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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
BRPF1	7862	broad.mit.edu	37	3	9781283	9781283	+	Silent	SNP	C	T	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr3:9781283C>T	uc003bse.3	+	2	1599	c.1200C>T	c.(1198-1200)tgC>tgT	p.C400C	BRPF1_uc003bsf.3_Silent_p.C400C|BRPF1_uc003bsg.3_Silent_p.C400C|BRPF1_uc011ati.2_Silent_p.C400C	NM_004634	NP_004625	P55201	BRPF1_HUMAN	Homo sapiens bromodomain and PHD finger containing, 1 (BRPF1), transcript variant 2, mRNA.	400					histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|cytoplasm|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					GCATCCAGTGCCACAAGGCCA	0.572000														59			20		0	0	0.007413	0	0
CNKSR2	22866	broad.mit.edu	37	X	21627466	21627466	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:21627466C>A	uc004czx.2	+	19	2903	c.2423C>A	c.(2422-2424)tCt>tAt	p.S808Y	CNKSR2_uc004czw.3_Missense_Mutation_p.S808Y|CNKSR2_uc011mjn.2_Missense_Mutation_p.S759Y|CNKSR2_uc011mjo.2_Missense_Mutation_p.S778Y|CNKSR2_uc004czy.3_Missense_Mutation_p.S400Y	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA.	808					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AGGCGGCAGTCTACCCTGCCA	0.547000														66			27		4.59853e-10	5.16938e-10	0.005443	1	0
SPTBN4	57731	broad.mit.edu	37	19	41066266	41066266	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:41066266A>G	uc002ony.3	+	26	5958	c.5872A>G	c.(5872-5874)Atg>Gtg	p.M1958V	SPTBN4_uc002onx.3_Missense_Mutation_p.M1958V|SPTBN4_uc002onz.3_Missense_Mutation_p.M1958V|SPTBN4_uc010egx.3_Missense_Mutation_p.M701V|SPTBN4_uc002ooa.3_Missense_Mutation_p.M634V	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	1958					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCTCTCCTGGATGGATGGCAT	0.667000														76			13		0	0	0.001855	0	0
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	A	A	rs7266938	by1000genomes	TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr20:29625877G>A	uc010ztl.1	+	1	63	c.31G>A	c.(31-33)Gcc>Acc	p.A11T	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.A41T(2)|p.T10T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000														111			7		0	0	0.008291	0	0
MAB21L2	10586	broad.mit.edu	37	4	151504381	151504381	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr4:151504381A>G	uc003ilw.3	+	0	1305	c.200A>G	c.(199-201)gAg>gGg	p.E67G	LRBA_uc003ils.4_5'Flank|LRBA_uc003ilt.4_Intron|LRBA_uc003ilu.4_Intron|LRBA_uc010ipj.3_Intron	NM_006439	NP_006430	Q9Y586	MB212_HUMAN	Homo sapiens mab-21-like 2 (C. elegans) (MAB21L2), mRNA.	67					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		GAGGGGCTCGAGGTCATTTCG	0.602000														33			3		0	0	0.009096	0	0
GYLTL1B	120071	broad.mit.edu	37	11	45950277	45950277	+	Missense_Mutation	SNP	C	T	T	rs148029391	byFrequency	TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr11:45950277C>T	uc001nbv.1	+	13	2158	c.2047C>T	c.(2047-2049)Cgt>Tgt	p.R683C	GYLTL1B_uc001nbw.1_Missense_Mutation_p.R652C|GYLTL1B_uc001nbx.1_Missense_Mutation_p.R683C	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN	Homo sapiens glycosyltransferase-like 1B (GYLTL1B), mRNA.	683					muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		CCCCACCTATCGTGACTGCCT	0.637000														55			4		0	0	0.000602	0	0
CYTH4	27128	broad.mit.edu	37	22	37696974	37696974	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr22:37696974C>T	uc003arf.3	+	6	577	c.461C>T	c.(460-462)cCg>cTg	p.P154L	CYTH4_uc003are.2_Missense_Mutation_p.P154L|CYTH4_uc011amw.2_Missense_Mutation_p.P97L	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN	Homo sapiens cytohesin 4 (CYTH4), mRNA.	154	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						TTCCGGCTGCCGGGCGAGGCC	0.667000														18			3		0	0	0.004672	0	0
HSF5	124535	broad.mit.edu	37	17	56540259	56540259	+	Missense_Mutation	SNP	G	C	C			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr17:56540259G>C	uc002iwi.1	-	3	1550	c.1426C>G	c.(1426-1428)Cag>Gag	p.Q476E		NM_001080439	NP_001073908	Q4G112	HSF5_HUMAN	Homo sapiens heat shock transcription factor family member 5 (HSF5), mRNA.	476						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCAGATTCCTGTATTGTGCTA	0.468000														75			85		0	0	0.014410	0	0
ACOT4	122970	broad.mit.edu	37	14	74060453	74060453	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr14:74060453G>A	uc001xoo.3	+	1	759	c.505G>A	c.(505-507)Ggc>Agc	p.G169S		NM_152331	NP_689544	Q8N9L9	ACOT4_HUMAN	Homo sapiens acyl-CoA thioesterase 4 (ACOT4), mRNA.	169					acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		TATTGGAGGGGGCCTCTTGGA	0.428000														59			21		0	0	0.010504	0	0
WFIKKN2	124857	broad.mit.edu	37	17	48917362	48917362	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr17:48917362G>A	uc002isv.4	+	1	1407	c.713G>A	c.(712-714)cGg>cAg	p.R238Q	WFIKKN2_uc010dbu.3_Missense_Mutation_p.R145Q	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	Homo sapiens WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 (WFIKKN2), mRNA.	238	Ig-like C2-type.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			GGCCGGCCCCGGCCTGAGATC	0.622000														41			7		0	0	0.003080	0	0
FFAR2	2867	broad.mit.edu	37	19	35940980	35940980	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:35940980C>T	uc002nzg.2	+	1	444	c.364C>T	c.(364-366)Cgg>Tgg	p.R122W	FFAR2_uc010eea.3_Missense_Mutation_p.R122W	NM_005306	NP_005297	O15552	FFAR2_HUMAN	Homo sapiens free fatty acid receptor 2 (FFAR2), mRNA.	122						integral to plasma membrane	G-protein coupled receptor activity|lipid binding	p.R122R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCTCTCCCGCCGGCCTCTGTA	0.567000														61			4		0	0	0.009096	0	0
CPT1B	1375	broad.mit.edu	37	22	51011381	51011381	+	Silent	SNP	G	C	C			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr22:51011381G>C	uc003bmm.3	-	10	1374	c.1275C>G	c.(1273-1275)tcC>tcG	p.S425S	CPT1B_uc003bmk.4_Silent_p.S425S|CPT1B_uc003bml.3_Silent_p.S425S|CPT1B_uc003bmo.3_Silent_p.S425S|CPT1B_uc011asa.2_Silent_p.S391S|CPT1B_uc003bmn.3_Silent_p.S425S|CPT1B_uc011asb.2_Intron|CPT1B_uc003bmp.3_Silent_p.S222S|CPT1B_uc021wsc.1_Non-coding_Transcript	NM_004377	NP_689452	Q92523	CPT1B_HUMAN	Homo sapiens carnitine palmitoyltransferase 1B (muscle) (CPT1B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	425					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CATAGGAGTAGGATTCCTCAT	0.602000														66			5		0	0	0.001168	0	0
JMJD6	23210	broad.mit.edu	37	17	74716489	74716489	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr17:74716489C>T	uc002jso.3	-	4	1357	c.1033G>A	c.(1033-1035)Gac>Aac	p.D345N	JMJD6_uc002jsn.1_Missense_Mutation_p.D345N	NM_015167	NP_055982	Q6NYC1	JMJD6_HUMAN	Homo sapiens jumonji domain containing 6 (JMJD6), transcript variant 2, mRNA.	345	Ser-rich.				RNA splicing|mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|sprouting angiogenesis|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding			endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						CTGGAAGAGTCGCTGGAGCTG	0.582000														75			10		0	0	0.006214	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186934577	186934577	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:186934577A>G	uc001gsc.3	+	14	1821	c.1616A>G	c.(1615-1617)gAt>gGt	p.D539G	PLA2G4A_uc010pos.2_Missense_Mutation_p.D479G	NM_024420	NP_077734	P47712	PA24A_HUMAN	Homo sapiens phospholipase A2, group IVA (cytosolic, calcium-dependent) (PLA2G4A), mRNA.	539	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	GAGCCTCTGGATGTCAAAAGT	0.353000														72			14		0	0	0.001855	0	0
TRIM13	10206	broad.mit.edu	37	13	50586329	50586329	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr13:50586329A>G	uc001vdp.1	+	3	680	c.262A>G	c.(262-264)Atc>Gtc	p.I88V	DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|TRIM13_uc001vdq.1_Missense_Mutation_p.I85V|TRIM13_uc001vdr.1_Missense_Mutation_p.I85V|TRIM13_uc001vds.1_Missense_Mutation_p.I85V|TRIM13_uc021rjq.1_Missense_Mutation_p.I85V	NM_001007278	NP_998755	O60858	TRI13_HUMAN	Homo sapiens tripartite motif containing 13 (TRIM13), transcript variant 4, mRNA.	85					ER-associated protein catabolic process|anatomical structure morphogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		GTATAACAAGATCAAGATCTC	0.438000														28			53		0	0	0.014410	0	0
EDAR	10913	broad.mit.edu	37	2	109546658	109546658	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr2:109546658C>T	uc010fjn.3	-	3	639	c.92G>A	c.(91-93)tGc>tAc	p.C31Y	EDAR_uc010yws.2_Missense_Mutation_p.C31Y|EDAR_uc002teq.4_Missense_Mutation_p.C31Y	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	Homo sapiens ectodysplasin A receptor (EDAR), mRNA.	31					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						GTTCTCACCGCAGTTTGAGTA	0.602000														34			5		0	0	0.000602	0	0
ZNF28	7576	broad.mit.edu	37	19	53311306	53311306	+	Silent	SNP	A	T	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:53311306A>T	uc002qad.3	-	2	253	c.96T>A	c.(94-96)ctT>ctA	p.L32L	ZNF28_uc002qac.3_5'UTR|ZNF28_uc010eqe.3_Intron	NM_006969	NP_008900	P17035	ZNF28_HUMAN	Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.	32	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		CATCCCTGTAAAGAGTCCTCT	0.473000														185			8		0	0	0.008361	0	0
ODZ1	10178	broad.mit.edu	37	X	123525989	123525989	+	Silent	SNP	A	G	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:123525989A>G	uc010nqy.3	-	27	5665	c.5601T>C	c.(5599-5601)aaT>aaC	p.N1867N	ODZ1_uc011muj.2_Silent_p.N1866N|ODZ1_uc004euj.3_Silent_p.N1860N	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1860					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	p.N1862K(1)		NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						CCATTTTTTCATTCCACGTTC	0.393000														53			20		0	0	0.014323	0	0
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	G	G	rs138671696	by1000genomes	TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr17:62968690A>G	uc002jez.3	-	3		c.641T>C			AMZ2P1_uc002jfa.3_Non-coding_Transcript|AMZ2P1_uc002jfb.3_Non-coding_Transcript|AMZ2P1_uc010del.2_Non-coding_Transcript					Homo sapiens archaelysin family metallopeptidase 2 pseudogene 1 (AMZ2P1), non-coding RNA.																		AAAATTCCACAAGTCTCTTGG	0.373000														114			6		0	0	0.001168	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma									43			22		0	0	0.012319	0	0
OR5M3	219482	broad.mit.edu	37	11	56237501	56237501	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr11:56237501G>T	uc010rjk.2	-	0	514	c.473C>A	c.(472-474)aCa>aAa	p.T158K	OR8U8_uc001nit.2_Intron	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 3 (OR5M3), mRNA.	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T158A(1)|p.T158P(1)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					AGTCCATAATGTTGCTGCCAG	0.428000														91			28		4.87955e-14	5.60118e-14	0.005443	1	0
DNAH8	1769	broad.mit.edu	37	6	38690922	38690922	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr6:38690922C>T	uc021yzh.1	+	1	446	c.337C>T	c.(337-339)Cgc>Tgc	p.R113C	DNAH8_uc003ooe.2_5'UTR	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.									p.R113C(1)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CTCCAGATACCGCCGGAGTAT	0.488000														26			25		0	0	0.004656	0	0
SACM1L	22908	broad.mit.edu	37	3	45744968	45744968	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr3:45744968A>G	uc003cos.2	+	1	275	c.71A>G	c.(70-72)gAt>gGt	p.D24G	SACM1L_uc011bag.1_5'UTR|SACM1L_uc011bah.1_Missense_Mutation_p.M1V	NM_014016	NP_054735	Q9NTJ5	SAC1_HUMAN	Homo sapiens SAC1 suppressor of actin mutations 1-like (yeast) (SACM1L), mRNA.	24						Golgi apparatus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		GAAGCTTGTGATGATGGAGCA	0.358000														52			18		0	0	0.008871	0	0
FLG	2312	broad.mit.edu	37	1	152284454	152284454	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:152284454G>T	uc001ezu.1	-	2	2944	c.2908C>A	c.(2908-2910)Cat>Aat	p.H970N	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	970	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATCCACGATGGTTTCTGGAA	0.582000									Ichthyosis					450			63		1.41401e-22	1.68236e-22	0.014410	1	0
XK	7504	broad.mit.edu	37	X	37553613	37553613	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:37553613G>A	uc004ddq.3	+	1	402	c.320G>A	c.(319-321)aGg>aAg	p.R107K		NM_021083	NP_066569	P51811	XK_HUMAN	Homo sapiens X-linked Kx blood group (McLeod syndrome) (XK), mRNA.	107					amino acid transport	integral to membrane	protein binding|transporter activity			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				ACCAAGAAGAGGCAAATGCCA	0.468000														23			7		0	0	0.001984	0	0
GAK	2580	broad.mit.edu	37	4	861174	861174	+	Missense_Mutation	SNP	C	G	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr4:861174C>G	uc003gbm.4	-	20	2641	c.2442G>C	c.(2440-2442)gaG>gaC	p.E814D	GAK_uc003gbn.4_Missense_Mutation_p.E735D|GAK_uc010ibk.1_Missense_Mutation_p.E708D|GAK_uc010ibj.3_Non-coding_Transcript|GAK_uc003gbl.4_Missense_Mutation_p.E678D	NM_005255	NP_005246	O14976	GAK_HUMAN	Homo sapiens cyclin G associated kinase (GAK), mRNA.	814					cell cycle	Golgi apparatus|focal adhesion|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CAGACTCGCTCTCCTTGGAAG	0.587000														90			18		0	0	0.006122	0	0
IKBKE	9641	broad.mit.edu	37	1	206649566	206649566	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:206649566G>A	uc001hdz.2	+	5	979	c.401G>A	c.(400-402)cGc>cAc	p.R134H	IKBKE_uc009xbu.2_Missense_Mutation_p.R134H|IKBKE_uc001hea.2_Missense_Mutation_p.R49H|IKBKE_uc009xbv.2_Missense_Mutation_p.R134H	NM_014002	NP_001180250	Q14164	IKKE_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon (IKBKE), transcript variant 1, mRNA.	134	Protein kinase.				DNA damage response, signal transduction resulting in induction of apoptosis|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	PML body|cytosol|endosome membrane|plasma membrane	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding	p.R134R(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					ATTGTGCATCGCGACATCAAG	0.622000														68			5		0	0	0.001168	0	0
SCAF1	58506	broad.mit.edu	37	19	50156700	50156700	+	Silent	SNP	A	C	C			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:50156700A>C	uc002poq.3	+	6	3178	c.3054A>C	c.(3052-3054)cgA>cgC	p.R1018R		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	Homo sapiens SR-related CTD-associated factor 1 (SCAF1), mRNA.	1018	Glu-rich.				RNA splicing|mRNA processing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CTGGGGTCCGAGGTGGGGCgg	0.657000														6			182		0	0	0.014410	0	0
SLC4A3	6508	broad.mit.edu	37	2	220497018	220497018	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr2:220497018G>A	uc002vmo.4	+	7	1285	c.1076G>A	c.(1075-1077)cGc>cAc	p.R359H	SLC4A3_uc002vmp.4_Missense_Mutation_p.R332H|SLC4A3_uc010fwm.3_5'UTR|SLC4A3_uc010fwn.1_5'UTR	NM_201574	NP_963868	P48751	B3A3_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA.	332					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATGCTGGACCGCAGCCAGGAG	0.667000														34			4		0	0	0.001168	0	0
NFATC4	4776	broad.mit.edu	37	14	24839464	24839464	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr14:24839464G>A	uc001wpc.3	+	1	1181	c.860G>A	c.(859-861)cGt>cAt	p.R287H	NFATC4_uc010alr.3_Missense_Mutation_p.R350H|NFATC4_uc010tok.2_Missense_Mutation_p.R350H|NFATC4_uc010tol.2_Missense_Mutation_p.R350H|NFATC4_uc010als.2_Missense_Mutation_p.R300H|NFATC4_uc010too.2_Missense_Mutation_p.R300H|NFATC4_uc010tom.2_Missense_Mutation_p.R300H|NFATC4_uc010ton.2_Missense_Mutation_p.R300H|NFATC4_uc010toq.2_Missense_Mutation_p.R319H|NFATC4_uc010alt.3_Missense_Mutation_p.R319H|NFATC4_uc010top.2_Missense_Mutation_p.R319H|NFATC4_uc010alu.3_Intron|NFATC4_uc010tor.2_Missense_Mutation_p.R287H|NFATC4_uc010tos.2_Missense_Mutation_p.R217H|NFATC4_uc010tot.2_Missense_Mutation_p.R275H|NFATC4_uc010tou.2_Missense_Mutation_p.R217H|NFATC4_uc010tov.2_Missense_Mutation_p.R275H|NFATC4_uc010tow.2_Missense_Mutation_p.R217H|NFATC4_uc010alv.3_Missense_Mutation_p.R275H|NFATC4_uc010tox.2_Missense_Mutation_p.R217H|NFATC4_uc001wpd.3_5'Flank|NFATC4_uc010toy.2_5'Flank|NFATC4_uc010toz.2_5'Flank	NM_004554	NP_001185895	Q14934	NFAC4_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 (NFATC4), transcript variant 2, mRNA.	287	2 approximate SP repeats.|Pro-rich.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.R287S(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CTGTCCCGCCGTGGCAGCCTG	0.706000														19			18		0	0	0.006122	0	0
MEOX2	4223	broad.mit.edu	37	7	15652021	15652021	+	Silent	SNP	C	T	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr7:15652021C>T	uc003stc.3	-	2	1187	c.906G>A	c.(904-906)gcG>gcA	p.A302A		NM_005924	NP_005915	P50222	MEOX2_HUMAN	Homo sapiens mesenchyme homeobox 2 (MEOX2), mRNA.	302					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A302A(4)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		ATCATAAGTGCGCATGCTCTG	0.478000														66			9		0	0	0.006214	0	0
ADAM2	2515	broad.mit.edu	37	8	39695695	39695695	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr8:39695695C>T	uc003xnj.3	-	0	85	c.10G>A	c.(10-12)Gtc>Atc	p.V4I	ADAM2_uc003xnk.3_Missense_Mutation_p.V4I|ADAM2_uc011lck.2_Missense_Mutation_p.V4I|ADAM2_uc003xnl.3_Missense_Mutation_p.V4I	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	4					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.R3H(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		AGAAACAAGACGCGCCACATG	0.612000														31			5		0	0	0.000602	0	0
PARL	55486	broad.mit.edu	37	3	183580581	183580581	+	Silent	SNP	C	T	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr3:183580581C>T	uc003fmd.3	-	3	530	c.471G>A	c.(469-471)aaG>aaA	p.K157K	PARL_uc003fme.3_Silent_p.K157K	NM_018622	NP_061092	Q9H300	PARL_HUMAN	Homo sapiens presenilin associated, rhomboid-like (PARL), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	157					proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity			endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TATTCCACCACTTGTTAATCT	0.393000														46			4		0	0	0.000602	0	0
INPP5F	22876	broad.mit.edu	37	10	121551479	121551479	+	Silent	SNP	C	G	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr10:121551479C>G	uc001leo.3	+	4	759	c.543C>G	c.(541-543)acC>acG	p.T181T	INPP5F_uc001len.4_Silent_p.T181T	NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase F (INPP5F), transcript variant 1, mRNA.	181	SAC.						phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		ATAGCTTGACCTATGACCTGA	0.493000														87			5		0	0	0.000602	0	0
TLR10	81793	broad.mit.edu	37	4	38776590	38776590	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr4:38776590G>A	uc003gtj.3	-	3	1260	c.622C>T	c.(622-624)Cgt>Tgt	p.R208C	TLR10_uc021xnk.1_Missense_Mutation_p.R194C|TLR10_uc003gti.3_Missense_Mutation_p.R208C|TLR10_uc021xnl.1_Missense_Mutation_p.R208C|TLR10_uc003gtk.3_Missense_Mutation_p.R208C|TLR10_uc021xnm.1_Missense_Mutation_p.R208C	NM_030956	NP_001182037	Q9BXR5	TLR10_HUMAN	Homo sapiens toll-like receptor 10 (TLR10), transcript variant 1, mRNA.	208					MyD88-dependent toll-like receptor signaling pathway|inflammatory response|innate immune response	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						ATTCCATCACGCAAAAGAACC	0.338000														80			8		0	0	0.003080	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117012	117012	+	RNA	SNP	C	A	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrGL000205.1:117012C>A	uc002kgk.4	+	0		c.390C>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		ACCAAAGAAGCTGTATTCCCT	0.478000														9			4		0.00024832	0.000261137	0.009096	1	0
MACF1	23499	broad.mit.edu	37	1	39815264	39815264	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:39815264C>T	uc021olw.1	+	5	6250	c.6250C>T	c.(6250-6252)Ctc>Ttc	p.L2084F	MACF1_uc021ols.1_Missense_Mutation_p.L1582F|MACF1_uc001cdc.2_Missense_Mutation_p.L1582F|MACF1_uc021olt.1_Missense_Mutation_p.L1582F|MACF1_uc001cda.1_Missense_Mutation_p.L1490F|MACF1_uc001cdb.1_Missense_Mutation_p.L669F	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	3649					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|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)			CCAGCAGGATCTCTCTGCTTT	0.498000														108			15		0	0	0.004007	0	0
LOC283788	283788	broad.mit.edu	37	GL000219.1	83307	83307	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrGL000219.1:83307G>T	uc022brb.1	-	3	360	c.47C>A	c.(46-48)gCt>gAt	p.A16D	LOC283788_uc011mfq.2_Non-coding_Transcript					Homo sapiens FSHD region gene 1 pseudogene (LOC283788), non-coding RNA.																		GGCCAACAAAGCCATTTTCCC	0.373000														14			5		8.12818e-05	8.65944e-05	0.001984	1	0
C15orf2	23742	broad.mit.edu	37	15	24924470	24924470	+	Nonsense_Mutation	SNP	T	A	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr15:24924470T>A	uc001ywo.3	+	0	3930	c.3456T>A	c.(3454-3456)tgT>tgA	p.C1152*		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	1152					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		GACATGTCTGTTTCCAACTTC	0.428000														77			16		0	0	0.004007	0	0
TJP1	7082	broad.mit.edu	37	15	30058630	30058630	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr15:30058630C>T	uc001zcr.3	-	4	903	c.428G>A	c.(427-429)cGg>cAg	p.R143Q	TJP1_uc010azl.3_Missense_Mutation_p.R131Q|TJP1_uc001zcq.3_Missense_Mutation_p.R147Q|TJP1_uc001zcs.3_Missense_Mutation_p.R143Q	NM_003257	NP_003248	Q07157	ZO1_HUMAN	Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.	143					cell-cell junction assembly|cellular component disassembly involved in apoptosis	Golgi apparatus|basolateral plasma membrane|cell-cell adherens junction|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CACACCACTCCGGCCACTTCT	0.468000														65			21		0	0	0.003954	0	0
AHNAK2	113146	broad.mit.edu	37	14	105408008	105408008	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr14:105408008C>T	uc010axc.1	-	6	13900	c.13780G>A	c.(13780-13782)Gtg>Atg	p.V4594M	AHNAK2_uc021sen.1_5'UTR|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.V4494M	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	4594						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCGTCTCCACGCTGGGCAGA	0.642000														86			33		0	0	0.009535	0	0
POLR3GL	84265	broad.mit.edu	37	1	145457015	145457015	+	Missense_Mutation	SNP	C	G	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:145457015C>G	uc001enp.1	-	6	653	c.546G>C	c.(544-546)gaG>gaC	p.E182D		NM_032305	NP_115681	Q9BT43	RPC7L_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like (POLR3GL), mRNA.	182	Glu-rich.									endometrium(2)|large_intestine(1)|lung(1)	4	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					cttcatcatactcttcttctt	0.478000														25			7		0	0	0.001984	0	0
NKAP	79576	broad.mit.edu	37	X	119070601	119070601	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:119070601C>A	uc004esh.3	-	2	679	c.512G>T	c.(511-513)aGc>aTc	p.S171I	NKAP_uc004esg.3_Missense_Mutation_p.S58I	NM_024528	NP_078804	Q8N5F7	NKAP_HUMAN	Homo sapiens NFKB activating protein (NKAP), mRNA.	171					Notch signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						TGAAGTAGTGCTTTTCTTTGG	0.294000														48			15		3.52763e-06	3.80797e-06	0.004990	1	0
PTPRH	5794	broad.mit.edu	37	19	55710148	55710148	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:55710148G>A	uc002qjq.3	-	7	1626	c.1553C>T	c.(1552-1554)aCt>aTt	p.T518I	PTPRH_uc010esv.3_Missense_Mutation_p.T340I|PTPRH_uc002qjs.2_Missense_Mutation_p.T525I	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	518	Fibronectin type-III 6.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CCTGGGGTCAGTCATGCCTTC	0.592000														30			10		0	0	0.008291	0	0
ZNF30	90075	broad.mit.edu	37	19	35434793	35434793	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:35434793G>T	uc010edq.1	+	4	1304	c.926G>T	c.(925-927)aGa>aTa	p.R309I	ZNF30_uc002nxf.2_Missense_Mutation_p.R227I|ZNF30_uc010edp.1_Missense_Mutation_p.R308I|ZNF30_uc010edr.1_Missense_Mutation_p.R309I	NM_001099437	NP_001092908	P17039	ZNF30_HUMAN	Homo sapiens zinc finger protein 30 (ZNF30), transcript variant 2, mRNA.	308					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		AAGCATCAGAGAATTCATACT	0.448000														64			33		1.36161e-19	1.60828e-19	0.004289	1	0
MAGEA3	4102	broad.mit.edu	37	X	151935721	151935721	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:151935721A>G	uc022chl.1	-	0	446	c.446T>C	c.(445-447)gTg>gCg	p.V149A	MAGEA3_uc004fgp.3_Missense_Mutation_p.V149A	NM_005362	NP_005353	P43357	MAGA3_HUMAN	Homo sapiens melanoma antigen family A, 3 (MAGEA3), mRNA.	149	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GCTGAAGATCACAGGAAAGAA	0.517000														107			83		0	0	0.014410	0	0
SULT2B1	6820	broad.mit.edu	37	19	49094919	49094919	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:49094919C>A	uc002pjl.3	+	3	558	c.477C>A	c.(475-477)taC>taA	p.Y159*	SULT2B1_uc002pjm.3_Nonsense_Mutation_p.Y144*	NM_177973	NP_814444	O00204	ST2B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 2B, member 1 (SULT2B1), transcript variant 2, mRNA.	159					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		TCTATCATTACTCCAAGATCG	0.607000														24			3		0.004672	0.00481985	0.004672	1	0
OR7G3	390883	broad.mit.edu	37	19	9237223	9237223	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:9237223A>T	uc010xkl.2	-	0	404	c.404T>A	c.(403-405)aTc>aAc	p.I135N		NM_001001958	NP_001001958	Q8NG95	OR7G3_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 3 (OR7G3), mRNA.	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						GGGGTTCATGATGACATTGTA	0.488000														79			18		0	0	0.004990	0	0
IFNA5	3442	broad.mit.edu	37	9	21304957	21304957	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr9:21304957C>A	uc011lnh.2	-	0	356	c.299G>T	c.(298-300)tGg>tTg	p.W100L		NM_002169	NP_002160	P01569	IFNA5_HUMAN	Homo sapiens interferon, alpha 5 (IFNA5), mRNA.	100					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				Lung(24;2.34e-24)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TGTCTCATCCCAAGTAGCAGA	0.483000														225			39		8.73648e-17	1.01718e-16	0.004289	1	0
CYTH3	9265	broad.mit.edu	37	7	6217518	6217518	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr7:6217518C>T	uc003spt.3	-	4	408	c.304G>A	c.(304-306)Gcc>Acc	p.A102T		NM_004227	NP_004218	O43739	CYH3_HUMAN	Homo sapiens cytohesin 3 (CYTH3), mRNA.	102	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						AGGAACTGGGCGACGTCTTCT	0.463000														74			16		0	0	0.004007	0	0
PDK3	5165	broad.mit.edu	37	X	24545692	24545692	+	Splice_Site	SNP	A	T	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:24545692A>T	uc004dbg.3	+	8	980	c.751_splice	c.e8-1	p.N251_splice	PDK3_uc004dbh.3_Splice_Site_p.N251_splice	NM_005391	NP_005382	Q15120	PDK3_HUMAN	Homo sapiens pyruvate dehydrogenase kinase, isozyme 3 (PDK3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	251	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TTATTTTAGAACTCAATGAGA	0.363000														19			4		0	0	0.009096	0	0
OR2AG2	338755	broad.mit.edu	37	11	6789861	6789861	+	Missense_Mutation	SNP	C	T	T	rs146279135	byFrequency	TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr11:6789861C>T	uc001meq.1	-	0	328	c.328G>A	c.(328-330)Gct>Act	p.A110T		NM_001004490	NP_001004490	A6NM03	O2AG2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AG, member 2 (OR2AG2), mRNA.	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S109S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGGTCCTCAGCGCTACCCATT	0.522000														27			16		0	0	0.003163	0	0
OC90	729330	broad.mit.edu	37	8	133044199	133044199	+	Silent	SNP	C	T	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr8:133044199C>T	uc003ytg.2	-	10	960	c.960G>A	c.(958-960)ccG>ccA	p.P320P	OC90_uc011lix.1_Silent_p.P320P	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	Homo sapiens otoconin 90 (OC90), mRNA.	336					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	p.C319F(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			CAAATTCCTCCGGGCACCGGG	0.547000														45			13		0	0	0.013537	0	0
GALNT1	2589	broad.mit.edu	37	18	33257583	33257583	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr18:33257583C>T	uc010dmu.3	+	3	396	c.343C>T	c.(343-345)Ctt>Ttt	p.L115F	GALNT1_uc002kyz.4_Missense_Mutation_p.L55F|GALNT1_uc002kzb.3_Missense_Mutation_p.L115F	NM_020474	NP_065207	Q10472	GALT1_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1) (GALNT1), mRNA.	115	Catalytic subdomain A.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|extracellular region|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						TCCAGATAATCTTCCTACAAC	0.388000														110			15		0	0	0.004007	0	0
KLRF1	51348	broad.mit.edu	37	12	9995006	9995006	+	Silent	SNP	G	A	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr12:9995006G>A	uc021qux.1	+	4	628	c.564G>A	c.(562-564)gtG>gtA	p.V188V	KLRF1_uc001qwm.3_Non-coding_Transcript|KLRF1_uc009zgy.3_Non-coding_Transcript|KLRF1_uc009zgz.3_Intron|KLRF1_uc009zha.3_Intron|KLRF1_uc009zgw.3_Silent_p.V138V|KLRF1_uc009zgx.3_Non-coding_Transcript	NM_016523	NP_057607	Q9NZS2	KLRF1_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily F, member 1 (KLRF1), mRNA.	188	C-type lectin.				cell surface receptor linked signaling pathway	integral to plasma membrane	MHC class I receptor activity|sugar binding			breast(1)|endometrium(2)|large_intestine(4)|lung(6)	13						GGACTTGGGTGGATGGTTCTC	0.358000														66			11		0	0	0.001855	0	0
SULT2B1	6820	broad.mit.edu	37	19	49094920	49094920	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:49094920T>A	uc002pjl.3	+	3	559	c.478T>A	c.(478-480)Tcc>Acc	p.S160T	SULT2B1_uc002pjm.3_Missense_Mutation_p.S145T	NM_177973	NP_814444	O00204	ST2B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 2B, member 1 (SULT2B1), transcript variant 2, mRNA.	160					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		CTATCATTACTCCAAGATCGC	0.612000														23			3		0	0	0.004672	0	0
SQSTM1	8878	broad.mit.edu	37	5	179247941	179247941	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr5:179247941C>T	uc003mkw.4	+	0	100	c.5C>T	c.(4-6)gCg>gTg	p.A2V	SQSTM1_uc011dgr.2_Intron|SQSTM1_uc011dgs.2_Intron|SQSTM1_uc003mkx.3_5'Flank	NM_003900	NP_003891	Q13501	SQSTM_HUMAN	Homo sapiens sequestosome 1 (SQSTM1), transcript variant 1, mRNA.	2	Interaction with LCK.				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	SH2 domain binding|protein kinase C binding|receptor tyrosine kinase binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCGCTATGGCGTCGCTCACC	0.716000														6			3		0	0	0.004672	0	0
TMPRSS2	7113	broad.mit.edu	37	21	42851169	42851169	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr21:42851169C>T	uc010gor.3	-	6	785	c.724G>A	c.(724-726)Gga>Aga	p.G242R	TMPRSS2_uc002yzj.3_Missense_Mutation_p.G205R|TMPRSS2_uc010gos.1_Missense_Mutation_p.G205R	NM_001135099	NP_005647	O15393	TMPS2_HUMAN	Homo sapiens transmembrane protease, serine 2 (TMPRSS2), transcript variant 1, mRNA.	205	SRCR.			I -> L (in Ref. 1; AAC51784).	proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				CTGGTGGATCCGCTGTCATCC	0.348000			T	"""ERG, ETV1, ETV4, ETV5"""	prostate									66			4		0	0	0.009096	0	0
OR6M1	390261	broad.mit.edu	37	11	123676272	123676272	+	Silent	SNP	G	A	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr11:123676272G>A	uc010rzz.2	-	0	786	c.786C>T	c.(784-786)aaC>aaT	p.N262N		NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily M, member 1 (OR6M1), mRNA.	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		CCAGTGAGGAGTTCTGATTGG	0.498000														34			11		0	0	0.008291	0	0
ZNF295	49854	broad.mit.edu	37	21	43411516	43411516	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr21:43411516G>A	uc021wjo.1	-	0	2689	c.2689C>T	c.(2689-2691)Ccc>Tcc	p.P897S	ZNF295_uc002yzz.4_Missense_Mutation_p.P696S|ZNF295_uc002zab.4_Missense_Mutation_p.P897S|ZNF295_uc002yzy.4_Missense_Mutation_p.P897S|ZNF295_uc002zaa.4_Missense_Mutation_p.P897S	NM_020727	NP_065778	Q9ULJ3	ZN295_HUMAN	Homo sapiens zinc finger protein 295 (ZNF295), transcript variant 2, mRNA.	897					negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methyl-CpG binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37						GCTTCTTTGGGGGCTGTGCTG	0.562000														68			5		0	0	0.000602	0	0
ARAP2	116984	broad.mit.edu	37	4	36126576	36126576	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr4:36126576G>T	uc003gsq.2	-	21	3992	c.3654C>A	c.(3652-3654)gaC>gaA	p.D1218E		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	1218	Rho-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTCTTTCCTTGTCATCTTGCG	0.368000														64			11		1.58986e-06	1.72765e-06	0.008291	1	0
CSH1	1442	broad.mit.edu	37	17	61972426	61972426	+	Missense_Mutation	SNP	G	A	A	rs139446025	byFrequency	TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr17:61972426G>A	uc002jcs.2	-	4	760	c.610C>T	c.(610-612)Cgc>Tgc	p.R204C		NM_001317	NP_001308	P01243	CSH_HUMAN	Homo sapiens chorionic somatomammotropin hormone 1 (placental lactogen) (CSH1), mRNA.	204					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			central_nervous_system(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						TGCACCATGCGCAGGAATGTC	0.582000									Russell-Silver syndrome					112			18		0	0	0.007413	0	0
MTMR7	9108	broad.mit.edu	37	8	17218649	17218649	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr8:17218649T>A	uc003wxm.3	-	3	684	c.445A>T	c.(445-447)Agc>Tgc	p.S149C		NM_004686	NP_004677	Q9Y216	MTMR7_HUMAN	Homo sapiens myotubularin related protein 7 (MTMR7), mRNA.	149	Myotubularin phosphatase.						protein tyrosine phosphatase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		TTCACATCGCTGAGCTGCCAG	0.473000														50			30		0	0	0.008361	0	0
NKX2-8	26257	broad.mit.edu	37	14	37051529	37051529	+	Silent	SNP	C	T	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr14:37051529C>T	uc001wtx.3	-	0	258	c.66G>A	c.(64-66)gcG>gcA	p.A22A		NM_014360	NP_055175	O15522	NKX28_HUMAN	Homo sapiens NK2 homeobox 8 (NKX2-8), mRNA.	22					liver development|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			upper_aerodigestive_tract(1)	1	Breast(36;0.143)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.0113)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0171)		GCAGGTGTTGCGCGTCCTGCT	0.701000														17			3		0	0	0.004672	0	0
LOC220729	220729	broad.mit.edu	37	3	197348739	197348739	+	Splice_Site	SNP	G	C	C			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr3:197348739G>C	uc011bug.2	-	4		c.352_splice	c.e4-1		LOC220729_uc003fxy.3_Splice_Site|LOC220729_uc010iao.2_Intron					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein (Fp) pseudogene (LOC220729), non-coding RNA.																		TAATTTTCTAGCTGTGAAAGA	0.398000														71			5		0	0	0.001168	0	0
DDX26B	203522	broad.mit.edu	37	X	134709030	134709030	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:134709030T>A	uc004eyw.4	+	12	2015	c.1652T>A	c.(1651-1653)gTt>gAt	p.V551D	DDX26B_uc004eyx.4_Missense_Mutation_p.V152D	NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B (DDX26B), mRNA.	551										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					AGTGTTCCAGTTGCACAAATG	0.413000														103			24		0	0	0.003954	0	0
HRH4	59340	broad.mit.edu	37	18	22056724	22056724	+	Missense_Mutation	SNP	C	G	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr18:22056724C>G	uc002kvi.3	+	2	471	c.371C>G	c.(370-372)aCt>aGt	p.T124S	HRH4_uc010xbd.2_3'UTR|HRH4_uc010dlx.3_Intron	NM_021624	NP_067637	Q9H3N8	HRH4_HUMAN	Homo sapiens histamine receptor H4 (HRH4), transcript variant 1, mRNA.	124						integral to membrane|plasma membrane	histamine receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Clozapine(DB00363)	TCTTATAGAACTCAACATACT	0.378000														95			12		0	0	0.010729	0	0
OR2M5	127059	broad.mit.edu	37	1	248309136	248309136	+	Silent	SNP	A	T	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:248309136A>T	uc010pze.2	+	0	687	c.687A>T	c.(685-687)ggA>ggT	p.G229G		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA.	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TTCACATGGGATCTGGAGAGG	0.443000														317			55		0	0	0.014410	0	0
ITPRIPL2	162073	broad.mit.edu	37	16	19126381	19126381	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr16:19126381G>T	uc002dfu.4	+	0	1128	c.598G>T	c.(598-600)Gcc>Tcc	p.A200S	ITPRIPL2_uc002dft.3_5'UTR	NM_001034841	NP_001030013	Q3MIP1	IPIL2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein-like 2 (ITPRIPL2), transcript variant 1, mRNA.	200						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GCCAGCGCTGGCCCCGGCCTT	0.706000											OREG0023657	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		28			11		7.03913e-09	7.80529e-09	0.013537	1	0
CCDC148	130940	broad.mit.edu	37	2	159201746	159201746	+	Missense_Mutation	SNP	G	C	C			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr2:159201746G>C	uc002tzq.3	-	2	546	c.232C>G	c.(232-234)Cag>Gag	p.Q78E	CCDC148_uc002tzr.3_Intron|CCDC148_uc010foh.3_Intron|CCDC148_uc010fok.2_Intron|CCDC148_uc010foi.2_Missense_Mutation_p.Q25E|CCDC148_uc010foj.2_Intron|CCDC148_uc002tzs.2_Missense_Mutation_p.Q78E	NM_138803	NP_620158	Q8NFR7	CC148_HUMAN	Homo sapiens coiled-coil domain containing 148 (CCDC148), transcript variant 1, mRNA.	78										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TTCAGCCTCTGGTATTCCTGC	0.383000														125			24		0	0	0.005443	0	0
TAF1L	138474	broad.mit.edu	37	9	32634394	32634394	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr9:32634394A>G	uc003zrg.1	-	0	1274	c.1184T>C	c.(1183-1185)gTg>gCg	p.V395A	AX747113_uc003zrh.1_Non-coding_Transcript	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	395					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AGATTTTATCACAGGTTCATG	0.458000														223			42		0	0	0.007835	0	0
APC	324	broad.mit.edu	37	5	112176714	112176714	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr5:112176714A>C	uc003kpz.4	+	16	5616	c.5423A>C	c.(5422-5424)aAc>aCc	p.N1808T	APC_uc011cvt.2_Missense_Mutation_p.N1790T|APC_uc003kpy.4_Missense_Mutation_p.N1808T|APC_uc010jbz.3_Missense_Mutation_p.N1525T|APC_uc010jca.3_Missense_Mutation_p.N1108T	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	1808	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TTCTCAGACAACAAAGATTCA	0.313000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)				36			7		0	0	0.003080	0	0
OR2T4	127074	broad.mit.edu	37	1	248525025	248525025	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:248525025G>T	uc001ieh.1	+	0	143	c.143G>T	c.(142-144)gGa>gTa	p.G48V		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA.	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATCCTGTTGGGACTCTTCAGA	0.458000														159			26		1.1804e-14	1.36457e-14	0.003954	1	0
FBN2	2201	broad.mit.edu	37	5	127730892	127730892	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr5:127730892T>G	uc003kuu.3	-	8	1593	c.1154A>C	c.(1153-1155)aAa>aCa	p.K385T	FBN2_uc003kuv.2_Missense_Mutation_p.K352T	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	385	TB 2.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GCACTGCATTTTCGTCATTCT	0.547000														24			5		0	0	0.001168	0	0
AKAP4	8852	broad.mit.edu	37	X	49958081	49958081	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:49958081T>C	uc004dow.1	-	4	1407	c.1283A>G	c.(1282-1284)aAg>aGg	p.K428R	AKAP4_uc004dou.1_Missense_Mutation_p.K419R|AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Missense_Mutation_p.K250R	NM_003886	NP_647450	Q5JQC9	AKAP4_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 4 (AKAP4), transcript variant 1, mRNA.	428				KR -> IL (in Ref. 2; AAC79433).	cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					GACCAAGCGCTTCAGCATGGC	0.478000														101			36		0	0	0.006230	0	0
GPAM	57678	broad.mit.edu	37	10	113919721	113919721	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr10:113919721C>T	uc009xxy.2	-	16	2060	c.1850G>A	c.(1849-1851)cGg>cAg	p.R617Q	GPAM_uc001kzp.3_Missense_Mutation_p.R617Q|GPAM_uc001kzq.1_Missense_Mutation_p.R617Q	NM_020918	NP_065969	Q9HCL2	GPAT1_HUMAN	Homo sapiens glycerol-3-phosphate acyltransferase, mitochondrial (GPAM), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	617					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		GGCCGCCTTCCGCACCAGCTG	0.547000														37			8		0	0	0.003080	0	0
ABCA7	10347	broad.mit.edu	37	19	1042063	1042063	+	Splice_Site	SNP	G	A	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:1042063G>A	uc002lqw.4	+	5	534	c.303_splice	c.e5-1	p.L101_splice	ABCA7_uc010dsb.1_5'Flank|ABCA7_uc010dsa.3_Splice_Site_p.L101_splice	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	101					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGTCCCCAGGGTCTCCCGGC	0.711000														11			3		0	0	0.009096	0	0
CDH24	64403	broad.mit.edu	37	14	23523984	23523984	+	Silent	SNP	C	T	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr14:23523984C>T	uc001wil.3	-	3	848	c.588G>A	c.(586-588)ctG>ctA	p.L196L	CDH24_uc010akf.3_Silent_p.L196L|CDH24_uc001win.3_Silent_p.L196L	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN	Homo sapiens cadherin 24, type 2 (CDH24), transcript variant 1, mRNA.	196	Cadherin 2.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		AGAAGAAAGGCAGTCCATCCA	0.597000											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		24			12		0	0	0.010729	0	0
GPR112	139378	broad.mit.edu	37	X	135430980	135430980	+	Missense_Mutation	SNP	G	C	C			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:135430980G>C	uc004ezu.1	+	5	5406	c.5115G>C	c.(5113-5115)caG>caC	p.Q1705H	GPR112_uc010nsb.1_Missense_Mutation_p.Q1500H|GPR112_uc010nsc.1_Missense_Mutation_p.Q1472H	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1705					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CAACTCAACAGTCATCACAAG	0.458000														164			26		0	0	0.003954	0	0
ACOT11	26027	broad.mit.edu	37	1	55072901	55072901	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:55072901G>A	uc001cxm.2	+	13	1641	c.1465G>A	c.(1465-1467)Gtg>Atg	p.V489M	ACOT11_uc001cxj.2_Missense_Mutation_p.V367M|ACOT11_uc001cxl.2_Missense_Mutation_p.V489M	NM_015547	NP_056362	Q8WXI4	ACO11_HUMAN	Homo sapiens acyl-CoA thioesterase 11 (ACOT11), transcript variant 1, mRNA.	489	START.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						CCAGGACTTCGTGATCCTGGC	0.627000														64			10		0	0	0.008291	0	0
CACNA1E	777	broad.mit.edu	37	1	181684510	181684510	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:181684510G>A	uc009wxt.3	+	8	1403	c.1208G>A	c.(1207-1209)gGa>gAa	p.G403E	CACNA1E_uc001gow.3_Missense_Mutation_p.G403E|CACNA1E_uc009wxs.3_Missense_Mutation_p.G403E	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	403					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AAAAATGCTGGAACATCCGCC	0.373000														12			4		0	0	0.000602	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12918902	12918902	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:12918902C>A	uc001aum.1	+	1	125	c.38C>A	c.(37-39)gCg>gAg	p.A13E		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	13										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGAGCTGGCGGGGCAGAGC	0.567000														160			27		1.75199e-13	1.98315e-13	0.007291	1	0
FAM208A	23272	broad.mit.edu	37	3	56667651	56667651	+	Silent	SNP	C	T	T	rs61758809	byFrequency	TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr3:56667651C>T	uc003did.4	-	16	3086	c.2985G>A	c.(2983-2985)gaG>gaA	p.E995E	FAM208A_uc003dib.4_Silent_p.E114E|FAM208A_uc003dic.4_Silent_p.E619E|FAM208A_uc003die.4_Silent_p.E1056E	NM_015224	NP_056039	Q9UK61	CC063_HUMAN	Homo sapiens family with sequence similarity 208, member A (FAM208A), transcript variant 2, mRNA.	1056										NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						GTTTCATCTTCTCTTGTGTTG	0.358000														67			5		0	0	0.000602	0	0
RIOK3	8780	broad.mit.edu	37	18	21047458	21047458	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr18:21047458G>T	uc002kui.4	+	6	1400	c.783G>T	c.(781-783)aaG>aaT	p.K261N	RIOK3_uc010dls.3_Missense_Mutation_p.K261N|RIOK3_uc010xas.2_Missense_Mutation_p.K245N|RIOK3_uc010xat.2_Missense_Mutation_p.R53M	NM_003831	NP_003822	O14730	RIOK3_HUMAN	Homo sapiens RIO kinase 3 (yeast) (RIOK3), mRNA.	261	Protein kinase.				chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GTACAGGAAAGGAGTCTGTTG	0.368000														77			9		4.68919e-08	5.12978e-08	0.008291	1	0
TTC26	79989	broad.mit.edu	37	7	138863316	138863316	+	Missense_Mutation	SNP	C	G	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr7:138863316C>G	uc003vus.2	+	13	1328	c.1214C>G	c.(1213-1215)gCa>gGa	p.A405G	TTC26_uc011kqn.1_Missense_Mutation_p.A405G|TTC26_uc011kqo.1_Missense_Mutation_p.A374G|TTC26_uc011kqp.1_Missense_Mutation_p.A300G|TTC26_uc003vut.2_Missense_Mutation_p.A265G|TTC26_uc011kqq.1_Missense_Mutation_p.A274G	NM_024926	NP_079202	A0AVF1	TTC26_HUMAN	Homo sapiens tetratricopeptide repeat domain 26 (TTC26), transcript variant 1, mRNA.	405							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						GCCAAAGCTGCAACAGGCAAT	0.368000														57			8		0	0	0.006214	0	0
SSPO	23145	broad.mit.edu	37	7	149474867	149474867	+	Silent	SNP	G	A	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr7:149474867G>A	uc010lpk.3	+	4	666	c.666G>A	c.(664-666)gcG>gcA	p.A222A	SSPO_uc010lpl.1_Intron	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	222	VWFD 1.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACCTGCTGGCGGGTGCTGCGG	0.682000														12			5		0	0	0.001168	0	0
CDH12	1010	broad.mit.edu	37	5	21817163	21817163	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr5:21817163A>C	uc010iuc.2	-	5	1351	c.893T>G	c.(892-894)tTt>tGt	p.F298C	CDH12_uc011cno.1_Missense_Mutation_p.F258C|CDH12_uc003jgk.2_Missense_Mutation_p.F298C	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	298	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						ATTTTGTCCAAAATCAGGATC	0.388000										HNSCC(59;0.17)				88			23		0	0	0.014323	0	0
EVPL	2125	broad.mit.edu	37	17	74003589	74003589	+	Silent	SNP	G	T	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr17:74003589G>T	uc010wss.1	-	21	5991	c.5763C>A	c.(5761-5763)gcC>gcA	p.A1921A	EVPL_uc002jqi.2_Silent_p.A1899A|EVPL_uc010wst.1_Silent_p.A1369A	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1899	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						AGGCCTTCTGGGCGTTAAGCA	0.652000														108			15		2.32078e-09	2.59101e-09	0.003163	1	0
CRLF2	64109	broad.mit.edu	37	X	1321390	1321390	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:1321390G>A	uc004cpk.2	-	3	367	c.365C>T	c.(364-366)cCg>cTg	p.P122L	CRLF2_uc022brt.1_Missense_Mutation_p.P122L|CRLF2_uc004cpl.2_Missense_Mutation_p.P10L|CRLF2_uc022brs.1_Missense_Mutation_p.P122L	NM_022148	NP_071431	Q9HC73	CRLF2_HUMAN	Homo sapiens cytokine receptor-like factor 2 (CRLF2), transcript variant 1, mRNA.	122	Fibronectin type-III.					extracellular region|integral to membrane|plasma membrane	receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CACGTGCTTCGGGGAACTGGG	0.542000			"""Mis, T"""	"""P2RY8, IGH@"""	"""B-ALL, Downs associated ALL"""									120			24		0	0	0.003954	0	0
CCT7	10574	broad.mit.edu	37	2	73466844	73466844	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr2:73466844G>A	uc002siz.3	+	1	223	c.80G>A	c.(79-81)aGt>aAt	p.S27N	CCT7_uc010yrf.2_5'UTR|CCT7_uc010yrh.2_5'UTR|CCT7_uc010yrg.2_5'UTR|CCT7_uc010yri.2_Intron|CCT7_uc002sja.3_Intron	NM_006429	NP_001159757	Q99832	TCPH_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 7 (eta) (CCT7), transcript variant 1, mRNA.	27					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						AGTAACATCAGTGCCTGCCAG	0.488000														23			7		0	0	0.001984	0	0
MPDZ	8777	broad.mit.edu	37	9	13138080	13138080	+	Missense_Mutation	SNP	C	G	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr9:13138080C>G	uc010mia.1	-	27	4133	c.4076G>C	c.(4075-4077)gGt>gCt	p.G1359A	MPDZ_uc003zky.4_5'Flank|MPDZ_uc010mib.3_Missense_Mutation_p.G64A|MPDZ_uc010mhx.3_Missense_Mutation_p.G181A|MPDZ_uc011lmm.2_Missense_Mutation_p.G218A|MPDZ_uc003zkz.4_Missense_Mutation_p.G52A|MPDZ_uc010mhz.3_Missense_Mutation_p.G1326A|MPDZ_uc011lmn.2_Missense_Mutation_p.G1326A|MPDZ_uc010mhy.3_Missense_Mutation_p.G1359A|MPDZ_uc003zlb.4_Missense_Mutation_p.G1359A	NM_003829	NP_003820	O75970	MPDZ_HUMAN	Homo sapiens multiple PDZ domain protein (MPDZ), mRNA.	1359	PDZ 8.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TAGGCCCAAACCACTATGACC	0.438000														68			9		0	0	0.004482	0	0
PPP2R2C	5522	broad.mit.edu	37	4	6325273	6325273	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr4:6325273C>T	uc003gja.3	-	8	1124	c.1100G>A	c.(1099-1101)cGg>cAg	p.R367Q	PPP2R2C_uc003gjb.3_Missense_Mutation_p.R350Q|PPP2R2C_uc003gjc.3_Missense_Mutation_p.R367Q|PPP2R2C_uc011bwd.2_Missense_Mutation_p.R360Q|PPP2R2C_uc011bwe.2_Missense_Mutation_p.R360Q	NM_181876	NP_870991	Q9Y2T4	2ABG_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, gamma (PPP2R2C), transcript variant 2, mRNA.	367					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						CTTGGTGTTCCGATCGAACAT	0.642000														42			6		0	0	0.001168	0	0
PLAU	5328	broad.mit.edu	37	10	75675025	75675025	+	Silent	SNP	G	A	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr10:75675025G>A	uc001jwa.3	+	9	1133	c.987G>A	c.(985-987)ccG>ccA	p.P329P	C10orf55_uc001jvz.2_Intron|PLAU_uc010qkw.2_Silent_p.P312P|PLAU_uc010qkx.2_Silent_p.P243P|PLAU_uc001jwb.3_Non-coding_Transcript|PLAU_uc001jwc.3_Silent_p.P329P|PLAU_uc009xrq.1_Silent_p.P293P	NM_002658	NP_002649	P00749	UROK_HUMAN	Homo sapiens plasminogen activator, urokinase (PLAU), transcript variant 1, mRNA.	329	Peptidase S1.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	ATCTCTATCCGGAGCAGCTGA	0.512000														87			21		0	0	0.002780	0	0
MAGEC2	51438	broad.mit.edu	37	X	141290652	141290652	+	Splice_Site	SNP	T	A	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:141290652T>A	uc022cfj.1	-	1	1122	c.1122_splice	c.e1+1	p.*374_splice	MAGEC2_uc004fbu.2_Nonstop_Mutation_p.*374C	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	0						cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					ATCCTAGACTTCACTCAGAAA	0.502000										HNSCC(46;0.14)				73			20		0	0	0.010504	0	0
BLZF1	8548	broad.mit.edu	37	1	169347582	169347582	+	Silent	SNP	A	G	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:169347582A>G	uc001gfx.2	+	3	920	c.483A>G	c.(481-483)ttA>ttG	p.L161L	BLZF1_uc001gfy.3_Silent_p.L161L|BLZF1_uc009wvp.1_Silent_p.L138L	NM_003666	NP_003657	Q9H2G9	GO45_HUMAN	Homo sapiens basic leucine zipper nuclear factor 1 (BLZF1), mRNA.	161					Golgi organization|Golgi to plasma membrane protein transport|cell proliferation|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					ATCGTGAGTTAAAAAAGTTAC	0.343000														119			59		0	0	0.014410	0	0
DMBT1	1755	broad.mit.edu	37	10	124357525	124357525	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr10:124357525G>A	uc001lgk.1	+	24	3059	c.2953G>A	c.(2953-2955)Gta>Ata	p.V985I	DMBT1_uc001lgl.1_Missense_Mutation_p.V975I|DMBT1_uc001lgm.1_Missense_Mutation_p.V486I|DMBT1_uc021qaf.1_Missense_Mutation_p.V985I|DMBT1_uc021qag.1_Missense_Mutation_p.V975I|DMBT1_uc021qah.1_Missense_Mutation_p.V486I|DMBT1_uc009xzz.1_Missense_Mutation_p.V985I|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_5'UTR	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	985					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGCATCGACAGTAGGTAAATA	0.463000														63			19		0	0	0.008871	0	0
GANAB	23193	broad.mit.edu	37	11	62400106	62400106	+	Silent	SNP	G	A	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr11:62400106G>A	uc001nua.3	-	9	1026	c.993C>T	c.(991-993)cgC>cgT	p.R331R	GANAB_uc001nub.3_Silent_p.R309R|GANAB_uc001nuc.3_Silent_p.R212R|GANAB_uc010rma.2_Silent_p.R217R|GANAB_uc010rmb.2_Silent_p.R195R	NM_198335	NP_938149	Q14697	GANAB_HUMAN	Homo sapiens glucosidase, alpha; neutral AB (GANAB), transcript variant 3, mRNA.	309					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	Golgi apparatus|endoplasmic reticulum lumen|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						TGCCCAAGTCGCGATGAGGGT	0.532000														132			47		0	0	0.014410	0	0
LPA	4018	broad.mit.edu	37	6	161027642	161027642	+	Silent	SNP	A	G	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr6:161027642A>G	uc003qtl.3	-	17	2772	c.2652T>C	c.(2650-2652)ccT>ccC	p.P884P		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3392	Kringle 8.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	p.P884A(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TATAACAATAAGGGGCTGCCA	0.522000														127			83		0	0	0.014410	0	0
NUP188	23511	broad.mit.edu	37	9	131745580	131745580	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr9:131745580C>T	uc004bws.1	+	17	1827	c.1805C>T	c.(1804-1806)aCa>aTa	p.T602I	NUP188_uc004bwu.3_5'Flank	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	Homo sapiens nucleoporin 188kDa (NUP188), mRNA.	602					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	p.T601T(1)		breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						AGGTTAACGACAGTGATCTCC	0.448000														136			19		0	0	0.007413	0	0
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr17:7578394T>C	uc002gim.2	-	4	730	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_uc002gig.1_Missense_Mutation_p.H179R|TP53_uc002gih.3_Missense_Mutation_p.H179R|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.H47R|TP53_uc010cnf.1_Missense_Mutation_p.H47R|TP53_uc002gii.1_Missense_Mutation_p.H47R|TP53_uc010cni.1_Missense_Mutation_p.H179R|TP53_uc010cnh.1_Missense_Mutation_p.H179R|TP53_uc002gij.2_Missense_Mutation_p.H179R|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.H86R|TP53_uc002gio.2_Missense_Mutation_p.H47R|TP53_uc010vug.2_Missense_Mutation_p.H140R	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H179R(214)|p.H179Y(90)|p.H179L(78)|p.H179Q(19)|p.P177_C182delPHHERC(16)|p.H178fs*69(15)|p.H179N(14)|p.H179D(11)|p.H178Y(8)|p.0?(8)|p.C176_R181delCPHHER(6)|p.H179P(6)|p.H178fs*3(6)|p.H178P(6)|p.R175_E180delRCPHHE(6)|p.H178Q(5)|p.H178D(5)|p.H178_S183delHHERCS(4)|p.H47L(4)|p.H86L(4)|p.H179fs*68(3)|p.R174fs*24(3)|p.H178N(3)|p.P177_H179delPHH(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.H179H(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.H86R(2)|p.H178fs*6(2)|p.P177_E180delPHHE(2)|p.H47R(2)|p.R174fs*1(2)|p.H178H(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.H179fs*?(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.H179del(1)|p.H178L(1)|p.R175_H178>X(1)|p.P177_C182del(1)|p.R81fs*24(1)|p.H178del(1)|p.H46_S51delHHERCS(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCAGCGCTCATGGTGGGGGCA	0.642000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				8			35		0	0	0.003755	0	0
OR4N3P	390539	broad.mit.edu	37	15	22414190	22414190	+	Silent	SNP	T	C	C	rs28695837	by1000genomes	TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr15:22414190T>C	uc001yuf.3	+	0	729	c.489T>C	c.(487-489)caT>caC	p.H163H	abParts_uc001yuj.2_Intron					Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA.																		GCACCACCCATATCATTGTTA	0.493000														115			7		0	0	0.001984	0	0
TBCK	93627	broad.mit.edu	37	4	106967769	106967769	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr4:106967769T>C	uc010ilv.2	-	25	3005	c.2640A>G	c.(2638-2640)atA>atG	p.I880M	TBCK_uc003hyb.2_Missense_Mutation_p.I623M|TBCK_uc003hye.2_Missense_Mutation_p.I841M|TBCK_uc003hyc.2_Missense_Mutation_p.I817M|TBCK_uc003hyd.2_Missense_Mutation_p.I708M|TBCK_uc003hyf.2_Missense_Mutation_p.I880M	NM_001163435	NP_001156908	Q8TEA7	TBCK_HUMAN	Homo sapiens TBC1 domain containing kinase (TBCK), transcript variant 1, mRNA.	880	Rhodanese.					intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						CTGTTGGCTTTATTTTATTAA	0.408000														23			12		0	0	0.013537	0	0
CUX2	23316	broad.mit.edu	37	12	111748299	111748299	+	Silent	SNP	C	A	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr12:111748299C>A	uc001tsa.2	+	14	1867	c.1713C>A	c.(1711-1713)atC>atA	p.I571I		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	571						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						AACACAACATCGGGCAGCGGG	0.677000														58			27		1.68575e-08	1.85661e-08	0.007291	1	0
KRTAP19-1	337882	broad.mit.edu	37	21	31852569	31852569	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr21:31852569T>C	uc011acx.2	-	0	68	c.68A>G	c.(67-69)tAt>tGt	p.Y23C		NM_181607	NP_853638	Q8IUB9	KR191_HUMAN	Homo sapiens keratin associated protein 19-1 (KRTAP19-1), mRNA.	23	26 X 2 AA repeats of G-[YCGS].					intermediate filament				cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						GCCATAGCCATAGCCCAGGCC	0.572000														140			7		0	0	0.001984	0	0
FAM47B	170062	broad.mit.edu	37	X	34961870	34961870	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:34961870C>T	uc004ddi.2	+	0	958	c.922C>T	c.(922-924)Cgc>Tgc	p.R308C		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	308	Pro-rich.									breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GTCCCATCTCCGCCCAGAGCC	0.632000														72			29		0	0	0.007291	0	0
RRN3P3	100131998	broad.mit.edu	37	16	22441236	22441236	+	RNA	SNP	G	A	A	rs114681793	by1000genomes	TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr16:22441236G>A	uc010vbu.1	-	4		c.1170C>T			RRN3P3_uc002dkp.2_Non-coding_Transcript					Homo sapiens RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 3 (RRN3P3), non-coding RNA.																		TGTTCCTCTCGATGATGGTGT	0.507000														53			11		0	0	0.008291	0	0
FLT4	2324	broad.mit.edu	37	5	180043382	180043382	+	Silent	SNP	G	A	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr5:180043382G>A	uc003mlz.4	-	22	3283	c.3204C>T	c.(3202-3204)taC>taT	p.Y1068Y	FLT4_uc003mma.4_Silent_p.Y1068Y	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	1068	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CCTTGCGGACGTAGTCGGGGT	0.597000														46			12		0	0	0.013537	0	0
SDR42E1	93517	broad.mit.edu	37	16	82034402	82034402	+	Missense_Mutation	SNP	C	G	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr16:82034402C>G	uc002fgu.3	-	1	190	c.62G>C	c.(61-63)gGt>gCt	p.G21A		NM_145168	NP_660151	Q8WUS8	D42E1_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 42E, member 1 (SDR42E1), mRNA.	21					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						TTACCGAAAACCAAAATAGCC	0.383000														56			13		0	0	0.002450	0	0
OPN1LW	5956	broad.mit.edu	37	X	153416330	153416330	+	Silent	SNP	C	T	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:153416330C>T	uc004fjz.4	+	1	348	c.315C>T	c.(313-315)atC>atT	p.I105I		NM_020061	NP_064445	P04000	OPSR_HUMAN	Homo sapiens opsin 1 (cone pigments), long-wave-sensitive (OPN1LW), mRNA.	105					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGACCGTCATCGCCAGCACTA	0.597000														98			25		0	0	0.003330	0	0
BCL2L13	23786	broad.mit.edu	37	22	18185020	18185020	+	Silent	SNP	T	G	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr22:18185020T>G	uc002zmw.3	+	5	686	c.468T>G	c.(466-468)ccT>ccG	p.P156P	BCL2L13_uc002zmu.3_Silent_p.P156P|BCL2L13_uc002zmx.3_5'UTR|BCL2L13_uc002zmy.3_Intron|BCL2L13_uc010gqy.3_5'UTR|BCL2L13_uc011agk.2_Silent_p.P32P|BCL2L13_uc010gqz.3_Intron|BCL2L13_uc002zmz.3_5'UTR	NM_015367	NP_056182	Q9BXK5	B2L13_HUMAN	Homo sapiens BCL2-like 13 (apoptosis facilitator) (BCL2L13), nuclear gene encoding mitochondrial protein, mRNA.	156					induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity			breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		TTTTGGTGCCTCTGGTTTTGC	0.363000														90			11		0	0	0.013537	0	0
KIAA1522	57648	broad.mit.edu	37	1	33236713	33236713	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:33236713C>T	uc001bvu.1	+	5	1977	c.1933C>T	c.(1933-1935)Cgc>Tgc	p.R645C	KIAA1522_uc010ohm.1_Missense_Mutation_p.R597C|KIAA1522_uc001bvv.2_Missense_Mutation_p.R586C|KIAA1522_uc010ohn.1_Intron	NM_020888	NP_065939	Q9P206	K1522_HUMAN	Homo sapiens KIAA1522 (KIAA1522), transcript variant 1, mRNA.	586	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCCCTCAGACCGCTCTGGGCC	0.617000														146			18		0	0	0.004990	0	0
C19orf48	84798	broad.mit.edu	37	19	51301602	51301602	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:51301602G>A	uc002ptf.3	-	4	1026	c.104C>T	c.(103-105)cCa>cTa	p.P35L	C19orf48_uc002pte.3_Non-coding_Transcript|C19orf48_uc002ptg.3_Missense_Mutation_p.P35L|C19orf48_uc021uyh.1_Missense_Mutation_p.P35L	NM_199249	NP_954858	Q6RUI8	CS048_HUMAN	Homo sapiens chromosome 19 open reading frame 48 (C19orf48), mRNA.	35										endometrium(1)|kidney(1)|lung(1)|ovary(1)	4		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00531)|GBM - Glioblastoma multiforme(134;0.0145)		GCACTGGGTTGGGTCCCAGCA	0.642000														134			25		0	0	0.003954	0	0
G6PD	2539	broad.mit.edu	37	X	153760890	153760890	+	Silent	SNP	G	A	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:153760890G>A	uc004fly.1	-	9	1292	c.1179C>T	c.(1177-1179)cgC>cgT	p.R393R	G6PD_uc004flx.1_Silent_p.R423R	NM_001042351	NP_001035810	P11413	G6PD_HUMAN	Homo sapiens glucose-6-phosphate dehydrogenase (G6PD), transcript variant 2, mRNA.	393			R -> H (in Nashville/Anaheim; class I).		cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	NADP binding|glucose binding|glucose-6-phosphate dehydrogenase activity|protein homodimerization activity	p.R393L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGGGCTGCACGCGGATCACCA	0.612000														66			24		0	0	0.014323	0	0
C19orf48	84798	broad.mit.edu	37	19	51301536	51301536	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:51301536G>A	uc002ptf.3	-	4	1092	c.170C>T	c.(169-171)cCa>cTa	p.P57L	C19orf48_uc002pte.3_Non-coding_Transcript|C19orf48_uc002ptg.3_Missense_Mutation_p.P57L|C19orf48_uc021uyh.1_Missense_Mutation_p.P57L	NM_199249	NP_954858	Q6RUI8	CS048_HUMAN	Homo sapiens chromosome 19 open reading frame 48 (C19orf48), mRNA.	57										endometrium(1)|kidney(1)|lung(1)|ovary(1)	4		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00531)|GBM - Glioblastoma multiforme(134;0.0145)		GGAAGCCCTTGGTAGCCCACT	0.647000														140			25		0	0	0.003954	0	0
MAPKAPK5	8550	broad.mit.edu	37	12	112321472	112321472	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr12:112321472A>G	uc001tta.3	+	8	1007	c.748A>G	c.(748-750)Atc>Gtc	p.I250V	MAPKAPK5_uc001tsz.3_Missense_Mutation_p.I250V	NM_139078	NP_620777	Q8IW41	MAPK5_HUMAN	Homo sapiens mitogen-activated protein kinase-activated protein kinase 5 (MAPKAPK5), transcript variant 2, mRNA.	250	Protein kinase.				signal transduction	cytoplasm|nucleus	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity			endometrium(1)|lung(11)|ovary(1)	13						CAGCCGGACTATCCCAAAGGA	0.468000														128			26		0	0	0.005443	0	0
MED12	9968	broad.mit.edu	37	X	70345937	70345937	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:70345937C>A	uc004dyy.3	+	17	2673	c.2474C>A	c.(2473-2475)aCt>aAt	p.T825N	MED12_uc011mpq.1_Missense_Mutation_p.T825N|MED12_uc004dyz.3_Missense_Mutation_p.T825N|MED12_uc004dza.3_Missense_Mutation_p.T672N	NM_005120	NP_005111	Q93074	MED12_HUMAN	Homo sapiens mediator complex subunit 12 (MED12), mRNA.	825					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GCCTTCCCCACTGCTGAAGAT	0.552000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome							94			19		9.7654e-05	0.000103361	0.007413	1	0
CLPTM1L	81037	broad.mit.edu	37	5	1330403	1330403	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr5:1330403C>T	uc003jch.3	-	8	1118	c.1072G>A	c.(1072-1074)Gcc>Acc	p.A358T	CLPTM1L_uc003jcg.3_Intron	NM_030782	NP_110409	Q96KA5	CLP1L_HUMAN	Homo sapiens CLPTM1-like (CLPTM1L), mRNA.	358					apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		ACCTCAATGGCGGCTCCAACA	0.622000														77			10		0	0	0.001855	0	0
PRPF31	26121	broad.mit.edu	37	19	54629912	54629912	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:54629912C>T	uc002qdh.2	+	8	1261	c.865C>T	c.(865-867)Cgg>Tgg	p.R289W	PRPF31_uc010yek.1_Missense_Mutation_p.R289W|PRPF31_uc021vbi.1_Missense_Mutation_p.R289W	NM_015629	NP_056444	Q8WWY3	PRP31_HUMAN	Homo sapiens PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae) (PRPF31), mRNA.	289	Nop.				assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP|nuclear speck	RNA binding|snRNP binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGATCTGCGGCGGAAAGCGGC	0.617000														20			5		0	0	0.001168	0	0
MPDZ	8777	broad.mit.edu	37	9	13138059	13138059	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr9:13138059C>T	uc010mia.1	-	27	4154	c.4097G>A	c.(4096-4098)gGg>gAg	p.G1366E	MPDZ_uc003zky.4_5'Flank|MPDZ_uc010mib.3_Missense_Mutation_p.G71E|MPDZ_uc010mhx.3_Missense_Mutation_p.G188E|MPDZ_uc011lmm.2_Missense_Mutation_p.G225E|MPDZ_uc003zkz.4_Missense_Mutation_p.G59E|MPDZ_uc010mhz.3_Missense_Mutation_p.G1333E|MPDZ_uc011lmn.2_Missense_Mutation_p.G1333E|MPDZ_uc010mhy.3_Missense_Mutation_p.G1366E|MPDZ_uc003zlb.4_Missense_Mutation_p.G1366E	NM_003829	NP_003820	O75970	MPDZ_HUMAN	Homo sapiens multiple PDZ domain protein (MPDZ), mRNA.	1366	PDZ 8.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GTCTTTGTTCCCAGCAAGACT	0.448000														65			12		0	0	0.013537	0	0
USP20	10868	broad.mit.edu	37	9	132631651	132631651	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr9:132631651G>T	uc004bys.2	+	12	1550	c.1339G>T	c.(1339-1341)Gac>Tac	p.D447Y	USP20_uc004byr.2_Missense_Mutation_p.D447Y|USP20_uc004byt.1_Missense_Mutation_p.D447Y	NM_001110303	NP_006667	Q9Y2K6	UBP20_HUMAN	Homo sapiens ubiquitin specific peptidase 20 (USP20), transcript variant 3, mRNA.	447					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	G-protein-coupled receptor binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				CGTCATCTCAGACATCTTTGA	0.652000														134			45		3.05275e-18	3.57984e-18	0.013114	1	0
TCHHL1	126637	broad.mit.edu	37	1	152060485	152060485	+	Frame_Shift_Del	DEL	A	-	-			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:152060485delA	uc001ezo.1	-	1	200	c.135delT	c.(133-135)tttfs	p.F45fs		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	45							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			AGCTCACCTGAAAAAAGTCCC	0.453													---	246	---	---	97	---					
ANKRD26	22852	broad.mit.edu	37	10	27322258	27322258	+	Frame_Shift_Del	DEL	G	-	-			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr10:27322258delG	uc009xku.1	-	24	3875	c.3703delC	c.(3703-3705)caafs	p.Q1235fs	ANKRD26_uc001itg.2_Frame_Shift_Del_p.Q921fs|ANKRD26_uc001ith.2_Frame_Shift_Del_p.Q1234fs	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	Homo sapiens ankyrin repeat domain 26 (ANKRD26), transcript variant 1, mRNA.	1234						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						GACATAGATTGTTTTTTTAGG	0.318													---	75	---	---	12	---					
CHD2	1106	broad.mit.edu	37	15	93545433	93545434	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr15:93545433_93545434insA	uc002bsp.3	+	32	4739_4740	c.4164_4165insA	c.(4162-4167)atgaaafs	p.M1388fs	CHD2_uc002bso.1_Frame_Shift_Ins_p.M1388fs	NM_001271	NP_001262	O14647	CHD2_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA.	1388					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AAAGTCCAATgaaaaaaaaaca	0.337													---	152	---	---	7	---					
UBN1	29855	broad.mit.edu	37	16	4910691	4910693	+	In_Frame_Del	DEL	AGA	-	-			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr16:4910691_4910693delAGA	uc002cyb.3	+	6	1037_1039	c.698_700delAGA	c.(697-702)gagaag>gag	p.K238del	UBN1_uc010uxw.2_In_Frame_Del_p.K238del|UBN1_uc002cyc.3_In_Frame_Del_p.K238del	NM_001079514	NP_058632	Q9NPG3	UBN1_HUMAN	Homo sapiens ubinuclein 1 (UBN1), transcript variant 2, mRNA.	238	Lys-rich.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	p.K234E(1)		NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GCCAGTAAGGAGAAGAAGAAGAA	0.453													---	314	---	---	7	---					
RBBP6	5930	broad.mit.edu	37	16	24581321	24581321	+	Frame_Shift_Del	DEL	C	-	-			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr16:24581321delC	uc002dmh.3	+	16	4350	c.3310delC	c.(3310-3312)ccafs	p.P1104fs	RBBP6_uc010vcb.1_Frame_Shift_Del_p.P971fs|RBBP6_uc002dmi.3_Frame_Shift_Del_p.P1070fs|RBBP6_uc010bxr.3_Intron|RBBP6_uc002dmk.3_Frame_Shift_Del_p.P937fs	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	1104	Interaction with RB1 (By similarity).				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		AGAAACAAAACCAGTCAAAGA	0.368													---	30	---	---	20	---					
KLF1	10661	broad.mit.edu	37	19	12996674	12996674	+	Frame_Shift_Del	DEL	C	-	-			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:12996674delC	uc002mvo.3	-	1	433	c.370delG	c.(370-372)gctfs	p.A124fs		NM_006563	NP_006554	Q13351	KLF1_HUMAN	Homo sapiens Kruppel-like factor 1 (erythroid) (KLF1), mRNA.	124	Pro-rich.				erythrocyte differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(3)|large_intestine(1)|skin(1)	5		Hepatocellular(1079;0.137)		GBM - Glioblastoma multiforme(1328;0.00016)|Lung(535;0.171)|STAD - Stomach adenocarcinoma(1328;0.18)		AAAAGCCCAGCCACCAGCCCC	0.746													---	4	---	---	2	---					
NKPD1	284353	broad.mit.edu	37	19	45655769	45655771	+	In_Frame_Del	DEL	CTG	-	-			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:45655769_45655771delCTG	uc010xxi.2	-	3	1924_1926	c.1924_1926delCAG	c.(1924-1926)cagdel	p.Q642del	NKPD1_uc021uvt.1_In_Frame_Del_p.Q420del	NM_198478	NP_940880			Homo sapiens NTPase, KAP family P-loop domain containing 1 (NKPD1), mRNA.											endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		CAAAGTCCCCCTGCTGCTGCTGC	0.704													---	329	---	---	7	---					
LONRF3	79836	broad.mit.edu	37	X	118148199	118148199	+	Frame_Shift_Del	DEL	G	-	-			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:118148199delG	uc004eqw.3	+	9	2035	c.2004delG	c.(2002-2004)atgfs	p.M668fs	LONRF3_uc004eqx.3_Frame_Shift_Del_p.M627fs|LONRF3_uc004eqy.3_Non-coding_Transcript|LONRF3_uc004eqz.3_Frame_Shift_Del_p.M412fs	NM_001031855	NP_001027026	Q496Y0	LONF3_HUMAN	Homo sapiens LON peptidase N-terminal domain and ring finger 3 (LONRF3), transcript variant 1, mRNA.	668	Lon.				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						CTGAGCTCATGGGATTACATA	0.438													---	245	---	---	59	---					
