere cap complex|nucleoplasm DNA binding|DNA polymerase binding p.L181delL(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) CCGCAGTCCTGCAGCAGCAGCAG 0.650 9 668 --- --- --- --- NFAT5 10725 broad.mit.edu 37 16 69726420 69726422 + In_Frame_Del DEL CAG CAG - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr16:69726420_69726422delCAG ENST00000349945.1 + 14 3962_3964 c.2410_2412delCAG c.(2410-2412)del p.Q812del NFAT5_ENST00000354436.2_In_Frame_Del_p.Q888del|NFAT5_ENST00000566899.1_In_Frame_Del_p.Q812del|NFAT5_ENST00000393742.2_In_Frame_Del_p.Q812del|NFAT5_ENST00000432919.1_In_Frame_Del_p.Q906del|NFAT5_ENST00000567239.1_In_Frame_Del_p.Q905del NM_138714.3 NP_619728.2 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5, tonicity-responsive 888 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.Q804Q(1)|p.Q898Q(1) 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 ATCTAATcaacagcagcagcagc 0.473 7 233 --- --- --- --- TCF25 22980 broad.mit.edu 37 16 89951019 89951020 + Frame_Shift_Ins INS - - A TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr16:89951019_89951020insA ENST00000263346.8 + 3 440_441 c.384_385insA c.(382-387)aaaaaafs p.KK128fs TCF25_ENST00000563406.1_3'UTR NM_014972.2 NP_055787.1 Q9BQ70 TCF25_HUMAN transcription factor 25 (basic helix-loop-helix) 128 heart development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2) 18 all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027) BRCA - Breast invasive adenocarcinoma(80;0.0288) TCCGGAAGAAGAAAAAAAAACA 0.446 7 153 --- --- --- --- MED9 55090 broad.mit.edu 37 17 17394705 17394707 + In_Frame_Del DEL CAG CAG - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr17:17394705_17394707delCAG ENST00000268711.3 + 2 393_395 c.337_339delCAG c.(337-339)del p.Q117del NM_018019.2 NP_060489.1 Q9NWA0 MED9_HUMAN mediator complex subunit 9 117 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent protein binding cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 GAGCCCCGAACAGCAGCAGCAGC 0.581 10 581 --- --- --- --- EPN2 22905 broad.mit.edu 37 17 19232950 19232950 + Frame_Shift_Del DEL A A - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr17:19232950delA ENST00000314728.5 + 9 1885 c.1401delA c.(1399-1401)tcfs p.S467fs EPN2_ENST00000395618.3_Frame_Shift_Del_p.S182fs|EPN2_ENST00000347697.2_Frame_Shift_Del_p.S410fs|EPN2_ENST00000575595.1_Frame_Shift_Del_p.S175fs|EPN2_ENST00000395626.1_Frame_Shift_Del_p.S467fs|EPN2_ENST00000571254.1_Frame_Shift_Del_p.S403fs|EPN2_ENST00000395620.2_Frame_Shift_Del_p.S410fs NM_014964.4 NP_055779.2 O95208 EPN2_HUMAN epsin 2 467 6 X 3 AA repeats of [DE]-P-W. endocytosis lipid binding p.T470fs*19(1) breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 19 all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143) TTCGGACTTCAAAAAAAACAG 0.393 7 516 --- --- --- --- SUPT6H 6830 broad.mit.edu 37 17 27027202 27027204 + In_Frame_Del DEL AGC AGC - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr17:27027202_27027204delAGC ENST00000314616.6 + 34 4856_4858 c.4573_4575delAGC c.(4573-4575)del p.S1528del SUPT6H_ENST00000347486.4_In_Frame_Del_p.S1528del NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 1528 Poly-Ser. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) CATCACCCCTAGCAGCAGCAGCA 0.537 15 1168 --- --- --- --- CCDC103 388389 broad.mit.edu 37 17 42980014 42980015 + Frame_Shift_Del DEL AG AG - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr17:42980014_42980015delAG ENST00000417826.2 + 4 653_654 c.558_559delAG c.(556-561)gcagfs p.AE186fs FAM187A_ENST00000412523.2_Intron|CCDC103_ENST00000410006.2_Frame_Shift_Del_p.AE186fs|FAM187A_ENST00000331733.4_5'UTR NM_001258399.1|NM_213607.2 NP_001245328.1|NP_998772.1 Q8IW40 CC103_HUMAN coiled-coil domain containing 103 186 p.E187K(1) endometrium(1)|kidney(1)|large_intestine(3)|prostate(1)|skin(1) 7 Prostate(33;0.109) TGAGCCGGGCAGAGAGAGAGAG 0.644 8 224 --- --- --- --- ITGB4 3691 broad.mit.edu 37 17 73732157 73732158 + Frame_Shift_Del DEL GT GT - rs121912463 TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr17:73732157_73732158delGT ENST00000200181.3 + 14 1870_1871 c.1683_1684delGT c.(1681-1686)cagtfs p.QC561fs ITGB4_ENST00000449880.2_Frame_Shift_Del_p.QC561fs|ITGB4_ENST00000579662.1_Frame_Shift_Del_p.QC561fs|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000450894.3_Frame_Shift_Del_p.QC561fs|ITGB4_ENST00000339591.3_Frame_Shift_Del_p.QC561fs NM_000213.3 NP_000204.3 P16144 ITB4_HUMAN integrin, beta 4 561 Cysteine-rich tandem repeats. cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) CCATGGGCCAGTGTGTGTGTGA 0.604 9 658 --- --- --- --- SMAD4 4089 broad.mit.edu 37 18 48591861 48591861 + Frame_Shift_Del DEL C C - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr18:48591861delC ENST00000342988.3 + 9 1562 c.1024delC c.(1024-1026)ctfs p.P342fs SMAD4_ENST00000588745.1_Frame_Shift_Del_p.P246fs|SMAD4_ENST00000398417.2_Frame_Shift_Del_p.P342fs NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 342 MH2. BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(36)|p.F339_S343del(2)|p.?(2) NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) ATTTAAGGTTCCTTCAAGCTG 0.443 105 347 --- --- --- --- ZNF236 7776 broad.mit.edu 37 18 74593429 74593430 + Frame_Shift_Ins INS - - A TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr18:74593429_74593430insA ENST00000253159.8 + 9 1570_1571 c.1372_1373insA c.(1372-1374)aaafs p.K458fs ZNF236_ENST00000320610.9_Frame_Shift_Ins_p.K460fs NM_007345.3 NP_031371.3 Q9UL36 ZN236_HUMAN zinc finger protein 236 458 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 94 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) GGATAAAAAAGAAAAAAAAATG 0.381 7 234 --- --- --- --- CRTC1 23373 broad.mit.edu 37 19 18887993 18887993 + Frame_Shift_Del DEL C C - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr19:18887993delC ENST00000338797.6 + 15 1779 c.1754delC c.(1753-1755)tcfs p.S585fs CRTC1_ENST00000594658.1_Frame_Shift_Del_p.S528fs|CRTC1_ENST00000321949.8_Frame_Shift_Del_p.S569fs|CRTC1_ENST00000601916.1_Frame_Shift_Del_p.S327fs NM_001098482.1 NP_001091952.1 Q6UUV9 CRTC1_HUMAN CREB regulated transcription coactivator 1 569 interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane cAMP response element binding protein binding|protein binding p.S572fs*6(2) CRTC1/MAML2(516) NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1) 19 ACAGGAGAGTCCCCCCCCAGC 0.637 8 364 --- --- --- --- RYR1 6261 broad.mit.edu 37 19 38948159 38948160 + Frame_Shift_Del DEL TG TG - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr19:38948159_38948160delTG ENST00000355481.4 + 17 1945_1946 c.1814_1815delTG c.(1813-1815)cfs p.L605fs RYR1_ENST00000360985.3_Frame_Shift_Del_p.L605fs|RYR1_ENST00000359596.3_Frame_Shift_Del_p.L605fs NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 605 B30.2/SPRY 1. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CTATGCTCCCTGTGTGTGTGTA 0.530 7 1078 --- --- --- --- PRX 57716 broad.mit.edu 37 19 40900180 40900182 + In_Frame_Del DEL TCC TCC - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr19:40900180_40900182delTCC ENST00000324001.7 - 7 4347_4349 c.4077_4079delGGA c.(4075-4080)gaa>ga p.EE1359del PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 1359 Poly-Glu. Missing. axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) ACTGCcctcttcctcctcctcct 0.695 9 101 --- --- --- --- LILRB2 0 broad.mit.edu 37 19 54780707 54780709 + In_Frame_Del DEL GAG GAG - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr19:54780707_54780709delGAG ENST00000391748.1 - 10 1559_1561 c.1432_1434delCTC c.(1432-1434)del p.L478del LILRB2_ENST00000391746.1_In_Frame_Del_p.L479del|LILRB2_ENST00000391749.4_In_Frame_Del_p.L479del|LILRB2_ENST00000434421.1_In_Frame_Del_p.L363del|LILRB2_ENST00000314446.5_In_Frame_Del_p.L478del NM_001278403.1 NP_001265332.1 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 479 cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity p.L479L(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 44 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) ggatgaggaagaggaggaggagg 0.611 9 516 --- --- --- --- SLC23A2 9962 broad.mit.edu 37 20 4850569 4850569 + Frame_Shift_Del DEL G G - rs138961929 TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr20:4850569delG ENST00000379333.1 - 12 1625 c.1233delC c.(1231-1233)ccfs p.P411fs SLC23A2_ENST00000424750.2_Frame_Shift_Del_p.P297fs|SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000338244.1_Frame_Shift_Del_p.P411fs NM_203327.1 NP_976072.1 Q9UGH3 S23A2_HUMAN solute carrier family 23 (ascorbic acid transporter), member 2 411 L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport apical plasma membrane|integral to plasma membrane|membrane fraction nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity p.I412fs*4(1) endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 TTGCGTGGATGGGGGGGGGTG 0.527 14 375 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11085863 11085864 + RNA INS - - C TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr21:11085863_11085864insC 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) catcaccaccaccaccatcacc 0.579 7 18 --- --- --- --- RUNX1 861 broad.mit.edu 37 21 36171709 36171710 + Frame_Shift_Ins INS - - AT TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr21:36171709_36171710insAT ENST00000344691.4 - 5 2351_2352 c.774_775insAT c.(772-777)taaatafs p.I259fs RUNX1_ENST00000399240.1_Frame_Shift_Ins_p.I195fs|RUNX1_ENST00000300305.3_Frame_Shift_Ins_p.I286fs|RUNX1_ENST00000325074.5_Frame_Shift_Ins_p.I274fs|RUNX1_ENST00000437180.1_Frame_Shift_Ins_p.I286fs NM_001001890.2 NP_001001890.1 Q01196 RUNX1_HUMAN runt-related transcription factor 1 259 Pro/Ser/Thr-rich. myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent nucleus ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 452 CCCAGGTATTGGTAGGACTGAT 0.505 T """RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4""" """AML, preB- ALL, T-ALL""" 14 385 --- --- --- --- PTTG1IP 754 broad.mit.edu 37 21 46276194 46276196 + In_Frame_Del DEL GCA GCA - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr21:46276194_46276196delGCA ENST00000330938.3 - 4 581_583 c.361_363delTGC c.(361-363)del p.C121del PTTG1IP_ENST00000445724.2_Intron|PTTG1IP_ENST00000397886.3_In_Frame_Del_p.C100del|PTTG1IP_ENST00000397887.3_Intron|PTTG1IP_ENST00000494690.1_5'UTR NM_004339.3 NP_004330.1 P53801 PTTG_HUMAN pituitary tumor-transforming 1 interacting protein 121 Poly-Cys. protein import into nucleus cytoplasm|integral to membrane|nucleus ovary(1)|prostate(1) 2 Colorectal(79;0.0659) TCTTCCTCCTGCAGCAGCAGCAG 0.616 7 319 --- --- --- --- TPTEP1 0 broad.mit.edu 37 22 17127506 17127507 + RNA INS - - A TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr22:17127506_17127507insA ENST00000426585.1 + 0 442 AGGGCCTAGAGAAAAAAAAAAT 0.421 9 296 --- --- --- --- TCF20 6942 broad.mit.edu 37 22 42605990 42605992 + In_Frame_Del DEL CTG CTG - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chr22:42605990_42605992delCTG ENST00000359486.3 - 1 5456_5458 c.5320_5322delCAG c.(5320-5322)del p.Q1774del TCF20_ENST00000335626.4_In_Frame_Del_p.Q1774del|TCF20_ENST00000404876.1_In_Frame_Del_p.Q75del NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 1774 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 TCTGCTCCTTCTGCTGCTGCTGC 0.601 7 472 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76931742 76931744 + In_Frame_Del DEL TCA TCA - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chrX:76931742_76931744delTCA ENST00000373344.5 - 10 4000_4002 c.3786_3788delTGA c.(3784-3789)gac>ga p.DD1262del ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_In_Frame_Del_p.DD1224del NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1262 Poly-Asp. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) ATCATTGTCGTCATCATCATCAT 0.379 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 7 391 --- --- --- --- BHLHB9 80823 broad.mit.edu 37 X 102004419 102004421 + In_Frame_Del DEL GAG GAG - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chrX:102004419_102004421delGAG ENST00000372735.1 + 4 1081_1083 c.496_498delGAG c.(496-498)del p.E171del BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del|BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del Q6PI77 BHLH9_HUMAN basic helix-loop-helix domain containing, class B, 9 171 Poly-Glu. cytoplasm|nucleus binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 GTCAGGGGCTGAGGAGGAGGAGG 0.488 15 530 --- --- --- --- SPANXN3 139067 broad.mit.edu 37 X 142605149 142605149 + Frame_Shift_Del DEL T T - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chrX:142605149delT ENST00000370503.2 - 1 154 c.71delA c.(70-72)atfs p.N24fs NM_001009609.2 NP_001009609.1 Q5MJ09 SPXN3_HUMAN SPANX family, member N3 24 endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1) 14 Acute lymphoblastic leukemia(192;6.56e-05) TACCTCATCATTTTTTTTGTT 0.453 9 389 --- --- --- --- PASD1 139135 broad.mit.edu 37 X 150817142 150817144 + In_Frame_Del DEL GCT GCT - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chrX:150817142_150817144delGCT ENST00000370357.4 + 9 930_932 c.685_687delGCT c.(685-687)del p.A236del NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 236 Poly-Ala. nucleus signal transducer activity p.A229A(2) breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) CGTTGAACCCgctgctgctgctg 0.433 7 368 --- --- --- --- SLC9B1P1 0 broad.mit.edu 37 Y 13501672 13501674 + In_Frame_Del DEL AAT AAT - TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 380e7781-277f-4143-bd2d-0245a20a970f b0c12efc-9a63-411b-8c7b-7e693ecbaf7a g.chrY:13501672_13501674delAAT ENST00000331172.6 - 4 534_536 c.535_537delATT c.(535-537)del p.I179del TCTTACCAACAATATTTGATTCA 0.241 8 79 --- --- --- ---