Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ALPP	250	broad.mit.edu	37	2	233246432	233246432	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr2:233246432G>C	uc002vsq.3	+	10	1700	c.1535G>C	c.(1534-1536)cGg>cCg	p.R512P		NM_001632	NP_001623	P05187	PPB1_HUMAN	Homo sapiens alkaline phosphatase, placental (ALPP), mRNA.	512						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CACCCGGGGCGGTCCGTGGTC	0.731000													3	8					0	0	1	0	0
XKR4	114786	broad.mit.edu	37	8	56436598	56436598	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr8:56436598C>T	uc003xsf.3	+	2	1797	c.1765C>T	c.(1765-1767)Cgg>Tgg	p.R589W		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA.	589						integral to membrane		p.R589R(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TCGCCCACCACGGATTGAAGA	0.512000													30	75					0	0	1	0	0
LSR	51599	broad.mit.edu	37	19	35757262	35757262	+	Splice_Site	SNP	T	T	C			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr19:35757262T>C	uc002nyl.3	+	6	1146	c.923_splice	c.e6-1	p.L308_splice	LSR_uc010xsr.2_Splice_Site_p.M200_splice|LSR_uc002nym.3_Splice_Site_p.L289_splice|LSR_uc002nyn.3_Splice_Site_p.V240_splice|LSR_uc002nyo.3_Splice_Site_p.L289_splice|LSR_uc002nyp.3_Splice_Site_p.L271_splice|USF2_uc010xss.1_5'Flank|USF2_uc002nyq.1_5'Flank|USF2_uc002nyr.1_5'Flank|USF2_uc002nyt.1_5'Flank	NM_205834	NP_991403	Q86X29	LSR_HUMAN	Homo sapiens lipolysis stimulated lipoprotein receptor (LSR), transcript variant 2, mRNA.	308				L -> R (in Ref. 3; AAB51178).	embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GTCCTCACAGTGTATGCCGCC	0.632000													29	100					0	0	1	0	0
ALDH1A3	220	broad.mit.edu	37	15	101425525	101425525	+	Silent	SNP	A	A	C			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr15:101425525A>C	uc002bwn.4	+	1	257	c.153A>C	c.(151-153)acA>acC	p.T51T	ALDH1A3_uc010bpb.3_Silent_p.T51T	NM_000693	NP_000684	P47895	AL1A3_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A3 (ALDH1A3), mRNA.	51					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	AGTTTGCTACATGTAACCCTT	0.343000													3	65					0	0	1	0	0
TRIM4	89122	broad.mit.edu	37	7	99506411	99506411	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr7:99506411T>C	uc003usd.3	-	3	791	c.592A>G	c.(592-594)Aga>Gga	p.R198G	TRIM4_uc003use.3_Missense_Mutation_p.R172G|TRIM4_uc011kjc.2_Missense_Mutation_p.R28G|TRIM4_uc003usf.3_Missense_Mutation_p.R172G	NM_033017	NP_148977	Q9C037	TRIM4_HUMAN	Homo sapiens tripartite motif containing 4 (TRIM4), transcript variant alpha, mRNA.	198					protein trimerization	cytoplasm|plasma membrane	zinc ion binding	p.R198I(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				GTGCTGATTCTCATTCGCTGA	0.428000													32	93					0	0	1	0	0
RPAP2	79871	broad.mit.edu	37	1	92789789	92789789	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr1:92789789G>C	uc001dot.2	+	7	1421	c.1312G>C	c.(1312-1314)Ggc>Cgc	p.G438R	RPAP2_uc009wdh.2_Non-coding_Transcript	NM_024813	NP_079089	Q8IXW5	RPAP2_HUMAN	Homo sapiens RNA polymerase II associated protein 2 (RPAP2), mRNA.	438						integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		ACCTTTTAGGGGCTCAGGTAC	0.413000													23	74					0	0	1	0	0
FOXJ2	55810	broad.mit.edu	37	12	8197495	8197495	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr12:8197495G>C	uc001qtu.3	+	5	1843	c.758G>C	c.(757-759)tGg>tCg	p.W253S	FOXJ2_uc001qtt.1_Missense_Mutation_p.W253S	NM_018416	NP_060886	Q9P0K8	FOXJ2_HUMAN	Homo sapiens forkhead box J2 (FOXJ2), mRNA.	253					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		GATCTAAGCTGGTCCTTCCGC	0.502000													40	156					0	0	1	0	0
ZNF784	147808	broad.mit.edu	37	19	56133798	56133798	+	Silent	SNP	A	A	C			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr19:56133798A>C	uc002qll.1	-	1	305	c.291T>G	c.(289-291)ggT>ggG	p.G97G	ZNF784_uc010etb.1_Non-coding_Transcript	NM_203374	NP_976308	Q8NCA9	ZN784_HUMAN	Homo sapiens zinc finger protein 784 (ZNF784), mRNA.	97					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)	1			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		TCGGGTCCCCACCCTGCCCGC	0.711000													4	16					0	0	1	0	0
MED8	112950	broad.mit.edu	37	1	43852653	43852653	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr1:43852653C>T	uc001cje.1	-	3	335	c.287G>A	c.(286-288)cGg>cAg	p.R96Q	SZT2_uc001cjk.2_5'Flank|MED8_uc001cjg.4_Missense_Mutation_p.R96Q|MED8_uc001cjf.4_Missense_Mutation_p.R7Q|SZT2_uc001cjh.3_5'Flank|SZT2_uc001cji.1_5'Flank|SZT2_uc009vws.1_5'Flank	NM_052877	NP_443109	Q96G25	MED8_HUMAN	Homo sapiens mediator complex subunit 8 (MED8), transcript variant 3, mRNA.	96					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.R7L(1)|p.R96L(1)		endometrium(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	9	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AACAGGCACCCGTCCTTCAGT	0.498000													6	128					0	0	1	0	0
CST5	1473	broad.mit.edu	37	20	23860160	23860160	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr20:23860160T>C	uc002wtr.1	-	0	221	c.154A>G	c.(154-156)Atc>Gtc	p.I52V		NM_001900	NP_001891	P28325	CYTD_HUMAN	Homo sapiens cystatin D (CST5), mRNA.	52						extracellular region	cysteine-type endopeptidase inhibitor activity|protein binding	p.I52N(1)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						TACTCGCTGATGGCAAAGTCC	0.582000													8	244					0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	117969491	117969491	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr12:117969491T>G	uc001two.2	-	10	1677	c.1622A>C	c.(1621-1623)aAg>aCg	p.K541T		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	570	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAACTGCTGCTTGTATTTGTA	0.502000													3	48					0	0	1	0	0
ZNF532	55205	broad.mit.edu	37	18	56585911	56585911	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr18:56585911C>T	uc010xeg.2	+	2	589	c.392C>T	c.(391-393)cCg>cTg	p.P131L	ZNF532_uc002lhp.3_Missense_Mutation_p.P129L|ZNF532_uc002lho.3_Missense_Mutation_p.P131L|ZNF532_uc002lhr.3_Missense_Mutation_p.P129L|ZNF532_uc002lhs.3_Missense_Mutation_p.P129L	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	Homo sapiens zinc finger protein 532 (ZNF532), mRNA.	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						CAGTTTAGCCCGATCTCCAGT	0.498000													24	60					0	0	1	0	0
KLK6	5653	broad.mit.edu	37	19	51466672	51466672	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr19:51466672G>A	uc002puh.3	-	2	423	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C	KLK6_uc010eoj.3_Intron|KLK6_uc002pui.3_Missense_Mutation_p.R111C|KLK6_uc002puj.3_Missense_Mutation_p.R4C|KLK6_uc010ycn.2_Missense_Mutation_p.R4C|KLK6_uc002pul.3_Missense_Mutation_p.R111C|KLK6_uc002pum.3_Missense_Mutation_p.R4C	NM_001012965	NP_001012983	Q92876	KLK6_HUMAN	Homo sapiens kallikrein-related peptidase 6 (KLK6), transcript variant C, mRNA.	111	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity	p.R111C(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		CGTGCCAGGCGCAACAGCATG	0.612000													4	53					0	0	1	0	0
HCAR2	338442	broad.mit.edu	37	12	123186916	123186916	+	Silent	SNP	G	G	A			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr12:123186916G>A	uc001ucx.1	-	0	989	c.915C>T	c.(913-915)ttC>ttT	p.F305F	HCAR1_uc001ucw.1_Intron	NM_177551	NP_808219	Q8TDS4	HCAR2_HUMAN	Homo sapiens hydroxycarboxylic acid receptor 2 (HCAR2), mRNA.	305					negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Mepenzolate(DB04843)|Niacin(DB00627)	TCAAAGTGGAGAAGAAGTTGG	0.532000													17	61					0	0	1	0	0
PPIG	9360	broad.mit.edu	37	2	170493058	170493058	+	Silent	SNP	A	A	G			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr2:170493058A>G	uc002uez.3	+	13	1510	c.1290A>G	c.(1288-1290)aaA>aaG	p.K430K	PPIG_uc010fpx.3_Silent_p.K415K|PPIG_uc010fpy.3_Silent_p.K423K|PPIG_uc002ufb.3_Silent_p.K430K|PPIG_uc002ufd.3_Silent_p.K427K	NM_004792	NP_004783	Q13427	PPIG_HUMAN	Homo sapiens peptidylprolyl isomerase G (cyclophilin G) (PPIG), mRNA.	430					RNA splicing|protein folding	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	AAGACCATAAATCTAACAGCA	0.328000													11	32					0	0	1	0	0
EPB41L2	2037	broad.mit.edu	37	6	131216167	131216167	+	Silent	SNP	C	C	T			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr6:131216167C>T	uc003qch.2	-	8	1511	c.1329G>A	c.(1327-1329)ccG>ccA	p.P443P	EPB41L2_uc010kfl.2_Silent_p.P443P|EPB41L2_uc003qcg.1_Silent_p.P443P|EPB41L2_uc003qci.3_Silent_p.P443P|EPB41L2_uc011eby.2_Silent_p.P443P|EPB41L2_uc010kfk.2_Silent_p.P443P	NM_001431	NP_001422	O43491	E41L2_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 2 (EPB41L2), transcript variant 1, mRNA.	443	FERM.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TTAAGATTTTCGGCCAAGCAA	0.433000													24	69					0	0	1	0	0
CNGA1	1259	broad.mit.edu	37	4	47938768	47938768	+	Silent	SNP	G	G	C			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr4:47938768G>C	uc003gxu.3	-	9	2091	c.1950C>G	c.(1948-1950)ctC>ctG	p.L650L	BC041434_uc003gxr.1_Intron|CNGA1_uc003gxt.4_Silent_p.L581L	NM_001142564	NP_000078	P29973	CNGA1_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 1 (CNGA1), transcript variant 1, mRNA.	581					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						GAGCTTCCATGAGGTCATCTT	0.408000													56	161					0	0	1	0	0
UBTF	7343	broad.mit.edu	37	17	42287082	42287082	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr17:42287082C>A	uc010czs.3	-	15	1942	c.1646G>T	c.(1645-1647)cGg>cTg	p.R549L	UBTF_uc002igc.3_Missense_Mutation_p.R512L|UBTF_uc002igd.3_Missense_Mutation_p.R512L|UBTF_uc010czt.3_Missense_Mutation_p.R549L|UBTF_uc002ige.2_Missense_Mutation_p.R512L	NM_014233	NP_055048	P17480	UBF1_HUMAN	Homo sapiens upstream binding transcription factor, RNA polymerase I (UBTF), transcript variant 1, mRNA.	549					positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TGGAGGTGCCCGCATCTCACT	0.567000													3	33					0	0	1	0	0
HTRA3	94031	broad.mit.edu	37	4	8307709	8307709	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr4:8307709A>G	uc003gla.3	+	8	1415	c.1208A>G	c.(1207-1209)cAa>cGa	p.Q403R		NM_053044	NP_444272	P83110	HTRA3_HUMAN	Homo sapiens HtrA serine peptidase 3 (HTRA3), mRNA.	403	PDZ.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						GGCGGCATCCAAGATGGTGAC	0.647000													5	99					0	0	1	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25161438	25161438	+	RNA	SNP	T	T	A	rs3869320	by1000genomes	TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr13:25161438T>A	uc001upm.3	+	7		c.962T>A			TPTE2P6_uc001upn.3_Non-coding_Transcript|TPTE2P6_uc001upo.3_Non-coding_Transcript					Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 6 (TPTE2P6), non-coding RNA.																		CTCTTTATAATAAGATTCATT	0.378000													6	38					0	0	1	0	0
CA3	761	broad.mit.edu	37	8	86352079	86352079	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr8:86352079C>A	uc003ydj.3	+	1	256	c.173C>A	c.(172-174)aCc>aAc	p.T58N	CA13_uc003ydf.1_Non-coding_Transcript|CA3_uc011lfv.2_Non-coding_Transcript	NM_005181	NP_005172	P07451	CAH3_HUMAN	Homo sapiens carbonic anhydrase III, muscle specific (CA3), mRNA.	58					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						TCTGCCAAGACCATCCTGAAT	0.453000													5	73					0	0	1	0	0
UBD	10537	broad.mit.edu	37	6	29523919	29523919	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr6:29523919T>C	uc003nmo.3	-	1	460	c.236A>G	c.(235-237)aAa>aGa	p.K79R	GABBR1_uc003nmp.4_3'UTR	NM_006398	NP_006389	O15205	UBD_HUMAN	Homo sapiens ubiquitin D (UBD), mRNA.	79	Ubiquitin 1.				aggresome assembly|myeloid dendritic cell differentiation|negative regulation of mitotic prometaphase|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of apoptosis|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	aggresome|cytoplasm|nucleus	proteasome binding			kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						CTTCACCACTTTCAGGGTAAG	0.527000													13	41					0	0	1	0	0
AR	367	broad.mit.edu	37	X	66765386	66765386	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chrX:66765386C>A	uc004dwu.2	+	0	1513	c.398C>A	c.(397-399)cCa>cAa	p.P133Q	AR_uc011mpd.2_Missense_Mutation_p.P133Q|AR_uc011mpe.1_Non-coding_Transcript|AR_uc011mpf.1_Missense_Mutation_p.P133Q|AR_uc022byj.1_Non-coding_Transcript|AR_uc022byk.1_Missense_Mutation_p.P133Q	NM_000044	NP_000035	P10275	ANDR_HUMAN	Homo sapiens androgen receptor (AR), transcript variant 1, mRNA.	131	Modulating.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	GGTTGCGTCCCAGAGCCTGGA	0.672000									Androgen Insensitivity Syndrome				3	10					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119109476	119109476	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr9:119109476G>T	uc004bjn.3	+	14	4333	c.3952G>T	c.(3952-3954)Gca>Tca	p.A1318S	PAPPA_uc011lxq.2_Missense_Mutation_p.A693S	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	1318	Sushi 2.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CCGTCACCCTGCACAATTGAA	0.537000													5	59					0	0	1	0	0
NTM	50863	broad.mit.edu	37	11	132177583	132177583	+	Splice_Site	SNP	C	C	T			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr11:132177583C>T	uc010sci.2	+	5	858	c.527_splice	c.e5-1	p.A176_splice	NTM_uc001qgm.3_Splice_Site_p.A176_splice|NTM_uc010sch.2_Splice_Site_p.A167_splice|NTM_uc010scj.2_Splice_Site_p.A135_splice|NTM_uc001qgo.3_Splice_Site_p.A176_splice|NTM_uc001qgq.3_Splice_Site_p.A176_splice|NTM_uc001qgp.3_Splice_Site_p.A176_splice	NM_001144058	NP_001137530	Q9P121	NTRI_HUMAN	Homo sapiens neurotrimin (NTM), transcript variant 3, mRNA.	176	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						TTTCCCGCAGCGGTTGGCTTT	0.463000													10	58					0	0	1	0	0
CLEC4A	50856	broad.mit.edu	37	12	8290795	8290795	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr12:8290795G>A	uc001qtz.1	+	5	873	c.626G>A	c.(625-627)cGt>cAt	p.R209H	CLEC4A_uc009zga.1_Missense_Mutation_p.R170H|CLEC4A_uc001qub.1_Missense_Mutation_p.R176H|CLEC4A_uc001quc.1_Missense_Mutation_p.R137H|CLEC4A_uc009zgb.1_3'UTR	NM_016184	NP_057268	Q9UMR7	CLC4A_HUMAN	Homo sapiens C-type lectin domain family 4, member A (CLEC4A), transcript variant 1, mRNA.	209	C-type lectin.				cell adhesion|cell surface receptor linked signaling pathway|innate immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11				Kidney(36;0.0915)		CTAAATTTTCGTAAATCACCC	0.433000													7	99					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62903460	62903460	+	Silent	SNP	G	G	A			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr4:62903460G>A	uc010ihh.3	+	20	3572	c.3399G>A	c.(3397-3399)gaG>gaA	p.E1133E	LPHN3_uc003hcq.4_Silent_p.E1133E|LPHN3_uc003hct.3_Silent_p.E517E	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	1111					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TACGAAAAGAGTATGGGAAAT	0.388000													5	64					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10468680	10468680	+	Silent	SNP	C	C	T			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr8:10468680C>T	uc003wtc.3	-	3	3157	c.2928G>A	c.(2926-2928)gcG>gcA	p.A976A		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	976					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TGGTCTCGTCCGCCAACTCAT	0.632000													28	140					0	0	1	0	0
SIAH3	283514	broad.mit.edu	37	13	46357972	46357972	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr13:46357972C>T	uc001vap.3	-	1	438	c.356G>A	c.(355-357)cGc>cAc	p.R119H		NM_198849	NP_942146	Q8IW03	SIAH3_HUMAN	Homo sapiens seven in absentia homolog 3 (Drosophila) (SIAH3), mRNA.	119					multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						CACCTCCAGGCGGCCTTCCCA	0.672000													18	62					0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5190127	5190127	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr5:5190127G>A	uc003jdl.3	+	6	1229	c.1091G>A	c.(1090-1092)aGc>aAc	p.S364N	ADAMTS16_uc003jdk.1_Missense_Mutation_p.S364N|ADAMTS16_uc003jdj.1_Missense_Mutation_p.S364N	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	364	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						ACCTTAAGTAGCTTCTGCCAG	0.483000													20	79					0	0	1	0	0
GRM4	2914	broad.mit.edu	37	6	33996040	33996040	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr6:33996040G>T	uc003oir.4	-	8	2909	c.2546C>A	c.(2545-2547)cCg>cAg	p.P849Q	GRM4_uc011dsn.2_Missense_Mutation_p.P802Q|GRM4_uc010jvh.3_Missense_Mutation_p.P849Q|GRM4_uc010jvi.3_Missense_Mutation_p.P541Q|GRM4_uc003oio.3_Missense_Mutation_p.P541Q|GRM4_uc003oip.3_Non-coding_Transcript|GRM4_uc011dsl.2_Missense_Mutation_p.P709Q|GRM4_uc003oiq.3_Missense_Mutation_p.P716Q|GRM4_uc011dsm.2_Missense_Mutation_p.P680Q	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	849					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.P849Q(3)|p.P733Q(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	GTTCTGCTCCGGGTGGAAGAG	0.597000													4	126					0	0	1	0	0
ZNF502	91392	broad.mit.edu	37	3	44762640	44762640	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr3:44762640A>G	uc011baa.2	+	3	586	c.331A>G	c.(331-333)Acc>Gcc	p.T111A	ZNF502_uc003cns.3_Missense_Mutation_p.T111A|ZNF502_uc011bab.2_Missense_Mutation_p.T111A|ZNF502_uc003cnt.3_Missense_Mutation_p.T111A	NM_001134440	NP_149987	Q8TBZ5	ZN502_HUMAN	Homo sapiens zinc finger protein 502 (ZNF502), transcript variant 2, mRNA.	111					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		CTTGCTTTTGACCTCAAGCCT	0.383000													7	92					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181702058	181702058	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr1:181702058C>T	uc009wxt.3	+	19	3031	c.2836C>T	c.(2836-2838)Cgc>Tgc	p.R946C	CACNA1E_uc001gow.3_Missense_Mutation_p.R946C|CACNA1E_uc009wxs.3_Missense_Mutation_p.R927C|CACNA1E_uc001gox.1_Missense_Mutation_p.R172C	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	946					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CAGCCAGGAACGCAGTCTGGA	0.627000													25	99					0	0	1	0	0
STIL	6491	broad.mit.edu	37	1	47717391	47717391	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr1:47717391C>A	uc001crd.1	-	16	3439	c.3284G>T	c.(3283-3285)aGc>aTc	p.S1095I	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.S1048I|STIL_uc010omo.1_Missense_Mutation_p.S1077I|STIL_uc001crc.1_Missense_Mutation_p.S1094I|STIL_uc001cre.1_Missense_Mutation_p.S1094I	NM_001048166	NP_001041631	Q15468	STIL_HUMAN	Homo sapiens SCL/TAL1 interrupting locus (STIL), transcript variant 1, mRNA.	1094					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				ATGGAGAAGGCTGAATGGGTC	0.368000													9	209					0	0	1	0	0
TYRP1	7306	broad.mit.edu	37	9	12698502	12698502	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr9:12698502G>T	uc003zkv.4	+	3	938	c.760G>T	c.(760-762)Ggg>Tgg	p.G254W		NM_000550	NP_000541	P17643	TYRP1_HUMAN	Homo sapiens tyrosinase-related protein 1 (TYRP1), mRNA.	254					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity	p.T253R(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		TTTTGCAACGGGGAAAAATGT	0.408000									Oculocutaneous Albinism				4	65					0	0	1	0	0
EPHX3	79852	broad.mit.edu	37	19	15338333	15338333	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr19:15338333G>T	uc002nap.3	-	6	1207	c.998C>A	c.(997-999)cCa>cAa	p.P333Q	EPHX3_uc002naq.3_Missense_Mutation_p.P333Q	NM_024794	NP_079070	Q9H6B9	EPHX3_HUMAN	Homo sapiens epoxide hydrolase 3 (EPHX3), transcript variant 1, mRNA.	333						extracellular region	hydrolase activity	p.P333S(1)		endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						CCCTATGCCTGGCAGGATGTG	0.617000													16	57					0	0	1	0	0
FAM105A	54491	broad.mit.edu	37	5	14601484	14601487	+	Frame_Shift_Del	DEL	TTGA	-	-			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr5:14601484_14601487delTTGA	uc003jfj.3	+	3	394_397	c.281_284delTTGA	c.(280-285)gttgatfs	p.V94fs		NM_019018	NP_061891	Q9NUU6	F105A_HUMAN	Homo sapiens family with sequence similarity 105, member A (FAM105A), mRNA.	94										large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					GAGGCAGAGGTTGATTTACTCAGT	0.426													11	59	---	---	---	---					
NOX3	50508	broad.mit.edu	37	6	155743925	155743926	+	Frame_Shift_Del	DEL	CA	-	-			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr6:155743925_155743926delCA	uc003qqm.3	-	9	1313_1314	c.1210_1211delTG	c.(1210-1212)tgcfs	p.C404fs		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	Homo sapiens NADPH oxidase 3 (NOX3), mRNA.	404							electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CGCGGCAACGCACACACACACT	0.530													7	202	---	---	---	---					
ZCCHC3	85364	broad.mit.edu	37	20	279007	279007	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr20:279007delC	uc002wdf.3	+	0	804	c.780delC	c.(778-780)ttcfs	p.F260fs		NM_033089	NP_149080	Q9NUD5	ZCHC3_HUMAN	Homo sapiens zinc finger, CCHC domain containing 3 (ZCCHC3), mRNA.	260							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			TCATCCTCTTCCGGAACGAGA	0.597													25	74	---	---	---	---					
SLC12A5	57468	broad.mit.edu	37	20	44672552	44672552	+	Frame_Shift_Del	DEL	G	-	-	rs145624716		TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr20:44672552delG	uc010zxl.1	+	10	1519	c.1443delG	c.(1441-1443)gagfs	p.E481fs	SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Frame_Shift_Del_p.E458fs	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	481					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	p.A480V(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCTGCATTGAGGGGGTCGTCC	0.557													8	187	---	---	---	---					
