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
CUL1	8454	broad.mit.edu	37	7	148457565	148457566	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr7:148457565_148457566CC>AA	uc010lpg.3	+	6	1292_1293	c.766_767CC>AA	c.(766-768)cca>AAa	p.P256K	CUL1_uc003wey.3_Missense_Mutation_p.P256K|CUL1_uc003wez.3_Missense_Mutation_p.P146K	NM_003592	NP_003583	Q13616	CUL1_HUMAN	Homo sapiens cullin 1 (CUL1), mRNA.	256					G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination	SCF ubiquitin ligase complex|cytosol|nucleoplasm	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GCAGCAGAACCCAGTTACTGAA	0.332000														250			10		0	0	6.4e-05	0	0
ST18	9705	broad.mit.edu	37	8	53084780	53084780	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr8:53084780T>C	uc003xqz.2	-	4	797	c.641A>G	c.(640-642)aAa>aGa	p.K214R	ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.K179R|ST18_uc011lds.1_Missense_Mutation_p.K119R|ST18_uc003xra.2_Missense_Mutation_p.K214R|ST18_uc003xrb.2_Missense_Mutation_p.K214R	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	214						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TCTAGGTGGTTTGGTTTCTTC	0.408000														42			6		0	0	3.59834e-05	0	0
AQP12A	375318	broad.mit.edu	37	2	241631380	241631380	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr2:241631380T>A	uc002vzu.3	+	0	119	c.50T>A	c.(49-51)cTc>cAc	p.L17H	AQP12A_uc002vzv.3_Intron	NM_198998	NP_945349	Q8IXF9	AQ12A_HUMAN	Homo sapiens aquaporin 12A (AQP12A), mRNA.	17						integral to membrane	transporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		ACCTTCGCCCTCTGTGAGGCG	0.687000														33			6		0	0	8.12818e-05	0	0
FAT3	120114	broad.mit.edu	37	11	92532703	92532704	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr11:92532703_92532704CC>AA	uc001pdj.4	+	8	6541_6542	c.6524_6525CC>AA	c.(6523-6525)ccc>cAA	p.P2175Q		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	2175	Cadherin 19.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTGGAGCTTCCCATCACTATTG	0.431000										TCGA Ovarian(4;0.039)				460			10		0	0	6.4e-05	0	0
FAT3	120114	broad.mit.edu	37	11	92086445	92086446	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr11:92086445_92086446CC>AA	uc001pdj.4	+	0	1184_1185	c.1167_1168CC>AA	c.(1165-1170)tcccct>tcAAct	p.P390T		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	390	Cadherin 4.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTGAATTTTCCCCTCCTGGTGT	0.401000										TCGA Ovarian(4;0.039)				387			12		0	0	6.4e-05	0	0
NRCAM	4897	broad.mit.edu	37	7	107823349	107823349	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr7:107823349C>T	uc022aka.1	-	19	2426	c.2320G>A	c.(2320-2322)Gaa>Aaa	p.E774K	NRCAM_uc011kmk.2_Missense_Mutation_p.E774K|NRCAM_uc003vfd.3_Missense_Mutation_p.E755K|NRCAM_uc003vfe.3_Missense_Mutation_p.E755K|NRCAM_uc003vfc.3_Missense_Mutation_p.E758K	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	Homo sapiens neuronal cell adhesion molecule (NRCAM), transcript variant 1, mRNA.	774	Fibronectin type-III 2.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CCATTAGATTCGAAACCATTC	0.413000														47			6		0	0	8.12818e-05	0	0
STXBP4	252983	broad.mit.edu	37	17	53084896	53084897	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr17:53084896_53084897GG>TT	uc002iuf.1	+	7	811_812	c.604_605GG>TT	c.(604-606)ggg>TTg	p.G202L	STXBP4_uc010dcc.1_Missense_Mutation_p.G127L|STXBP4_uc010dcd.1_Missense_Mutation_p.G202L	NM_178509	NP_848604	Q6ZWJ1	STXB4_HUMAN	Homo sapiens syntaxin binding protein 4 (STXBP4), mRNA.	202						cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						TGAAAATTATGGGCTACAAGAA	0.356000														399			10		0	0	6.4e-05	0	0
TFR2	7036	broad.mit.edu	37	7	100226876	100226876	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr7:100226876C>T	uc003uvv.1	-	10	1459	c.1390_splice	c.e10+1	p.G464_splice	TFR2_uc010lhc.1_Splice_Site_p.G5_splice|TFR2_uc003uvu.1_Splice_Site_p.G293_splice	NM_003227	NP_003218	Q9UP52	TFR2_HUMAN	Homo sapiens transferrin receptor 2 (TFR2), transcript variant 1, mRNA.	464					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CTGACCTTACCGTTGCTCACC	0.657000														76			10		0	0	0.00010058	0	0
RGS7	6000	broad.mit.edu	37	1	241099908	241099908	+	Silent	SNP	G	T	T			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr1:241099908G>T	uc001hyv.2	-	4	655	c.325C>A	c.(325-327)Cgg>Agg	p.R109R	RGS7_uc010pyh.2_Silent_p.R83R|RGS7_uc010pyj.1_Silent_p.R25R|RGS7_uc001hyu.2_Silent_p.R109R|RGS7_uc009xgn.1_Intron|RGS7_uc001hyw.2_Silent_p.R109R	NM_002924	NP_002915	P49802	RGS7_HUMAN	Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA.	109	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	p.R109R(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			ACTTGAAACCGGTAAAAGGTG	0.398000														144			6		8.12818e-05	0.00723187	8.12818e-05	1	0
TUBA3D	113457	broad.mit.edu	37	2	132238267	132238267	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr2:132238267C>T	uc002tsu.4	+	3	1194	c.1001C>T	c.(1000-1002)aCc>aTc	p.T334I		NM_080386	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3d (TUBA3D), mRNA.	334					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		GCCATCGCCACCATCAAGACC	0.562000														38			10		0	0	3.86212e-05	0	0
TPK1	27010	broad.mit.edu	37	7	144320354	144320355	+	Splice_Site	DNP	CC	AA	AA			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr7:144320354_144320355CC>AA	uc003weq.3	-	6	362	c.259_splice	c.e6-1	p.G87_splice	TPK1_uc003weo.3_Splice_Site_p.G82_splice|TPK1_uc003wep.3_Splice_Site|TPK1_uc003wer.3_Splice_Site_p.G87_splice|TPK1_uc003wes.3_Splice_Site	NM_022445	NP_071890	Q9H3S4	TPK1_HUMAN	Homo sapiens thiamin pyrophosphokinase 1 (TPK1), transcript variant 1, mRNA.	87					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity	p.?(1)		large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	AGCTCACATCCCTATGTATTAA	0.312000														386			15		0	0	6.4e-05	0	0
CACNG2	10369	broad.mit.edu	37	22	36983595	36983596	+	Splice_Site	DNP	CC	AA	AA			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr22:36983595_36983596CC>AA	uc003aps.2	-	2	281	c.212_splice	c.e2-1	p.G71_splice		NM_006078	NP_006069	Q9Y698	CCG2_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 2 (CACNG2), mRNA.	71					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						TTTGAAATTCCCTGCAAAACAA	0.485000														151			8		0	0	6.4e-05	0	0
BTN3A2	11118	broad.mit.edu	37	6	26369000	26369000	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr6:26369000C>T	uc010jqh.2	+	3	552	c.293C>T	c.(292-294)tCg>tTg	p.S98L	BTN3A2_uc003nhp.3_Missense_Mutation_p.S98L|BTN3A2_uc011dkd.2_Missense_Mutation_p.S56L|BTN3A2_uc011dke.2_Missense_Mutation_p.S75L|BTN3A2_uc010jqi.2_Missense_Mutation_p.S98L	NM_001197247	NP_001184176	P78410	BT3A2_HUMAN	Homo sapiens butyrophilin, subfamily 3, member A2 (BTN3A2), transcript variant 3, mRNA.	98	Ig-like V-type.					integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						GGGAGAACTTCGATTCTGCGG	0.512000														32			7		0	0	0.00010058	0	0
TPTE	7179	broad.mit.edu	37	21	11012923	11012923	+	RNA	SNP	T	C	C			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr21:11012923T>C	uc002yis.1	-	8		c.1698A>G						P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA.						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTACCTAGCTTTTTTACTTTT	0.289000														46			31		0	0	2.25844e-05	0	0
SLC36A4	120103	broad.mit.edu	37	11	92895975	92895976	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr11:92895975_92895976CC>AA	uc001pdn.3	-	8	1030_1031	c.933_934GG>TT	c.(931-936)atgggg>atTTgg	p.311_312MG>IW	SLC36A4_uc001pdm.3_Missense_Mutation_p.176_177MG>IW	NM_152313	NP_689526	Q6YBV0	S36A4_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 4 (SLC36A4), mRNA.	311					L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GTAACAATCCCCATGCCAATAT	0.347000														459			12		0	0	6.4e-05	0	0
TAS2R46	259292	broad.mit.edu	37	12	11214123	11214123	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr12:11214123G>C	uc001qzp.1	-	0	771	c.771C>G	c.(769-771)aaC>aaG	p.N257K	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron	NM_176887	NP_795368	P59540	T2R46_HUMAN	Homo sapiens taste receptor, type 2, member 46 (TAS2R46), mRNA.	257					sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		AGACAGGTTTGTTTTCCAGAC	0.408000														183			33		0	0	8.91981e-05	0	0
HAVCR1	26762	broad.mit.edu	37	5	156469690	156469691	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr5:156469690_156469691CC>AA	uc010jij.1	-	5	969_970	c.784_785GG>TT	c.(784-786)ggg>TTg	p.G262L	HAVCR1_uc011ddl.1_Missense_Mutation_p.G93L|HAVCR1_uc003lwi.2_Missense_Mutation_p.G262L|HAVCR1_uc021ygj.1_Missense_Mutation_p.G262L|HAVCR1_uc021ygk.1_Missense_Mutation_p.G93L	NM_001099414	NP_036338	Q96D42	HAVR1_HUMAN	Homo sapiens hepatitis A virus cellular receptor 1 (HAVCR1), transcript variant 2, mRNA.	257					interspecies interaction between organisms	integral to membrane	receptor activity	p.G262V(2)		endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGTGTCATTCCCATCTACTCAA	0.347000														318			13		0	0	6.4e-05	0	0
IMPG2	50939	broad.mit.edu	37	3	100976421	100976422	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr3:100976421_100976422CC>AA	uc003duq.2	-	9	1307_1308	c.1104_1105GG>TT	c.(1102-1107)ctgggg>ctTTgg	p.G369W	IMPG2_uc011bhe.2_Missense_Mutation_p.G232W	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 2 (IMPG2), mRNA.	369					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	p.L368L(2)		NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GAAGAGTTCCCCAGCAAAAAAT	0.401000														79			7		0	0	6.4e-05	0	0
CKAP2L	150468	broad.mit.edu	37	2	113514717	113514717	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr2:113514717T>G	uc002tie.2	-	3	310	c.231A>C	c.(229-231)aaA>aaC	p.K77N	CKAP2L_uc002tif.2_5'UTR|CKAP2L_uc010yxp.1_5'UTR|CKAP2L_uc010yxq.1_5'UTR	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN	Homo sapiens cytoskeleton associated protein 2-like (CKAP2L), mRNA.	77						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TGGGCTGGAGTTTAATGCTGA	0.413000														99			27		0	0	0.000147802	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144917924	144917925	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr1:144917924_144917925CC>AA	uc021ouh.1	-	10	1663_1664	c.1361_1362GG>TT	c.(1360-1362)cgg>cTT	p.R454L	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.R454L|PDE4DIP_uc001elx.4_Missense_Mutation_p.R520L|PDE4DIP_uc001emd.2_Missense_Mutation_p.R454L|PDE4DIP_uc001emc.2_Missense_Mutation_p.R454L|PDE4DIP_uc001emb.1_Missense_Mutation_p.R617L|PDE4DIP_uc001eme.1_5'UTR	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	454					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding	p.R454L(6)|p.R617L(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GTAGGAGCTCCCGAAATTCCTG	0.337000			T	PDGFRB	MPD									301			9		0	0	6.4e-05	0	0
LAYN	143903	broad.mit.edu	37	11	111428347	111428348	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr11:111428347_111428348GG>TT	uc001plr.1	+	6	1100_1101	c.764_765GG>TT	c.(763-765)tgg>tTT	p.W255F	LAYN_uc001plp.1_Missense_Mutation_p.W247F|LAYN_uc010rwg.1_Missense_Mutation_p.W102F|LAYN_uc010rwh.2_Missense_Mutation_p.W103F	NM_178834	NP_849156	Q6UX15	LAYN_HUMAN	Homo sapiens layilin (LAYN), mRNA.	255						cell surface|integral to membrane|ruffle	hyaluronic acid binding|sugar binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1)	14		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)		GTTGTATGTTGGGTTTGGATCT	0.421000														410			10		0	0	6.4e-05	0	0
ARMCX5	64860	broad.mit.edu	37	X	101857274	101857274	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chrX:101857274G>A	uc022cbb.1	+	0	205	c.205G>A	c.(205-207)Gag>Aag	p.E69K	ARMCX5_uc004ejg.3_Missense_Mutation_p.E69K|ARMCX5_uc022caw.1_Missense_Mutation_p.E69K|ARMCX5_uc022cax.1_Missense_Mutation_p.E69K|ARMCX5-GPRASP2_uc022cay.1_Intron|ARMCX5_uc022caz.1_Missense_Mutation_p.E69K|ARMCX5_uc022cba.1_Missense_Mutation_p.E69K|ARMCX5_uc004ejh.3_Missense_Mutation_p.E69K	NM_022838	NP_073749	Q6P1M9	ARMX5_HUMAN	Homo sapiens armadillo repeat containing, X-linked 5 (ARMCX5), transcript variant 2, mRNA.	69							binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						GACCTACAGGGAGGCTATGGC	0.507000														47			13		0	0	0.000151284	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					11			74		0	0	0.000147903	0	0
TSGA13	114960	broad.mit.edu	37	7	130364052	130364053	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr7:130364052_130364053GG>TT	uc003vqi.3	-	4	784_785	c.327_328CC>AA	c.(325-330)acccag>acAAag	p.Q110K	TSGA13_uc003vqj.3_Missense_Mutation_p.Q110K	NM_052933	NP_443165	Q96PP4	TSG13_HUMAN	Homo sapiens testis specific, 13 (TSGA13), mRNA.	110										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					TTGTCTTGCTGGGTGATTGAGC	0.436000														646			12		0	0	6.4e-05	0	0
FOCAD	54914	broad.mit.edu	37	9	20820362	20820363	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr9:20820362_20820363GG>AA	uc003zog.1	+	14	1963_1964	c.1600_1601GG>AA	c.(1600-1602)gga>AAa	p.G534K	FOCAD_uc003zoh.1_5'UTR	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	Homo sapiens KIAA1797 (KIAA1797), mRNA.	534						integral to membrane	binding										ACAACTACTTGGAACCACACCA	0.376000														16			33		0	0	6.4e-05	0	0
CEP41	95681	broad.mit.edu	37	7	130040002	130040003	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr7:130040002_130040003CG>AT	uc003vpz.3	-	9	897_898	c.850_851CG>AT	c.(850-852)cgg>ATg	p.R284M	CEP41_uc003vpy.3_Missense_Mutation_p.R46M|CEP41_uc010lmf.3_Missense_Mutation_p.R81M|CEP41_uc003vqa.3_Intron|CEP41_uc011kpg.2_Intron	NM_018718	NP_061188	Q9BYV8	CEP41_HUMAN	Homo sapiens centrosomal protein 41kDa (CEP41), mRNA.	284					G2/M transition of mitotic cell cycle	centrosome|cytosol											GGATCGTTTCCGGGCAGACCCA	0.490000														468			13		0	0	6.4e-05	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19414170	19414170	+	RNA	SNP	T	C	C			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr13:19414170T>C	uc010tcj.1	-	0		c.31940A>G								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		GATTGAACAGTTGGTTCAAGT	0.269000														37			3		0	0	0.000151284	0	0
ARHGEF7	8874	broad.mit.edu	37	13	111862223	111862224	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr13:111862223_111862224CG>AT	uc001vrs.2	+	4	655_656	c.405_406CG>AT	c.(403-408)atcggg>atATgg	p.G136W	ARHGEF7_uc001vrr.2_Missense_Mutation_p.G115W|ARHGEF7_uc001vrt.2_Missense_Mutation_p.G86W|ARHGEF7_uc010tjn.1_Intron|ARHGEF7_uc001vrv.4_Intron|ARHGEF7_uc001vrw.4_5'UTR|ARHGEF7_uc001vrx.4_5'UTR|ARHGEF7_uc010tjo.2_Missense_Mutation_p.G33W	NM_001113511	NP_001106983	Q14155	ARHG7_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 7 (ARHGEF7), transcript variant 3, mRNA.	136					apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TTGCAGACATCGGGCTGGGGAG	0.525000														165			6		0	0	6.4e-05	0	0
P2RX4	5025	broad.mit.edu	37	12	121666527	121666528	+	Splice_Site	DNP	GG	TT	TT			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr12:121666527_121666528GG>TT	uc001tzr.3	+	7	910	c.606_splice	c.e7-1	p.K202_splice	P2RX4_uc010szr.1_Splice_Site|P2RX4_uc010szs.1_Splice_Site|P2RX4_uc009zxc.3_Splice_Site_p.K175_splice|P2RX4_uc010szt.2_Splice_Site_p.K101_splice|P2RX4_uc009zxb.3_Splice_Site	NM_002560	NP_002551	Q99571	P2RX4_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 4 (P2RX4), mRNA.	202					endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis	cell junction|perinuclear region of cytoplasm	cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding			breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTCGACTTTAGGAGGAATATCC	0.465000														208			9		0	0	6.4e-05	0	0
CACNA1S	779	broad.mit.edu	37	1	201042689	201042690	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr1:201042689_201042690GG>TT	uc001gvv.3	-	14	2371_2372	c.2144_2145CC>AA	c.(2143-2145)ccc>cAA	p.P715Q		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	715					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TGGCAGTGGTGGGGATGCCCTC	0.550000														239			9		0	0	6.4e-05	0	0
NAB2	4665	broad.mit.edu	37	12	57485446	57485446	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr12:57485446T>C	uc001smz.3	+	1	1000	c.622T>C	c.(622-624)Ttc>Ctc	p.F208L		NM_005967	NP_005958	Q15742	NAB2_HUMAN	Homo sapiens NGFI-A binding protein 2 (EGR1 binding protein 2) (NAB2), mRNA.	208					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	p.F208L(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CTCGCCCCCCTTCTCCCCCCC	0.716000														7			5		0	0	3.59834e-05	0	0
HMGXB4	10042	broad.mit.edu	37	22	35658400	35658401	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr22:35658400_35658401CC>AA	uc003anl.3	+	1	191_192	c.17_18CC>AA	c.(16-18)tcc>tAA	p.S6*	HMGXB4_uc011amh.1_Intron|HMGXB4_uc003ank.3_5'UTR	NM_001003681	NP_001003681	Q9UGU5	HMGX4_HUMAN	Homo sapiens HMG box domain containing 4 (HMGXB4), transcript variant 1, mRNA.	6					Wnt receptor signaling pathway|endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TATGATGACTCCGTGAAGAAAG	0.505000														147			7		0	0	6.4e-05	0	0
KCNC2	3747	broad.mit.edu	37	12	75444669	75444669	+	Silent	SNP	T	A	A			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr12:75444669T>A	uc001sxg.1	-	2	1660	c.1116A>T	c.(1114-1116)ggA>ggT	p.G372G	KCNC2_uc009zry.3_Silent_p.G372G|KCNC2_uc001sxe.3_Silent_p.G372G|KCNC2_uc001sxf.3_Silent_p.G372G|KCNC2_uc010stw.1_Silent_p.G372G	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 2, mRNA.	372					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.G372*(1)|p.L371L(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						GAAGAGTATGTCCAAGCACCC	0.443000														22			5		0	0	1.23904e-05	0	0
DISP1	84976	broad.mit.edu	37	1	223179274	223179275	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr1:223179274_223179275CG>AT	uc001hnu.2	+	9	4861_4862	c.4535_4536CG>AT	c.(4534-4536)tcg>tAT	p.S1512Y		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	1512					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TTAACACACTCGGAACTTTCTG	0.361000														455			9		0	0	6.4e-05	0	0
NBEAL1	65065	broad.mit.edu	37	2	203977932	203977933	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr2:203977932_203977933CC>AA	uc002uzt.3	+	15	2643_2644	c.2310_2311CC>AA	c.(2308-2313)acccaa>acAAaa	p.Q771K		NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	771							binding	p.L771I(1)		NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CAGCTGGAACCCAAGACAGTGA	0.446000														247			8		0	0	6.4e-05	0	0
HMGCR	3156	broad.mit.edu	37	5	74645947	74645948	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr5:74645947_74645948CC>AA	uc011cst.2	+	6	949_950	c.697_698CC>AA	c.(697-699)cca>AAa	p.P233K	HMGCR_uc003kdp.3_Missense_Mutation_p.P213K|HMGCR_uc003kdq.3_Missense_Mutation_p.P213K|HMGCR_uc010izn.1_Missense_Mutation_p.P53K	NM_000859	NP_000850	P04035	HMDH_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA reductase (HMGCR), transcript variant 1, mRNA.	213					cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	NADP binding|hydroxymethylglutaryl-CoA reductase (NADPH) activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	GACTTTCTTCCCAGCTTGTGTG	0.396000														361			15		0	0	6.4e-05	0	0
C8orf37	157657	broad.mit.edu	37	8	96272124	96272125	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr8:96272124_96272125CG>AT	uc003yho.2	-	3	362_363	c.317_318CG>AT	c.(316-318)ccg>cAT	p.P106H		NM_177965	NP_808880	Q96NL8	CH037_HUMAN	Homo sapiens chromosome 8 open reading frame 37 (C8orf37), mRNA.	106										kidney(1)|large_intestine(1)|lung(5)	7	Breast(36;3.41e-05)					CAAGGTACACCGGACTGCAACT	0.327000														337			7		0	0	6.4e-05	0	0
RSRC2	65117	broad.mit.edu	37	12	122990136	122990137	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr12:122990136_122990137GG>TT	uc001ucr.3	-	9	1402_1403	c.1242_1243CC>AA	c.(1240-1245)acccac>acAAac	p.H415N	RSRC2_uc001uco.3_Missense_Mutation_p.H184N|RSRC2_uc001ucp.3_Missense_Mutation_p.H356N|RSRC2_uc001ucs.3_Missense_Mutation_p.H184N|RSRC2_uc001uct.3_Missense_Mutation_p.H367N	NM_023012	NP_075388	Q7L4I2	RSRC2_HUMAN	Homo sapiens arginine/serine-rich coiled-coil 2 (RSRC2), transcript variant 1, mRNA.	415										breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		CTTTGTGTGTGGGTTTGTGATC	0.391000														87			6		0	0	6.4e-05	0	0
LEMD3	23592	broad.mit.edu	37	12	65564456	65564456	+	Silent	SNP	C	T	T			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr12:65564456C>T	uc001ssl.2	+	0	1106	c.1080C>T	c.(1078-1080)aaC>aaT	p.N360N	LEMD3_uc009zqo.2_Silent_p.N360N	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	Homo sapiens LEM domain containing 3 (LEMD3), transcript variant 1, mRNA.	360					negative regulation of BMP signaling pathway|negative regulation of activin receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		ACCGTGTTAACGCTAAGAAAC	0.552000														31			7		0	0	5.18039e-06	0	0
SLC23A2	9962	broad.mit.edu	37	20	4865410	4865411	+	Silent	DNP	GG	TT	TT			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr20:4865410_4865411GG>TT	uc002wlg.1	-	7	1005_1006	c.630_631CC>AA	c.(628-633)ccccgg>ccAAgg	p.210_211PR>PR	SLC23A2_uc010zqr.1_Intron|SLC23A2_uc002wlh.1_Silent_p.210_211PR>PR|SLC23A2_uc002wli.3_Silent_p.209_210PR>PR	NM_005116	NP_976072	Q9UGH3	S23A2_HUMAN	Homo sapiens solute carrier family 23 (nucleobase transporters), member 2 (SLC23A2), transcript variant 1, mRNA.	210					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity	p.R211R(2)		endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TCTCGGATCCGGGGATACCAGA	0.416000														147			6		0	0	6.4e-05	0	0
FRG1B	284802	broad.mit.edu	37	20	29628251	29628251	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr20:29628251A>G	uc010ztl.1	+	2	195	c.163A>G	c.(163-165)Aat>Gat	p.N55D	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.N7D					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.N85D(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTTGGCCTCAAATAGCTGCTT	0.358000														86			6		0	0	1.12685e-05	0	0
DYNC2LI1	51626	broad.mit.edu	37	2	44021765	44021765	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr2:44021765A>G	uc002rtl.3	+	5	590	c.490A>G	c.(490-492)Atg>Gtg	p.M164V	DYNC2LI1_uc002rth.3_Missense_Mutation_p.M164V|DYNC2LI1_uc002rti.3_3'UTR|DYNC2LI1_uc002rtk.3_Missense_Mutation_p.M164V|DYNC2LI1_uc010ynz.2_Missense_Mutation_p.M38V|DYNC2LI1_uc021vgq.1_Missense_Mutation_p.M38V	NM_001193464	NP_001180393	Q8TCX1	DC2L1_HUMAN	Homo sapiens dynein, cytoplasmic 2, light intermediate chain 1 (DYNC2LI1), transcript variant 4, mRNA.	164						apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CTGGAATAATATGCCGAAGGA	0.363000														302			106		0	0	0.000147903	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37442540	37442541	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr10:37442540_37442541CC>AA	uc021ppc.1	+	12	1679_1680	c.1580_1581CC>AA	c.(1579-1581)ccc>cAA	p.P527Q	ANKRD30A_uc001iza.1_Missense_Mutation_p.P527Q	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	583						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GTGTGTTTACCCAAGGCTACAC	0.297000														274			9		0	0	6.4e-05	0	0
ROR2	4920	broad.mit.edu	37	9	94486904	94486904	+	Silent	SNP	G	A	A			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr9:94486904G>A	uc004arj.2	-	8	2071	c.1872C>T	c.(1870-1872)taC>taT	p.Y624Y	ROR2_uc004ari.1_Silent_p.Y484Y	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	624	Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TCAGCTTGTCGTACACTAGCA	0.577000														59			13		0	0	0.000151284	0	0
PNPLA8	50640	broad.mit.edu	37	7	108154703	108154704	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr7:108154703_108154704CG>AT	uc003vff.1	-	4	1497_1498	c.1090_1091CG>AT	c.(1090-1092)cgg>ATg	p.R364M	PNPLA8_uc003vfi.1_Missense_Mutation_p.R264M|PNPLA8_uc003vfh.1_Missense_Mutation_p.R364M|PNPLA8_uc003vfj.1_Missense_Mutation_p.R364M|PNPLA8_uc003vfk.1_Missense_Mutation_p.R264M	NM_015723	NP_056538	Q9NP80	PLPL8_HUMAN	Homo sapiens patatin-like phospholipase domain containing 8 (PNPLA8), transcript variant 1, mRNA.	364					fatty acid metabolic process|lipid catabolic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						AACTAATGCCCGGGTCCTGTTA	0.356000														345			9		0	0	6.4e-05	0	0
NEUROD1	4760	broad.mit.edu	37	2	182543262	182543263	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr2:182543262_182543263CG>AT	uc021vto.1	-	0	325_326	c.325_326CG>AT	c.(325-327)cgg>ATg	p.R109M	CERKL_uc021vtm.1_Intron|CERKL_uc002uod.2_Intron|NEUROD1_uc002uof.3_Missense_Mutation_p.R109M|NEUROD1_uc021vtn.1_Missense_Mutation_p.R109M	NM_002500	NP_002491	Q13562	NDF1_HUMAN	Homo sapiens neurogenic differentiation 1 (NEUROD1), mRNA.	109					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	E-box binding|chromatin binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	p.R109L(2)		endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GTTCCGCTCCCGGGCGTTAGCC	0.545000														231			7		0	0	6.4e-05	0	0
CXorf23	256643	broad.mit.edu	37	X	19953962	19953963	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chrX:19953962_19953963CC>AA	uc004czp.3	-	8	1827_1828	c.1827_1828GG>TT	c.(1825-1830)gaggga>gaTTga	p.609_610EG>D*	CXorf23_uc011mjg.2_Intron|CXorf23_uc004czo.3_Nonsense_Mutation_p.588_589EG>D*	NM_198279	NP_938020	A2AJT9	CX023_HUMAN	Homo sapiens chromosome X open reading frame 23 (CXorf23), mRNA.	638						mitochondrion				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						CGGTGGTTTCCCTCAACCTCAA	0.347000														297			10		0	0	6.4e-05	0	0
FAT3	120114	broad.mit.edu	37	11	92086896	92086897	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr11:92086896_92086897CC>AA	uc001pdj.4	+	0	1635_1636	c.1618_1619CC>AA	c.(1618-1620)cca>AAa	p.P540K		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	540	Cadherin 5.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGAATCCTCCCCAGAAATTTAC	0.401000										TCGA Ovarian(4;0.039)				347			10		0	0	6.4e-05	0	0
DTX1	1840	broad.mit.edu	37	12	113515257	113515257	+	Silent	SNP	C	T	T			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr12:113515257C>T	uc001tuk.1	+	1	624	c.288C>T	c.(286-288)ttC>ttT	p.F96F		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	Homo sapiens deltex homolog 1 (Drosophila) (DTX1), mRNA.	96	WWE 2.				Notch signaling pathway|negative regulation of neuron differentiation|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GGCGCAACTTCTACGACCCGT	0.672000														23			6		0	0	3.59834e-05	0	0
CCNE2	9134	broad.mit.edu	37	8	95897418	95897419	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr8:95897418_95897419CC>AA	uc003yhc.3	-	8	811_812	c.707_708GG>TT	c.(706-708)tgg>tTT	p.W236F	CCNE2_uc003yhd.2_Missense_Mutation_p.W236F	NM_057749	NP_477097	O96020	CCNE2_HUMAN	Homo sapiens cyclin E2 (CCNE2), mRNA.	236					G1/S transition of mitotic cell cycle|cell cycle checkpoint|cell division|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					GACAAAGTTCCCATTTTAAAGC	0.366000														322			11		0	0	6.4e-05	0	0
RRP15	51018	broad.mit.edu	37	1	218458675	218458675	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr1:218458675C>G	uc001hlj.3	+	0	47	c.17C>G	c.(16-18)cCg>cGg	p.P6R		NM_016052	NP_057136	Q9Y3B9	RRP15_HUMAN	Homo sapiens ribosomal RNA processing 15 homolog (S. cerevisiae) (RRP15), mRNA.	6						mitochondrion|nucleolus	protein binding	p.A5S(1)	ACBD6/RRP15(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14				all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248)		GCCGCCGCTCCGGACTCACGT	0.547000														19			21		0	0	3.10358e-05	0	0
FAT3	120114	broad.mit.edu	37	11	92570935	92570936	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr11:92570935_92570936CG>AT	uc001pdj.4	+	15	10348_10349	c.10331_10332CG>AT	c.(10330-10332)ccg>cAT	p.P3444H	FAT3_uc001pdi.4_5'Flank	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3444	Cadherin 31.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GACAACAGCCCGGTGTTTACAC	0.470000										TCGA Ovarian(4;0.039)				316			8		0	0	6.4e-05	0	0
DOCK7	85440	broad.mit.edu	37	1	63048872	63048872	+	Silent	SNP	G	C	C			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr1:63048872G>C	uc001daq.3	-	15	1888	c.1854C>G	c.(1852-1854)gcC>gcG	p.A618A	DOCK7_uc001dan.3_Silent_p.A510A|DOCK7_uc001dao.3_Silent_p.A510A|DOCK7_uc001dap.3_Silent_p.A618A	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA.	618	DHR-1.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|Rac GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GATATACTACGGCTGTATAGG	0.348000														143			5		0	0	8.12818e-05	0	0
PTBP2	58155	broad.mit.edu	37	1	97278427	97278427	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr1:97278427C>T	uc001drq.3	+	11	1577	c.1331C>T	c.(1330-1332)tCc>tTc	p.S444F	PTBP2_uc001drn.2_Missense_Mutation_p.S449F|PTBP2_uc001dro.2_Missense_Mutation_p.S444F|PTBP2_uc010otz.1_Missense_Mutation_p.S460F|PTBP2_uc001drp.2_Non-coding_Transcript|PTBP2_uc009wdw.2_Missense_Mutation_p.S392F|PTBP2_uc001drr.3_Missense_Mutation_p.S449F|PTBP2_uc001dru.3_Non-coding_Transcript|PTBP2_uc001drs.1_Missense_Mutation_p.S63F|PTBP2_uc001drt.3_Missense_Mutation_p.S63F|PTBP2_uc021oqi.1_5'Flank	NM_021190	NP_067013	Q9UKA9	PTBP2_HUMAN	Homo sapiens polypyrimidine tract binding protein 2 (PTBP2), mRNA.	444							nucleotide binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		AAACCTGGATCCAAAAATTTT	0.373000														26			9		0	0	2.17888e-05	0	0
C17orf80	55028	broad.mit.edu	37	17	71231869	71231869	+	Missense_Mutation	SNP	T	G	G	rs148616003		TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr17:71231869T>G	uc002jjm.4	+	2	442	c.248T>G	c.(247-249)gTg>gGg	p.V83G	C17orf80_uc010wqu.1_Missense_Mutation_p.V83G|C17orf80_uc010dfj.3_Missense_Mutation_p.V83G|C17orf80_uc002jjk.1_Missense_Mutation_p.V83G|C17orf80_uc002jjl.4_Missense_Mutation_p.V83G	NM_017941	NP_060411	Q9BSJ5	CQ080_HUMAN	Homo sapiens chromosome 17 open reading frame 80 (C17orf80), transcript variant 1, mRNA.	83						integral to membrane				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			AAGTTGGTGGTGGACAAACCA	0.398000														32			11		0	0	6.40141e-05	0	0
FAM211A	388341	broad.mit.edu	37	17	16347246	16347246	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr17:16347246G>A	uc010cph.1	-	3	867	c.691C>T	c.(691-693)Cgc>Tgc	p.R231C	FAM211A_uc002gqh.2_Missense_Mutation_p.P192L|C17orf76-AS1_uc010vwo.1_Intron|C17orf76-AS1_uc010vwp.1_Intron|C17orf76-AS1_uc010vwl.1_Intron|C17orf76-AS1_uc010vwm.1_Intron|C17orf76-AS1_uc010vwn.1_Intron|C17orf76-AS1_uc021tra.1_Intron|C17orf76-AS1_uc021trb.1_Intron|C17orf76-AS1_uc021trc.1_Intron|C17orf76-AS1_uc010cpe.2_Intron|FAM211A_uc002gqg.1_3'UTR	NM_001113567	NP_001107039	Q8NAA5	CQ076_HUMAN	Homo sapiens family with sequence similarity 211, member A (FAM211A), transcript variant 1, mRNA.	231										lung(1)	1						GTGGTGAGGCGGGGCAGGGTG	0.632000														24			6		0	0	3.59834e-05	0	0
MUC3A	4584	broad.mit.edu	37	7	100551902	100551903	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr7:100551902_100551903GG>TT	uc003uxl.1	+	0	1153_1154	c.353_354GG>TT	c.(352-354)agg>aTT	p.R118I	MUC3A_uc003uxk.1_Non-coding_Transcript					SubName: Full=Intestinal mucin; Flags: Fragment;											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TCTTTCACTAGGGGAAGTACGT	0.436000														598			16		0	0	6.4e-05	0	0
TAF1A	9015	broad.mit.edu	37	1	222743899	222743900	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr1:222743899_222743900GG>TT	uc009xdz.2	-	5	921_922	c.712_713CC>AA	c.(712-714)cct>AAt	p.P238N	TAF1A_uc001hni.2_Missense_Mutation_p.P124N|TAF1A_uc001hnj.3_Missense_Mutation_p.P238N|TAF1A_uc010pur.2_Missense_Mutation_p.P238N	NM_001201536	NP_001188465	Q15573	TAF1A_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa (TAF1A), transcript variant 3, mRNA.	238					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding			kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		CTTCACAAAAGGGTCCCAAACT	0.342000														338			11		0	0	6.4e-05	0	0
DISP1	84976	broad.mit.edu	37	1	223176194	223176195	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr1:223176194_223176195CG>AT	uc001hnu.2	+	9	1781_1782	c.1455_1456CG>AT	c.(1453-1458)accggg>acATgg	p.G486W		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	486	SSD.				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CTACCATCACCGGGATTGAGTT	0.426000														536			17		0	0	6.4e-05	0	0
NLRP11	204801	broad.mit.edu	37	19	56320401	56320402	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr19:56320401_56320402CG>AT	uc010ygf.2	-	4	2285_2286	c.1574_1575CG>AT	c.(1573-1575)tcg>tAT	p.S525Y	NLRP11_uc002qlz.3_Missense_Mutation_p.S426Y|NLRP11_uc002qmb.3_Missense_Mutation_p.S426Y|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	525							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TGTATCCCACCGAGTACCACTT	0.416000														145			5		0	0	6.4e-05	0	0
MAGEB3	4114	broad.mit.edu	37	X	30254167	30254167	+	Silent	SNP	C	T	T			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chrX:30254167C>T	uc022bug.1	+	0	126	c.126C>T	c.(124-126)tcC>tcT	p.S42S	MAGEB3_uc004dca.2_Silent_p.S42S	NM_002365	NP_002356	O15480	MAGB3_HUMAN	Homo sapiens melanoma antigen family B, 3 (MAGEB3), mRNA.	42										NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						CCTTTTCATCCCCTCTTATTT	0.498000														8			11		0	0	6.40141e-05	0	0
BLM	641	broad.mit.edu	37	15	91310218	91310219	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr15:91310218_91310219CC>AA	uc002bpr.3	+	9	2369_2370	c.2272_2273CC>AA	c.(2272-2274)cca>AAa	p.P758K	BLM_uc010uqh.2_Missense_Mutation_p.P758K|BLM_uc010uqi.2_Missense_Mutation_p.P383K|BLM_uc010bnx.3_Missense_Mutation_p.P758K	NM_000057	NP_000048	P54132	BLM_HUMAN	Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA.	758	Helicase ATP-binding.				G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|double-strand break repair via homologous recombination|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	PML body|cytoplasm|lateral element|nuclear matrix|nucleolus	ATP binding|DNA strand annealing activity|G-quadruplex DNA binding|bubble DNA binding|four-way junction helicase activity|p53 binding	p.D757G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			AAAAAAAGACCCAATCATAAAA	0.272000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome					269			10		0	0	6.4e-05	0	0
CECR1	51816	broad.mit.edu	37	22	17688079	17688079	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr22:17688079C>T	uc002zmk.1	-	1	636	c.424G>A	c.(424-426)Ggg>Agg	p.G142R	CECR1_uc010gqu.1_Missense_Mutation_p.G142R|CECR1_uc011agi.1_Missense_Mutation_p.G100R|CECR1_uc011agj.1_Missense_Mutation_p.G100R	NM_017424	NP_059120	Q9NZK5	CECR1_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 1 (CECR1), transcript variant 1, mRNA.	142	PRB domain.				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	Golgi apparatus|extracellular space	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				TGCATGATCCCCCTTGGGGTG	0.532000														15			45		0	0	0.000147903	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	91951	91951	+	RNA	SNP	C	G	G			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chrGL000211.1:91951C>G	uc003bnz.1	+	6		c.1307C>G			FLJ43315_uc003boa.3_Intron					Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		GTAAATTTATCTATAGATTTC	0.318000														11			3		0	0	6.4e-05	0	0
BLM	641	broad.mit.edu	37	15	91308573	91308574	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr15:91308573_91308574GG>TT	uc002bpr.3	+	8	2219_2220	c.2122_2123GG>TT	c.(2122-2124)ggg>TTg	p.G708L	BLM_uc010uqh.2_Missense_Mutation_p.G708L|BLM_uc010uqi.2_Missense_Mutation_p.G333L|BLM_uc010bnx.3_Missense_Mutation_p.G708L	NM_000057	NP_000048	P54132	BLM_HUMAN	Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA.	708	Helicase ATP-binding.				G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|double-strand break repair via homologous recombination|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	PML body|cytoplasm|lateral element|nuclear matrix|nucleolus	ATP binding|DNA strand annealing activity|G-quadruplex DNA binding|bubble DNA binding|four-way junction helicase activity|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			TGTTTCTCCTGGGGTCACTGTT	0.401000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome					350			10		0	0	6.4e-05	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502272	140502272	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr5:140502272T>A	uc003lip.1	+	0	692	c.692T>A	c.(691-693)aTc>aAc	p.I231N		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	231	Cadherin 2.				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)			CGAATCCTGATCATGGACATC	0.537000														53			12		0	0	1.49906e-05	0	0
HERC4	26091	broad.mit.edu	37	10	69785421	69785421	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr10:69785421A>G	uc001jng.4	-	7	1101	c.790T>C	c.(790-792)Ttt>Ctt	p.F264L	HERC4_uc001jnf.4_Non-coding_Transcript|HERC4_uc001jnh.4_Missense_Mutation_p.F264L|HERC4_uc009xpr.3_Missense_Mutation_p.F264L|HERC4_uc001jni.4_Missense_Mutation_p.F8L	NM_022079	NP_071362	Q5GLZ8	HERC4_HUMAN	Homo sapiens hect domain and RLD 4 (HERC4), transcript variant 1, mRNA.	264					cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						CCAAAAGTAAACACTCCACCT	0.358000														23			26		0	0	2.90539e-05	0	0
ZNF248	57209	broad.mit.edu	37	10	38120724	38120724	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr10:38120724T>C	uc001izd.1	-	5	2058	c.1559A>G	c.(1558-1560)tAt>tGt	p.Y520C	ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.3_Intron|ZNF248_uc001izc.3_Intron|ZNF248_uc010qeu.1_Missense_Mutation_p.Y520C	NM_021045	NP_066383	Q8NDW4	ZN248_HUMAN	Homo sapiens zinc finger protein 248 (ZNF248), mRNA.	520					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						ATTACACTTATATGGTTTCTC	0.408000														18			19		0	0	9.7654e-05	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53679806	53679807	+	Missense_Mutation	DNP	CG	AT	AT	rs145665129		TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr16:53679806_53679807CG>AT	uc002ehp.3	-	16	2477_2478	c.2413_2414CG>AT	c.(2413-2415)cga>ATa	p.R805I	RPGRIP1L_uc002eho.4_Missense_Mutation_p.R805I|RPGRIP1L_uc010vgy.2_Missense_Mutation_p.R805I|RPGRIP1L_uc010cbx.3_Missense_Mutation_p.R805I|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.R805I	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	Homo sapiens RPGRIP1-like (RPGRIP1L), transcript variant 1, mRNA.	805	C2 2.				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				GTGGCTTGCTCGGGACTGCAGG	0.436000														478			12		0	0	6.4e-05	0	0
NOX4	50507	broad.mit.edu	37	11	89073294	89073295	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr11:89073294_89073295CC>AA	uc001pct.3	-	14	1621_1622	c.1382_1383GG>TT	c.(1381-1383)tgg>tTT	p.W461F	NOX4_uc009yvr.3_Missense_Mutation_p.W436F|NOX4_uc001pcu.3_Missense_Mutation_p.W387F|NOX4_uc001pcw.3_Missense_Mutation_p.W154F|NOX4_uc001pcx.3_Missense_Mutation_p.W114F|NOX4_uc001pcv.3_Missense_Mutation_p.W421F|NOX4_uc009yvo.3_Non-coding_Transcript|NOX4_uc010rtu.2_Splice_Site_p.W295_splice|NOX4_uc009yvp.3_Missense_Mutation_p.W225F|NOX4_uc010rtv.2_Missense_Mutation_p.W397F|NOX4_uc009yvq.3_Missense_Mutation_p.W437F	NM_016931	NP_001137309	Q9NPH5	NOX4_HUMAN	Homo sapiens NADPH oxidase 4 (NOX4), transcript variant 1, mRNA.	461	Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	NAD(P)H oxidase activity|electron carrier activity|flavin adenine dinucleotide binding|heme binding|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				CTCTGCATACCCAAATAAAGTA	0.342000														146			8		0	0	6.4e-05	0	0
APOB	338	broad.mit.edu	37	2	21235357	21235358	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr2:21235357_21235358CC>AA	uc002red.3	-	25	4510_4511	c.4382_4383GG>TT	c.(4381-4383)tgg>tTT	p.W1461F		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1461					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCTGTGGTCCCCAGGAACTAGA	0.381000														334			9		0	0	6.4e-05	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88876160	88876163	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr2:88876160_88876163CG>AT	uc002stc.4	-	11	2247_2250	c.1945_1948CG>AT	c.(1945-1950)ccgggc>ATgc	p.649_650PG>M		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 3 (EIF2AK3), mRNA.	649	Protein kinase.				ER overload response|activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding	p.G650R(1)		ovary(3)	3						CTAACAATGCCCGGGTGTTCAAGC	0.407000														386			9		0	0	6.4e-05	0	0
NME9	347736	broad.mit.edu	37	3	138033207	138033208	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr3:138033207_138033208GG>TT	uc003esg.3	-	5	454_455	c.426_427CC>AA	c.(424-429)tcccat>tcAAat	p.H143N	NME9_uc003esd.1_Non-coding_Transcript|NME9_uc010huf.1_Missense_Mutation_p.H58N|NME9_uc003ese.1_Missense_Mutation_p.H82N	NM_178130	NP_835231	Q86XW9	TXND6_HUMAN	Homo sapiens NME gene family member 9 (NME9), mRNA.	143					CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell redox homeostasis	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										TTCTTTCCATGGGAAACACATT	0.347000														368			13		0	0	6.4e-05	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50455562	50455562	+	Missense_Mutation	SNP	C	T	T	rs140702198	byFrequency	TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr19:50455562C>T	uc010ybh.2	-	8	1832	c.1741G>A	c.(1741-1743)Gtc>Atc	p.V581I	SIGLEC11_uc010ybi.2_Missense_Mutation_p.V485I	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA.	581					cell adhesion	integral to membrane	sugar binding	p.V569I(1)|p.V581I(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		TACCTGAAGACGACAAGGCAG	0.622000														25			20		0	0	3.10358e-05	0	0
KCTD7	154881	broad.mit.edu	37	7	66104168	66104168	+	Silent	SNP	C	T	T			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr7:66104168C>T	uc003tve.3	+	3	1003	c.819C>T	c.(817-819)aaC>aaT	p.N273N	RABGEF1_uc003tvf.3_Intron|KCTD7_uc003tvd.4_Silent_p.N273N	NM_153033	NP_694578	Q96MP8	KCTD7_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 7 (KCTD7), transcript variant 1, mRNA.	273						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.V272V(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						ACCTCGTGAACCACTACTACT	0.577000														32			12		0	0	0.00010058	0	0
HSPG2	3339	broad.mit.edu	37	1	22178171	22178171	+	Silent	SNP	G	A	A			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr1:22178171G>A	uc009vqd.3	-	54	7069	c.7029C>T	c.(7027-7029)ccC>ccT	p.P2343P	HSPG2_uc001bfj.3_Silent_p.P2342P	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	2342	Ig-like C2-type 9.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CGATGCGGATGGGCTGGGTGC	0.642000														34			8		0	0	3.86212e-05	0	0
NBPF10	100132406	broad.mit.edu	37	1	145311151	145311152	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr1:145311151_145311152CC>AA	uc021oul.1	+	12	1885_1886	c.1850_1851CC>AA	c.(1849-1851)ccc>cAA	p.P617Q	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Missense_Mutation_p.P156Q|NBPF10_uc010oyj.2_5'Flank|NBPF10_uc010oyl.2_5'Flank|NBPF10_uc001emq.1_Missense_Mutation_p.Q292K|NBPF10_uc021oum.1_Missense_Mutation_p.P156Q|NBPF10_uc021oun.1_5'Flank|NBPF10_uc021ouo.1_5'Flank	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	617										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GCAACAGGTCCCAGGTGAGTCT	0.426000														354			11		0	0	6.4e-05	0	0
AIRE	326	broad.mit.edu	37	21	45706946	45706946	+	Silent	SNP	G	A	A			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr21:45706946G>A	uc002zei.2	+	2	520	c.393G>A	c.(391-393)aaG>aaA	p.K131K		NM_000383	NP_000374	O43918	AIRE_HUMAN	Homo sapiens autoimmune regulator (AIRE), transcript variant AIRE-1, mRNA.	131					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		TCCCCACCAAGAGGAAGGCCT	0.697000									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy					17			5		0	0	3.59834e-05	0	0
SSU72	29101	broad.mit.edu	37	1	1480368	1480369	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr1:1480368_1480369CC>AA	uc001agd.3	-	2	563_564	c.238_239GG>TT	c.(238-240)ggg>TTg	p.G80L	SSU72_uc009vkg.1_Missense_Mutation_p.G80L	NM_014188	NP_054907	Q9NP77	SSU72_HUMAN	Homo sapiens SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae) (SSU72), mRNA.	80					mRNA processing	cytoplasm|nucleus	phosphoprotein phosphatase activity			large_intestine(2)|lung(5)	7	all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		ATGTAAAATCCCATTCTGTGTA	0.480000														99			7		0	0	6.4e-05	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64527285	64527286	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr3:64527285_64527286GG>TT	uc003dmg.3	-	33	5240_5241	c.5208_5209CC>AA	c.(5206-5211)ccccag>ccAAag	p.Q1737K	ADAMTS9_uc011bfo.2_Missense_Mutation_p.Q1709K|ADAMTS9_uc011bfp.1_Missense_Mutation_p.Q648K	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	1737	GON.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TTGCAATTCTGGGGTAACTCAC	0.391000														277			10		0	0	6.4e-05	0	0
LRPPRC	10128	broad.mit.edu	37	2	44190810	44190811	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr2:44190810_44190811CC>AA	uc002rtr.2	-	11	1462_1463	c.1404_1405GG>TT	c.(1402-1407)ttggga>ttTTga	p.468_469LG>F*	LRPPRC_uc010yob.1_Nonsense_Mutation_p.368_369LG>F*	NM_133259	NP_573566	P42704	LPPRC_HUMAN	Homo sapiens leucine-rich PPR-motif containing (LRPPRC), mRNA.	468					mRNA transport|mitochondrion transport along microtubule|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	RNA binding|beta-tubulin binding|microtubule binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GGATGTACTCCCAATTCTTGCA	0.366000														378			9		0	0	6.4e-05	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342234	60342234	+	RNA	SNP	C	T	T			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr17:60342234C>T	uc010woz.2	-	13		c.1895G>A								Homo sapiens TBC1 domain family, member 3 pseudogene 2 (TBC1D3P2), non-coding RNA.											breast(2)|kidney(1)|lung(2)	5						GTCTGGTGTGCTCCATCTCTG	0.498000														26			4		0	0	1.23904e-05	0	0
GRIA3	2892	broad.mit.edu	37	X	122551412	122551412	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chrX:122551412G>A	uc004etq.4	+	10	1952	c.1660G>A	c.(1660-1662)Gaa>Aaa	p.E554K	GRIA3_uc004etr.4_Missense_Mutation_p.E554K|GRIA3_uc004ets.4_Non-coding_Transcript|GRIA3_uc011muf.1_Missense_Mutation_p.E538K	NM_007325	NP_015564	P42263	GRIA3_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	554					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	CCTGGCTTATGAAATCTGGAT	0.428000														135			88		0	0	0.000147903	0	0
DOCK11	139818	broad.mit.edu	37	X	117752567	117752567	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chrX:117752567T>C	uc004eqp.2	+	30	3410	c.3347T>C	c.(3346-3348)gTt>gCt	p.V1116A	DOCK11_uc004eqq.2_Missense_Mutation_p.V895A	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.	1116					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CACTTCTTGGTTGGTCTACTT	0.318000														52			28		0	0	3.70037e-05	0	0
RSRC2	65117	broad.mit.edu	37	12	123001841	123001841	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr12:123001841G>A	uc001ucr.3	-	4	695	c.535C>T	c.(535-537)Cgt>Tgt	p.R179C	RSRC2_uc001uco.3_5'UTR|RSRC2_uc001ucp.3_Missense_Mutation_p.R120C|RSRC2_uc001ucs.3_5'UTR|RSRC2_uc001uct.3_Missense_Mutation_p.R131C|RSRC2_uc021rfm.1_Missense_Mutation_p.R179C	NM_023012	NP_075388	Q7L4I2	RSRC2_HUMAN	Homo sapiens arginine/serine-rich coiled-coil 2 (RSRC2), transcript variant 1, mRNA.	179	Ser-rich.									breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		GAGCGGGAACGAGACCTGATC	0.483000														27			39		0	0	0.000125731	0	0
TFAP2D	83741	broad.mit.edu	37	6	50712873	50712873	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr6:50712873C>T	uc003paf.3	+	5	1449	c.937C>T	c.(937-939)Cca>Tca	p.P313S	TFAP2D_uc011dwt.2_Non-coding_Transcript	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	Homo sapiens transcription factor AP-2 delta (activating enhancer binding protein 2 delta) (TFAP2D), mRNA.	313	H-S-H (helix-span-helix), dimerization.						DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					AACAGAGTTTCCAGCCAAAGC	0.453000														19			18		0	0	9.7654e-05	0	0
KCNT1	57582	broad.mit.edu	37	9	138670652	138670652	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr9:138670652G>A	uc011mdq.2	+	22	2787	c.2713G>A	c.(2713-2715)Gtg>Atg	p.V905M	KCNT1_uc011mdr.2_Missense_Mutation_p.V732M|KCNT1_uc010nbf.3_Missense_Mutation_p.V860M|KCNT1_uc004cgo.1_Missense_Mutation_p.V654M	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	905						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CATCGTCAACGTGCAGACCAT	0.637000														10			11		0	0	6.40141e-05	0	0
TPTE	7179	broad.mit.edu	37	21	11012916	11012916	+	Splice_Site	SNP	C	A	A	rs4041777		TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr21:11012916C>A	uc002yis.1	-	9		c.1704_splice	c.e9+1					P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA.						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCAAATTTTACCTAGCTTTTT	0.299000														44			29		1.77063e-15	1.60455e-13	0.000117367	1	0
SIGLEC17P	284367	broad.mit.edu	37	19	51671531	51671531	+	Missense_Mutation	SNP	C	T	T	rs139300887	by1000genomes	TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr19:51671531C>T	uc010ycv.2	+	2	680	c.670C>T	c.(670-672)Cgg>Tgg	p.R224W	SIGLEC17P_uc010ycu.2_Missense_Mutation_p.R224W|SIGLEC17P_uc002pvy.4_Missense_Mutation_p.R224W|SIGLEC17P_uc002pvz.4_Missense_Mutation_p.R224W					Homo sapiens sialic acid binding Ig-like lectin, pseudogene 3 (SIGLECP3), non-coding RNA.																		GATCATCCCACGGCCTCAGGA	0.627000														13			5		0	0	1.23904e-05	0	0
UPF2	26019	broad.mit.edu	37	10	11994238	11994238	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr10:11994238C>A	uc001ila.3	-	13	3335	c.2861G>T	c.(2860-2862)tGg>tTg	p.W954L	UPF2_uc001ilb.3_Missense_Mutation_p.W954L|UPF2_uc001ilc.3_Missense_Mutation_p.W954L|UPF2_uc009xiz.2_Missense_Mutation_p.W954L	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	Homo sapiens UPF2 regulator of nonsense transcripts homolog (yeast) (UPF2), transcript variant 1, mRNA.	954	MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	RNA binding|identical protein binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TTTCTTCCACCAAACATAACG	0.294000														216			9		1.58986e-06	0.000142752	3.86212e-05	1	0
ARMCX3	51566	broad.mit.edu	37	X	100881092	100881093	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chrX:100881092_100881093CC>AA	uc022cap.1	+	0	1123_1124	c.1123_1124CC>AA	c.(1123-1125)cca>AAa	p.P375K	ARMCX3_uc004ehz.1_Missense_Mutation_p.P375K|ARMCX3_uc004eia.1_Missense_Mutation_p.P375K|ARMCX3_uc004eib.1_Missense_Mutation_p.P375K|ARMCX3_uc004eic.1_Missense_Mutation_p.P375K	NM_177948	NP_808817	Q9UH62	ARMX3_HUMAN	Homo sapiens armadillo repeat containing, X-linked 3 (ARMCX3), transcript variant 3, mRNA.	375						integral to membrane	binding	p.P375Q(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						ACATATGTTCCCAAAGAGCCAG	0.351000														170			7		0	0	6.4e-05	0	0
CLCC1	23155	broad.mit.edu	37	1	109479864	109479865	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr1:109479864_109479865GG>TT	uc021ora.1	-	8	1228_1229	c.1217_1218CC>AA	c.(1216-1218)ccc>cAA	p.P406Q	AKNAD1_uc010ovb.2_Intron|CLCC1_uc001dwg.1_Missense_Mutation_p.P356Q|CLCC1_uc001dwf.1_Missense_Mutation_p.P406Q|CLCC1_uc009wes.1_Missense_Mutation_p.P285Q|CLCC1_uc009wet.1_Missense_Mutation_p.P221Q	NM_001048210	NP_001041675	Q96S66	CLCC1_HUMAN	Homo sapiens chloride channel CLIC-like 1 (CLCC1), transcript variant 1, mRNA.	406						Golgi apparatus|endoplasmic reticulum|integral to membrane|nucleus				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		CTTGCTCAGTGGGGCCCATTTG	0.500000														199			8		0	0	6.4e-05	0	0
PIK3CB	5291	broad.mit.edu	37	3	138452272	138452273	+	Missense_Mutation	DNP	CC	AA	AA	rs147232279		TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr3:138452272_138452273CC>AA	uc011bmq.2	-	5	980_981	c.980_981GG>TT	c.(979-981)tgg>tTT	p.W327F		NM_006219	NP_006210	P42338	PK3CB_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA.	327					G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						TGTTATTTTCCCAAACATGCTG	0.292000														187			10		0	0	6.4e-05	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142481789	142481789	+	Silent	SNP	T	C	C	rs140267598	by1000genomes	TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr7:142481789T>C	uc011ksq.2	+	3	551	c.468T>C	c.(466-468)gaT>gaC	p.D156D	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.																		ACTACCCAGATGAGCTGCAGT	0.488000														7			3		0	0	1.23904e-05	0	0
CHRM3	1131	broad.mit.edu	37	1	240071307	240071307	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr1:240071307G>C	uc021plc.1	+	0	556	c.556G>C	c.(556-558)Ggt>Cgt	p.G186R	CHRM3_uc001hyp.3_Missense_Mutation_p.G186R	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	186					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	AAAGAGAGCCGGTGTGATGAT	0.502000														134			5		0	0	5.18039e-06	0	0
TFIP11	24144	broad.mit.edu	37	22	26894937	26894937	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr22:26894937C>G	uc003acr.2	-	8	1708	c.1334G>C	c.(1333-1335)tGc>tCc	p.C445S	TFIP11_uc003acs.2_Missense_Mutation_p.C445S|TFIP11_uc003act.2_Missense_Mutation_p.C445S	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN	Homo sapiens tuftelin interacting protein 11 (TFIP11), transcript variant 2, mRNA.	445					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						GCCATAAGTGCAGTCCTGAGG	0.557000														60			16		0	0	3.45872e-05	0	0
G3BP2	9908	broad.mit.edu	37	4	76584050	76584051	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr4:76584050_76584051GG>TT	uc003hir.3	-	2	318_319	c.153_154CC>AA	c.(151-156)ccccag>ccAAag	p.Q52K	G3BP2_uc003his.3_Missense_Mutation_p.Q52K|G3BP2_uc003hit.3_Missense_Mutation_p.Q52K	NM_012297	NP_987101	Q9UN86	G3BP2_HUMAN	Homo sapiens GTPase activating protein (SH3 domain) binding protein 2 (G3BP2), transcript variant 2, mRNA.	52	NTF2.				Ras protein signal transduction|cytoplasmic sequestering of NF-kappaB|mRNA transport|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|RNA binding|nucleotide binding|receptor signaling complex scaffold activity			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			ACAGCTTCCTGGGGCTTTCCAC	0.347000														154			7		0	0	6.4e-05	0	0
PLEKHF2	79666	broad.mit.edu	37	8	96166913	96166914	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr8:96166913_96166914GG>TT	uc022ayk.1	+	0	641_642	c.641_642GG>TT	c.(640-642)ggg>gTT	p.G214V	PLEKHF2_uc003yhn.2_Missense_Mutation_p.G214V	NM_024613	NP_078889	Q9H8W4	PKHF2_HUMAN	Homo sapiens pleckstrin homology domain containing, family F (with FYVE domain) member 2 (PLEKHF2), mRNA.	214						transport vesicle	metal ion binding|protein binding			breast(1)|large_intestine(1)|lung(1)|ovary(2)	5	Breast(36;3.18e-05)					CTTTCTGCTGGGGACATGGCCA	0.480000														382			11		0	0	6.4e-05	0	0
CEP41	95681	broad.mit.edu	37	7	130067831	130067832	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr7:130067831_130067832GG>TT	uc003vpz.3	-	1	108_109	c.61_62CC>AA	c.(61-63)cca>AAa	p.P21K	CEP41_uc010lmf.3_5'UTR|CEP41_uc003vqa.3_Missense_Mutation_p.P21K|CEP41_uc011kpg.2_Missense_Mutation_p.P21K|CEP41_uc003vqb.1_Non-coding_Transcript	NM_018718	NP_061188	Q9BYV8	CEP41_HUMAN	Homo sapiens centrosomal protein 41kDa (CEP41), mRNA.	21					G2/M transition of mitotic cell cycle	centrosome|cytosol											CTGGTATCTTGGGTTCTGTGGT	0.312000														649			20		0	0	6.4e-05	0	0
SLITRK1	114798	broad.mit.edu	37	13	84453583	84453583	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr13:84453583T>C	uc001vlk.3	-	0	2946	c.2060A>G	c.(2059-2061)tAt>tGt	p.Y687C		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	687						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GCCACAGTCATACACTCTGTG	0.587000														18			7		0	0	8.12818e-05	0	0
MIA3	375056	broad.mit.edu	37	1	222801195	222801196	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr1:222801195_222801196CC>AA	uc001hnl.3	+	3	642_643	c.633_634CC>AA	c.(631-636)tcccat>tcAAat	p.H212N	MIA3_uc009xea.1_Missense_Mutation_p.H48N	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA.	212					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AGCACCACTCCCATGCAAACAG	0.416000														368			9		0	0	6.4e-05	0	0
NBPF14	25832	broad.mit.edu	37	1	148012531	148012531	+	Silent	SNP	C	T	T			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr1:148012531C>T	uc001eqq.3	-	11	1460	c.1428G>A	c.(1426-1428)aaG>aaA	p.K476K	NBPF14_uc001eqe.3_Intron|NBPF14_uc001eqf.3_Intron|NBPF14_uc001eqg.3_Intron|FLJ39739_uc001eqo.1_Intron|NBPF14_uc021ovz.1_Intron|NBPF14_uc021owa.1_Intron|NBPF14_uc021owb.1_Silent_p.K387K|NBPF14_uc021owc.1_Silent_p.K143K|NBPF14_uc021owe.1_Intron|NBPF14_uc021owf.1_Non-coding_Transcript|NBPF14_uc021owg.1_Silent_p.K631K|NBPF14_uc021owh.1_Silent_p.K387K|NBPF14_uc010pad.1_5'Flank|NBPF14_uc021owd.1_Intron	NM_015383	NP_056198	Q5TI25	NBPFE_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 14 (NBPF14), mRNA.	476	NBPF 5.					cytoplasm		p.K476K(4)|p.K476N(2)|p.E475Q(1)|p.K476Q(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					AGCCAACATGCTTTTCCTCCA	0.443000														8			4		0	0	2.56e-06	0	0
PPFIA4	8497	broad.mit.edu	37	1	203008129	203008129	+	Frame_Shift_Del	DEL	C	-	-			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr1:203008129delC	uc009xaj.3	+	5	434	c.434delC	c.(433-435)accfs	p.T145fs				O75335	LIPA4_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 (PPFIA4), mRNA.	61					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						GCCCTGCCAACCCCCACCATG	0.642											OREG0014109	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	4	---	---	2	---					
PXDN	7837	broad.mit.edu	37	2	1637997	1637998	+	Frame_Shift_Ins	INS	-	TT	TT			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr2:1637997_1637998insTT	uc002qxa.3	-	22	4482_4483	c.4418_4419insAA	c.(4417-4419)aagfs	p.K1473fs		NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	1473					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CCTCCGCCCTCTTCTGTAAGCA	0.639													---	4	---	---	2	---					
ETV7	51513	broad.mit.edu	37	6	36341294	36341294	+	Frame_Shift_Del	DEL	C	-	-	rs3213530	byFrequency	TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr6:36341294delC	uc003omb.3	-	3	628	c.369delG	c.(367-369)gggfs	p.G123fs	ETV7_uc003olz.2_Frame_Shift_Del_p.G123fs|ETV7_uc003oma.2_Frame_Shift_Del_p.G68fs|ETV7_uc003omc.3_Frame_Shift_Del_p.G68fs|ETV7_uc010jwj.3_Frame_Shift_Del_p.G64fs|ETV7_uc010jwi.3_Frame_Shift_Del_p.G123fs|ETV7_uc010jwh.3_Frame_Shift_Del_p.G42fs|ETV7_uc011dtl.2_5'UTR	NM_016135	NP_001193970	Q9Y603	ETV7_HUMAN	Homo sapiens ets variant 7 (ETV7), transcript variant 1, mRNA.	123					organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						CAAAAAAGGGCCCACACACCA	0.627													---	4	---	---	2	---					
EIF3B	8662	broad.mit.edu	37	7	2419064	2419064	+	Frame_Shift_Del	DEL	G	-	-			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr7:2419064delG	uc003slx.3	+	17	2460	c.2377delG	c.(2377-2379)gacfs	p.D793fs	EIF3B_uc003sly.3_Frame_Shift_Del_p.D793fs|EIF3B_uc003sma.3_Frame_Shift_Del_p.D521fs|EIF3B_uc003smb.3_Non-coding_Transcript	NM_003751	NP_003742	P55884	EIF3B_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit B (EIF3B), transcript variant 1, mRNA.	793			D -> E (in dbSNP:rs1063257).		regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		CAACGTGGACGACTGGGAAGA	0.602													---	4	---	---	2	---					
CD44	960	broad.mit.edu	37	11	35160867	35160867	+	Frame_Shift_Del	DEL	G	-	-			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr11:35160867delG	uc001mvu.3	+	0	451	c.17delG	c.(16-18)tggfs	p.W6fs	CD44_uc021qfw.1_Frame_Shift_Del_p.W6fs|CD44_uc001mvv.3_Frame_Shift_Del_p.W6fs|CD44_uc001mvw.3_Frame_Shift_Del_p.W6fs|CD44_uc001mwc.4_Frame_Shift_Del_p.W6fs|CD44_uc001mvx.3_Frame_Shift_Del_p.W6fs|CD44_uc010rer.2_Frame_Shift_Del_p.W6fs|CD44_uc001mvy.3_Frame_Shift_Del_p.W6fs|CD44_uc009ykh.3_Non-coding_Transcript	NM_000610	NP_000601	P16070	CD44_HUMAN	Homo sapiens CD44 molecule (Indian blood group) (CD44), transcript variant 1, mRNA.	6					cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	Golgi apparatus|cell surface|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	AAGTTTTGGTGGCACGCAGCC	0.716													---	4	---	---	2	---					
CDH19	28513	broad.mit.edu	37	18	64197127	64197128	+	Frame_Shift_Ins	INS	-	G	G			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr18:64197127_64197128insG	uc002lkc.1	-	8	1550_1551	c.1412_1413insC	c.(1411-1413)tctfs	p.S471fs	CDH19_uc010dql.1_Non-coding_Transcript|CDH19_uc010xey.1_Frame_Shift_Ins_p.S471fs	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	Homo sapiens cadherin 19, type 2 (CDH19), mRNA.	471	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				CATAGTATTGAGAGAACTCAGG	0.317													---	92	---	---	25	---					
OR7E24	26648	broad.mit.edu	37	19	9361741	9361741	+	Frame_Shift_Del	DEL	T	-	-			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chr19:9361741delT	uc002mlb.1	+	0	22	c.22delT	c.(22-24)tttfs	p.F8fs		NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily E, member 24 (OR7E24), mRNA.	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TCCAATTCTCTTTTTTTTTTT	0.388													---	6	---	---	3	---					
LDOC1	23641	broad.mit.edu	37	X	140271057	140271063	+	Frame_Shift_Del	DEL	CGGGCAG	-	-			TCGA-D3-A3CE-06A-11D-A19A-08	TCGA-D3-A3CE-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dba28b3d-826a-429e-849f-740d9a8344cb	1b6a33a9-bfd6-4890-afd4-63723ccee5ff	g.chrX:140271057_140271063delCGGGCAG	uc004fbj.3	-	0	248_254	c.144_150delCTGCCCG	c.(142-150)agctgcccgfs	p.S48fs		NM_012317	NP_036449	O95751	LDOC1_HUMAN	Homo sapiens leucine zipper, down-regulated in cancer 1 (LDOC1), mRNA.	48					negative regulation of cell proliferation	nucleus	protein binding	p.P50L(2)		endometrium(6)|large_intestine(1)|lung(6)|ovary(1)	14	Acute lymphoblastic leukemia(192;7.65e-05)					GGAAGGGCACCGGGCAGCTCGGCGGAC	0.638													---	12	---	---	8	---					
