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 QSER1 79832 broad.mit.edu 37 11 32997949 32997949 + Missense_Mutation SNP G G A TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr11:32997949G>A ENST00000399302.2 + 13 5472 c.5137G>A c.(5137-5139)Gta>Ata p.V1713I QSER1_ENST00000527788.1_Missense_Mutation_p.V1474I NM_001076786.1 NP_001070254.1 Q2KHR3 QSER1_HUMAN glutamine and serine rich 1 1713 breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 48 Breast(20;0.158) TATGAAAAATGTAAAATGGGT 0.318000 5 56 0 0 1 0 0 GLYCTK 132158 broad.mit.edu 37 3 52326966 52326966 + Missense_Mutation SNP A A T TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr3:52326966A>T ENST00000436784.2 + 5 1456 c.1396A>T c.(1396-1398)Aca>Tca p.T466S GLYCTK_ENST00000305690.8_Intron|GLYCTK_ENST00000461183.1_Intron|GLYCTK-AS1_ENST00000493616.1_RNA|GLYCTK_ENST00000477382.1_3'UTR|GLYCTK_ENST00000473032.1_Intron|GLYCTK_ENST00000471180.1_Intron|GLYCTK_ENST00000354773.4_3'UTR Q8IVS8 GLCTK_HUMAN glycerate kinase 466 protein phosphorylation Golgi apparatus|mitochondrion ATP binding|glycerate kinase activity|protein binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1) 9 BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235) GGCCTGGGTCACACCTGAGCT 0.617000 11 22 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141291667 141291667 + Missense_Mutation SNP C C T TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr2:141291667C>T ENST00000389484.3 - 47 8656 c.7685G>A c.(7684-7686)cGc>cAc p.R2562H NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2562 LDL-receptor class A 12. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AATGCAGCGGCGATTATAGCA 0.363000 TSP Lung(27;0.18) 14 41 0 0 1 0 0 SP140 11262 broad.mit.edu 37 2 231112746 231112746 + Missense_Mutation SNP G G C TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr2:231112746G>C ENST00000392045.3 + 8 972 c.858G>C c.(856-858)gaG>gaC p.E286D SP140_ENST00000343805.6_Missense_Mutation_p.E260D|SP140_ENST00000350136.5_Intron|SP140_ENST00000417495.3_Intron|SP140_ENST00000486687.2_Intron|SP140_ENST00000420434.3_Missense_Mutation_p.E286D NM_007237.4 NP_009168.4 Q13342 LY10_HUMAN SP140 nuclear body protein 286 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) AAGACAAGGAGAAGTACCAAG 0.507000 4 29 0 0 1 0 0 PDZRN4 29951 broad.mit.edu 37 12 41900472 41900472 + Missense_Mutation SNP C C A TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr12:41900472C>A ENST00000298919.7 + 4 666 c.278C>A c.(277-279)aCc>aAc p.T93N PDZRN4_ENST00000402685.2_Missense_Mutation_p.T353N|PDZRN4_ENST00000539469.2_Missense_Mutation_p.T95N Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 353 ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) CGTCCACCTACCCCTCCAGTG 0.493000 6 31 0.00198382 0.00217097 1 1 0 GLB1L3 112937 broad.mit.edu 37 11 134151337 134151337 + Silent SNP G G C TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr11:134151337G>C ENST00000389887.5 + 4 2925 c.429G>C c.(427-429)ctG>ctC p.L143L GLB1L3_ENST00000431683.2_Silent_p.L143L Q8NCI6 GLBL3_HUMAN galactosidase, beta 1-like 3 143 carbohydrate metabolic process cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1) 13 all_hematologic(175;0.127) all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559) Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222) ACCTGGACCTGGAGTATGTGG 0.537000 17 143 0 0 1 0 0 MAOB 4129 broad.mit.edu 37 X 43655005 43655005 + Missense_Mutation SNP A A C TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chrX:43655005A>C ENST00000378069.4 - 7 896 c.749T>G c.(748-750)cTa>cGa p.L250R MAOB_ENST00000538942.1_Missense_Mutation_p.L234R|MAOB_ENST00000536181.1_Missense_Mutation_p.L234R NM_000898.4 NP_000889.3 P27338 AOFB_HUMAN monoamine oxidase B 250 xenobiotic metabolic process integral to membrane|mitochondrial outer membrane electron carrier activity|primary amine oxidase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5) 21 Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752) CTCATGGTTTAGGGTCTCCAC 0.418000 16 24 0 0 1 0 0 ATG14 22863 broad.mit.edu 37 14 55848900 55848900 + Silent SNP T T A TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr14:55848900T>A ENST00000247178.5 - 6 692 c.657A>T c.(655-657)gcA>gcT p.A219A NM_014924.4 NP_055739.2 Q6ZNE5 BAKOR_HUMAN autophagy related 14 219 autophagic vacuole assembly|positive regulation of autophagy autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane protein binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2) 13 AAGACACATCTGCGGGGTCTC 0.493000 17 46 0 0 1 0 0 GAD2 2572 broad.mit.edu 37 10 26559644 26559644 + Missense_Mutation SNP G G A TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr10:26559644G>A ENST00000376261.3 + 10 1554 c.1051G>A c.(1051-1053)Gct>Act p.A351T GAD2_ENST00000259271.3_Missense_Mutation_p.A351T NM_001134366.1 NP_001127838.1 Q05329 DCE2_HUMAN glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) 351 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 L-Glutamic Acid(DB00142) CTTAGCTGTCGCTGACATTTG 0.493000 15 143 0 0 1 0 0 CXorf58 254158 broad.mit.edu 37 X 23956757 23956757 + Missense_Mutation SNP G G C TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chrX:23956757G>C ENST00000379211.3 + 8 1428 c.879G>C c.(877-879)atG>atC p.M293I NM_001169574.1|NM_152761.2 NP_001163045.1|NP_689974.2 Q96LI9 CX058_HUMAN chromosome X open reading frame 58 293 breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1) 14 AAGCTCAAATGAAAGTTGAAA 0.348000 22 20 0 0 1 0 0 HSD17B7 51478 broad.mit.edu 37 1 162769603 162769603 + Missense_Mutation SNP G G A TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr1:162769603G>A ENST00000367917.3 + 5 586 c.518G>A c.(517-519)aGt>aAt p.S173N HSD17B7_ENST00000485405.1_3'UTR|HSD17B7_ENST00000254521.3_Missense_Mutation_p.S173N P56937 DHB7_HUMAN hydroxysteroid (17-beta) dehydrogenase 7 173 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane 3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity p.S173N(4) endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1) 9 all_hematologic(112;0.115) NADH(DB00157) TCATCTCGCAGTGCAAGGAAA 0.458000 4 54 0 0 1 0 0 HOXD8 3234 broad.mit.edu 37 2 176995668 176995668 + Missense_Mutation SNP C C A TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr2:176995668C>A ENST00000313173.4 + 1 1201 c.574C>A c.(574-576)Caa>Aaa p.Q192K HOXD8_ENST00000429017.1_Missense_Mutation_p.Q8K|HOXD8_ENST00000548663.1_Missense_Mutation_p.Q88K|HOXD8_ENST00000544999.1_Missense_Mutation_p.Q192K|HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000450510.2_Missense_Mutation_p.Q192K NM_001199746.1|NM_019558.3 NP_001186675.1|NP_062458.1 P13378 HXD8_HUMAN homeobox D8 192 anterior/posterior axis specification, embryo nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195) Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556) GATGAGACCACAAGGTTGGGA 0.463000 13 41 9.31168e-06 1.13701e-05 1 1 0 MIR329-1 0 broad.mit.edu 37 14 101493161 101493161 + RNA SNP A A T TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr14:101493161A>T ENST00000385028.1 + 0 40 NR_029967.1 TGTTTCTTTAATGAGGACGAA 0.468000 5 216 0 0 1 0 0 EFCC1 79825 broad.mit.edu 37 3 128755841 128755841 + Missense_Mutation SNP G G C TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr3:128755841G>C ENST00000436022.2 + 6 1471 c.160G>C c.(160-162)Gaa>Caa p.E54Q EFCC1_ENST00000480450.1_Missense_Mutation_p.E491Q NM_024768.2 NP_079044.2 EF-hand and coiled-coil domain containing 1 GCAGAAGGTGGAAGAGAATGA 0.597000 6 51 0 0 1 0 0 CCT8 10694 broad.mit.edu 37 21 30439889 30439889 + Silent SNP C C G TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr21:30439889C>G ENST00000286788.4 - 4 575 c.369G>C c.(367-369)ctG>ctC p.L123L CCT8_ENST00000542732.1_Silent_p.L104L|CCT8_ENST00000540844.1_Silent_p.L50L|CCT8_ENST00000470450.1_5'UTR NM_006585.2 NP_006576.2 P50990 TCPQ_HUMAN chaperonin containing TCP1, subunit 8 (theta) 123 'de novo' posttranslational protein folding aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center ATP binding|ATPase activity, coupled|unfolded protein binding breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3) 14 CTGAAACTGACAGGCCAATCC 0.358000 12 35 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82764229 82764229 + Silent SNP A A G TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr7:82764229A>G ENST00000423517.2 - 3 2974 c.2637T>C c.(2635-2637)ccT>ccC p.P879P PCLO_ENST00000333891.8_Silent_p.P879P NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 825 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GTCGTGGGCCAGGGGGTGTTG 0.517000 22 204 0 0 1 0 0 TBCE 6905 broad.mit.edu 37 1 235597548 235597548 + Silent SNP C C T TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr1:235597548C>T ENST00000543662.1 + 9 949 c.843C>T c.(841-843)ggC>ggT p.G281G TBCE_ENST00000366601.3_Silent_p.G230G|TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000406207.1_Silent_p.G230G Q15813 TBCE_HUMAN tubulin folding cofactor E 230 'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway cytoplasm|microtubule|nucleus|plasma membrane chaperone binding NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 14 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238) OV - Ovarian serous cystadenocarcinoma(106;2.56e-05) GGTGCCCAGGCCTGGAGGAAC 0.502000 8 84 0 0 1 0 0 SERTAD4 56256 broad.mit.edu 37 1 210414981 210414981 + Missense_Mutation SNP G G C TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr1:210414981G>C ENST00000367012.3 + 4 600 c.370G>C c.(370-372)Gtg>Ctg p.V124L SERTAD4_ENST00000490620.1_3'UTR NM_019605.3 NP_062551.1 Q9NUC0 SRTD4_HUMAN SERTA domain containing 4 124 SERTA. protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127) TGATCCTGAAGTGTACCTCCG 0.368000 17 86 0 0 1 0 0 RALGAPA2 57186 broad.mit.edu 37 20 20517346 20517346 + Nonsense_Mutation SNP G G T TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr20:20517346G>T ENST00000202677.6 - 25 3510 c.3368C>A c.(3367-3369)tCa>tAa p.S1123* NM_020343.3 NP_065076.2 Q2PPJ7 RGPA2_HUMAN Ral GTPase activating protein, alpha subunit 2 (catalytic) 1123 activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 54 TTCTGGCACTGACTGCAGTAA 0.443000 5 8 0.0293803 0.0298958 1 1 0 TLR2 7097 broad.mit.edu 37 4 154625865 154625865 + Missense_Mutation SNP C C G TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr4:154625865C>G ENST00000260010.6 + 1 3214 c.1806C>G c.(1804-1806)atC>atG p.I602M NM_003264.3 NP_003255.2 O60603 TLR2_HUMAN toll-like receptor 2 602 cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 29 all_hematologic(180;0.093) Renal(120;0.117) TCCTGCTGATCCTGCTCACGG 0.582000 4 37 0 0 1 0 0 RGS6 9628 broad.mit.edu 37 14 73029174 73029174 + Nonstop_Mutation SNP G G C TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr14:73029174G>C ENST00000553530.1 + 17 1625 c.1418G>C c.(1417-1419)tGa>tCa p.*473S RGS6_ENST00000554782.1_Intron|RP3-514A23.2_ENST00000555303.1_lincRNA|RGS6_ENST00000555571.1_Nonstop_Mutation_p.*473S|RGS6_ENST00000556437.1_Nonstop_Mutation_p.*491S|RGS6_ENST00000402788.2_Nonstop_Mutation_p.*473S|RGS6_ENST00000343854.6_Nonstop_Mutation_p.*454S|RGS6_ENST00000553525.1_Nonstop_Mutation_p.*491S NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5 NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3 P49758 RGS6_HUMAN regulator of G-protein signaling 6 0 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476) CAGTCCTCCTGACCGTTCCTA 0.667000 6 25 0 0 1 0 0 NRXN3 9369 broad.mit.edu 37 14 79175953 79175953 + Missense_Mutation SNP G G T TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr14:79175953G>T ENST00000554719.1 + 4 987 c.496G>T c.(496-498)Gat>Tat p.D166Y RP11-232C2.2_ENST00000555680.1_RNA|NRXN3_ENST00000335750.5_Missense_Mutation_p.D166Y NM_004796.4 NP_004787.2 Q9HDB5 NRX3B_HUMAN neurexin 3 170 Laminin G-like. angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) GAAAGCCAATGATGGGGAATG 0.502000 16 49 0.000566183 0.00065027 1 1 0 H2AFX 3014 broad.mit.edu 37 11 118966003 118966003 + Silent SNP C C T TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr11:118966003C>T ENST00000530167.1 - 1 174 c.102G>A c.(100-102)ctG>ctA p.L34L NM_002105.2 NP_002096.1 P16104 H2AX_HUMAN H2A histone family, member X 34 DNA damage checkpoint|double-strand break repair via homologous recombination|meiosis|nucleosome assembly|positive regulation of DNA repair|response to ionizing radiation nucleoplasm|nucleosome DNA binding|enzyme binding|histone binding lung(3) 3 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.47e-05) CCTTCCGCAGCAGCCGGTGTA 0.726000 Chromatin Structure OREG0021395 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 13 0 0 1 0 0 LRRC8B 23507 broad.mit.edu 37 1 90048805 90048805 + Missense_Mutation SNP T T C TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr1:90048805T>C ENST00000330947.2 + 5 956 c.596T>C c.(595-597)aTa>aCa p.I199T LRRC8B_ENST00000358200.4_Missense_Mutation_p.I199T|RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000439853.1_Missense_Mutation_p.I199T NM_001134476.1 NP_001127948.1 Q6P9F7 LRC8B_HUMAN leucine rich repeat containing 8 family, member B 199 integral to membrane breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 26 all_lung(203;0.17) all cancers(265;0.00515)|Epithelial(280;0.0241) TCAGCTGACATAGATTCCGGC 0.527000 10 41 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186072727 186072727 + Missense_Mutation SNP G G T rs41317483 byFrequency TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr1:186072727G>T ENST00000271588.4 + 69 10926 c.10697G>T c.(10696-10698)gGc>gTc p.G3566V HMCN1_ENST00000367492.2_Missense_Mutation_p.G3566V NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 3566 Ig-like C2-type 34. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 ATGAAAGATGGCCGGCCCCTT 0.433000 3 50 0.004672 0.00501807 1 1 0 NFATC1 4772 broad.mit.edu 37 18 77170782 77170782 + Silent SNP G G A rs146706357 TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr18:77170782G>A ENST00000253506.5 + 2 876 c.507G>A c.(505-507)tcG>tcA p.S169S NFATC1_ENST00000587635.1_Silent_p.S169S|NFATC1_ENST00000329101.4_Silent_p.S156S|NFATC1_ENST00000591814.1_Silent_p.S169S|NFATC1_ENST00000592223.1_Silent_p.S156S|NFATC1_ENST00000586434.1_Silent_p.S156S|NFATC1_ENST00000542384.1_Silent_p.S169S|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000318065.5_Silent_p.S156S|NFATC1_ENST00000427363.2_Silent_p.S169S NM_006162.3 NP_006153.2 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 169 Trans-activation domain A (TAD-A). intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1) 40 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) GAGACCCCTCGTGCCTGAGCC 0.657000 10 32 0 0 1 0 0 MYH6 4624 broad.mit.edu 37 14 23866242 23866242 + Missense_Mutation SNP C C T TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr14:23866242C>T ENST00000405093.3 - 18 2168 c.2098G>A c.(2098-2100)Gtg>Atg p.V700M MYH6_ENST00000356287.3_Missense_Mutation_p.V700M NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 700 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) CCCTCCAGCACGCCATTGCAG 0.617000 7 22 0 0 1 0 0 KIF1C 10749 broad.mit.edu 37 17 4927385 4927385 + Missense_Mutation SNP C C T TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr17:4927385C>T ENST00000320785.5 + 23 3608 c.3251C>T c.(3250-3252)cCc>cTc p.P1084L NM_006612.5 NP_006603.2 O43896 KIF1C_HUMAN kinesin family member 1C 1084 Pro-rich. microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER endoplasmic reticulum|Golgi apparatus|microtubule ATP binding|microtubule motor activity NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3) 30 TACACTACTCCCCCACGAATG 0.652000 12 22 0 0 1 0 0 PLCE1 51196 broad.mit.edu 37 10 95993811 95993811 + Splice_Site SNP G G A TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr10:95993811G>A ENST00000260766.3 + 6 2590 c.1955_splice c.e6-1 p.R652_splice PLCE1_ENST00000371375.1_Splice_Site_p.R344_splice|PLCE1_ENST00000371385.3_Splice_Site_p.R344_splice|PLCE1_ENST00000371380.2_Splice_Site_p.R652_splice NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 652 Ras-GEF. activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) CTTGCAATAGGTCAAGAAAAG 0.373000 4 20 0 0 1 0 0 OR11H6 122748 broad.mit.edu 37 14 20692478 20692478 + Missense_Mutation SNP G G A TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr14:20692478G>A ENST00000315519.2 + 1 688 c.610G>A c.(610-612)Gca>Aca p.A204T NM_001004480.1 NP_001004480.1 Q8NGC7 O11H6_HUMAN olfactory receptor, family 11, subfamily H, member 6 204 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2) 29 all_cancers(95;0.00108) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0143) CCCATTGTTTGCACTGGCCTG 0.488000 14 37 0 0 1 0 0 MCM3AP 8888 broad.mit.edu 37 21 47693423 47693423 + Missense_Mutation SNP C C T TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr21:47693423C>T ENST00000397708.1 - 8 2329 c.2075G>A c.(2074-2076)cGg>cAg p.R692Q MCM3AP_ENST00000291688.1_Missense_Mutation_p.R692Q O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 associated protein 692 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 72 Breast(49;0.112) TGGCAAGGGCCGCAGCTCGTG 0.612000 11 32 0 0 1 0 0 OLFML2B 25903 broad.mit.edu 37 1 161989785 161989785 + Missense_Mutation SNP G G A TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr1:161989785G>A ENST00000294794.3 - 2 785 c.362C>T c.(361-363)cCc>cTc p.P121L OLFML2B_ENST00000367940.2_Missense_Mutation_p.P121L NM_015441.1 NP_056256.1 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B 121 breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) GGCCGATGGGGGTGCTACACA 0.602000 5 29 0 0 1 0 0 NEU2 4759 broad.mit.edu 37 2 233899168 233899168 + Missense_Mutation SNP C C T rs144556397 by1000genomes TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr2:233899168C>T ENST00000233840.3 + 2 544 c.544C>T c.(544-546)Cgg>Tgg p.R182W NM_005383.2 NP_005374.2 Q9Y3R4 NEUR2_HUMAN sialidase 2 (cytosolic sialidase) 182 R -> Q (in dbSNP:rs2233393). exo-alpha-sialidase activity endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1) 18 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488) CTACGCCTACCGGAAACTTCA 0.657000 6 21 0 0 1 0 0 TBX20 57057 broad.mit.edu 37 7 35293132 35293132 + Missense_Mutation SNP C C A TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr7:35293132C>A ENST00000408931.3 - 1 626 c.100G>T c.(100-102)Gcg>Tcg p.A34S NM_001077653.2|NM_001166220.1 NP_001071121.1|NP_001159692.1 Q9UMR3 TBX20_HUMAN T-box 20 34 nucleus DNA binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1) 18 TTCTCCGTCGCCTCCTTCTCC 0.647000 4 30 0.00909568 0.0095054 1 1 0 NQO1 1728 broad.mit.edu 37 16 69745151 69745151 + Missense_Mutation SNP A A T TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr16:69745151A>T ENST00000320623.5 - 6 1064 c.553T>A c.(553-555)Tta>Ata p.L185I NQO1_ENST00000379047.3_Missense_Mutation_p.L151I|NQO1_ENST00000561500.1_Missense_Mutation_p.L147I|NQO1_ENST00000564043.1_Missense_Mutation_p.L164I|NQO1_ENST00000379046.2_Missense_Mutation_p.L147I|NQO1_ENST00000439109.2_Missense_Mutation_p.L113I NM_000903.2 NP_000894.1 P15559 NQO1_HUMAN NAD(P)H dehydrogenase, quinone 1 185 nitric oxide biosynthetic process|regulation of cellular amino acid metabolic process|response to toxin|synaptic transmission, cholinergic|xenobiotic metabolic process cytosol coenzyme binding|cytochrome-b5 reductase activity|electron carrier activity|NAD(P)H dehydrogenase (quinone) activity autonomic_ganglia(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1) 10 Dicumarol(DB00266)|Menadione(DB00170) TGAGGTTCTAAGACTTGGAAG 0.448000 20 167 0 0 1 0 0 HECTD4 283450 broad.mit.edu 37 12 112608163 112608163 + Missense_Mutation SNP G G T TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr12:112608163G>T ENST00000550722.1 - 69 11983 c.11588C>A c.(11587-11589)aCc>aAc p.T3863N HECTD4_ENST00000377560.5_Missense_Mutation_p.T3837N|HECTD4_ENST00000430131.2_Missense_Mutation_p.T3587N NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 TGGGTCCAAGGTGATCTCAGG 0.527000 6 39 8.12818e-05 9.52393e-05 1 1 0 LRRC55 219527 broad.mit.edu 37 11 56950004 56950004 + Missense_Mutation SNP A A G TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr11:56950004A>G ENST00000497933.1 + 1 784 c.637A>G c.(637-639)Agt>Ggt p.S213G NM_001005210.2 NP_001005210.1 Q6ZSA7 LRC55_HUMAN leucine rich repeat containing 55 183 LRRCT. integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2) 25 CCTGGACCTCAGTTATGGGGG 0.652000 12 38 0 0 1 0 0 ZSCAN4 201516 broad.mit.edu 37 19 58190197 58190197 + Missense_Mutation SNP C C G TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr19:58190197C>G ENST00000318203.5 + 5 1923 c.1226C>G c.(1225-1227)tCc>tGc p.S409C NM_152677.2 NP_689890.1 Q8NAM6 ZSCA4_HUMAN zinc finger and SCAN domain containing 4 409 telomere maintenance via telomere lengthening|viral reproduction nuclear chromosome, telomeric region DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1) 30 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CGCCAGTCATCCACATACCAC 0.473000 25 71 0 0 1 0 0 KCNT2 343450 broad.mit.edu 37 1 196392206 196392206 + Missense_Mutation SNP G G A TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr1:196392206G>A ENST00000367433.5 - 12 1260 c.1159C>T c.(1159-1161)Cgt>Tgt p.R387C KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000294725.8_Missense_Mutation_p.R387C|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.R387C Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 387 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 ACTTCACAACGGCTACTGAGA 0.308000 11 25 0 0 1 0 0 NXPE4 54827 broad.mit.edu 37 11 114442009 114442009 + Missense_Mutation SNP G G T TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr11:114442009G>T ENST00000375478.3 - 6 1466 c.1286C>A c.(1285-1287)aCt>aAt p.T429N NXPE4_ENST00000424261.2_Missense_Mutation_p.T145N NM_001077639.1 NP_001071107.1 neurexophilin and PC-esterase domain family, member 4 AACAATGACAGTATTTTTTTC 0.428000 5 133 0.00116845 0.00131592 1 1 0 DET1 55070 broad.mit.edu 37 15 89074818 89074818 + Missense_Mutation SNP C C T TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr15:89074818C>T ENST00000564406.1 - 3 312 c.152G>A c.(151-153)cGa>cAa p.R51Q DET1_ENST00000444300.1_Missense_Mutation_p.R51Q|DET1_ENST00000558413.1_Intron|DET1_ENST00000268148.8_Missense_Mutation_p.R40Q NM_017996.3 NP_060466.2 Q7L5Y6 DET1_HUMAN de-etiolated homolog 1 (Arabidopsis) 40 nucleus endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Lung NSC(78;0.105)|all_lung(78;0.182) BRCA - Breast invasive adenocarcinoma(143;0.188) ATGGAACACTCGGACTTGGTG 0.483000 11 61 0 0 1 0 0 CLTC 1213 broad.mit.edu 37 17 57754537 57754537 + Silent SNP G G T TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr17:57754537G>T ENST00000269122.3 + 17 3058 c.2784G>T c.(2782-2784)ctG>ctT p.L928L CLTC_ENST00000393043.1_Silent_p.L928L|CLTC_ENST00000579456.1_Intron NM_004859.3 NP_004850.1 Q00610 CLH1_HUMAN clathrin, heavy chain (Hc) 928 Heavy chain arm.|Proximal segment. axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle protein binding|structural molecule activity CLTC/ALK(44)|CLTC/TFE3(2) breast(2)|large_intestine(6)|ovary(1) 9 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) AATGTGATCTGGAACTTATTA 0.398000 T """ALK, TFE3""" """ALCL, renal """ 6 46 0.00198382 0.00217097 1 1 0 ERI2 112479 broad.mit.edu 37 16 20814811 20814811 + Missense_Mutation SNP A A G TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr16:20814811A>G ENST00000357967.4 - 3 161 c.119T>C c.(118-120)aTt>aCt p.I40T ERI2_ENST00000564349.1_5'UTR|ERI2_ENST00000563117.1_5'UTR|ERI2_ENST00000300005.3_Missense_Mutation_p.I40T|ERI2_ENST00000569729.1_Missense_Mutation_p.I40T|ERI2_ENST00000389345.5_5'UTR NM_001142725.1 NP_001136197.1 A8K979 ERI2_HUMAN ERI1 exoribonuclease family member 2 40 Exonuclease. intracellular exonuclease activity|nucleic acid binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(2) 11 TTCAAAATCAATGACAATTAA 0.408000 22 35 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82545234 82545234 + Missense_Mutation SNP C C T TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr7:82545234C>T ENST00000423517.2 - 7 12405 c.12068G>A c.(12067-12069)aGc>aAc p.S4023N PCLO_ENST00000333891.8_Missense_Mutation_p.S4023N|PCLO_ENST00000437081.1_Missense_Mutation_p.S743N NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3954 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TATTGGACTGCTTGCCATGCT 0.393000 38 57 0 0 1 0 0 ITSN2 50618 broad.mit.edu 37 2 24526684 24526684 + Nonsense_Mutation SNP G G A TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr2:24526684G>A ENST00000355123.4 - 9 1284 c.841C>T c.(841-843)Cag>Tag p.Q281* ITSN2_ENST00000406921.3_Nonsense_Mutation_p.Q281*|ITSN2_ENST00000361999.3_Nonsense_Mutation_p.Q281* NM_006277.2 NP_006268.2 Q9NZM3 ITSN2_HUMAN intersectin 2 281 EH 2. endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1) 61 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTAGCCAGCTGAGTTTGAGAA 0.313000 15 36 0 0 1 0 0 SULF2 55959 broad.mit.edu 37 20 46313221 46313221 + Missense_Mutation SNP C C T rs116302994 byFrequency TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr20:46313221C>T ENST00000359930.4 - 6 1693 c.842G>A c.(841-843)cGg>cAg p.R281Q SULF2_ENST00000484875.1_Missense_Mutation_p.R281Q|SULF2_ENST00000467815.1_Missense_Mutation_p.R281Q|SULF2_ENST00000361612.4_Missense_Mutation_p.R281Q|CTD-2653D5.1_ENST00000526566.2_RNA NM_018837.3 NP_061325.1 Q8IWU5 SULF2_HUMAN sulfatase 2 281 bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 CAAGCGCTTCCGCTGGAGCAT 0.627000 4 9 0 0 1 0 0 AKT3 10000 broad.mit.edu 37 1 243809322 243809322 + Missense_Mutation SNP G G C TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr1:243809322G>C ENST00000366539.1 - 5 502 c.302C>G c.(301-303)gCt>gGt p.A101G AKT3_ENST00000366540.1_Missense_Mutation_p.A101G|AKT3_ENST00000336199.5_Missense_Mutation_p.A101G|AKT3_ENST00000263826.5_Missense_Mutation_p.A101G Q9Y243 AKT3_HUMAN v-akt murine thymoma viral oncogene homolog 3 101 PH. 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) AGCCTGGATAGCTTCTGTCCA 0.333000 11 26 0 0 1 0 0 KDM5A 5927 broad.mit.edu 37 12 416934 416934 + Nonsense_Mutation SNP T T A TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr12:416934T>A ENST00000399788.2 - 23 3978 c.3616A>T c.(3616-3618)Aaa>Taa p.K1206* KDM5A_ENST00000382815.4_Nonsense_Mutation_p.K1206* NM_001042603.1 NP_001036068.1 P29375 KDM5A_HUMAN lysine (K)-specific demethylase 5A 1206 chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2) 77 TTTACTTCTTTAGCTTGCCAG 0.463000 T NUP98 AML 30 75 0 0 1 0 0 CCT8 10694 broad.mit.edu 37 21 30439992 30439992 + Missense_Mutation SNP G G A TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr21:30439992G>A ENST00000286788.4 - 4 472 c.266C>T c.(265-267)gCt>gTt p.A89V CCT8_ENST00000542732.1_Missense_Mutation_p.A70V|CCT8_ENST00000540844.1_Missense_Mutation_p.A16V|CCT8_ENST00000470450.1_5'UTR NM_006585.2 NP_006576.2 P50990 TCPQ_HUMAN chaperonin containing TCP1, subunit 8 (theta) 89 'de novo' posttranslational protein folding aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center ATP binding|ATPase activity, coupled|unfolded protein binding breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3) 14 CATATGAGAAGCCATTACAAT 0.388000 10 47 0 0 1 0 0 PALD1 27143 broad.mit.edu 37 10 72289648 72289648 + Missense_Mutation SNP C C T TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr10:72289648C>T ENST00000263563.6 + 4 560 c.292C>T c.(292-294)Cgc>Tgc p.R98C NM_014431.2 NP_055246.2 phosphatase domain containing, paladin 1 CTGCCAGGGCCGCTACTTCCT 0.642000 14 17 0 0 1 0 0 AATK 9625 broad.mit.edu 37 17 79092217 79092217 + Missense_Mutation SNP C C G TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr17:79092217C>G ENST00000326724.4 - 14 4134 c.4110G>C c.(4108-4110)gaG>gaC p.E1370D AATK_ENST00000417379.1_Missense_Mutation_p.E1267D NM_001080395.2 NP_001073864.2 Q6ZMQ8 LMTK1_HUMAN apoptosis-associated tyrosine kinase 1370 integral to membrane|mitochondrion|perinuclear region of cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1) 21 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) CCTCTTTACTCTCACCCCCGG 0.647000 5 8 0 0 1 0 0 TMEM180 79847 broad.mit.edu 37 10 104228878 104228878 + Missense_Mutation SNP A A C TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr10:104228878A>C ENST00000238936.4 + 3 329 c.92A>C c.(91-93)aAt>aCt p.N31T TMEM180_ENST00000369931.3_Missense_Mutation_p.N31T|TMEM180_ENST00000450947.2_3'UTR|TMEM180_ENST00000366277.2_5'UTR NM_024789.3 NP_079065.2 Q14CX5 TM180_HUMAN transmembrane protein 180 31 integral to membrane breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1) 13 Colorectal(252;0.122) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) ATCCTGCACAATGTCTTCCTG 0.577000 10 41 0 0 1 0 0 PPAPDC1A 196051 broad.mit.edu 37 10 122348981 122348981 + Missense_Mutation SNP G G T TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr10:122348981G>T ENST00000398250.1 + 7 1135 c.783G>T c.(781-783)ttG>ttT p.L261F PPAPDC1A_ENST00000439221.1_Missense_Mutation_p.L198F|PPAPDC1A_ENST00000398248.1_3'UTR|PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.L251F NM_001030059.1 NP_001025230.1 Q5VZY2 PPC1A_HUMAN phosphatidic acid phosphatase type 2 domain containing 1A 261 phospholipid dephosphorylation integral to membrane phosphatidate phosphatase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1) 20 Lung NSC(174;0.1)|all_lung(145;0.132) all cancers(201;0.0117) CACCCAGCTTGCCTCTGGAGG 0.572000 15 32 0.000219431 0.00025454 1 1 0 SLC8A3 6547 broad.mit.edu 37 14 70634287 70634287 + Missense_Mutation SNP T T A rs143972110 byFrequency TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr14:70634287T>A ENST00000381269.2 - 2 1606 c.853A>T c.(853-855)Att>Ttt p.I285F SLC8A3_ENST00000534137.1_Missense_Mutation_p.I285F|SLC8A3_ENST00000528359.1_Missense_Mutation_p.I285F|SLC8A3_ENST00000357887.3_Missense_Mutation_p.I285F|SLC8A3_ENST00000356921.2_Missense_Mutation_p.I285F NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 285 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) TCCATCTCAATGCCCTTAGGG 0.473000 7 45 0 0 1 0 0 SLC2A3 6515 broad.mit.edu 37 12 8086490 8086490 + Silent SNP T T A TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr12:8086490T>A ENST00000075120.7 - 2 264 c.24A>T c.(22-24)ccA>ccT p.P8P NM_006931.2 NP_008862.1 P11169 GTR3_HUMAN solute carrier family 2 (facilitated glucose transporter), member 3 8 carbohydrate metabolic process|water-soluble vitamin metabolic process integral to membrane|plasma membrane D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity p.P8P(1) central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Kidney(36;0.0866) ATATCAGAGCTGGGGTGACCT 0.453000 10 39 0 0 1 0 0 SPEM1 374768 broad.mit.edu 37 17 7324689 7324689 + Missense_Mutation SNP C C A TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr17:7324689C>A ENST00000323675.3 + 3 720 c.695C>A c.(694-696)gCg>gAg p.A232E RP11-104H15.7_ENST00000575310.1_RNA NM_199339.2 NP_955371.2 Q8N4L4 SPEM1_HUMAN spermatid maturation 1 232 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|integral to membrane endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 12 Prostate(122;0.173) GAGGCAGAGGCGGCTCAGTAC 0.647000 9 20 0.00621372 0.00655265 1 1 0 IGDCC4 57722 broad.mit.edu 37 15 65703655 65703655 + Missense_Mutation SNP G G T TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr15:65703655G>T ENST00000352385.2 - 2 333 c.124C>A c.(124-126)Cca>Aca p.P42T NM_020962.1 NP_066013.1 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 4 42 Ig-like C2-type 1. integral to membrane|plasma membrane NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 44 ACTTGCAGTGGCCCCACTCCA 0.647000 5 15 0.217242 0.217242 1 1 0 CXorf56 63932 broad.mit.edu 37 X 118678353 118678353 + Missense_Mutation SNP G G A TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chrX:118678353G>A ENST00000320339.4 - 4 510 c.239C>T c.(238-240)aCg>aTg p.T80M CXorf56_ENST00000486230.1_Missense_Mutation_p.T129M|CXorf56_ENST00000371594.4_Missense_Mutation_p.T129M|CXorf56_ENST00000476164.1_Missense_Mutation_p.T129M|CXorf56_ENST00000536133.1_Missense_Mutation_p.T115M NM_001170569.1 NP_001164040.1 Q9H5V9 CX056_HUMAN chromosome X open reading frame 56 129 protein binding cervix(1)|endometrium(2)|lung(7) 10 ATATATGTTCGTTTTCCCAAA 0.423000 28 66 0 0 1 0 0 GCFC2 6936 broad.mit.edu 37 2 75917824 75917824 + Missense_Mutation SNP C C G TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr2:75917824C>G ENST00000321027.3 - 8 1299 c.1166G>C c.(1165-1167)aGt>aCt p.S389T MRPL19_ENST00000358788.6_3'UTR|GCFC2_ENST00000409857.3_Missense_Mutation_p.S351T|GCFC2_ENST00000541687.1_3'UTR NM_001201334.1|NM_003203.4 NP_001188263.1|NP_003194.3 P16383 GCF_HUMAN GC-rich sequence DNA-binding factor 2 389 negative regulation of transcription, DNA-dependent nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity GAAGTTTCCACTTGTGGATGT 0.289000 23 83 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39815268 39815268 + Missense_Mutation SNP C C G TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr1:39815268C>G ENST00000564288.1 + 42 11711 c.10934C>G c.(10933-10935)tCt>tGt p.S3645C MACF1_ENST00000361689.2_Missense_Mutation_p.S1583C|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000567887.1_Missense_Mutation_p.S3682C|MACF1_ENST00000372915.3_Missense_Mutation_p.S3650C|MACF1_ENST00000289893.4_Missense_Mutation_p.S2085C|MACF1_ENST00000539005.1_Missense_Mutation_p.S1583C|MACF1_ENST00000317713.7_Missense_Mutation_p.S1583C|MACF1_ENST00000545844.1_Missense_Mutation_p.S1583C Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 3650 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CAGGATCTCTCTGCTTTGCAG 0.498000 16 31 0 0 1 0 0 FBXO21 23014 broad.mit.edu 37 12 117603333 117603333 + Missense_Mutation SNP A A C TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr12:117603333A>C ENST00000427718.2 - 9 1357 c.1283T>G c.(1282-1284)cTc>cGc p.L428R FBXO21_ENST00000330622.5_Missense_Mutation_p.L428R NM_015002.2|NM_033624.2 NP_055817.1|NP_296373.1 O94952 FBX21_HUMAN F-box protein 21 428 ubiquitin-dependent protein catabolic process ubiquitin ligase complex ubiquitin-protein ligase activity breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 29 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0291) CCTGGCTTGGAGGAGGAGAAG 0.502000 24 55 0 0 1 0 0 TOR1AIP2 163590 broad.mit.edu 37 1 179820467 179820467 + Silent SNP T T A TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr1:179820467T>A ENST00000367612.3 - 4 453 c.66A>T c.(64-66)tcA>tcT p.S22S NM_001199260.1|NM_145034.4 NP_001186189.1|NP_659471.1 Q8NFQ8 TOIP2_HUMAN torsin A interacting protein 2 22 endoplasmic reticulum membrane|integral to membrane protein binding cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2) 18 GAGAATTTACTGATGGATCAT 0.368000 4 68 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92590447 92590447 + Silent SNP C C A TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr11:92590447C>A ENST00000298047.6 + 19 11450 c.11433C>A c.(11431-11433)gtC>gtA p.V3811V FAT3_ENST00000533797.1_Silent_p.V146V|FAT3_ENST00000525166.1_Silent_p.V3661V|FAT3_ENST00000409404.2_Silent_p.V3811V Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 3811 EGF-like 1. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TGCAGTGTGTCAGTTATGAAG 0.542000 TCGA Ovarian(4;0.039) 7 34 0.00621372 0.00655265 1 1 0 Z97634.5 0 broad.mit.edu 37 16 437314 437314 + RNA SNP G G T TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr16:437314G>T ENST00000412293.1 + 0 521 NR_024453.2 gccaagcatggtggcatgtgt 0.438000 3 6 6.4e-05 7.57551e-05 1 1 0 NR3C2 0 broad.mit.edu 37 4 149181195 149181195 + Missense_Mutation SNP G G A TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr4:149181195G>A ENST00000355292.3 - 3 2194 c.1832C>T c.(1831-1833)tCa>tTa p.S611L NR3C2_ENST00000342437.4_Missense_Mutation_p.S611L|NR3C2_ENST00000358102.3_Missense_Mutation_p.S611L|NR3C2_ENST00000344721.4_Missense_Mutation_p.S611L|NR3C2_ENST00000511528.1_Missense_Mutation_p.S611L|NR3C2_ENST00000512865.1_Missense_Mutation_p.S611L P08235 MCR_HUMAN nuclear receptor subfamily 3, group C, member 2 611 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor endoplasmic reticulum membrane|nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0614) Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421) ATGGCATCCTGAAGCCTCATC 0.403000 13 78 0 0 1 0 0 AXL 558 broad.mit.edu 37 19 41745622 41745622 + Silent SNP C C T TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr19:41745622C>T ENST00000301178.4 + 10 1499 c.1309C>T c.(1309-1311)Ctg>Ttg p.L437L AXL_ENST00000593513.1_Silent_p.L169L|AXL_ENST00000359092.3_Intron NM_001278599.1|NM_021913.3 NP_001265528.1|NP_068713.2 P30530 UFO_HUMAN AXL receptor tyrosine kinase 437 integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 48 AGTCCACCAGCTGGGTAAGGG 0.552000 17 116 0 0 1 0 0 ATF6 22926 broad.mit.edu 37 1 161789484 161789484 + Missense_Mutation SNP G G A TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr1:161789484G>A ENST00000367942.3 + 8 1038 c.971G>A c.(970-972)cGc>cAc p.R324H NM_007348.3 NP_031374.2 P18850 ATF6A_HUMAN activating transcription factor 6 324 positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1) 34 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.00953) TGTCAGTCTCGCAAGAAGAAG 0.403000 6 58 0 0 1 0 0 CNBD1 168975 broad.mit.edu 37 8 87878731 87878731 + Missense_Mutation SNP T T C rs113899610 TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr8:87878731T>C ENST00000518476.1 + 1 59 c.8T>C c.(7-9)aTg>aCg p.M3T NM_173538.2 NP_775809.1 Q8NA66 CNBD1_HUMAN cyclic nucleotide binding domain containing 1 3 breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1) 32 AAGATGCCGATGTCTTCTCTT 0.458000 5 20 0 0 1 0 0 KIRREL2 84063 broad.mit.edu 37 19 36348367 36348367 + Missense_Mutation SNP T T A TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr19:36348367T>A ENST00000360202.5 + 2 380 c.182T>A c.(181-183)cTg>cAg p.L61Q KIRREL2_ENST00000262625.7_Missense_Mutation_p.L61Q|KIRREL2_ENST00000586102.2_Missense_Mutation_p.L61Q|KIRREL2_ENST00000347900.6_Intron|KIRREL2_ENST00000592409.1_Missense_Mutation_p.L61Q|NPHS1_ENST00000591817.1_Intron NM_032123.5|NM_199180.2 NP_115499.4|NP_954649.2 Q6UWL6 KIRR2_HUMAN kin of IRRE like 2 (Drosophila) 61 Ig-like C2-type 1. cell adhesion integral to membrane|plasma membrane breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 48 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) AAGAGTGGGCTGGCCCTAGGG 0.652000 16 58 0 0 1 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117432749 117432749 + Missense_Mutation SNP G G T TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr7:117432749G>T ENST00000160373.3 - 4 592 c.501C>A c.(499-501)aaC>aaA p.N167K CTTNBP2_ENST00000487820.1_5'UTR NM_033427.2 NP_219499.1 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 167 breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) CCACCTGCTTGTTCTTGCCAC 0.522000 16 78 5.01169e-05 5.99337e-05 1 1 0 SEC24C 9632 broad.mit.edu 37 10 75529481 75529481 + Missense_Mutation SNP C C G TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr10:75529481C>G ENST00000339365.2 + 20 2834 c.2672C>G c.(2671-2673)tCt>tGt p.S891C SEC24C_ENST00000540668.1_Missense_Mutation_p.S139C|SEC24C_ENST00000535742.1_Missense_Mutation_p.S139C|SEC24C_ENST00000496827.1_3'UTR|SEC24C_ENST00000345254.4_Missense_Mutation_p.S891C|SEC24C_ENST00000411652.2_Missense_Mutation_p.S772C NM_004922.3 NP_004913.2 P53992 SC24C_HUMAN SEC24 family member C 891 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 Prostate(51;0.0112) AGCCCCTCCTCTGCAGGACAG 0.502000 6 52 0 0 1 0 0 GNAI2 2771 broad.mit.edu 37 3 50290538 50290538 + Missense_Mutation SNP G G A TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr3:50290538G>A ENST00000313601.6 + 4 770 c.386G>A c.(385-387)cGg>cAg p.R129Q GNAI2_ENST00000536647.1_Missense_Mutation_p.R48Q|GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000440628.1_Missense_Mutation_p.R77Q|GNAI2_ENST00000266027.5_Missense_Mutation_p.R113Q|GNAI2_ENST00000422163.1_Missense_Mutation_p.R113Q|GNAI2_ENST00000451956.1_Missense_Mutation_p.R92Q NM_002070.2 NP_002061.1 P04899 GNAI2_HUMAN guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 129 adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission centrosome|heterotrimeric G-protein complex|midbody G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651) GGCGTCATCCGGAGGCTCTGG 0.642000 57 127 0 0 1 0 0 PLA2G7 7941 broad.mit.edu 37 6 46678365 46678365 + Missense_Mutation SNP C C T TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr6:46678365C>T ENST00000274793.7 - 8 890 c.694G>A c.(694-696)Gct>Act p.A232T PLA2G7_ENST00000541026.1_Missense_Mutation_p.A105T|PLA2G7_ENST00000537365.1_Missense_Mutation_p.A232T|PLA2G7_ENST00000538237.1_Missense_Mutation_p.A187T NM_005084.3 NP_005075.3 Q13093 PAFA_HUMAN phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) 232 inflammatory response|lipid catabolic process extracellular space 1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1) 14 Lung(136;0.192) AGACTGAGAGCTTGGGAACAT 0.313000 16 39 0 0 1 0 0 RNF32 140545 broad.mit.edu 37 7 156469181 156469181 + Silent SNP C C T TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr7:156469181C>T ENST00000405335.1 + 10 1330 c.921C>T c.(919-921)cgC>cgT p.R307R RNF32_ENST00000392743.2_Silent_p.R307R|RNF32_ENST00000343665.4_Silent_p.R283R|RNF32_ENST00000317955.5_Silent_p.R307R|RNF32_ENST00000311822.8_3'UTR|RNF32_ENST00000432459.2_Silent_p.R307R|AC005534.9_ENST00000430825.1_RNA Q9H0A6 RNF32_HUMAN ring finger protein 32 307 R -> C (in dbSNP:rs2302146). aggresome|endosome protein binding|zinc ion binding cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2) 15 Ovarian(565;0.218) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00291) UCEC - Uterine corpus endometrioid carcinoma (81;0.169) GCGGTCAGCGCGTGGGTGCAG 0.667000 6 20 0 0 1 0 0 CNTN3 5067 broad.mit.edu 37 3 74315728 74315728 + Silent SNP G G A TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr3:74315728G>A ENST00000263665.6 - 21 2917 c.2890C>T c.(2890-2892)Ctg>Ttg p.L964L CNTN3_ENST00000477856.1_5'UTR NM_020872.1 NP_065923.1 Q9P232 CNTN3_HUMAN contactin 3 (plasmacytoma associated) 964 Fibronectin type-III 4. cell adhesion anchored to membrane|plasma membrane protein binding p.L964M(1) NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 83 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) TTAATGGGCAGCACAAGTTCA 0.393000 4 140 0 0 1 0 0 CD209 30835 broad.mit.edu 37 19 7810767 7810767 + Missense_Mutation SNP G G A rs146082308 TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr19:7810767G>A ENST00000315599.7 - 4 407 c.385C>T c.(385-387)Cgg>Tgg p.R129W CD209_ENST00000301357.8_Missense_Mutation_p.R85W|CD209_ENST00000394161.5_Intron|CD209_ENST00000602261.1_Missense_Mutation_p.R129W|CD209_ENST00000593660.1_Missense_Mutation_p.R105W|CD209_ENST00000601951.1_Missense_Mutation_p.R105W|CD209_ENST00000315591.8_Missense_Mutation_p.R105W|CD209_ENST00000204801.8_Missense_Mutation_p.R85W|CD209_ENST00000601256.1_Missense_Mutation_p.R105W|CD209_ENST00000593821.1_Missense_Mutation_p.R85W|CD209_ENST00000394173.4_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.R129W NM_001144895.1|NM_001144897.1|NM_021155.3 NP_001138367.1|NP_001138369.1|NP_066978.1 Q9NNX6 CD209_HUMAN CD209 molecule 129 7 X approximate tandem repeats. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding p.R129W(4) endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 GCCTTCAGCCGGGTCAGCTCC 0.567000 5 155 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1271515 1271515 + Missense_Mutation SNP G G A TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr11:1271515G>A ENST00000447027.1 + 31 13472 c.13414G>A c.(13414-13416)Gcc>Acc p.A4472T MUC5B_ENST00000529681.1_Missense_Mutation_p.A4469T Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 4469 23 X approximate tandem repeats, Ser/Thr- rich.|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) CACGGCCACCGCCTCCTCCAC 0.672000 19 63 0 0 1 0 0 SCG2 7857 broad.mit.edu 37 2 224462648 224462648 + Silent SNP C C T rs143843249 byFrequency TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr2:224462648C>T ENST00000305409.2 - 2 1585 c.1353G>A c.(1351-1353)tcG>tcA p.S451S NM_003469.4 NP_003460.2 P13521 SCG2_HUMAN secretogranin II 451 angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion extracellular space|stored secretory granule chemoattractant activity|cytokine activity NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 44 Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271) Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008) TGGGAAAATACGACGTTTTCT 0.488000 26 61 0 0 1 0 0 POTEM 641455 broad.mit.edu 37 14 20010235 20010235 + Missense_Mutation SNP A A G TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr14:20010235A>G ENST00000551509.1 - 5 974 c.923T>C c.(922-924)gTt>gCt p.V308A RP11-244H18.1_ENST00000547584.1_lincRNA NM_001145442.1 NP_001138914.1 A6NI47 POTEM_HUMAN POTE ankyrin domain family, member M 308 endometrium(4)|kidney(1)|lung(4) 9 AAGTATGAGAACAGTTCTAAA 0.368000 3 56 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126370935 126370935 + Missense_Mutation SNP G G T TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr4:126370935G>T ENST00000394329.3 + 9 8777 c.8764G>T c.(8764-8766)Gcc>Tcc p.A2922S FAT4_ENST00000335110.5_Missense_Mutation_p.A1220S NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 2922 Cadherin 28. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CAGGATTAATGCCACCACTGG 0.348000 27 54 1.77063e-15 2.25707e-15 1 1 0 MUT 4594 broad.mit.edu 37 6 49425723 49425723 + Missense_Mutation SNP C C A TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr6:49425723C>A ENST00000274813.3 - 3 561 c.434G>T c.(433-435)gGc>gTc p.G145V NM_000255.3 NP_000246.2 P22033 MUTA_HUMAN methylmalonyl CoA mutase 145 G -> S (in MMAM; mut0). fatty acid beta-oxidation mitochondrial matrix cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 30 Lung NSC(77;0.0376) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TGAATCATAGCCACGATGTGT 0.403000 21 48 3.28513e-13 4.09758e-13 1 1 0 ITPRIP 85450 broad.mit.edu 37 10 106075031 106075031 + Missense_Mutation SNP G G T TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr10:106075031G>T ENST00000278071.2 - 3 1231 c.779C>A c.(778-780)aCc>aAc p.T260N ITPRIP_ENST00000337478.1_Missense_Mutation_p.T260N|ITPRIP_ENST00000358187.2_Missense_Mutation_p.T260N NM_033397.2 NP_203755.1 Q8IWB1 IPRI_HUMAN inositol 1,4,5-trisphosphate receptor interacting protein 260 plasma membrane breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1) 20 CCCGAGCTTGGTCTTGCCGCA 0.642000 5 47 3.59834e-05 4.34799e-05 1 1 0 PI4KA 5297 broad.mit.edu 37 22 21167790 21167790 + Silent SNP G G A TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr22:21167790G>A ENST00000255882.6 - 8 947 c.861C>T c.(859-861)tcC>tcT p.S287S PI4KA_ENST00000572273.1_Silent_p.S229S NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha 229 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) CGGGCAAGCAGGAGGCTGGTG 0.517000 3 31 0 0 1 0 0 OR51A4 401666 broad.mit.edu 37 11 4967661 4967661 + Missense_Mutation SNP T T C TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr11:4967661T>C ENST00000380373.2 - 1 695 c.670A>G c.(670-672)Aag>Gag p.K224E MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001005329.1 NP_001005329.1 Q8NGJ6 O51A4_HUMAN olfactory receptor, family 51, subfamily A, member 4 224 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) AGTACAGTCTTGAGGATCAGG 0.423000 9 34 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3240713 3240713 + Missense_Mutation SNP G G T TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chrX:3240713G>T ENST00000217939.6 - 5 3167 c.3013C>A c.(3013-3015)Ccc>Acc p.P1005T NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1005 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) CAGATGGTGGGGGTTGGAGTA 0.463000 16 39 6.94344e-10 8.5685e-10 1 1 0 KCNE3 10008 broad.mit.edu 37 11 74168427 74168427 + Missense_Mutation SNP A A T TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr11:74168427A>T ENST00000310128.4 - 3 601 c.182T>A c.(181-183)aTt>aAt p.I61N KCNE3_ENST00000525550.1_Missense_Mutation_p.I61N|RP11-702H23.4_ENST00000533008.1_RNA NM_005472.4 NP_005463.1 Q9Y6H6 KCNE3_HUMAN potassium voltage-gated channel, Isk-related family, member 3 61 integral to membrane voltage-gated potassium channel activity cervix(1)|large_intestine(1)|lung(1)|ovary(1) 4 Breast(11;2.86e-06) GACAAAGAGAATGTACATGTA 0.557000 9 28 0 0 1 0 0 KIF21A 55605 broad.mit.edu 37 12 39760856 39760856 + Silent SNP G G A TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr12:39760856G>A ENST00000395670.3 - 5 1130 c.711C>T c.(709-711)acC>acT p.T237T KIF21A_ENST00000361418.5_Silent_p.T237T|KIF21A_ENST00000541463.2_Silent_p.T237T|KIF21A_ENST00000544797.2_Silent_p.T237T|KIF21A_ENST00000361961.3_Silent_p.T237T Q7Z4S6 KI21A_HUMAN kinesin family member 21A 237 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) GACACACTCTGGTTTGACACA 0.378000 6 46 0 0 1 0 0 LAMA2 3908 broad.mit.edu 37 6 129636711 129636711 + Missense_Mutation SNP G G C TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr6:129636711G>C ENST00000421865.2 + 25 3695 c.3646G>C c.(3646-3648)Gag>Cag p.E1216Q NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 1216 Laminin IV type A 2. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) TCAACATCCAGAGATTGTTGC 0.473000 3 73 0 0 1 0 0 NFAM1 150372 broad.mit.edu 37 22 42807644 42807644 + Missense_Mutation SNP G G T TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr22:42807644G>T ENST00000329021.5 - 2 257 c.220C>A c.(220-222)Caa>Aaa p.Q74K NM_145912.5 NP_666017.1 Q8NET5 NFAM1_HUMAN NFAT activating protein with ITAM motif 1 74 Ig-like V-type. B cell differentiation|inflammatory response|intracellular signal transduction|positive regulation of B cell receptor signaling pathway|positive regulation of cytokine production|positive regulation of sequence-specific DNA binding transcription factor activity integral to membrane|intracellular|plasma membrane transmembrane receptor activity large_intestine(1)|lung(3) 4 ACCTTGAATTGGGGAGTGTAT 0.542000 5 58 0.0215528 0.022125 1 1 0 COL4A3BP 10087 broad.mit.edu 37 5 74685512 74685512 + Splice_Site SNP C C G TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr5:74685512C>G ENST00000380494.5 - 13 1866 c.1572_splice c.e13-1 p.V525_splice COL4A3BP_ENST00000261415.7_Splice_Site_p.V371_splice|COL4A3BP_ENST00000405807.4_Splice_Site_p.V397_splice NM_001130105.1 NP_001123577.1 Q9Y5P4 C43BP_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) binding protein 397 START. ER to Golgi ceramide transport|immune response cytosol|endoplasmic reticulum membrane|Golgi apparatus ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1) 16 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174) OV - Ovarian serous cystadenocarcinoma(47;1e-53) ATCTCTTCAACCTTGAGAAGG 0.408000 11 16 0 0 1 0 0 EHBP1L1 254102 broad.mit.edu 37 11 65343824 65343824 + Silent SNP G G A TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr11:65343824G>A ENST00000309295.4 + 1 316 c.51G>A c.(49-51)aaG>aaA p.K17K NM_001099409.1 NP_001092879.1 Q8N3D4 EH1L1_HUMAN EH domain binding protein 1-like 1 17 central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 GGGCGGCCAAGTTCCAGTTCG 0.692000 3 3 0 0 1 0 0 MUT 4594 broad.mit.edu 37 6 49425724 49425724 + Missense_Mutation SNP C C A TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr6:49425724C>A ENST00000274813.3 - 3 560 c.433G>T c.(433-435)Ggc>Tgc p.G145C NM_000255.3 NP_000246.2 P22033 MUTA_HUMAN methylmalonyl CoA mutase 145 G -> S (in MMAM; mut0). fatty acid beta-oxidation mitochondrial matrix cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 30 Lung NSC(77;0.0376) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GAATCATAGCCACGATGTGTC 0.403000 21 47 1.64293e-13 2.07152e-13 1 1 0 ARHGAP9 64333 broad.mit.edu 37 12 57866445 57866445 + Missense_Mutation SNP C C T TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr12:57866445C>T ENST00000393797.2 - 21 2513 c.2321G>A c.(2320-2322)cGc>cAc p.R774H ARHGAP9_ENST00000393791.3_Missense_Mutation_p.R684H|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.R500H|ARHGAP9_ENST00000424809.2_3'UTR|ARHGAP9_ENST00000550288.1_3'UTR|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.R703H Q9BRR9 RHG09_HUMAN Rho GTPase activating protein 9 703 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1) 30 GBM - Glioblastoma multiforme(3;3.37e-34) GGGTGTCATGCGATTCTTATC 0.517000 15 33 0 0 1 0 0 CEP120 153241 broad.mit.edu 37 5 122717825 122717825 + Missense_Mutation SNP C C G TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr5:122717825C>G ENST00000306467.5 - 14 2387 c.2083G>C c.(2083-2085)Gaa>Caa p.E695Q CEP120_ENST00000306481.6_Missense_Mutation_p.E669Q|CEP120_ENST00000328236.5_Missense_Mutation_p.E695Q Q8N960 CE120_HUMAN centrosomal protein 120kDa 695 centrosome breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 29 ACTAGTGATTCTCTTTCTCGG 0.363000 18 79 0 0 1 0 0 CRIM1 51232 broad.mit.edu 37 2 36691745 36691745 + Missense_Mutation SNP C C G TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr2:36691745C>G ENST00000280527.2 + 5 1305 c.938C>G c.(937-939)tCt>tGt p.S313C NM_016441.2 NP_057525.1 Q9NZV1 CRIM1_HUMAN cysteine rich transmembrane BMP regulator 1 (chordin-like) 313 nervous system development|regulation of cell growth extracellular region|integral to membrane|plasma membrane insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 45 all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154) CGCATAGTCTCTCGTGGCGAT 0.498000 14 90 0 0 1 0 0 SLC5A8 160728 broad.mit.edu 37 12 101587521 101587521 + Missense_Mutation SNP G G C TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr12:101587521G>C ENST00000536262.2 - 5 1132 c.574C>G c.(574-576)Caa>Gaa p.Q192E NM_145913.3 NP_666018.3 Q8N695 SC5A8_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8 192 apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 ATCCCAACTTGAAAAACATCT 0.398000 4 88 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856730 53856730 + Silent SNP G G A TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr19:53856730G>A ENST00000458035.1 + 4 2919 c.2802G>A c.(2800-2802)aaG>aaA p.K934K ZNF845_ENST00000595091.1_Silent_p.K934K NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 934 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K934K(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 TAATTCATAAGACAATTCATA 0.368000 3 25 0 0 1 0 0 FANCM 57697 broad.mit.edu 37 14 45645392 45645392 + Silent SNP C C T TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr14:45645392C>T ENST00000267430.5 + 14 3520 c.3435C>T c.(3433-3435)gaC>gaT p.D1145D FANCM_ENST00000542564.2_Silent_p.D1119D NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 1145 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 CAGAGTTCGACGATGTGAGTC 0.388000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 30 61 0 0 1 0 0 LPIN1 23175 broad.mit.edu 37 2 11955224 11955224 + Nonsense_Mutation SNP A A T TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr2:11955224A>T ENST00000256720.2 + 17 2245 c.2152A>T c.(2152-2154)Aaa>Taa p.K718* LPIN1_ENST00000404113.2_Nonsense_Mutation_p.K219*|LPIN1_ENST00000396097.1_Nonsense_Mutation_p.K448*|LPIN1_ENST00000449576.2_Nonsense_Mutation_p.K803*|LPIN1_ENST00000425416.2_Nonsense_Mutation_p.K724*|LPIN1_ENST00000396099.1_Nonsense_Mutation_p.K760* NM_145693.2 NP_663731.1 Q14693 LPIN1_HUMAN lipin 1 718 C-LIP. fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization cytosol|endoplasmic reticulum membrane phosphatidate phosphatase activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 45 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173) GAATGGATATAAATTTCTCTA 0.502000 3 33 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110420367 110420367 + Nonsense_Mutation SNP G G T TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr8:110420367G>T ENST00000378402.5 + 18 2007 c.1903G>T c.(1903-1905)Gag>Tag p.E635* NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 635 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) ACCCAACTTGGAGACATTCAC 0.413000 HNSCC(38;0.096) 6 49 0.0215528 0.022125 1 1 0 CDH8 1006 broad.mit.edu 37 16 61689558 61689558 + Silent SNP T T C TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr16:61689558T>C ENST00000577390.1 - 11 2676 c.1722A>G c.(1720-1722)ttA>ttG p.L574L CDH8_ENST00000577730.1_Silent_p.L574L|CDH8_ENST00000299345.6_Silent_p.L574L NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 574 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) TTATGATTGGTAAAAGATAGA 0.408000 8 39 0 0 1 0 0 SETD2 29072 broad.mit.edu 37 3 47084145 47084146 + Frame_Shift_Ins INS - - G TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr3:47084145_47084146insG ENST00000409792.3 - 17 7185_7186 c.7143_7144insC c.(7141-7146)ccctccfs p.S2382fs NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 2382 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding p.P2380fs(2)|p.P1877fs(2) breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) TTGGGAGGAGAGGGGGGCGGCA 0.426 """N, F, S, Mis""" clear cell renal carcinoma 16 61 --- --- --- --- RP11-297P16.3 0 broad.mit.edu 37 4 104493231 104493231 + RNA DEL G G - TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr4:104493231delG ENST00000502936.1 + 0 189 RP11-297P16.3_ENST00000512401.1_RNA GAAGACTCCTGGGTACTCTTC 0.448 2 4 --- --- --- --- IL9 3578 broad.mit.edu 37 5 135231281 135231281 + Splice_Site DEL T T - TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr5:135231281delT ENST00000274520.1 - 2 125 c.e2-2 NM_000590.1 NP_000581.1 P15248 IL9_HUMAN interleukin 9 immune response|inflammatory response|positive regulation of cell proliferation|positive regulation of interleukin-5 biosynthetic process extracellular space cytokine activity|cytokine receptor binding|growth factor activity large_intestine(3)|lung(2)|pancreas(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TGGATCTTCCTAAAGTAGATA 0.403 12 119 --- --- --- --- RARS2 57038 broad.mit.edu 37 6 88240657 88240657 + Frame_Shift_Del DEL A A - TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr6:88240657delA ENST00000369536.5 - 9 661 c.616delT c.(616-618)atfs p.Y206fs NM_020320.3 NP_064716.2 Q5T160 SYRM_HUMAN arginyl-tRNA synthetase 2, mitochondrial 206 arginyl-tRNA aminoacylation mitochondrial matrix arginine-tRNA ligase activity|ATP binding|protein binding 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) ACTTGTACATAAACCTAAAAG 0.363 15 27 --- --- --- --- MPLKIP 136647 broad.mit.edu 37 7 40174134 40174134 + Frame_Shift_Del DEL A A - TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr7:40174134delA ENST00000306984.5 - 1 124 c.33delT c.(31-33)ccfs p.P12fs NM_138701.3 NP_619646.1 Q8TAP9 TTDN1_HUMAN M-phase specific PLK1 interacting protein 12 cell division|mitosis microtubule organizing center|nucleus CAGGGTAAGGAGGAGTTGGGG 0.667 2 4 --- --- --- --- MAFA 389692 broad.mit.edu 37 8 144511954 144511956 + In_Frame_Del DEL TGG TGG - TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr8:144511954_144511956delTGG ENST00000333480.2 - 1 620_622 c.621_623delCCA c.(619-624)cat>ca p.HH207del MAFA_ENST00000528185.1_5'UTR NM_201589.3 NP_963883.2 Q8NHW3 MAFA_HUMAN v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A 207 His-rich. insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus nucleus protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.H208delH(3) breast(1)|lung(1)|upper_aerodigestive_tract(2) 4 all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237) CGCGCCGCCAtggtggtggtggt 0.744 HNSCC(29;0.082) 3 5 --- --- --- --- QSOX2 169714 broad.mit.edu 37 9 139115851 139115855 + Splice_Site DEL ACTGA ACTGA - TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr9:139115851_139115855delACTGA ENST00000358701.5 - 4 619_622 c.584_splice c.e4+1 p.194_splice NM_181701.3 NP_859052.3 Q6ZRP7 QSOX2_HUMAN quiescin Q6 sulfhydryl oxidase 2 194 cell redox homeostasis extracellular region|integral to membrane|nuclear membrane|plasma membrane thiol oxidase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1) 22 Myeloproliferative disorder(178;0.0511) Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07) GGAGCTACTCACTGAATGGGGTCTA 0.551 23 59 --- --- --- --- AC012313.1 0 broad.mit.edu 37 19 58907569 58907571 + In_Frame_Del DEL AGG AGG - TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr19:58907569_58907571delAGG ENST00000601382.1 + 1 113_115 c.113_115delAGG c.(112-117)cag>c p.38del NM_001195135.1 NP_001182064.1 GGGGAAGACCaggaggaggagga 0.724 2 4 --- --- --- --- MX2 4600 broad.mit.edu 37 21 42771265 42771268 + Splice_Site DEL GTAA GTAA - TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22868fe7-004f-48cc-ac4e-975a7ec1b9f9 110f12ed-ca50-4832-bba5-acdccedd3746 g.chr21:42771265_42771268delGTAA ENST00000330714.3 + 10 1598 c.e10+1 MX2_ENST00000496774.1_Splice_Site NM_002463.1 NP_002454.1 P20592 MX2_HUMAN myxovirus (influenza virus) resistance 2 (mouse) response to virus|type I interferon-mediated signaling pathway cytoplasm|nucleus GTP binding|GTPase activity breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 34 Prostate(19;1.57e-07)|all_epithelial(19;0.0222) ACCCAAAAAGGTAAGTTCTGGGCA 0.456 17 85 --- --- --- ---