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
SAMD14	201191	broad.mit.edu	37	17	48193445	48193445	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr17:48193445C>T	uc002iqf.3	-	4	808	c.509G>A	c.(508-510)cGt>cAt	p.R170H	SAMD14_uc002iqe.3_5'UTR|SAMD14_uc002iqg.3_Missense_Mutation_p.R170H	NM_174920	NP_777580	Q8IZD0	SAM14_HUMAN	Homo sapiens sterile alpha motif domain containing 14 (SAMD14), mRNA.	170										breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						ACTGGCGTCACGGCTGTCATC	0.602000														28			13		0	0	0.002450	0	0
POF1B	79983	broad.mit.edu	37	X	84600916	84600916	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chrX:84600916G>A	uc004eer.2	-	5	819	c.673C>T	c.(673-675)Cat>Tat	p.H225Y	POF1B_uc004ees.3_Missense_Mutation_p.H225Y	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	225							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						TTTCCAATATGTGTAGAAATT	0.418000														70			6		0	0	0.001984	0	0
MTRR	4552	broad.mit.edu	37	5	7875377	7875377	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr5:7875377G>A	uc003jed.3	+	3	401	c.371G>A	c.(370-372)gGt>gAt	p.G124D	MTRR_uc010itn.1_Non-coding_Transcript|MTRR_uc003jee.4_Missense_Mutation_p.G97D|MTRR_uc003jef.4_Non-coding_Transcript|MTRR_uc003jeg.4_Non-coding_Transcript|MTRR_uc010ito.3_Non-coding_Transcript	NM_024010	NP_076915	Q9UBK8	MTRR_HUMAN	Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR), transcript variant 2, mRNA.	124	Flavodoxin-like.				methionine biosynthetic process	cytosol	FMN binding|NADP binding|[methionine synthase] reductase activity|flavin adenine dinucleotide binding|iron ion binding			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	CTAGGTCTCGGTGATTCAGAA	0.348000														75			43		0	0	0.010771	0	0
HGD	3081	broad.mit.edu	37	3	120360508	120360508	+	Silent	SNP	G	A	A			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr3:120360508G>A	uc003edw.3	-	10	1267	c.807C>T	c.(805-807)caC>caT	p.H269H	HGD_uc003edv.3_Silent_p.H128H	NM_000187	NP_000178	Q93099	HGD_HUMAN	Homo sapiens homogentisate 1,2-dioxygenase (HGD), mRNA.	269					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		TATAATTCCCGTGCCAGGCCA	0.438000														60			19		0	0	0.010504	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73434466	73434466	+	Nonsense_Mutation	SNP	G	C	C			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr4:73434466G>C	uc003hgk.2	-	0	51	c.14C>G	c.(13-15)tCa>tGa	p.S5*		NM_014243	NP_055058	O15072	ATS3_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA.	5					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CAACCAAAGTGACAGGAGAAC	0.448000														22			14		0	0	0.006122	0	0
TRPA1	8989	broad.mit.edu	37	8	72987644	72987644	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr8:72987644T>C	uc003xza.3	-	0	176	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_007332	NP_015628	O75762	TRPA1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA.	1						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CTGCGCTTCATTGACCCCACC	0.667000														42			22		0	0	0.012319	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39262103	39262103	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr17:39262103A>T	uc010wfp.2	+	0	463	c.463A>T	c.(463-465)Agc>Tgc	p.S155C		NM_001146041	NP_001139513	Q9BYQ8	KRA49_HUMAN	Homo sapiens keratin associated protein 4-9 (KRTAP4-9), mRNA.	155	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].					keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						ccccagctgcagcatctccag	0.672000														7			3		0	0	0.001168	0	0
ZNF333	84449	broad.mit.edu	37	19	14828520	14828520	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr19:14828520A>C	uc002mzn.3	+	10	1009	c.875A>C	c.(874-876)gAg>gCg	p.E292A	ZNF333_uc002mzk.4_Missense_Mutation_p.E183A	NM_032433	NP_115809	Q96JL9	ZN333_HUMAN	Homo sapiens zinc finger protein 333 (ZNF333), mRNA.	292					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						ACTTTTACAGAGATCCTGTCC	0.418000														37			24		0	0	0.003954	0	0
EGFR	1956	broad.mit.edu	37	7	55221711	55221711	+	Missense_Mutation	SNP	G	C	C			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr7:55221711G>C	uc003tqk.3	+	6	1001	c.755G>C	c.(754-756)cGc>cCc	p.R252P	EGFR_uc003tqh.3_Missense_Mutation_p.R252P|EGFR_uc003tqi.3_Missense_Mutation_p.R252P|EGFR_uc003tqj.3_Missense_Mutation_p.R252P|EGFR_uc022adm.1_Missense_Mutation_p.R252P|EGFR_uc010kzg.2_Missense_Mutation_p.R207P|EGFR_uc022adn.1_Missense_Mutation_p.R207P|EGFR_uc011kco.2_Missense_Mutation_p.R199P|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	252					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)|p.R252C(1)|p.C251Y(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TAGGTCTGCCGCAAATTCCGA	0.587000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				183			705		0	0	0.014410	0	0
ASNS	440	broad.mit.edu	37	7	97498435	97498435	+	Missense_Mutation	SNP	C	G	G			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr7:97498435C>G	uc003uot.4	-	2	540	c.34G>C	c.(34-36)Gat>Cat	p.D12H	ASNS_uc011kin.2_Intron|ASNS_uc011kio.2_Intron|ASNS_uc003uou.4_Missense_Mutation_p.D12H|ASNS_uc003uov.4_Missense_Mutation_p.D12H|ASNS_uc003uox.4_Intron	NM_133436	NP_001171548	P08243	ASNS_HUMAN	Homo sapiens asparagine synthetase (glutamine-hydrolyzing) (ASNS), transcript variant 1, mRNA.	12	Glutamine amidotransferase type-2.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	ATP binding|asparagine synthase (glutamine-hydrolyzing) activity			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GAAAGGCAATCATCACTGCCA	0.418000														74			15		0	0	0.006122	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140202819	140202819	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr5:140202819G>A	uc003lhl.2	+	0	1459	c.1459G>A	c.(1459-1461)Gcc>Acc	p.A487T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Missense_Mutation_p.A487T|PCDHAC2_uc003lhj.1_Missense_Mutation_p.A487T	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	502	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGGAGAACGCCCTGGTGTC	0.662000														63			32		0	0	0.009718	0	0
TNNI1	7135	broad.mit.edu	37	1	201384346	201384346	+	Silent	SNP	G	A	A			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr1:201384346G>A	uc021phe.1	-	2	52	c.52C>T	c.(52-54)Ctg>Ttg	p.L18L	TNNI1_uc021phd.1_5'UTR|TNNI1_uc001gwo.1_Non-coding_Transcript|TNNI1_uc001gwp.3_5'UTR	NM_003281	NP_003272	P19237	TNNI1_HUMAN	Homo sapiens troponin I type 1 (skeletal, slow) (TNNI1), mRNA.	18	Involved in binding TNC.				muscle filament sliding|regulation of striated muscle contraction	cytosol|troponin complex	actin binding|tropomyosin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	8						CTCACCTTCAGCAAGAGTTTG	0.582000														23			7		0	0	0.003080	0	0
UPF3A	65110	broad.mit.edu	37	13	115047559	115047559	+	Silent	SNP	C	T	T			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr13:115047559C>T	uc001vup.3	+	1	327	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L	UPF3A_uc010tkn.2_Silent_p.L91L|UPF3A_uc001vuq.3_Silent_p.L91L|UPF3A_uc001vur.3_Non-coding_Transcript	NM_023011	NP_075387	Q9H1J1	REN3A_HUMAN	Homo sapiens UPF3 regulator of nonsense transcripts homolog A (yeast) (UPF3A), transcript variant 1, mRNA.	91	Required for interaction with UPF2.				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	RNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding	p.L91L(16)		autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GCTGCGCCCGCTGCCAGCACA	0.731000														4			3		0	0	0.004672	0	0
DCHS2	54798	broad.mit.edu	37	4	155287390	155287390	+	Silent	SNP	C	T	T	rs78251264	byFrequency	TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr4:155287390C>T	uc003inw.2	-	4	666	c.666G>A	c.(664-666)tcG>tcA	p.S222S	DCHS2_uc003inx.2_Silent_p.S816S	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	222	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TAAAAAGGGACGACACGTTTC	0.448000														46			6		0	0	0.001168	0	0
CRHR2	1395	broad.mit.edu	37	7	30695575	30695575	+	Silent	SNP	G	A	A			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr7:30695575G>A	uc003tbn.3	-	8	1130	c.885C>T	c.(883-885)cgC>cgT	p.R295R	CRHR2_uc010kvw.2_Silent_p.R295R|CRHR2_uc010kvx.2_Silent_p.R294R|CRHR2_uc022abg.1_Non-coding_Transcript|CRHR2_uc010kvy.2_Silent_p.R131R|CRHR2_uc003tbo.3_Silent_p.R281R|CRHR2_uc003tbp.3_Silent_p.R322R	NM_001883	NP_001874	Q13324	CRFR2_HUMAN	Homo sapiens corticotropin releasing hormone receptor 2 (CRHR2), transcript variant 1, mRNA.	295					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGGTGGACGCGCGTAACTTTG	0.552000														65			36		0	0	0.006999	0	0
MRVI1	10335	broad.mit.edu	37	11	10622600	10622600	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr11:10622600G>A	uc010rcc.1	-	14	2268	c.1882C>T	c.(1882-1884)Cgc>Tgc	p.R628C	MRVI1_uc010rcb.1_Missense_Mutation_p.R620C|MRVI1_uc001miw.2_Missense_Mutation_p.R619C|MRVI1_uc001mix.3_Missense_Mutation_p.R313C|MRVI1_uc001miz.2_Missense_Mutation_p.R537C|MRVI1_uc010rcd.1_Missense_Mutation_p.R422C|MRVI1_uc009ygd.1_Missense_Mutation_p.R313C|MRVI1_uc010rce.1_Non-coding_Transcript	NM_130385	NP_569056	Q9Y6F6	MRVI1_HUMAN	Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA.	601					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TTCGACATGCGCTTTTCCTGC	0.507000														133			67		0	0	0.014410	0	0
CLCN3	1182	broad.mit.edu	37	4	170601232	170601232	+	Silent	SNP	C	T	T			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr4:170601232C>T	uc003ish.3	+	2	751	c.192C>T	c.(190-192)agC>agT	p.S64S	CLCN3_uc003isi.3_Silent_p.S64S|CLCN3_uc011cka.2_Silent_p.S64S|CLCN3_uc011cjz.2_Silent_p.S47S|CLCN3_uc003isj.2_Silent_p.S37S	NM_173872	NP_776297	P51790	CLCN3_HUMAN	Homo sapiens chloride channel 3 (CLCN3), transcript variant e, mRNA.	64					endosomal lumen acidification	Golgi membrane|cell surface|early endosome membrane|integral to membrane|late endosome membrane|transport vesicle membrane	ATP binding|PDZ domain binding|antiporter activity|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		ATGGAGGCAGCATTAACAGTT	0.368000														39			17		0	0	0.007413	0	0
ARHGEF16	27237	broad.mit.edu	37	1	3394457	3394457	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr1:3394457G>A	uc001akg.4	+	10	1740	c.1492G>A	c.(1492-1494)Gcc>Acc	p.A498T	ARHGEF16_uc001aki.3_Missense_Mutation_p.A210T|ARHGEF16_uc001akj.3_Missense_Mutation_p.A210T|ARHGEF16_uc010nzh.2_Missense_Mutation_p.A202T	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 16 (ARHGEF16), mRNA.	498					activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		ACTGATCTCTGCCTCCCGGTG	0.622000														51			20		0	0	0.014323	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	T	T			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr1:16918653C>T	uc009vos.1	-	6	853	c.-35_splice	c.e6+1		NBPF1_uc010oce.1_Intron	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000														43			4		0	0	0.001168	0	0
ADAM28	10863	broad.mit.edu	37	8	24187575	24187575	+	Silent	SNP	C	T	T	rs151133749	byFrequency	TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr8:24187575C>T	uc003xdy.3	+	10	1133	c.1050C>T	c.(1048-1050)gaC>gaT	p.D350D	ADAM28_uc003xdx.3_Silent_p.D350D|ADAM28_uc011kzz.2_Silent_p.D117D|ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Silent_p.D37D	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	350	Peptidase M12B.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	p.H349Y(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TGTTTCATGACGACTATTCTT	0.453000														61			31		0	0	0.008361	0	0
JAM2	58494	broad.mit.edu	37	21	27062196	27062196	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr21:27062196A>G	uc002ylp.1	+	2	697	c.152A>G	c.(151-153)aAa>aGa	p.K51R	JAM2_uc011ace.1_Missense_Mutation_p.K51R|JAM2_uc002ylq.1_Non-coding_Transcript|JAM2_uc011acf.1_Intron	NM_021219	NP_067042	P57087	JAM2_HUMAN	Homo sapiens junctional adhesion molecule 2 (JAM2), mRNA.	51	Ig-like V-type.				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						TTAGCCTGCAAAACCCCAAAG	0.368000														67			42		0	0	0.011902	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	T	T			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr20:33345744C>T	uc002xav.3	-	7	3378	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_uc002xaw.3_Silent_p.Q269Q|NCOA6_uc021wcd.1_Silent_p.Q269Q|NCOA6_uc021wce.1_Silent_p.Q269Q|NCOA6_uc021wcf.1_Silent_p.Q269Q|NCOA6_uc010gew.1_Silent_p.Q226Q	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(29)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000														35			3		0	0	0.004672	0	0
CCDC64B	146439	broad.mit.edu	37	16	3085393	3085393	+	Silent	SNP	G	A	A			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr16:3085393G>A	uc002ctf.4	-	0	150	c.105C>T	c.(103-105)gaC>gaT	p.D35D	CCDC64B_uc002cte.4_5'Flank	NM_001103175	NP_001096645	A1A5D9	BICR2_HUMAN	Homo sapiens coiled-coil domain containing 64B (CCDC64B), mRNA.	35										breast(1)|endometrium(2)|large_intestine(1)	4						CCAGGAATGAGTCCCGCCGCT	0.692000														10			5		0	0	0.000602	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47423551	47423551	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr19:47423551G>A	uc010ekv.3	+	0	1619	c.1619G>A	c.(1618-1620)cGt>cAt	p.R540H		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	Homo sapiens Rho GTPase activating protein 35 (ARHGAP35), mRNA.	540					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										CAAGCAGAGCGTGATGCCCTT	0.483000														100			49		0	0	0.014410	0	0
ENAM	10117	broad.mit.edu	37	4	71509397	71509397	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr4:71509397G>T	uc011caw.1	+	8	2535	c.2254G>T	c.(2254-2256)Gct>Tct	p.A752S		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	752					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	p.A752T(1)		haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			TAATAATGCCGCTGGACCAGA	0.453000														64			33		3.67414e-24	4.02646e-24	0.012213	1	0
FRMPD4	9758	broad.mit.edu	37	X	12736404	12736404	+	Silent	SNP	C	T	T			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chrX:12736404C>T	uc004cuz.2	+	15	3965	c.3459C>T	c.(3457-3459)gaC>gaT	p.D1153D	FRMPD4_uc011mij.2_Silent_p.D1145D	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	1153					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TCTTAACTGACGTGACCTGTG	0.552000														32			84		0	0	0.014410	0	0
SLITRK6	84189	broad.mit.edu	37	13	86368978	86368978	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr13:86368978C>T	uc001vll.1	-	1	2125	c.1666G>A	c.(1666-1668)Gaa>Aaa	p.E556K	SLITRK6_uc021rla.1_Missense_Mutation_p.E556K	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	556	LRRCT 2.					integral to membrane		p.E556K(2)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		GCTTTCAATTCCTTTTTGTCG	0.453000														57			37		0	0	0.006999	0	0
TGM3	7053	broad.mit.edu	37	20	2321165	2321165	+	Missense_Mutation	SNP	G	A	A	rs140423684		TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr20:2321165G>A	uc002wfx.4	+	12	2117	c.2020G>A	c.(2020-2022)Gac>Aac	p.D674N		NM_003245	NP_003236	Q08188	TGM3_HUMAN	Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	674				D -> G (in Ref. 2; BAF84040).	cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|acyltransferase activity|calcium ion binding|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	ACTGCTCGCCGACTTCTCCTG	0.602000														64			29		0	0	0.006320	0	0
NUMA1	4926	broad.mit.edu	37	11	71725528	71725528	+	Silent	SNP	C	T	T			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr11:71725528C>T	uc001orl.1	-	14	3193	c.3021G>A	c.(3019-3021)gcG>gcA	p.A1007A	NUMA1_uc009ysw.1_Silent_p.A570A|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Silent_p.A1007A|NUMA1_uc001orn.2_Silent_p.A570A|NUMA1_uc009ysx.1_Silent_p.A1007A|NUMA1_uc001oro.1_Silent_p.A1007A	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA.	1007					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	p.V1006G(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GGGTCAGCCGCGCCACCTCCC	0.687000			T	RARA	APL									71			31		0	0	0.012213	0	0
ANXA1	301	broad.mit.edu	37	9	75773611	75773611	+	Splice_Site	SNP	C	T	T			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr9:75773611C>T	uc004ajf.1	+	3	141	c.67_splice	c.e3-1	p.Q23_splice	ANXA1_uc004ajg.1_Splice_Site_p.Q23_splice	NM_000700	NP_000691	P04083	ANXA1_HUMAN	Homo sapiens annexin A1 (ANXA1), mRNA.	23					alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion	basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620)	TCATTCTTAGCAAACTGTGAA	0.373000														29			8		0	0	0.003080	0	0
GCNT1	2650	broad.mit.edu	37	9	79117864	79117864	+	Silent	SNP	G	A	A			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr9:79117864G>A	uc022bif.1	+	0	567	c.567G>A	c.(565-567)tcG>tcA	p.S189S	GCNT1_uc010mpf.3_Silent_p.S189S|GCNT1_uc010mpg.3_Silent_p.S189S|GCNT1_uc010mph.3_Silent_p.S189S|GCNT1_uc004akf.4_Silent_p.S189S|GCNT1_uc010mpi.3_Silent_p.S189S|GCNT1_uc004akh.4_Silent_p.S189S	NM_001490	NP_001481	Q02742	GCNT1_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 1, core 2 (GCNT1), transcript variant 2, mRNA.	189	Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						TTTATGCATCGTGGAGCCGGG	0.458000														54			24		0	0	0.003330	0	0
OTOA	146183	broad.mit.edu	37	16	21702976	21702976	+	Missense_Mutation	SNP	C	G	G			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr16:21702976C>G	uc002djh.3	+	7	708	c.707C>G	c.(706-708)aCt>aGt	p.T236S	LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Missense_Mutation_p.T157S	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.	236					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		TCCTGGATGACTGGAATACTG	0.468000														30			14		0	0	0.004990	0	0
ADCY10	55811	broad.mit.edu	37	1	167791265	167791265	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr1:167791265A>T	uc001ger.3	-	29	4581	c.4283T>A	c.(4282-4284)aTc>aAc	p.I1428N	ADCY10_uc009wvj.3_Non-coding_Transcript|ADCY10_uc010plj.2_Missense_Mutation_p.I1275N|ADCY10_uc009wvk.3_Missense_Mutation_p.I1336N	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	1428					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TTGTTACCAGATAGCTACAGA	0.353000														34			14		0	0	0.004990	0	0
PIP4K2C	79837	broad.mit.edu	37	12	57989814	57989814	+	Splice_Site	SNP	G	A	A			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr12:57989814G>A	uc001sou.3	+	4	644	c.513_splice	c.e4+1	p.Q171_splice	PIP4K2C_uc001sot.3_Splice_Site_p.Q171_splice|PIP4K2C_uc010srs.2_Splice_Site_p.Q153_splice|PIP4K2C_uc010srt.2_Intron	NM_001146258	NP_079055	Q8TBX8	PI42C_HUMAN	Homo sapiens phosphatidylinositol-5-phosphate 4-kinase, type II, gamma (PIP4K2C), transcript variant 2, mRNA.	171	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					ACTATCACCAGGTCAGGCCTC	0.478000														59			37		0	0	0.007835	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57076923	57076923	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr11:57076923C>T	uc001njr.3	-	4	3574	c.3262G>A	c.(3262-3264)Ggt>Agt	p.G1088S	TNKS1BP1_uc001njs.3_Missense_Mutation_p.G1088S|TNKS1BP1_uc009ymd.1_Missense_Mutation_p.G539S	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.	1088	Acidic.|Gly-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTAAACTCACCGACCCAGCCT	0.642000														42			15		0	0	0.002450	0	0
TSKS	60385	broad.mit.edu	37	19	50249906	50249906	+	Silent	SNP	G	A	A			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr19:50249906G>A	uc002ppm.3	-	5	824	c.813C>T	c.(811-813)aaC>aaT	p.N271N		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	Homo sapiens testis-specific serine kinase substrate (TSKS), mRNA.	271							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GGCCCAGGCTGTTCCAGGAGA	0.731000														23			3		0	0	0.009096	0	0
FER1L6	654463	broad.mit.edu	37	8	125082819	125082819	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr8:125082819C>T	uc003yqw.3	+	29	4152	c.3946C>T	c.(3946-3948)Cga>Tga	p.R1316*	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1316						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TGATGGAGACCGAGTCATAGG	0.398000														86			49		0	0	0.014410	0	0
WASF3	10810	broad.mit.edu	37	13	27257045	27257045	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr13:27257045C>T	uc001uqv.3	+	8	1510	c.1285C>T	c.(1285-1287)Cgg>Tgg	p.R429W	WASF3_uc001uqw.3_Missense_Mutation_p.R426W	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN	Homo sapiens WAS protein family, member 3 (WASF3), mRNA.	429					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		TGAGGCGAAGCGGCAAGAGCC	0.647000														34			27		0	0	0.013726	0	0
SLC19A1	6573	broad.mit.edu	37	21	46951525	46951525	+	Silent	SNP	G	T	T			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr21:46951525G>T	uc002zhl.2	-	2	880	c.727C>A	c.(727-729)Cgg>Agg	p.R243R	SLC19A1_uc010gpy.1_Silent_p.R243R|SLC19A1_uc011aft.2_Silent_p.R203R|SLC19A1_uc002zhm.2_Silent_p.R243R|SLC19A1_uc010gpz.2_Silent_p.R122R	NM_194255	NP_919231	P41440	S19A1_HUMAN	Homo sapiens solute carrier family 19 (folate transporter), member 1 (SLC19A1), transcript variant 1, mRNA.	243					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		CAGGCCACCCGCAGGGCGTGT	0.706000														38			22		3.7963e-18	4.04939e-18	0.003330	1	0
EEF1A2	1917	broad.mit.edu	37	20	62127281	62127281	+	Missense_Mutation	SNP	C	G	G			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr20:62127281C>G	uc002yfe.1	-	2	418	c.252G>C	c.(250-252)aaG>aaC	p.K84N		NM_001958	NP_001949	Q05639	EF1A2_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 alpha 2 (EEF1A2), mRNA.	84						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			TGATGTAGTACTTGGTGGTCT	0.592000											OREG0026129	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		87			6		0	0	0.001168	0	0
CIB2	10518	broad.mit.edu	37	15	78398161	78398161	+	Silent	SNP	C	T	T	rs117153558	byFrequency	TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr15:78398161C>T	uc010ums.1	-	4	783	c.462G>A	c.(460-462)gaG>gaA	p.E154E	CIB2_uc002bdb.1_Silent_p.E154E|CIB2_uc002bdc.1_Silent_p.E111E	NM_006383	NP_006374	O75838	CIB2_HUMAN	Homo sapiens calcium and integrin binding family member 2 (CIB2), mRNA.	154	EF-hand 3.						calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						AGTCAGCCTCCTCAATGACCT	0.592000														59			3		0	0	0.009096	0	0
CCDC169-SOHLH2	100526761	broad.mit.edu	37	13	36764136	36764136	+	Silent	SNP	G	A	A	rs144665592	byFrequency	TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr13:36764136G>A	uc010tei.2	-	10	1134	c.819C>T	c.(817-819)ttC>ttT	p.F273F	CCDC169-SOHLH2_uc001uvj.3_Silent_p.F196F	NM_001198910	NP_001185839	B4DX90	B4DX90_HUMAN	Homo sapiens CCDC169-SOHLH2 readthrough (CCDC169-SOHLH2), mRNA.	273					regulation of transcription, DNA-dependent	nucleus		p.F196F(1)									TGTTTTTCTCGAACTCTGACA	0.333000														26			23		0	0	0.003954	0	0
MYH3	4621	broad.mit.edu	37	17	10554966	10554966	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr17:10554966C>T	uc002gmq.2	-	4	456	c.368G>A	c.(367-369)tGt>tAt	p.C123Y		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	123	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GACAGTGACACAGAAGAGGCC	0.498000														73			38		0	0	0.007835	0	0
PCNT	5116	broad.mit.edu	37	21	47845846	47845846	+	Silent	SNP	C	T	T	rs138588682		TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr21:47845846C>T	uc002zji.4	+	32	7388	c.7281C>T	c.(7279-7281)gaC>gaT	p.D2427D	PCNT_uc002zjj.3_Silent_p.D2309D	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	2427					G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GGAAGGAAGACGAGATACAGG	0.552000														63			21		0	0	0.002780	0	0
ARPP21	10777	broad.mit.edu	37	7	38282029	38282029	+	Splice_Site	SNP	C	A	A			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr7:38282029C>A	uc022aby.1	-	5	696	c.289_splice	c.e5+1	p.D97_splice	ARPP21_uc003tfu.3_Splice_Site_p.D81_splice|ARPP21_uc003tfv.3_Splice_Site_p.D81_splice	NM_001003806	NP_001003806	Q9UBL0	ARP21_HUMAN	Homo sapiens TCR gamma alternate reading frame protein (TARP), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	248						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AAAAGCTTACCATTTGCATCT	0.408000														103			44		6.68952e-21	7.23191e-21	0.013114	1	0
DSCAM	1826	broad.mit.edu	37	21	41711192	41711192	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr21:41711192C>T	uc002yyq.1	-	6	1813	c.1361G>A	c.(1360-1362)cGc>cAc	p.R454H	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	454	Ig-like C2-type 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTGGCTGATGCGGTGACTGCC	0.602000														42			3		0	0	0.004672	0	0
WIF1	11197	broad.mit.edu	37	12	65460502	65460502	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr12:65460502G>A	uc001ssk.3	-	5	1024	c.649C>T	c.(649-651)Cga>Tga	p.R217*		NM_007191	NP_009122	Q9Y5W5	WIF1_HUMAN	Homo sapiens WNT inhibitory factor 1 (WIF1), mRNA.	217	EGF-like 2.				Wnt receptor signaling pathway|multicellular organismal development	extracellular region	protein tyrosine kinase activity			cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		TTCATACATCGTGGGGTACAA	0.428000			T	HMGA2	pleomorphic salivary gland adenoma									28			6		0	0	0.001168	0	0
GRM4	2914	broad.mit.edu	37	6	33996019	33996019	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr6:33996019C>T	uc003oir.4	-	8	2930	c.2567G>A	c.(2566-2568)cGc>cAc	p.R856H	GRM4_uc011dsn.2_Missense_Mutation_p.R809H|GRM4_uc010jvh.3_Missense_Mutation_p.R856H|GRM4_uc010jvi.3_Missense_Mutation_p.R548H|GRM4_uc003oio.3_Missense_Mutation_p.R548H|GRM4_uc003oip.3_Non-coding_Transcript|GRM4_uc011dsl.2_Missense_Mutation_p.R716H|GRM4_uc003oiq.3_Missense_Mutation_p.R723H|GRM4_uc011dsm.2_Missense_Mutation_p.R687H	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	856					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	GCTGCGCTTGCGCTTGGGCAC	0.602000														48			18		0	0	0.007413	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503168	140503168	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr5:140503168G>A	uc003lip.1	+	0	1588	c.1588G>A	c.(1588-1590)Gtg>Atg	p.V530M		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	530	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGAGTTCCGCGTGGGCGCCTC	0.672000														73			32		0	0	0.013726	0	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	40673	40673	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chrGL000218.1:40673A>G	uc011mfn.2	-	2	346	c.257T>C	c.(256-258)gTg>gCg	p.V86A	LOC100233156_uc003jah.2_Missense_Mutation_p.V86A					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		CTTGTGCCGCACGTCCTCCAG	0.667000														11			4		0	0	0.003080	0	0
DDX4	54514	broad.mit.edu	37	5	55063741	55063741	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr5:55063741C>T	uc003jqg.4	+	6	466	c.367C>T	c.(367-369)Cgg>Tgg	p.R123W	DDX4_uc010ivz.3_Intron|DDX4_uc003jqh.4_Missense_Mutation_p.R123W|DDX4_uc003jqj.3_Missense_Mutation_p.R24W	NM_024415	NP_077726	Q9NQI0	DDX4_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 (DDX4), transcript variant 1, mRNA.	123	Gly-rich.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TAATCCAACACGGAACAGAGG	0.333000														38			17		0	0	0.014323	0	0
OR5T3	390154	broad.mit.edu	37	11	56020051	56020051	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr11:56020051G>A	uc010rjd.2	+	0	376	c.376G>A	c.(376-378)Gga>Aga	p.G126R		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 3 (OR5T3), mRNA.	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TTCATTTATCGGATGTGCAAC	0.363000														95			52		0	0	0.014410	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	Missense_Mutation	SNP	A	G	G	rs2257765		TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr10:38654432A>G	uc010qex.1	+	4	599	c.524A>G	c.(523-525)aAt>aGt	p.N175S	HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S					Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																		TCATCTCGCAATGCAAGGAAA	0.453000														91			5		0	0	0.000602	0	0
G6PC	2538	broad.mit.edu	37	17	41059630	41059630	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr17:41059630C>T	uc002icb.1	+	2	510	c.431C>T	c.(430-432)cCg>cTg	p.P144L	G6PC_uc010whf.1_Silent_p.A120A	NM_000151	NP_000142	P35575	G6PC_HUMAN	Homo sapiens glucose-6-phosphatase, catalytic subunit (G6PC), mRNA.	144					gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		AAGATAAAGCCGACCTACAGA	0.527000														19			12		0	0	0.002450	0	0
SEC24D	9871	broad.mit.edu	37	4	119736623	119736623	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr4:119736623C>A	uc003ici.4	-	4	928	c.656G>T	c.(655-657)gGa>gTa	p.G219V	SEC24D_uc003icj.4_Missense_Mutation_p.G219V|SEC24D_uc003icl.2_Non-coding_Transcript|SEC24D_uc010imz.1_Non-coding_Transcript|SEC24D_uc011cgg.1_Non-coding_Transcript	NM_014822	NP_055637	O94855	SC24D_HUMAN	Homo sapiens SEC24 family, member D (S. cerevisiae) (SEC24D), mRNA.	219	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	zinc ion binding	p.G219V(2)		breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						CGGAGGATATCCAGCACCCAA	0.557000														36			21		3.62473e-10	3.81551e-10	0.012319	1	0
FYB	2533	broad.mit.edu	37	5	39202453	39202453	+	Silent	SNP	G	A	A			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr5:39202453G>A	uc003jls.3	-	0	677	c.610C>T	c.(610-612)Cta>Tta	p.L204L	FYB_uc003jlt.3_Silent_p.L204L|FYB_uc003jlu.3_Silent_p.L204L|FYB_uc011cpl.2_Silent_p.L214L	NM_199335	NP_955367	O15117	FYB_HUMAN	Homo sapiens FYN binding protein (FYB), transcript variant 2, mRNA.	204					NLS-bearing substrate import into nucleus|T cell receptor signaling pathway|cell junction assembly|immune response|intracellular protein kinase cascade|protein phosphorylation	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TCGGTACTTAGGGGCGGCTTC	0.532000														37			33		0	0	0.003755	0	0
GPRC5C	55890	broad.mit.edu	37	17	72436710	72436710	+	Silent	SNP	C	T	T			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr17:72436710C>T	uc002jkp.3	+	1	1441	c.930C>T	c.(928-930)taC>taT	p.Y310Y	GPRC5C_uc002jkq.3_Intron|GPRC5C_uc002jkr.3_Silent_p.Y277Y|GPRC5C_uc002jkt.3_Silent_p.Y265Y|GPRC5C_uc002jku.3_5'Flank	NM_022036	NP_071319	Q9NQ84	GPC5C_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member C (GPRC5C), transcript variant 1, mRNA.	265						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						TGTATACTTACGGCAACAAGC	0.607000														42			11		0	0	0.001855	0	0
CXCL9	4283	broad.mit.edu	37	4	76927403	76927403	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr4:76927403C>T	uc003hjh.1	-	1	128	c.89G>A	c.(88-90)cGc>cAc	p.R30H		NM_002416	NP_002407	Q07325	CXCL9_HUMAN	Homo sapiens chemokine (C-X-C motif) ligand 9 (CXCL9), mRNA.	30					G-protein coupled receptor protein signaling pathway|cell-cell signaling|cellular defense response|chemotaxis|immune response|inflammatory response	extracellular space	chemokine activity			large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1)	11			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GCAGGAACAGCGACCCTTTCT	0.433000														94			39		0	0	0.004289	0	0
REN	5972	broad.mit.edu	37	1	204135375	204135377	+	In_Frame_Del	DEL	AGC	-	-	rs142739309		TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr1:204135375_204135377delAGC	uc001haq.2	-	0	89_91	c.45_47delGCT	c.(43-48)ctgctc>ctc	p.15_16LL>L		NM_000537	NP_000528	P00797	RENI_HUMAN	Homo sapiens renin (REN), mRNA.	15					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	GGAGCCCCAGAGCAGCAGCAGCA	0.581													---	1700	---	---	9	---					
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	G	G	rs2981599		TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr16:3119304_3119305insG	uc002ctq.3	+	5	748_749	c.653_654insG	c.(652-654)gacfs	p.D218fs	IL32_uc002ctn.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctk.3_Frame_Shift_Ins_p.D115fs|IL32_uc002cto.3_Frame_Shift_Ins_p.D218fs|IL32_uc010uwp.2_Frame_Shift_Ins_p.D152fs|IL32_uc010btb.3_Frame_Shift_Ins_p.D162fs|IL32_uc002ctl.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctm.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctp.3_Frame_Shift_Ins_p.D152fs|IL32_uc002ctr.3_Frame_Shift_Ins_p.D152fs|IL32_uc002ctt.3_Frame_Shift_Ins_p.D172fs|IL32_uc010uwr.2_Frame_Shift_Ins_p.D132fs|IL32_uc002ctu.3_Frame_Shift_Ins_p.D163fs|IL32_uc021tbc.1_Non-coding_Transcript	NM_004221	NP_004212	P24001	IL32_HUMAN	Homo sapiens interleukin 32 (IL32), transcript variant 2, mRNA.	218					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574													---	196	---	---	18	---					
WDR62	284403	broad.mit.edu	37	19	36590446	36590447	+	In_Frame_Ins	INS	-	GAAGCC	GAAGCC	rs139749569	byFrequency	TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr19:36590446_36590447insGAAGCC	uc002odd.2	+	21	2757_2758	c.2666_2667insGAAGCC	c.(2665-2667)atg>atGAAGCCg	p.891_892insKP	WDR62_uc002odc.2_In_Frame_Ins_p.891_892insKP	NM_001083961	NP_001077430	O43379	WDR62_HUMAN	Homo sapiens WD repeat domain 62 (WDR62), transcript variant 1, mRNA.	891					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TTTACCCCCATGAAGCCCGAGA	0.634													---	82	---	---	21	---					
NF2	4771	broad.mit.edu	37	22	30069292	30069292	+	Frame_Shift_Del	DEL	A	-	-			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr22:30069292delA	uc003age.4	+	11	1600	c.1157delA	c.(1156-1158)gaafs	p.E386fs	NF2_uc003afy.4_Frame_Shift_Del_p.E386fs|NF2_uc003afz.4_Frame_Shift_Del_p.E303fs|NF2_uc003agf.4_Frame_Shift_Del_p.E386fs|NF2_uc003agb.4_Frame_Shift_Del_p.E309fs|NF2_uc003agc.4_Frame_Shift_Del_p.E348fs|NF2_uc003agd.4_Intron|NF2_uc003agg.4_Frame_Shift_Del_p.E386fs|NF2_uc003aga.4_Frame_Shift_Del_p.E344fs|NF2_uc003agh.4_Frame_Shift_Del_p.E345fs|NF2_uc003agi.4_Frame_Shift_Del_p.E303fs|NF2_uc003agj.4_Intron|NF2_uc010gvp.3_Frame_Shift_Del_p.E50fs|NF2_uc011akq.2_Frame_Shift_Del_p.E12fs	NM_000268	NP_000259	P35240	MERL_HUMAN	Homo sapiens neurofibromin 2 (merlin) (NF2), transcript variant 1, mRNA.	386	Glu-rich.				Schwann cell proliferation|actin cytoskeleton organization|negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.?(3)|p.L383fs*12(1)|p.M375fs*20(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						CTGTTGGCTGAAAAGGCCCAG	0.587			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2				---	4	---	---	2	---					
