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
SLC52A2	79581	broad.mit.edu	37	8	145583729	145583729	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr8:145583729G>A	uc003zcc.2	+	2	741	c.577G>A	c.(577-579)Gcc>Acc	p.A193T	FBXL6_uc003zbz.3_5'Flank|FBXL6_uc003zca.3_5'Flank|FBXL6_uc003zcb.3_5'Flank|FBXL6_uc010mfx.3_5'Flank|SLC52A2_uc003zce.2_Missense_Mutation_p.A193T|SLC52A2_uc010mfy.2_Missense_Mutation_p.A193T|SLC52A2_uc011llc.2_Missense_Mutation_p.A105T|SLC52A2_uc003zcd.2_Missense_Mutation_p.A193T	NM_001253816	NP_001240745	Q9HAB3	RFT3_HUMAN	Homo sapiens G protein-coupled receptor 172A (GPR172A), transcript variant 3, mRNA.	193						integral to plasma membrane	receptor activity|riboflavin transporter activity										GCGTTTTCCCGCCAGCACCTT	0.662000														138			8		0	0	0.278610	0	0
ZNF492	57615	broad.mit.edu	37	19	22817127	22817127	+	Splice_Site	SNP	T	G	G			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr19:22817127T>G	uc002nqw.3	+	1	1	c.-243_splice	c.e1-1			NM_020855	NP_065906	Q9P255	ZN492_HUMAN	Homo sapiens zinc finger protein 492 (ZNF492), mRNA.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				TGTGGCGGGGTCTTTGTCTCT	0.597000														11			7		0	0	0.608945	0	0
DNAH3	55567	broad.mit.edu	37	16	21049263	21049263	+	Silent	SNP	C	T	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr16:21049263C>T	uc010vbe.2	-	33	4770	c.4770G>A	c.(4768-4770)tcG>tcA	p.S1590S		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1590	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACAGTTGTTCCGAGCACAGGC	0.547000														29			16		0	0	0.500413	0	0
KRT16	3868	broad.mit.edu	37	17	39768742	39768742	+	Missense_Mutation	SNP	C	T	T	rs62066634	byFrequency	TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr17:39768742C>T	uc002hxg.4	-	0	338	c.199G>A	c.(199-201)Ggc>Agc	p.G67S	JUP_uc010wfs.2_Intron|KRT16_uc021txm.1_Missense_Mutation_p.G67S	NM_005557	NP_005548	P08779	K1C16_HUMAN	Homo sapiens keratin 16 (KRT16), mRNA.	67	Head.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				CCGCCATAGCCGCCCCCCAGC	0.692000														14			5		0	0	0.184627	0	0
CPXCR1	53336	broad.mit.edu	37	X	88009269	88009269	+	Missense_Mutation	SNP	T	A	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:88009269T>A	uc022bzq.1	+	0	854	c.854T>A	c.(853-855)tTt>tAt	p.F285Y	CPXCR1_uc004efd.4_Missense_Mutation_p.F285Y|CPXCR1_uc004efc.4_Missense_Mutation_p.F285Y	NM_033048	NP_149037	Q8N123	CPXCR_HUMAN	Homo sapiens CPX chromosome region, candidate 1 (CPXCR1), transcript variant 1, mRNA.	285						intracellular	zinc ion binding			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						GGAAGGCTTTTTAACACTTAC	0.303000														37			26		0	0	0.729181	0	0
TPTEP1	387590	broad.mit.edu	37	22	17178700	17178700	+	RNA	SNP	G	A	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr22:17178700G>A	uc002zls.1	+	2		c.782G>A								Homo sapiens transmembrane phosphatase with tensin homology pseudogene 1 (TPTEP1), non-coding RNA.																		GCAACGCGCCGCAGCTCTGAC	0.622000														25			15		0	0	0.557998	0	0
KDR	3791	broad.mit.edu	37	4	55961110	55961110	+	Nonsense_Mutation	SNP	G	A	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr4:55961110G>A	uc003has.3	-	20	3132	c.2830C>T	c.(2830-2832)Cga>Tga	p.R944*	KDR_uc003hat.1_Nonsense_Mutation_p.R944*	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	944	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	p.R944R(2)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TGACGGAATCGTGCCCCTTTG	0.433000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				61			31		0	0	0.750413	0	0
FAT2	2196	broad.mit.edu	37	5	150924339	150924339	+	Nonsense_Mutation	SNP	G	A	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr5:150924339G>A	uc003lue.4	-	8	6362	c.6349C>T	c.(6349-6351)Cga>Tga	p.R2117*		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	2117	Cadherin 18.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.R2117*(2)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGTCAATTCGGAAATATGTG	0.428000														139			62		0	0	0.870114	0	0
CYP2S1	29785	broad.mit.edu	37	19	41703792	41703792	+	Missense_Mutation	SNP	C	T	T	rs148695011		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr19:41703792C>T	uc002opw.3	+	2	507	c.452C>T	c.(451-453)gCg>gTg	p.A151V	CYP2S1_uc010xvx.2_Intron	NM_030622	NP_085125	Q96SQ9	CP2S1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily S, polypeptide 1 (CYP2S1), mRNA.	151					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						CTGATCCAGGCGGAGGCCCGG	0.622000														44			9		0	0	0.335167	0	0
SLC25A14	9016	broad.mit.edu	37	X	129498601	129498601	+	Splice_Site	SNP	G	A	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:129498601G>A	uc004evr.1	+	8	851	c.679_splice	c.e8-1	p.G227_splice	SLC25A14_uc010nrg.3_Splice_Site_p.G196_splice|SLC25A14_uc011mut.2_Splice_Site_p.G135_splice|SLC25A14_uc011muu.2_Splice_Site_p.G199_splice|SLC25A14_uc004evp.1_Splice_Site_p.G199_splice|SLC25A14_uc004evq.1_Splice_Site_p.G196_splice	NM_022810	NP_073721	O95258	UCP5_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier, brain), member 14 (SLC25A14), nuclear gene encoding mitochondrial protein, transcript variant short, mRNA.	199					aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						GTGTTTCGTAGGGTGTGGTTC	0.408000														89			36		0	0	0.827153	0	0
ZNF665	79788	broad.mit.edu	37	19	53668011	53668011	+	Missense_Mutation	SNP	C	G	G			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr19:53668011C>G	uc010eqm.1	-	3	1832	c.1732G>C	c.(1732-1734)Gca>Cca	p.A578P		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	Homo sapiens zinc finger protein 665 (ZNF665), mRNA.	513					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		ACACTAAATGCTTTGCCGCAC	0.398000														164			24		0	0	0.639603	0	0
NDST1	3340	broad.mit.edu	37	5	149914501	149914501	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr5:149914501T>C	uc003lsk.4	+	4	1671	c.1169T>C	c.(1168-1170)aTg>aCg	p.M390T	NDST1_uc011dcj.2_Missense_Mutation_p.M390T|NDST1_uc003lsl.3_Missense_Mutation_p.M390T	NM_001543	NP_001534	P52848	NDST1_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 (NDST1), mRNA.	390	Heparan sulfate N-deacetylase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCCCCCACATGTGGAGCCAC	0.552000														52			31		0	0	0.740014	0	0
CA13	377677	broad.mit.edu	37	8	86180769	86180769	+	Silent	SNP	A	G	G	rs143754749		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr8:86180769A>G	uc003ydg.2	+	5	924	c.582A>G	c.(580-582)acA>acG	p.T194T	CA13_uc003ydf.1_Non-coding_Transcript	NM_198584	NP_940986	Q8N1Q1	CAH13_HUMAN	Homo sapiens carbonic anhydrase XIII (CA13), mRNA.	194					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			large_intestine(1)|lung(6)	7						ACTACTGGACATATCCTGGTT	0.403000														137			7		0	0	0.248553	0	0
RP1	6101	broad.mit.edu	37	8	55534023	55534023	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr8:55534023C>T	uc003xsd.1	+	1	645	c.497C>T	c.(496-498)aCg>aTg	p.T166M	RP1_uc011ldy.1_Missense_Mutation_p.T166M	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	166	Doublecortin 2.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.T166M(2)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GACCCGAAGACGAGGCGTGCG	0.642000														98			48		0	0	0.870114	0	0
CYLC1	1538	broad.mit.edu	37	X	83129576	83129576	+	Missense_Mutation	SNP	G	T	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:83129576G>T	uc004eei.1	+	3	1881	c.1860G>T	c.(1858-1860)aaG>aaT	p.K620N	CYLC1_uc004eeh.1_Missense_Mutation_p.K619N	NM_021118	NP_066941	P35663	CYLC1_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA.	620	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						CATCACCAAAGGTCAGACGTC	0.433000														51			32		3.86903e-22	4.18487e-22	0.769981	1	0
FAM71B	153745	broad.mit.edu	37	5	156590151	156590151	+	Silent	SNP	C	T	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr5:156590151C>T	uc003lwn.3	-	1	1225	c.1125G>A	c.(1123-1125)gcG>gcA	p.A375A		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	375						nucleus		p.A375V(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGCCTGCAAACGCCGCACTCA	0.582000														54			21		0	0	0.608945	0	0
CUX2	23316	broad.mit.edu	37	12	111729243	111729243	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr12:111729243C>T	uc001tsa.2	+	4	477	c.323C>T	c.(322-324)gCg>gTg	p.A108V	CUX2_uc001tsb.2_Missense_Mutation_p.A163V	NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	108						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A108A(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GTGTTTGAGGCGGCACGCAGC	0.652000														90			47		0	0	0.870114	0	0
LRP2	4036	broad.mit.edu	37	2	170038807	170038807	+	Missense_Mutation	SNP	G	A	A	rs144973875		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:170038807G>A	uc002ues.3	-	50	10081	c.9868C>T	c.(9868-9870)Cgc>Tgc	p.R3290C		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	3290					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity	p.R3290C(2)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CCATCCAGGCGGGCATCCAAC	0.502000														104			30		0	0	0.717897	0	0
FASLG	356	broad.mit.edu	37	1	172628551	172628551	+	Silent	SNP	C	A	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr1:172628551C>A	uc001gis.3	+	0	367	c.210C>A	c.(208-210)ccC>ccA	p.P70P	FASLG_uc001git.3_Silent_p.P70P	NM_000639	NP_000630	P48023	TNFL6_HUMAN	Homo sapiens Fas ligand (TNF superfamily, member 6) (FASLG), mRNA.	70	Pro-rich.				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						cgctgccaccCCTGAAGAAGA	0.617000														20			9		3.86212e-05	3.93639e-05	0.361761	1	0
THSD7B	80731	broad.mit.edu	37	2	138378230	138378230	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:138378230G>A	uc002tva.1	+	18	3643	c.3643G>A	c.(3643-3645)Gtg>Atg	p.V1215M	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GGTGGAATGCGTGGTCAACTG	0.468000														104			59		0	0	0.870114	0	0
NMBR	4829	broad.mit.edu	37	6	142397176	142397176	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr6:142397176C>T	uc003qiu.3	-	2	923	c.782G>A	c.(781-783)cGg>cAg	p.R261Q		NM_002511	NP_002502	P28336	NMBR_HUMAN	Homo sapiens neuromedin B receptor (NMBR), mRNA.	261					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		CAGGCGTTTCCGTGTTTCCAT	0.378000														50			24		0	0	0.639603	0	0
abParts	0	broad.mit.edu	37	22	22664186	22664186	+	RNA	SNP	A	G	G			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr22:22664186A>G	uc021wml.1	+	31		c.2628A>G			abParts_uc011aiq.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		CAGATCAAGAAAGCACTCTGA	0.498000														95			4		0	0	0.217242	0	0
CYP1A2	1544	broad.mit.edu	37	15	75042332	75042332	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr15:75042332G>A	uc002ayr.1	+	1	317	c.253G>A	c.(253-255)Gtg>Atg	p.V85M		NM_000761	NP_000752	P05177	CP1A2_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA.	85					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	CTCCACGCCCGTGCTGGTGCT	0.667000														57			30		0	0	0.706142	0	0
ANLN	54443	broad.mit.edu	37	7	36492182	36492182	+	Silent	SNP	T	C	C			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr7:36492182T>C	uc003tff.3	+	23	3552	c.3348T>C	c.(3346-3348)gcT>gcC	p.A1116A	ANLN_uc011kaz.2_Silent_p.A1028A|ANLN_uc003tfg.3_Silent_p.A1079A|ANLN_uc010kxe.3_Silent_p.A1078A	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	Homo sapiens anillin, actin binding protein (ANLN), mRNA.	1116	Localization to the cleavage furrow.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						AACCTGATGCTTGCTACAAAC	0.408000														489			141		0	0	0.870114	0	0
TTC27	55622	broad.mit.edu	37	2	32858959	32858959	+	Missense_Mutation	SNP	C	G	G			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:32858959C>G	uc002rom.3	+	2	556	c.283C>G	c.(283-285)Cta>Gta	p.L95V	TTC27_uc010ymx.2_Missense_Mutation_p.L45V|MIR4765_uc021vfs.1_5'Flank	NM_017735	NP_001180438	Q6P3X3	TTC27_HUMAN	Homo sapiens tetratricopeptide repeat domain 27 (TTC27), transcript variant 1, mRNA.	95							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						GTTGATATTTCTACTTGGTGT	0.368000														97			22		0	0	0.592651	0	0
EBF1	1879	broad.mit.edu	37	5	158158158	158158158	+	Silent	SNP	G	A	A	rs146276323		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr5:158158158G>A	uc010jip.3	-	10	1346	c.1044C>T	c.(1042-1044)aaC>aaT	p.N348N	EBF1_uc011ddw.2_Silent_p.N216N|EBF1_uc011ddx.2_Silent_p.N349N|EBF1_uc003lxl.4_Silent_p.N317N	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	Homo sapiens early B-cell factor 1 (EBF1), mRNA.	348					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGTGGGTTCGTTGAGCGCTG	0.448000			T	HMGA2	lipoma									32			10		0	0	0.361761	0	0
AMFR	267	broad.mit.edu	37	16	56396893	56396893	+	Silent	SNP	G	A	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr16:56396893G>A	uc002eiy.3	-	13	2065	c.1860C>T	c.(1858-1860)gaC>gaT	p.D620D	AMFR_uc002eix.3_Silent_p.D254D	NM_001144	NP_001135	Q9UKV5	AMFR2_HUMAN	Homo sapiens autocrine motility factor receptor (AMFR), mRNA.	620					ER-associated protein catabolic process|endoplasmic reticulum unfolded protein response|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						GGGTCACGGGGTCAGAGGACG	0.567000														16			29		0	0	0.740014	0	0
GATA6	2627	broad.mit.edu	37	18	19751314	19751314	+	Missense_Mutation	SNP	C	A	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr18:19751314C>A	uc002ktt.1	+	1	474	c.209C>A	c.(208-210)gCg>gAg	p.A70E	GATA6_uc002ktu.1_Missense_Mutation_p.A70E	NM_005257	NP_005248	Q92908	GATA6_HUMAN	Homo sapiens GATA binding protein 6 (GATA6), mRNA.	70					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			ACGGAGGCGGCGGCCGGACCC	0.761000														17			6		5.9392e-07	6.11219e-07	0.217242	1	0
BOD1L1	259282	broad.mit.edu	37	4	13605416	13605416	+	Silent	SNP	G	A	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr4:13605416G>A	uc003gmz.1	-	9	3225	c.3108C>T	c.(3106-3108)gaC>gaT	p.D1036D	BOD1L1_uc010idr.1_Silent_p.D373D	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA.	1036	Lys-rich.						DNA binding										ATTTATTTTCGTCCTTCTTTT	0.378000														104			66		0	0	0.870114	0	0
AHCY	191	broad.mit.edu	37	20	32873405	32873405	+	Silent	SNP	G	A	A	rs139344907	byFrequency	TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr20:32873405G>A	uc002xai.3	-	8	1147	c.1008C>T	c.(1006-1008)atC>atT	p.I336I	AHCY_uc002xaj.3_Silent_p.I308I	NM_000687	NP_001155238	P23526	SAHH_HUMAN	Homo sapiens adenosylhomocysteinase (AHCY), transcript variant 1, mRNA.	336					methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CCAGCAGGATGATGCGGCGCC	0.632000														134			9		0	0	0.335167	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1995491	1995491	+	Silent	SNP	G	A	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr12:1995491G>A	uc021qsx.1	-	7	1122	c.891C>T	c.(889-891)gaC>gaT	p.D297D	CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Intron	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	297	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TGCCGCTCACGTCCACCAAAA	0.488000														41			28		0	0	0.717897	0	0
TRHDE	29953	broad.mit.edu	37	12	72893328	72893328	+	Silent	SNP	C	T	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr12:72893328C>T	uc001sxa.3	+	5	1530	c.1500C>T	c.(1498-1500)gaC>gaT	p.D500D		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	500					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.D500D(2)|p.D500N(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TGCTGCTGGACGGTTTGGCCA	0.458000														50			34		0	0	0.769981	0	0
OR2G6	391211	broad.mit.edu	37	1	248685544	248685544	+	Silent	SNP	C	T	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr1:248685544C>T	uc001ien.1	+	0	597	c.597C>T	c.(595-597)ctC>ctT	p.L199L		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGGCAGAACTCTTTGTGGCCA	0.473000														70			29		0	0	0.717897	0	0
GRK7	131890	broad.mit.edu	37	3	141497220	141497220	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr3:141497220C>T	uc011bnd.2	+	0	178	c.94C>T	c.(94-96)Cgg>Tgg	p.R32W		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	Homo sapiens G protein-coupled receptor kinase 7 (GRK7), mRNA.	32					visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						AGAGCTGCAGCGGCGGCGGCG	0.682000														47			15		0	0	0.539581	0	0
COL6A3	1293	broad.mit.edu	37	2	238274357	238274357	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:238274357G>A	uc002vwl.2	-	11	6107	c.5822C>T	c.(5821-5823)tCg>tTg	p.S1941L	COL6A3_uc002vwo.2_Missense_Mutation_p.S1735L|COL6A3_uc010znj.1_Missense_Mutation_p.S1334L	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1941	Nonhelical region.|VWFA 10.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCTGTCCGGCGAGGACTGTCT	0.552000														52			31		0	0	0.796494	0	0
LOC100506136	100506136	broad.mit.edu	37	7	96251918	96251918	+	RNA	SNP	A	G	G			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr7:96251918A>G	uc010lfm.2	-	4		c.628T>C								Homo sapiens uncharacterized LOC100506136 (LOC100506136), non-coding RNA.																		AGTATTGGCAATTCTCCCCGC	0.433000														31			11		0	0	0.361761	0	0
KIF4B	285643	broad.mit.edu	37	5	154393909	154393909	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr5:154393909C>T	uc010jih.1	+	0	650	c.490C>T	c.(490-492)Cgg>Tgg	p.R164W		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	164	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AATAAATATACGGGAGGATCC	0.393000														149			90		0	0	0.870114	0	0
PTEN	5728	broad.mit.edu	37	10	89624301	89624301	+	Missense_Mutation	SNP	G	T	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr10:89624301G>T	uc001kfb.3	+	0	1107	c.75G>T	c.(73-75)ttG>ttT	p.L25F	PTEN_uc021pvw.1_Non-coding_Transcript|KLLN_uc009xti.3_5'Flank	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	25	Phosphatase tensin-type.				T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(13)|p.D24Y(5)|p.D24G(4)|p.L25F(3)|p.D24E(2)|p.D24N(2)|p.D24fs*19(2)|p.D24fs*20(2)|p.L25fs*28(2)|p.D24_L25del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ACTTAGACTTGACCTGTATCC	0.458000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				28			38		1.30015e-28	1.42078e-28	0.804634	1	0
SF3B1	23451	broad.mit.edu	37	2	198267364	198267364	+	Missense_Mutation	SNP	T	A	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:198267364T>A	uc002uue.3	-	13	2041	c.1993A>T	c.(1993-1995)Att>Ttt	p.I665F		NM_012433	NP_036565	O75533	SF3B1_HUMAN	Homo sapiens splicing factor 3b, subunit 1, 155kDa (SF3B1), transcript variant 1, mRNA.	665					nuclear mRNA splicing, via spliceosome	U12-type spliceosomal complex|catalytic step 2 spliceosome|nuclear speck	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			ACAATCTTAATACCAGTGTGT	0.408000			Mis		myelodysplastic syndrome									68			13		0	0	0.435327	0	0
APEX2	27301	broad.mit.edu	37	X	55033742	55033742	+	Silent	SNP	G	T	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:55033742G>T	uc004dtz.3	+	5	1507	c.1431G>T	c.(1429-1431)gtG>gtT	p.V477V	APEX2_uc011mom.2_Silent_p.V306V	NM_014481	NP_055296	Q9UBZ4	APEX2_HUMAN	Homo sapiens APEX nuclease (apurinic/apyrimidinic endonuclease) 2 (APEX2), nuclear gene encoding mitochondrial protein, mRNA.	477					DNA recombination|DNA repair|cell cycle	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						AGCCATGTGTGATGCGTACTG	0.622000								Other BER factors						37			21		2.37509e-13	2.54303e-13	0.592651	1	0
NKRF	55922	broad.mit.edu	37	X	118724016	118724016	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:118724016T>C	uc022cdk.1	-	3	1639	c.1417A>G	c.(1417-1419)Aca>Gca	p.T473A	NKRF_uc004erq.3_Missense_Mutation_p.T458A|NKRF_uc004err.3_Missense_Mutation_p.T458A	NM_001173487	NP_060014	O15226	NKRF_HUMAN	Homo sapiens NFKB repressing factor (NKRF), transcript variant 1, mRNA.	458					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						AACTGAGCTGTGTCGTTCAGC	0.428000														138			52		0	0	0.870114	0	0
SPEF2	79925	broad.mit.edu	37	5	35646854	35646854	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr5:35646854G>A	uc003jjo.3	+	4	782	c.671G>A	c.(670-672)cGt>cAt	p.R224H	SPEF2_uc003jjn.1_Missense_Mutation_p.R224H|SPEF2_uc003jjq.4_Missense_Mutation_p.R224H	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	224					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCATCAAATCGTACTTTGAAA	0.333000														81			42		0	0	0.834066	0	0
PARP10	84875	broad.mit.edu	37	8	145057683	145057683	+	Missense_Mutation	SNP	G	A	A	rs146697146	byFrequency	TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr8:145057683G>A	uc003zal.4	-	7	2182	c.2074C>T	c.(2074-2076)Ccg>Tcg	p.P692S	PARP10_uc003zak.4_Missense_Mutation_p.P389S|PARP10_uc011lku.2_Missense_Mutation_p.P704S|PARP10_uc011lkv.2_Non-coding_Transcript|PARP10_uc003zam.2_Missense_Mutation_p.P683S	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 10 (PARP10), mRNA.	692	Glu-rich.					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCTCCAACGGGGGCTGCTCC	0.677000														23			6		0	0	0.217242	0	0
BC068609	0	broad.mit.edu	37	19	29215151	29215151	+	RNA	SNP	G	A	A	rs151046529	by1000genomes	TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr19:29215151G>A	uc002nsa.2	-	3		c.391C>T								Homo sapiens cDNA clone IMAGE:5297319, with apparent retained intron.																		CAGACTGTCCGCCATCCAGAT	0.443000														39			10		0	0	0.361761	0	0
TLX3	30012	broad.mit.edu	37	5	170738554	170738554	+	Missense_Mutation	SNP	C	A	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr5:170738554C>A	uc003mbf.3	+	2	909	c.827C>A	c.(826-828)cCc>cAc	p.P276H	AX746723_uc003mbe.1_5'Flank	NM_021025	NP_066305	O43711	TLX3_HUMAN	Homo sapiens T-cell leukemia homeobox 3 (TLX3), mRNA.	276						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AATCTGCAGCCCTGGGAGGAG	0.637000			T	BCL11B	T-ALL									15			11		4.3838e-07	4.55571e-07	0.435327	1	0
ADCY4	196883	broad.mit.edu	37	14	24793338	24793338	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr14:24793338C>T	uc001wow.3	-	15	2395	c.1976G>A	c.(1975-1977)cGa>cAa	p.R659Q	ADCY4_uc010toh.2_Missense_Mutation_p.R345Q|ADCY4_uc001wox.3_Missense_Mutation_p.R659Q|ADCY4_uc001woy.3_Missense_Mutation_p.R659Q	NM_001198568	NP_001185497	Q8NFM4	ADCY4_HUMAN	Homo sapiens adenylate cyclase 4 (ADCY4), transcript variant 3, mRNA.	659					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CAGTCCTGGTCGTGTGGCCAC	0.622000														46			18		0	0	0.557998	0	0
ZMAT1	84460	broad.mit.edu	37	X	101139070	101139070	+	Missense_Mutation	SNP	C	A	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:101139070C>A	uc011mrl.2	-	6	1679	c.1329G>T	c.(1327-1329)aaG>aaT	p.K443N	ZMAT1_uc004eim.3_Missense_Mutation_p.K272N|ZMAT1_uc004ein.3_Missense_Mutation_p.K272N|ZMAT1_uc011mrm.2_Missense_Mutation_p.K272N	NM_001011657	NP_001011657	A7MD47	A7MD47_HUMAN	Homo sapiens zinc finger, matrin-type 1 (ZMAT1), transcript variant 1, mRNA.	272						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						CACATGGGAGCTTTTGCTCCA	0.408000														204			112		1.12765e-66	1.24511e-66	0.870114	1	0
NLRP11	204801	broad.mit.edu	37	19	56321356	56321356	+	Missense_Mutation	SNP	C	G	G			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr19:56321356C>G	uc010ygf.2	-	4	1331	c.620G>C	c.(619-621)tGg>tCg	p.W207S	NLRP11_uc002qlz.3_Missense_Mutation_p.W108S|NLRP11_uc002qmb.3_Missense_Mutation_p.W108S|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.	207	NACHT.						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)		GCCGTCAGGCCAGTCCTTGGC	0.498000														66			44		0	0	0.859065	0	0
MYH13	8735	broad.mit.edu	37	17	10223518	10223518	+	Silent	SNP	G	A	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr17:10223518G>A	uc002gmk.1	-	25	3390	c.3300C>T	c.(3298-3300)gaC>gaT	p.D1100D	MYH13_uc010vve.1_3'UTR	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1100					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GGACTTGTTCGTCATCTATTT	0.388000														11			6		0	0	0.248553	0	0
FAM92A1P2	403315	broad.mit.edu	37	4	183959372	183959372	+	RNA	SNP	G	A	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr4:183959372G>A	uc003ivi.4	+	0		c.555G>A								Homo sapiens family with sequence similarity 92, member A3 (FAM92A3), non-coding RNA.																		TTTGAATTTCGACCTTTAAAA	0.468000														12			4		0	0	0.150653	0	0
EPC2	26122	broad.mit.edu	37	2	149528637	149528637	+	Silent	SNP	A	G	G			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:149528637A>G	uc010zbt.2	+	9	1428	c.1401A>G	c.(1399-1401)acA>acG	p.T467T		NM_015630	NP_056445	Q52LR7	EPC2_HUMAN	Homo sapiens enhancer of polycomb homolog 2 (Drosophila) (EPC2), mRNA.	467					DNA repair|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		GAATATCCACAGAACATGACC	0.383000														22			18		0	0	0.520397	0	0
ERBB4	2066	broad.mit.edu	37	2	212288907	212288907	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:212288907T>C	uc002veg.1	-	22	2937	c.2839A>G	c.(2839-2841)Att>Gtt	p.I947V	ERBB4_uc002veh.1_Missense_Mutation_p.I947V|ERBB4_uc010zji.1_Missense_Mutation_p.I937V|ERBB4_uc010zjj.1_Missense_Mutation_p.I937V	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	947	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TAAACGTCAATAGTGCAGATG	0.393000										TSP Lung(8;0.080)				81			58		0	0	0.870114	0	0
MAP2	4133	broad.mit.edu	37	2	210558554	210558554	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:210558554A>G	uc002vde.1	+	6	1908	c.1660A>G	c.(1660-1662)Aca>Gca	p.T554A	MAP2_uc002vdc.1_Missense_Mutation_p.T554A|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.T550A	NM_002374	NP_002365	P11137	MAP2_HUMAN	Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA.	554					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TGGAGCTGCAACATCAGCTGA	0.368000														142			5		0	0	0.248553	0	0
GZMK	3003	broad.mit.edu	37	5	54329739	54329739	+	Silent	SNP	G	A	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr5:54329739G>A	uc003jpl.1	+	4	824	c.780G>A	c.(778-780)ccG>ccA	p.P260P		NM_002104	NP_002095	P49863	GRAK_HUMAN	Homo sapiens granzyme K (granzyme 3; tryptase II) (GZMK), mRNA.	260					proteolysis	extracellular region	serine-type endopeptidase activity	p.P260P(2)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				ACCTTGTCCCGCCTCATACAA	0.408000														47			17		0	0	0.520397	0	0
KIAA0232	9778	broad.mit.edu	37	4	6865324	6865324	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr4:6865324C>T	uc003gjr.4	+	6	3678	c.3215C>T	c.(3214-3216)cCg>cTg	p.P1072L	KIAA0232_uc003gjq.4_Missense_Mutation_p.P1072L	NM_014743	NP_055558	Q92628	K0232_HUMAN	Homo sapiens KIAA0232 (KIAA0232), transcript variant 1, mRNA.	1072							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						AGTTTTAAACCGAAATCAATC	0.418000														100			38		0	0	0.796494	0	0
AKAP17A	8227	broad.mit.edu	37	X	1720261	1720261	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:1720261G>A	uc004cqa.3	+	4	2058	c.1862G>A	c.(1861-1863)cGg>cAg	p.R621Q	AKAP17A_uc004cqb.3_Non-coding_Transcript|ASMT_uc004cqd.3_Intron	NM_005088	NP_005079	Q02040	AK17A_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 17A (AKAP17A), transcript variant 1, mRNA.	621	Arg-rich.				B cell activation|RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|signal transduction	nuclear speck|spliceosomal complex	RNA binding|nucleotide binding|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						CGCAAGGAGCGGCGGCCCCAC	0.731000														18			4		0	0	0.150653	0	0
MUC6	4588	broad.mit.edu	37	11	1026378	1026378	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr11:1026378G>A	uc001lsw.2	-	19	2546	c.2495C>T	c.(2494-2496)tCg>tTg	p.S832L		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	832					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGAGACCCCCGAGAACTCACA	0.652000														22			17		0	0	0.500413	0	0
WSCD2	9671	broad.mit.edu	37	12	108589925	108589925	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr12:108589925G>A	uc001tms.3	+	1	1060	c.316G>A	c.(316-318)Gac>Aac	p.D106N	WSCD2_uc001tmt.3_Missense_Mutation_p.D106N	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	Homo sapiens WSC domain containing 2 (WSCD2), mRNA.	106						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						CAAGCTTGGCGACTACGGTGG	0.607000														54			31		0	0	0.740014	0	0
ZMYM3	9203	broad.mit.edu	37	X	70464671	70464671	+	Missense_Mutation	SNP	G	C	C			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:70464671G>C	uc004dzh.2	-	18	3259	c.3080C>G	c.(3079-3081)aCt>aGt	p.T1027S	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.2_Missense_Mutation_p.T1027S|ZMYM3_uc004dzj.2_Missense_Mutation_p.T1015S	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	Homo sapiens zinc finger, MYM-type 3 (ZMYM3), transcript variant 1, mRNA.	1027					multicellular organismal development	nucleus	DNA binding|zinc ion binding	p.T1027fs*9(2)		breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					GTCTTGTTCAGTAGACACATC	0.478000														27			8		0	0	0.278610	0	0
GPR98	84059	broad.mit.edu	37	5	89954001	89954001	+	Missense_Mutation	SNP	G	C	C			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr5:89954001G>C	uc003kju.3	+	20	4754	c.4658G>C	c.(4657-4659)cGt>cCt	p.R1553P	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1553					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGAGGAGCTCGTATTTCGGAA	0.348000														83			37		0	0	0.804634	0	0
IQCA1	79781	broad.mit.edu	37	2	237308067	237308067	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:237308067T>C	uc002vwb.2	-	8	1254	c.1220A>G	c.(1219-1221)aAc>aGc	p.N407S	IQCA1_uc002vvz.1_Missense_Mutation_p.N400S|IQCA1_uc002vwa.1_Non-coding_Transcript|IQCA1_uc010zni.1_Missense_Mutation_p.N359S	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN	Homo sapiens IQ motif containing with AAA domain 1 (IQCA1), mRNA.	400	Lys-rich.						ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TTTGTATGCGTTACATCCTTC	0.463000														109			5		0	0	0.184627	0	0
FAM86EP	348926	broad.mit.edu	37	4	3952918	3952918	+	RNA	SNP	T	G	G			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr4:3952918T>G	uc011bvu.2	-	2		c.190A>C			FAM86EP_uc003ghn.3_Intron					Homo sapiens family with sequence similarity 86, member E, pseudogene (FAM86EP), non-coding RNA.																		TGACGGCGGGTGCTTCACACA	0.522000														47			4		0	0	0.307466	0	0
RNASEH2A	10535	broad.mit.edu	37	19	12920991	12920991	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr19:12920991C>T	uc002mvg.1	+	4	578	c.518C>T	c.(517-519)cCg>cTg	p.P173L		NM_006397	NP_006388	O75792	RNH2A_HUMAN	Homo sapiens ribonuclease H2, subunit A (RNASEH2A), mRNA.	173					DNA replication|RNA catabolic process	nucleus|ribonuclease H2 complex	RNA binding|metal ion binding|ribonuclease H activity			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	14						GCCCTCTACCCGGTGGTTAGT	0.582000														112			35		0	0	0.760397	0	0
MYH13	8735	broad.mit.edu	37	17	10258008	10258008	+	Silent	SNP	G	A	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr17:10258008G>A	uc002gmk.1	-	10	1084	c.994C>T	c.(994-996)Ctg>Ttg	p.L332L		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	332	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCTGTCGCCAGCAGTTCTTCA	0.463000														51			18		0	0	0.557998	0	0
RGPD5	84220	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	C	C			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:113127775G>C	uc002ths.2	-	22	5470	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD5_uc010fkk.2_Missense_Mutation_p.P1620A	NM_005054	NP_001157935	Q99666	RGPD5_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 5 (RGPD5), transcript variant 1, mRNA.	1760					intracellular transport	cytoplasm	binding	p.P1760A(12)		central_nervous_system(1)	1						GAACGGGAAGGATTTTCTTCC	0.308000														48			4		0	0	0.150653	0	0
C8A	731	broad.mit.edu	37	1	57378109	57378109	+	Missense_Mutation	SNP	A	T	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr1:57378109A>T	uc001cyo.2	+	9	1546	c.1414A>T	c.(1414-1416)Agc>Tgc	p.S472C		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	472	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GCGGCACACAAGCCTGGGGCC	0.602000														70			36		0	0	0.804634	0	0
ATP1A2	477	broad.mit.edu	37	1	160099056	160099056	+	Splice_Site	SNP	C	T	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr1:160099056C>T	uc001fvc.3	+	11	1459	c.1327_splice	c.e11-1	p.R443_splice	ATP1A2_uc001fvb.2_Splice_Site_p.R443_splice|ATP1A2_uc001fvd.3_Splice_Site_p.R179_splice|ATP1A2_uc009wtg.1_Splice_Site_p.R131_splice	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	443					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CTTCTGGCAGCGGGACACAGC	0.557000														163			84		0	0	0.870114	0	0
PLOD1	5351	broad.mit.edu	37	1	12024322	12024322	+	Silent	SNP	C	T	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr1:12024322C>T	uc010obb.2	+	12	1547	c.1434C>T	c.(1432-1434)tcC>tcT	p.S478S	PLOD1_uc001atm.3_Silent_p.S431S	NM_000302	NP_000293	Q02809	PLOD1_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 (PLOD1), mRNA.	431					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	ATGCCCGTTCCGAGGACTACG	0.627000														213			8		0	0	0.278610	0	0
BCORL1	63035	broad.mit.edu	37	X	129147463	129147463	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:129147463G>A	uc022cdu.1	+	2	759	c.715G>A	c.(715-717)Gtc>Atc	p.V239I	BCORL1_uc010nrd.1_Missense_Mutation_p.V141I	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	239	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.P238P(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GCTTGTTCCAGTCCAAGTTGC	0.637000														163			92		0	0	0.870114	0	0
ZNF683	257101	broad.mit.edu	37	1	26691676	26691676	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr1:26691676T>C	uc001bmg.1	-	3	479	c.361A>G	c.(361-363)Aag>Gag	p.K121E	ZNF683_uc001bmh.1_Missense_Mutation_p.K121E|ZNF683_uc009vsj.1_Missense_Mutation_p.K121E	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN	Homo sapiens zinc finger protein 683 (ZNF683), transcript variant 2, mRNA.	121					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		GTGAATTTCTTGTCATCGGTG	0.577000														9			4		0	0	0.184627	0	0
MKNK2	2872	broad.mit.edu	37	19	2043519	2043519	+	Silent	SNP	G	A	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr19:2043519G>A	uc002lus.2	-	5	647	c.402C>T	c.(400-402)taC>taT	p.Y134Y	MKNK2_uc002luq.1_5'Flank|MKNK2_uc010xgu.1_5'UTR|MKNK2_uc010xgv.1_Silent_p.Y3Y|MKNK2_uc002lur.2_Silent_p.Y134Y|MKNK2_uc002lut.1_5'Flank	NM_199054	NP_951009	Q9HBH9	MKNK2_HUMAN	Homo sapiens MAP kinase interacting serine/threonine kinase 2 (MKNK2), transcript variant 2, mRNA.	134	Protein kinase.				cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGGCACTGGTACAGCATCT	0.587000														59			19		0	0	0.592651	0	0
FLG2	388698	broad.mit.edu	37	1	152327811	152327811	+	Silent	SNP	G	A	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr1:152327811G>A	uc001ezw.4	-	2	2524	c.2451C>T	c.(2449-2451)tcC>tcT	p.S817S	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	817	Ser-rich.						calcium ion binding|structural molecule activity	p.S817S(2)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAAAGCCAGCGGACTGACCTG	0.522000														364			197		0	0	0.870114	0	0
PML	5371	broad.mit.edu	37	15	74315324	74315324	+	Missense_Mutation	SNP	C	A	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr15:74315324C>A	uc002awv.3	+	2	898	c.758C>A	c.(757-759)gCc>gAc	p.A253D	PML_uc002awj.1_Missense_Mutation_p.A253D|PML_uc002awm.3_Missense_Mutation_p.A253D|PML_uc002awl.3_Missense_Mutation_p.A253D|PML_uc002awk.3_Missense_Mutation_p.A253D|PML_uc002awn.3_Missense_Mutation_p.A253D|PML_uc002awo.3_Missense_Mutation_p.A253D|PML_uc002awp.3_Missense_Mutation_p.A253D|PML_uc002awq.3_Missense_Mutation_p.A253D|PML_uc002awr.3_Missense_Mutation_p.A253D|PML_uc002aws.3_Missense_Mutation_p.A253D|PML_uc002awt.3_Missense_Mutation_p.A253D|PML_uc002awu.3_Missense_Mutation_p.A253D|PML_uc010ule.2_Intron|PML_uc002aww.1_Missense_Mutation_p.A168D|PML_uc002awx.3_Missense_Mutation_p.A11D|PML_uc002awy.3_5'Flank	NM_033238	NP_150241	P29590	PML_HUMAN	Homo sapiens promyelocytic leukemia (PML), transcript variant 1, mRNA.	253					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|PML body organization|cell cycle arrest|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	PML body|cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus	DNA binding|SUMO binding|cobalt ion binding|protein binding|protein heterodimerization activity|protein homodimerization activity|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						CAGGATAGTGCCTTTGGCGCG	0.687000			T	"""RARA, PAX5"""	"""APL, ALL"""									20			13		4.3838e-07	4.55571e-07	0.435327	1	0
RPF1	80135	broad.mit.edu	37	1	84961976	84961976	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr1:84961976C>T	uc001djv.4	+	7	976	c.931C>T	c.(931-933)Cgt>Tgt	p.R311C		NM_025065	NP_079341	Q9H9Y2	RPF1_HUMAN	Homo sapiens ribosome production factor 1 homolog (S. cerevisiae) (RPF1), mRNA.	311	Brix.|RNA-binding (By similarity).				rRNA processing|translation	nucleolus	ATP binding|aminoacyl-tRNA ligase activity|rRNA binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						ACTTGGACCACGTTTTACCTT	0.328000														40			34		0	0	0.760397	0	0
GABRA4	2557	broad.mit.edu	37	4	46995377	46995377	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr4:46995377C>T	uc003gxg.3	-	0	1048	c.65G>A	c.(64-66)cGc>cAc	p.R22H	GABRA4_uc021xnz.1_Intron|GABRA4_uc021xoa.1_Intron	NM_000809	NP_000800	P48169	GBRA4_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA.	22					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GCACAGGAAGCGCAGGAGGGC	0.592000														85			51		0	0	0.870114	0	0
IGSF1	3547	broad.mit.edu	37	X	130415782	130415782	+	Missense_Mutation	SNP	T	G	G			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:130415782T>G	uc004ewe.4	-	7	1666	c.1383A>C	c.(1381-1383)caA>caC	p.Q461H	IGSF1_uc004ewd.3_Missense_Mutation_p.Q461H|IGSF1_uc022cdv.1_Missense_Mutation_p.Q452H|IGSF1_uc004ewf.2_Missense_Mutation_p.Q441H	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	461	Ig-like C2-type 5.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CTGAGAATTTTTGGAATGTTT	0.453000														51			41		0	0	0.819951	0	0
MYH11	4629	broad.mit.edu	37	16	15820786	15820786	+	Silent	SNP	C	T	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr16:15820786C>T	uc002ddx.3	-	28	3905	c.3798G>A	c.(3796-3798)gcG>gcA	p.A1266A	MYH11_uc002ddv.3_Silent_p.A1266A|MYH11_uc002ddw.3_Silent_p.A1259A|MYH11_uc002ddy.3_Silent_p.A1259A|MYH11_uc010bvg.3_Silent_p.A1091A|MYH11_uc010bvh.3_5'Flank	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	1259					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CCTGCACCTGCGCCTCCAGCT	0.642000			T	CBFB	AML									202			110		0	0	0.870114	0	0
PGM5	5239	broad.mit.edu	37	9	70993121	70993121	+	Nonsense_Mutation	SNP	C	T	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr9:70993121C>T	uc004agr.3	+	1	497	c.268C>T	c.(268-270)Cga>Tga	p.R90*		NM_021965	NP_068800	Q15124	PGM5_HUMAN	Homo sapiens phosphoglucomutase 5 (PGM5), mRNA.	90					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	Z disc|costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						TTAGATTGGACGACTGATTAT	0.443000														56			20		0	0	0.667858	0	0
LNX1	84708	broad.mit.edu	37	4	54327127	54327127	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr4:54327127G>A	uc003hag.4	-	10	2390	c.2134C>T	c.(2134-2136)Ctt>Ttt	p.L712F	PDGFRA_uc003haa.3_Intron|LNX1_uc003haf.4_Missense_Mutation_p.L616F|LNX1_uc003hah.4_Non-coding_Transcript	NM_001126328	NP_001119800	Q8TBB1	LNX1_HUMAN	Homo sapiens ligand of numb-protein X 1 (LNX1), transcript variant 1, mRNA.	712	PDZ 4.					cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CTTCCTTTAAGTTCTTTCAGC	0.343000														54			33		0	0	0.750413	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33683148	33683148	+	Missense_Mutation	SNP	C	T	T	rs61754760		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr5:33683148C>T	uc003jia.1	-	4	1053	c.890G>A	c.(889-891)cGg>cAg	p.R297Q	ADAMTS12_uc010iuq.1_Missense_Mutation_p.R297Q	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	297	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TAGAATGAGCCGAACCACAAC	0.433000										HNSCC(64;0.19)				49			21		0	0	0.592651	0	0
ASB7	140460	broad.mit.edu	37	15	101170214	101170214	+	Nonsense_Mutation	SNP	C	T	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr15:101170214C>T	uc002bwk.3	+	4	1553	c.784C>T	c.(784-786)Cga>Tga	p.R262*	ASB7_uc002bwj.3_Nonsense_Mutation_p.R262*	NM_198243	NP_937886	Q9H672	ASB7_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 7 (ASB7), transcript variant 2, mRNA.	262					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)	16	Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)			TGGAAGTAGTCGACCATGTTT	0.358000														46			30		0	0	0.717897	0	0
IGSF1	3547	broad.mit.edu	37	X	130413285	130413285	+	Silent	SNP	C	T	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:130413285C>T	uc004ewe.4	-	9	1960	c.1677G>A	c.(1675-1677)ggG>ggA	p.G559G	IGSF1_uc004ewd.3_Silent_p.G559G|IGSF1_uc022cdv.1_Silent_p.G550G|IGSF1_uc004ewf.2_Silent_p.G539G	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	559					regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GCATGGTGACCCCTTGAGCTG	0.617000														56			25		0	0	0.693898	0	0
RPS4X	6191	broad.mit.edu	37	X	71493768	71493768	+	Missense_Mutation	SNP	G	T	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:71493768G>T	uc004ear.3	-	4	511	c.415C>A	c.(415-417)Ctg>Atg	p.L139M		NM_001007	NP_000998	P62701	RS4X_HUMAN	Homo sapiens ribosomal protein S4, X-linked (RPS4X), mRNA.	139					endocrine pancreas development|positive regulation of cell proliferation|positive regulation of translation|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|polysome	rRNA binding|structural constituent of ribosome			NS(1)|large_intestine(1)	2	Renal(35;0.156)					TGAGTCACCAGATGAGGGATT	0.438000														48			24		1.96895e-08	2.08708e-08	0.639603	1	0
IFT140	9742	broad.mit.edu	37	16	1568282	1568282	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr16:1568282T>C	uc002cmb.3	-	29	4479	c.4117A>G	c.(4117-4119)Atc>Gtc	p.I1373V	IFT140_uc002clz.3_Missense_Mutation_p.I986V	NM_014714	NP_055529	Q96RY7	IF140_HUMAN	Homo sapiens intraflagellar transport 140 homolog (Chlamydomonas) (IFT140), mRNA.	1373										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CCGATGCGGATGGTGCTGTCC	0.602000														37			20		0	0	0.557998	0	0
GOLGA2	2801	broad.mit.edu	37	9	131019389	131019390	+	Frame_Shift_Ins	INS	-	A	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr9:131019389_131019390insA	uc011maw.2	-	25	2978_2979	c.2965_2966insT	c.(2965-2967)tacfs	p.Y989fs	GOLGA2_uc010mxw.3_Frame_Shift_Ins_p.Y312fs|GOLGA2_uc004buh.3_Frame_Shift_Ins_p.Y339fs|DQ583972_uc022boe.1_5'Flank	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Homo sapiens golgin A2 (GOLGA2), mRNA.	989						Golgi cisterna membrane	protein binding	p.Y977fs*9(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						GTCAGCCCGGTAAAAAAAAGGA	0.564													---	221	---	---	7	---					
MYH13	8735	broad.mit.edu	37	17	10248554	10248554	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr17:10248554delT	uc002gmk.1	-	14	1639	c.1549delA	c.(1549-1551)atgfs	p.M517fs	MYH13_uc010vvf.1_Frame_Shift_Del_p.M192fs	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	517	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GCCAGGTCCATTCCGAAGTCA	0.522													---	181	---	---	13	---					
