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
MXRA5	25878	broad.mit.edu	37	X	3241681	3241681	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chrX:3241681C>T	uc004crg.4	-	4	2202	c.2045G>A	c.(2044-2046)cGc>cAc	p.R682H		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	682						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGCACCTGGGCGTCTGCCTCT	0.532000													24	18					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179591914	179591914	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr2:179591914C>G	uc021vsy.1	-	65	16671	c.16446G>C	c.(16444-16446)caG>caC	p.Q5482H	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.Q2143H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6409	Ig-like 35.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATTGTTCATCTGTATGACGG	0.448000													21	60					0	0	1	0	0
abParts	0	broad.mit.edu	37	22	22663086	22663086	+	RNA	SNP	T	T	G	rs1054157	by1000genomes	TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr22:22663086T>G	uc021wml.1	+	30		c.2444T>G			abParts_uc011aiq.1_Non-coding_Transcript|abParts_uc011aip.2_Non-coding_Transcript|abParts_uc010gto.3_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		AGCTGCCACATAAGTTGTCCT	0.299000													5	39					0	0	1	0	0
MX2	4600	broad.mit.edu	37	21	42749752	42749752	+	Nonsense_Mutation	SNP	A	A	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr21:42749752A>T	uc002yzf.1	+	2	390	c.286A>T	c.(286-288)Aag>Tag	p.K96*	MX2_uc011aer.1_Non-coding_Transcript	NM_002463	NP_002454	P20592	MX2_HUMAN	Homo sapiens myxovirus (influenza virus) resistance 2 (mouse) (MX2), mRNA.	96					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				GTACGAGCAGAAGGTGCGCCC	0.627000													27	76					0	0	1	0	0
RSPO4	343637	broad.mit.edu	37	20	944643	944643	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr20:944643T>C	uc002wej.3	-	3	630	c.530A>G	c.(529-531)gAg>gGg	p.E177G	RSPO4_uc002wek.3_Intron	NM_001029871	NP_001025042	Q2I0M5	RSPO4_HUMAN	Homo sapiens R-spondin 4 (RSPO4), transcript variant 1, mRNA.	177	TSP type-1.				Wnt receptor signaling pathway	extracellular region	heparin binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						GGTGGCTGCCTCCTCATGCCC	0.672000													8	79					0	0	1	0	0
PPFIA3	8541	broad.mit.edu	37	19	49651494	49651494	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr19:49651494A>G	uc002pmr.3	+	23	3322	c.2990A>G	c.(2989-2991)aAg>aGg	p.K997R	PPFIA3_uc010yai.2_Non-coding_Transcript|PPFIA3_uc002pms.3_Missense_Mutation_p.K856R|PPFIA3_uc002pmt.3_Missense_Mutation_p.K136R|PPFIA3_uc002pmu.1_Missense_Mutation_p.K46R	NM_003660	NP_003651	O75145	LIPA3_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 (PPFIA3), mRNA.	997	SAM 2.					cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GGCCAACTCAAGATGGTGGAC	0.582000													19	15					0	0	1	0	0
RB1CC1	9821	broad.mit.edu	37	8	53569559	53569559	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr8:53569559G>C	uc003xre.4	-	14	3388	c.2830C>G	c.(2830-2832)Caa>Gaa	p.Q944E	RB1CC1_uc003xrf.4_Missense_Mutation_p.Q944E	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Homo sapiens RB1-inducible coiled-coil 1 (RB1CC1), transcript variant 1, mRNA.	944					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ULK1-ATG13-FIP200 complex|cytosol|nucleus|pre-autophagosomal structure	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TCACAATTTTGAGAGTGCATT	0.323000													19	39					0	0	1	0	0
CANT1	124583	broad.mit.edu	37	17	76993313	76993313	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr17:76993313T>C	uc002jwj.3	-	1	887	c.392A>G	c.(391-393)aAg>aGg	p.K131R	CANT1_uc002jwn.3_Missense_Mutation_p.K131R|CANT1_uc002jwk.3_Missense_Mutation_p.K131R|CANT1_uc002jwl.2_Non-coding_Transcript	NM_138793	NP_620148	Q8WVQ1	CANT1_HUMAN	Homo sapiens calcium activated nucleotidase 1 (CANT1), transcript variant 1, mRNA.	131					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi cisterna membrane|endoplasmic reticulum membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CAGGTAGCCCTTTTTCAGGTA	0.577000			T	ETV4	prostate								4	370					0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42795390	42795390	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr19:42795390C>T	uc002otf.1	+	9	2510	c.2470C>T	c.(2470-2472)Cag>Tag	p.Q824*		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	824	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGGAATCACCCAGGTACAGTA	0.692000			"""Mis, F, S"""		oligodendroglioma								4	16					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237666709	237666709	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:237666709G>T	uc001hyl.1	+	21	2637	c.2517G>T	c.(2515-2517)gaG>gaT	p.E839D		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	839					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACAGCCGAGAGTACAAGCAAG	0.507000													16	69					2.35188e-11	2.66781e-11	1	1	0
TTN	7273	broad.mit.edu	37	2	179455636	179455636	+	Silent	SNP	C	C	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr2:179455636C>T	uc021vsy.1	-	252	53337	c.53112G>A	c.(53110-53112)ccG>ccA	p.P17704P	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.P11399P|TTN_uc021vta.1_Silent_p.P11332P|TTN_uc021vtb.1_Silent_p.P11207P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18631	Fibronectin type-III 28.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P17703L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGGAGGAGACGGAGGACTAA	0.458000													46	103					0	0	1	0	0
PAFAH2	5051	broad.mit.edu	37	1	26311003	26311003	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:26311003A>G	uc001bld.4	-	4	538	c.358T>C	c.(358-360)Ttc>Ctc	p.F120L	PAFAH2_uc001ble.4_Missense_Mutation_p.F120L	NM_000437	NP_000428	Q99487	PAFA2_HUMAN	Homo sapiens platelet-activating factor acetylhydrolase 2, 40kDa (PAFAH2), mRNA.	120					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		TCCATGCAGAAGGCTGAATAC	0.522000													17	5					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79026993	79026993	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr5:79026993C>T	uc003kgc.3	+	1	2477	c.2405C>T	c.(2404-2406)gCa>gTa	p.A802V		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	802						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TCCAAATATGCAGCCCCACTC	0.443000													32	71					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48556330	48556330	+	Silent	SNP	T	T	C			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr7:48556330T>C	uc003toq.2	+	51	13674	c.13650T>C	c.(13648-13650)acT>acC	p.T4550T	ABCA13_uc010kys.1_Silent_p.T1625T|ABCA13_uc010kyt.1_Non-coding_Transcript|ABCA13_uc010kyu.1_Silent_p.T280T	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	4550					transport	integral to membrane	ATP binding|ATPase activity	p.T4495T(1)|p.T4550T(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GATATGCAACTCTTCCATGGA	0.378000													5	228					0	0	1	0	0
NAB2	4665	broad.mit.edu	37	12	57487218	57487218	+	Silent	SNP	G	G	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr12:57487218G>A	uc001smz.3	+	5	1683	c.1305G>A	c.(1303-1305)ccG>ccA	p.P435P		NM_005967	NP_005958	Q15742	NAB2_HUMAN	Homo sapiens NGFI-A binding protein 2 (EGR1 binding protein 2) (NAB2), mRNA.	435					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GGCTGACGCCGCCCCCTGCTG	0.657000													3	14					0	0	1	0	0
CCDC15	80071	broad.mit.edu	37	11	124857585	124857585	+	Missense_Mutation	SNP	C	C	A	rs112861775		TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr11:124857585C>A	uc001qbm.4	+	7	1722	c.1463C>A	c.(1462-1464)cCc>cAc	p.P488H		NM_025004	NP_079280	Q0P6D6	CCD15_HUMAN	Homo sapiens coiled-coil domain containing 15 (CCDC15), mRNA.	488						centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		CATGTTCTCCCCAAAGACCAA	0.403000													4	189					0.150653	0.150653	1	1	0
SRRM4	84530	broad.mit.edu	37	12	119583235	119583235	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr12:119583235C>T	uc001txa.2	+	8	1209	c.821C>T	c.(820-822)cCg>cTg	p.P274L		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	Homo sapiens serine/arginine repetitive matrix 4 (SRRM4), mRNA.	274	Ser-rich.				RNA splicing|cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						ACAGCCAGCCCGCTCACCACC	0.612000													4	8					0	0	1	0	0
GPR85	54329	broad.mit.edu	37	7	112723879	112723879	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr7:112723879G>C	uc010ljv.2	-	1	1415	c.898C>G	c.(898-900)Ccc>Gcc	p.P300A	GPR85_uc003vgp.1_Missense_Mutation_p.P300A|GPR85_uc003vgq.2_Missense_Mutation_p.P300A|GPR85_uc010ljw.1_Missense_Mutation_p.P300A|GPR85_uc022akd.1_Missense_Mutation_p.P300A	NM_001146266	NP_061843	P60893	GPR85_HUMAN	Homo sapiens G protein-coupled receptor 85 (GPR85), transcript variant 3, mRNA.	300						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P300T(2)|p.G299C(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						ACCAGGTAGGGGCCCCACAAG	0.458000													3	88					0	0	1	0	0
DCAF17	80067	broad.mit.edu	37	2	172337525	172337525	+	Silent	SNP	A	A	C			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr2:172337525A>C	uc002ugx.3	+	13	1791	c.1464A>C	c.(1462-1464)ctA>ctC	p.L488L	DCAF17_uc010zdq.2_Non-coding_Transcript|DCAF17_uc010zdr.2_Non-coding_Transcript|DCAF17_uc010fqf.2_Silent_p.L421L|DCAF17_uc010fqg.3_Silent_p.L208L	NM_025000	NP_079276	Q5H9S7	DCA17_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 17 (DCAF17), transcript variant 1, mRNA.	488						CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						ACTTGGTGCTACACATAGAGC	0.398000													6	142					0	0	1	0	0
LRRC37A2	474170	broad.mit.edu	37	17	45127107	45127107	+	Missense_Mutation	SNP	C	C	G	rs147409399	by1000genomes	TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr17:45127107C>G	uc010wkj.1	+	1	659	c.305C>G	c.(304-306)aCc>aGc	p.T102S	ARL17_uc021tzb.1_Intron|DQ597730_uc010wkl.2_Non-coding_Transcript			A6NM11	L37A2_HUMAN	Homo sapiens cDNA FLJ42521 fis, clone BRACE3000973.	1238						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		CCTTCGTTCACCCAAGAGCAT	0.592000													4	78					0	0	1	0	0
SHPRH	257218	broad.mit.edu	37	6	146271526	146271526	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr6:146271526G>A	uc003qlf.3	-	3	1255	c.856C>T	c.(856-858)Caa>Taa	p.Q286*	SHPRH_uc003qle.3_Nonsense_Mutation_p.Q286*|SHPRH_uc003qlg.1_5'UTR|SHPRH_uc003qlj.1_Nonsense_Mutation_p.Q175*	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	Homo sapiens SNF2 histone linker PHD RING helicase (SHPRH), transcript variant 1, mRNA.	286					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TGCGTTTCTTGCTGATGTGTT	0.468000													62	147					0	0	1	0	0
SLC26A5	375611	broad.mit.edu	37	7	103018895	103018895	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr7:103018895C>G	uc003vbz.3	-	16	2045	c.1783G>C	c.(1783-1785)Gca>Cca	p.A595P	SLC26A5_uc003vbt.2_Missense_Mutation_p.A595P|SLC26A5_uc003vbu.2_Intron|SLC26A5_uc003vbv.2_Intron|SLC26A5_uc003vbw.3_Non-coding_Transcript|SLC26A5_uc003vby.3_Non-coding_Transcript|SLC26A5_uc010liy.3_Intron|SLC26A5_uc003vbx.3_Missense_Mutation_p.A563P	NM_198999	NP_945350	P58743	S26A5_HUMAN	Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.	595	STAS.				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						CCACTCACTGCTTTGACAACA	0.448000													13	115					0	0	1	0	0
TMEM19	55266	broad.mit.edu	37	12	72094645	72094645	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr12:72094645G>A	uc001sws.3	+	5	1464	c.881G>A	c.(880-882)aGc>aAc	p.S294N		NM_018279	NP_060749	Q96HH6	TMM19_HUMAN	Homo sapiens transmembrane protein 19 (TMEM19), mRNA.	294						integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		GTGGTCAACAGCCCAACAAAT	0.413000													8	196					0	0	1	0	0
STMN3	50861	broad.mit.edu	37	20	62273610	62273610	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr20:62273610C>T	uc002yfr.1	-	3	416	c.334G>A	c.(334-336)Gag>Aag	p.E112K	STMN3_uc021wgd.1_Non-coding_Transcript	NM_015894	NP_056978	Q9NZ72	STMN3_HUMAN	Homo sapiens stathmin-like 3 (STMN3), mRNA.	112					cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of Rac GTPase activity|regulation of cytoskeleton organization	cytoplasm	protein domain specific binding			kidney(1)|large_intestine(1)|lung(5)|prostate(1)	8	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)			CGCTCGTGCTCGCGCCGCTCC	0.692000													6	25					0	0	1	0	0
DMRT3	58524	broad.mit.edu	37	9	977181	977181	+	Silent	SNP	C	C	G			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr9:977181C>G	uc003zgw.1	+	0	218	c.180C>G	c.(178-180)ctC>ctG	p.L60L		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 3 (DMRT3), mRNA.	60					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		AGTGCATCCTCATCATCGAGC	0.667000													4	41					0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20643888	20643888	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr15:20643888T>C	uc001ytg.3	-	22	3591	c.2882A>G	c.(2881-2883)gAc>gGc	p.D961G	HERC2P3_uc010tyx.1_Non-coding_Transcript|HERC2P3_uc001yth.4_Missense_Mutation_p.D961G					Homo sapiens hect domain and RLD 2 pseudogene 3 (HERC2P3), non-coding RNA.											central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CGTCCGCATGTCAGAGAACTG	0.498000													48	161					0	0	1	0	0
STX11	8676	broad.mit.edu	37	6	144507945	144507945	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr6:144507945G>A	uc003qks.4	+	1	373	c.181G>A	c.(181-183)Gac>Aac	p.D61N	STX11_uc021zgk.1_Missense_Mutation_p.D61N	NM_003764	NP_003755	O75558	STX11_HUMAN	Homo sapiens syntaxin 11 (STX11), mRNA.	61				D -> N (in Ref. 1; AAD02107).	cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		GCTGGTGGCCGACGTGAAGCG	0.612000									Familial Hemophagocytic Lymphohistiocytosis				9	21					0	0	1	0	0
CAPNS1	826	broad.mit.edu	37	19	36631958	36631958	+	Silent	SNP	C	C	G			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr19:36631958C>G	uc002odi.1	+	1	202	c.45C>G	c.(43-45)ggC>ggG	p.G15G	CAPNS1_uc002odk.3_Silent_p.G15G|CAPNS1_uc002odj.3_Silent_p.G15G|CAPNS1_uc002odl.3_Silent_p.G15G	NM_001749	NP_001740	P04632	CPNS1_HUMAN	Homo sapiens calpain, small subunit 1 (CAPNS1), transcript variant 1, mRNA.	15	Gly-rich (hydrophobic).|Poly-Gly.				positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			gcggcggcggcgggggaggcg	0.736000													3	17					0	0	1	0	0
SLC44A3	126969	broad.mit.edu	37	1	95307657	95307657	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:95307657G>A	uc001dqv.4	+	7	969	c.862G>A	c.(862-864)Gct>Act	p.A288T	SLC44A3_uc001dqx.4_Missense_Mutation_p.A288T|SLC44A3_uc010otq.2_Missense_Mutation_p.A220T|SLC44A3_uc010otr.2_Missense_Mutation_p.A252T|SLC44A3_uc001dqw.4_Missense_Mutation_p.A240T|SLC44A3_uc010ots.2_Missense_Mutation_p.A208T|SLC44A3_uc009wds.3_Missense_Mutation_p.A191T|SLC44A3_uc010ott.2_Missense_Mutation_p.A208T|SLC44A3_uc010otu.1_Non-coding_Transcript	NM_001114106	NP_689582	Q8N4M1	CTL3_HUMAN	Homo sapiens solute carrier family 44, member 3 (SLC44A3), transcript variant 1, mRNA.	288						integral to membrane|plasma membrane	choline transmembrane transporter activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	GCTGGGGTTTGCTATCGTATC	0.448000													12	68					0	0	1	0	0
ZC3H14	79882	broad.mit.edu	37	14	89044394	89044394	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr14:89044394G>A	uc001xww.3	+	8	1414	c.1189G>A	c.(1189-1191)Gaa>Aaa	p.E397K	ZC3H14_uc010twd.2_Missense_Mutation_p.E397K|ZC3H14_uc010twe.2_Missense_Mutation_p.E397K|ZC3H14_uc001xwx.3_Missense_Mutation_p.E397K|ZC3H14_uc010twf.2_Missense_Mutation_p.E242K|ZC3H14_uc001xwy.3_Missense_Mutation_p.E363K|ZC3H14_uc010twg.2_Missense_Mutation_p.E242K|ZC3H14_uc001xxa.3_5'UTR	NM_024824	NP_079100	Q6PJT7	ZC3HE_HUMAN	Homo sapiens zinc finger CCCH-type containing 14 (ZC3H14), transcript variant 1, mRNA.	397						cytoplasm|nuclear speck	RNA binding|protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						ATTGCTAGCAGAAGTGGTCCA	0.388000													43	62					0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157516858	157516858	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:157516858T>C	uc009wsm.3	-	2	340	c.182A>G	c.(181-183)tAc>tGc	p.Y61C	FCRL5_uc001fqu.3_Missense_Mutation_p.Y61C|FCRL5_uc010phv.1_Missense_Mutation_p.Y61C|FCRL5_uc010phw.1_Intron|FCRL5_uc001fqv.1_Missense_Mutation_p.Y61C|FCRL5_uc010phx.2_5'UTR	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	61	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TTTCCCAAGGTACCGATGGTA	0.502000													29	68					0	0	1	0	0
ANKRD18DP	348840	broad.mit.edu	37	3	197803880	197803880	+	RNA	SNP	C	C	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr3:197803880C>T	uc003fyx.3	-	2		c.475G>A			ANKRD18DP_uc010iat.2_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 18D, pseudogene (ANKRD18DP), non-coding RNA.																		TGGCAATATACAGCCTGTCAG	0.368000													3	34					0	0	1	0	0
OR4A47	403253	broad.mit.edu	37	11	48511063	48511063	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr11:48511063C>A	uc010rhx.2	+	0	719	c.719C>A	c.(718-720)tCc>tAc	p.S240Y		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 47 (OR4A47), mRNA.	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						ACCTGCAGTTCCCACATGACT	0.413000													13	141					4.3838e-07	4.89954e-07	1	1	0
CEP97	79598	broad.mit.edu	37	3	101446274	101446274	+	Silent	SNP	G	G	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr3:101446274G>A	uc003dvk.1	+	2	261	c.234G>A	c.(232-234)aaG>aaA	p.K78K	CEP97_uc010hpm.1_Silent_p.K78K|CEP97_uc011bhf.1_Silent_p.K78K|CEP97_uc003dvl.1_5'UTR	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN	Homo sapiens centrosomal protein 97kDa (CEP97), mRNA.	78						centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						GTGTGGCCAAGCTGACGTTGC	0.373000													5	160					0	0	1	0	0
C2orf28	51374	broad.mit.edu	37	2	27438348	27438348	+	Silent	SNP	G	G	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr2:27438348G>A	uc002rjf.3	+	3	638	c.465G>A	c.(463-465)ctG>ctA	p.L155L	C2orf28_uc002rjg.3_Silent_p.L42L|CAD_uc002rji.3_5'Flank|CAD_uc010eyw.3_5'Flank	NM_001170795	NP_001164266	Q6UW56	APR3_HUMAN	Homo sapiens chromosome 2 open reading frame 28 (C2orf28), transcript variant 3, mRNA.	100	EGF-like.					integral to membrane|plasma membrane				large_intestine(2)|lung(2)|skin(2)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCAGAGACCTGCAAGCAAACC	0.468000													44	78					0	0	1	0	0
UCN2	90226	broad.mit.edu	37	3	48600467	48600467	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr3:48600467G>A	uc003cty.1	-	1	169	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C	PFKFB4_uc011bbm.2_5'Flank|UCN2_uc021wxo.1_Missense_Mutation_p.R31C	NM_033199	NP_149976	Q96RP3	UCN2_HUMAN	Homo sapiens urocortin 2 (UCN2), mRNA.	31					cAMP biosynthetic process|digestion|response to stress		hormone activity|hormone binding								BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TTCTGAGGGCGGAGCTGGAAG	0.632000													3	19					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								48	69					0	0	1	0	0
abParts	0	broad.mit.edu	37	22	22663087	22663087	+	RNA	SNP	A	A	G	rs1054158		TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr22:22663087A>G	uc021wml.1	+	30		c.2445A>G			abParts_uc011aiq.1_Non-coding_Transcript|abParts_uc011aip.2_Non-coding_Transcript|abParts_uc010gto.3_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		GCTGCCACATAAGTTGTCCTT	0.303000													5	39					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625891	29625891	+	Silent	SNP	C	C	G			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr20:29625891C>G	uc010ztl.1	+	1	77	c.45C>G	c.(43-45)ggC>ggG	p.G15G	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.P15P(1)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGAAATCTGGCTATGGAAAAT	0.343000													4	114					0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6266847	6266847	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr6:6266847C>T	uc003mwv.3	-	3	638	c.515G>A	c.(514-516)cGa>cAa	p.R172Q	F13A1_uc011dib.2_Missense_Mutation_p.R109Q	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	172					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.R172Q(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TCGACTGGTTCGAAGTACGCC	0.458000													64	118					0	0	1	0	0
CACHD1	57685	broad.mit.edu	37	1	65141193	65141193	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:65141193T>C	uc001dbo.1	+	19	2789	c.2684T>C	c.(2683-2685)cTt>cCt	p.L895P	CACHD1_uc001dbp.1_Missense_Mutation_p.L650P|CACHD1_uc001dbq.1_Missense_Mutation_p.L650P|CACHD1_uc010opa.1_Missense_Mutation_p.L139P	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	Homo sapiens cache domain containing 1 (CACHD1), mRNA.	946					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TGCGACTCTCTTGCCTTCTGT	0.478000											OREG0013544	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	133					0	0	1	0	0
TMBIM4	51643	broad.mit.edu	37	12	66531809	66531809	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr12:66531809G>T	uc009zqr.3	-	7	865	c.789C>A	c.(787-789)agC>agA	p.S263R	LLPH_uc010ssx.2_Non-coding_Transcript|TMBIM4_uc001stc.3_Missense_Mutation_p.S216R|TMBIM4_uc001std.3_Missense_Mutation_p.S185R|TMBIM4_uc001stf.3_3'UTR|TMBIM4_uc009zqs.3_3'UTR	NM_016056	NP_057140	Q9HC24	TMBI4_HUMAN	Homo sapiens transmembrane BAX inhibitor motif containing 4 (TMBIM4), mRNA.	216						integral to membrane	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		CCAAGTAGAGGCTGATGGCAG	0.413000													4	129					0.00198382	0.00206534	1	1	0
COG5	10466	broad.mit.edu	37	7	106851543	106851543	+	Splice_Site	SNP	C	C	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr7:106851543C>T	uc003vec.2	-	20	2913	c.2388_splice	c.e20+1	p.Q796_splice	COG5_uc003ved.2_Splice_Site_p.Q775_splice|COG5_uc003vee.2_Splice_Site_p.Q796_splice	NM_006348	NP_006339	Q9UP83	COG5_HUMAN	Homo sapiens component of oligomeric golgi complex 5 (COG5), transcript variant 1, mRNA.	775					intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						TTATTTATTACCTGGAAAGGA	0.468000													28	67					0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43622043	43622043	+	Silent	SNP	G	G	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr10:43622043G>A	uc001jal.3	+	18	3250	c.3060G>A	c.(3058-3060)gcG>gcA	p.A1020A	RET_uc001jak.1_Silent_p.A1020A|RET_uc010qez.1_Silent_p.A766A	NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	1020					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	ACCTTGCGGCGTCCACTCCAT	0.552000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				176	240					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159618496	159618496	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr6:159618496T>C	uc010kjv.3	+	1	343	c.143T>C	c.(142-144)cTg>cCg	p.L48P	FNDC1_uc010kjw.1_5'UTR	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	48	Fibronectin type-III 1.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CATGTGAAACTGCTGTCCACT	0.453000													60	144					0	0	1	0	0
TRIM54	57159	broad.mit.edu	37	2	27505759	27505759	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr2:27505759G>A	uc002rjo.3	+	0	463	c.160G>A	c.(160-162)Gtc>Atc	p.V54I	TRIM54_uc002rjn.3_Missense_Mutation_p.V54I	NM_187841	NP_912730	Q9BYV2	TRI54_HUMAN	Homo sapiens tripartite motif containing 54 (TRIM54), transcript variant 2, mRNA.	54					cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCCAACGACGTCTTCCAGGT	0.592000													112	191					0	0	1	0	0
SLC5A8	160728	broad.mit.edu	37	12	101573832	101573832	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr12:101573832G>A	uc001thz.4	-	9	1598	c.1208C>T	c.(1207-1209)gCg>gTg	p.A403V		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA.	403					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CATAAGTGACGCCAGCGCAGC	0.443000													63	168					0	0	1	0	0
NPAS3	64067	broad.mit.edu	37	14	34269615	34269615	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr14:34269615G>A	uc001wru.3	+	11	2166	c.2102G>A	c.(2101-2103)gGt>gAt	p.G701D	NPAS3_uc001wrs.3_Missense_Mutation_p.G688D|NPAS3_uc001wrv.3_Missense_Mutation_p.G671D|NPAS3_uc001wrt.3_Missense_Mutation_p.G669D	NM_001164749	NP_001158221	Q8IXF0	NPAS3_HUMAN	Homo sapiens neuronal PAS domain protein 3 (NPAS3), transcript variant 1, mRNA.	701	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GGCGGTGGGGGTGGCGGTGGC	0.746000													3	54					0	0	1	0	0
RS1	6247	broad.mit.edu	37	X	18665417	18665417	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chrX:18665417C>G	uc004cyo.3	-	3	255	c.220G>C	c.(220-222)Ggg>Cgg	p.G74R	CDKL5_uc004cym.3_Intron|CDKL5_uc004cyn.3_Intron	NM_000330	NP_000321	O15537	XLRS1_HUMAN	Homo sapiens retinoschisin 1 (RS1), mRNA.	74	F5/8 type C.		G -> V (in XLRS1).		cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space				cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					GTGACCTCCCCTGACTCGAAA	0.507000													15	46					0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79470843	79470843	+	Silent	SNP	G	G	C			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:79470843G>C	uc001diq.4	-	1	240	c.84C>G	c.(82-84)ctC>ctG	p.L28L		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	28	EGF-like 1.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TTGCATTTGGGAGACAAGGTG	0.343000													49	17					0	0	1	0	0
SF3B14	51639	broad.mit.edu	37	2	24299092	24299092	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr2:24299092A>T	uc002rev.3	-	0	223	c.8T>A	c.(7-9)aTg>aAg	p.M3K	LOC375190_uc002rew.3_5'Flank|SF3B14_uc010eyb.3_Non-coding_Transcript	NM_016047	NP_057131	Q9Y3B4	PM14_HUMAN	Homo sapiens splicing factor 3B, 14 kDa subunit (SF3B14), mRNA.	3					nuclear mRNA splicing, via spliceosome	U12-type spliceosomal complex|nucleoplasm	RNA binding|nucleotide binding|protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCGCTTGCATCGCCATCTT	0.567000													61	142					0	0	1	0	0
NT5DC2	64943	broad.mit.edu	37	3	52561696	52561696	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr3:52561696C>A	uc003den.3	-	8	1014	c.974G>T	c.(973-975)cGc>cTc	p.R325L	NT5DC2_uc003dem.3_Missense_Mutation_p.R158L|NT5DC2_uc010hmi.3_Missense_Mutation_p.R300L|NT5DC2_uc010hmj.3_Missense_Mutation_p.R104L|NT5DC2_uc003deo.3_Missense_Mutation_p.R288L	NM_001134231	NP_001127703	Q9H857	NT5D2_HUMAN	Homo sapiens 5'-nucleotidase domain containing 2 (NT5DC2), transcript variant 1, mRNA.	288							hydrolase activity|metal ion binding			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		GAAGAGCTGGCGCCAATCGGG	0.627000													3	80					0.150653	0.150653	1	1	0
AHNAK2	113146	broad.mit.edu	37	14	105409805	105409805	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr14:105409805C>T	uc010axc.1	-	6	12103	c.11983G>A	c.(11983-11985)Gcg>Acg	p.A3995T	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.A3895T	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	3995						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACCTTTGGCGCGGTCACATCC	0.612000													118	198					0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140718979	140718979	+	Silent	SNP	G	G	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr5:140718979G>T	uc003ljk.2	+	0	626	c.441G>T	c.(439-441)acG>acT	p.T147T	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Silent_p.T147T	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	147	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAACCACTACGCCAGGATTCC	0.458000													5	112					0.0293803	0.0301744	1	1	0
SOAT1	6646	broad.mit.edu	37	1	179316745	179316745	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:179316745T>G	uc001gml.3	+	11	1359	c.1128T>G	c.(1126-1128)atT>atG	p.I376M	SOAT1_uc010pni.2_Missense_Mutation_p.I311M|SOAT1_uc001gmm.3_Missense_Mutation_p.I318M|SOAT1_uc010pnj.2_Missense_Mutation_p.I112M|SOAT1_uc010pnk.2_Missense_Mutation_p.I311M	NM_003101	NP_003092	P35610	SOAT1_HUMAN	Homo sapiens sterol O-acyltransferase 1 (SOAT1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	376					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol O-acyltransferase activity|cholesterol binding|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	GTGTGCTGATTCTCTTCCTTA	0.348000													6	65					0	0	1	0	0
SLC26A5	375611	broad.mit.edu	37	7	103018911	103018911	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr7:103018911G>T	uc003vbz.3	-	16	2029	c.1767C>A	c.(1765-1767)aaC>aaA	p.N589K	SLC26A5_uc003vbt.2_Missense_Mutation_p.N589K|SLC26A5_uc003vbu.2_Intron|SLC26A5_uc003vbv.2_Intron|SLC26A5_uc003vbw.3_Non-coding_Transcript|SLC26A5_uc003vby.3_Non-coding_Transcript|SLC26A5_uc010liy.3_Intron|SLC26A5_uc003vbx.3_Missense_Mutation_p.N557K	NM_198999	NP_945350	P58743	S26A5_HUMAN	Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.	589	STAS.				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						CAACAGTTGCGTTGGCCATAT	0.448000													18	150					1.64113e-05	1.7818e-05	1	1	0
KCND2	3751	broad.mit.edu	37	7	119914854	119914854	+	Silent	SNP	G	G	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr7:119914854G>A	uc003vjj.1	+	0	1133	c.168G>A	c.(166-168)caG>caA	p.Q56Q		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	56					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					AGACGTGGCAGGACACCCTGG	0.567000													10	232					0	0	1	0	0
CCDC135	84229	broad.mit.edu	37	16	57732824	57732824	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr16:57732824C>G	uc002emi.3	+	2	355	c.266C>G	c.(265-267)cCc>cGc	p.P89R	CCDC135_uc002emj.3_Missense_Mutation_p.P89R|CCDC135_uc002emk.3_Missense_Mutation_p.P89R	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	Homo sapiens coiled-coil domain containing 135 (CCDC135), mRNA.	89						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						ACCAACACACCCAAGGAGGAA	0.577000													43	227					0	0	1	0	0
NELL2	4753	broad.mit.edu	37	12	45000951	45000951	+	Splice_Site	SNP	C	C	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr12:45000951C>T	uc010skz.1	-	16	1938	c.1813_splice	c.e16+1	p.D605_splice	NELL2_uc001rof.3_Splice_Site_p.D554_splice|NELL2_uc001rog.2_Splice_Site_p.D555_splice|NELL2_uc001roh.2_Splice_Site_p.D555_splice|NELL2_uc009zkd.2_Splice_Site_p.D554_splice|NELL2_uc010sla.1_Splice_Site_p.D578_splice|NELL2_uc001roi.1_Splice_Site_p.D555_splice|NELL2_uc010slb.1_Splice_Site_p.D554_splice	NM_001145107	NP_006150	Q99435	NELL2_HUMAN	Homo sapiens NEL-like 2 (chicken) (NELL2), transcript variant 1, mRNA.	555	EGF-like 6; calcium-binding (Potential).				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GATATTCTTACCCGTTTCACA	0.408000													5	41					0	0	1	0	0
TULP4	56995	broad.mit.edu	37	6	158902198	158902198	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr6:158902198G>A	uc003qrf.3	+	7	2720	c.1363G>A	c.(1363-1365)Ggc>Agc	p.G455S	TULP4_uc011efo.2_Missense_Mutation_p.G455S|TULP4_uc003qrg.3_Missense_Mutation_p.G455S	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	Homo sapiens tubby like protein 4 (TULP4), transcript variant 1, mRNA.	455					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GGAGGTGGGCGGCCCGTGCTA	0.617000													3	65					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	144815953	144815953	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:144815953A>G	uc009wig.1	+	10	1512	c.1318A>G	c.(1318-1320)Aat>Gat	p.N440D	NBPF10_uc010oxo.1_Missense_Mutation_p.N442D|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc001eli.3_Non-coding_Transcript|NBPF10_uc009wii.1_Missense_Mutation_p.N171D|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|NBPF10_uc021ouf.1_Missense_Mutation_p.N102D	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	442								p.N184D(2)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CAACGATGACAATGAAGATGT	0.423000													7	200					0	0	1	0	0
COL18A1	80781	broad.mit.edu	37	21	46924342	46924342	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr21:46924342G>T	uc002zhi.3	+	32	3301	c.3280G>T	c.(3280-3282)Gac>Tac	p.D1094Y	COL18A1_uc002zhg.3_Missense_Mutation_p.D914Y|SLC19A1_uc010gpy.1_Intron|COL18A1_uc002zhj.3_5'UTR	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	1329	Triple-helical region 4 (COL4).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GGAGAAGGGAGACCGAGGTGA	0.706000													3	32					0.000602214	0.000644624	1	1	0
LOXL2	4017	broad.mit.edu	37	8	23167365	23167365	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr8:23167365G>A	uc003xdh.1	-	9	2035	c.1696C>T	c.(1696-1698)Cgg>Tgg	p.R566W	LOXL2_uc010lty.1_Missense_Mutation_p.R105W	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	Homo sapiens lysyl oxidase-like 2 (LOXL2), mRNA.	566	Lysyl-oxidase like.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity	p.R566R(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		AACATGGGCCGGTCCTCCAGG	0.657000													3	68					0	0	1	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72658179	72658179	+	Missense_Mutation	SNP	T	T	C	rs147293416	by1000genomes	TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr7:72658179T>C	uc003txs.1	-	12	1733	c.805A>G	c.(805-807)Aaa>Gaa	p.K269E	FKBP6_uc003twz.2_Intron					Homo sapiens GTF2I repeat domain containing 2 pseudogene 1 (GTF2IRD2P1), non-coding RNA.																		cagagtgatttcggatgaatt	0.507000													3	75					0	0	1	0	0
SLC7A9	11136	broad.mit.edu	37	19	33334813	33334813	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr19:33334813A>T	uc002ntv.4	-	9	1139	c.1022T>A	c.(1021-1023)cTt>cAt	p.L341H	SLC7A9_uc002ntt.4_Intron|SLC7A9_uc002ntu.4_Missense_Mutation_p.L341H|SLC7A9_uc021usa.1_Missense_Mutation_p.L341H|SLC7A9_uc002ntw.4_Missense_Mutation_p.L132H	NM_001126335	NP_055085	P82251	BAT1_HUMAN	Homo sapiens solute carrier family 7 (glycoprotein-associated amino acid transporter light chain, bo,+ system), member 9 (SLC7A9), transcript variant 2, mRNA.	341					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	GATGTAAGAAAGCACTTTGAG	0.562000													21	30					0	0	1	0	0
FUBP1	8880	broad.mit.edu	37	1	78432569	78432570	+	Splice_Site	INS	-	-	G			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:78432569_78432570insG	uc001dii.3	-	6	504	c.415_splice	c.e6+1	p.D139_splice	FUBP1_uc001dih.4_Splice_Site|FUBP1_uc010orm.2_Splice_Site_p.D160_splice	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 1 (FUBP1), mRNA.	139	KH 1.				transcription from RNA polymerase II promoter	nucleus	RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TAACATTACCAGGAGCTATCTG	0.312			"""F, N"""		oligodendroglioma								30	42	---	---	---	---					
BNIP1	662	broad.mit.edu	37	5	172578611	172578611	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr5:172578611delT	uc003mci.4	+	2	324	c.220delT	c.(220-222)tttfs	p.F74fs	BNIP1_uc003mcj.4_Intron|BNIP1_uc003mck.4_Frame_Shift_Del_p.F74fs|BNIP1_uc003mcl.4_Intron|BNIP1_uc021yhw.1_Intron	NM_013979	NP_053582	Q12981	SEC20_HUMAN	Homo sapiens BCL2/adenovirus E1B 19kDa interacting protein 1 (BNIP1), transcript variant BNIP1-b, mRNA.	59					anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	SNARE complex|integral to endoplasmic reticulum membrane|nuclear envelope	protein binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TGCTTCCACATTTTTTTTTAA	0.348													7	97	---	---	---	---					
MSH5	4439	broad.mit.edu	37	6	31708253	31708253	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr6:31708253delT	uc003nwu.2	+	1	138	c.10delT	c.(10-12)ttafs	p.L4fs	MSH5_uc003nwx.2_Frame_Shift_Del_p.L4fs|MSH5_uc003nwv.2_Frame_Shift_Del_p.L4fs|MSH5_uc003nww.2_Frame_Shift_Del_p.L4fs	NM_172165	NP_751897	O43196	MSH5_HUMAN	Homo sapiens mutS homolog 5 (E. coli) (MSH5), transcript variant 2, mRNA.	4					chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|ovary(2)|skin(2)	5						CATGGCCTCCTTAGGAGCGAA	0.682								Direct reversal of damage;Mismatch excision repair (MMR)					2	4	---	---	---	---					
ASB6	140459	broad.mit.edu	37	9	132401579	132401580	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr9:132401579_132401580delCT	uc004byf.2	-	3	582_583	c.412_413delAG	c.(412-414)agtfs	p.S138fs	ASB6_uc004bye.1_Frame_Shift_Del_p.S63fs|ASB6_uc010myx.2_Frame_Shift_Del_p.S138fs|ASB6_uc004byg.2_Intron|ASB6_uc011mbt.2_Frame_Shift_Del_p.S59fs	NM_017873	NP_060343	Q9NWX5	ASB6_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 6 (ASB6), transcript variant 1, mRNA.	138					intracellular signal transduction	cytoplasm		p.E137K(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)				CAAGGGGCTACTCTCGTGGATC	0.624													25	54	---	---	---	---					
TFAM	7019	broad.mit.edu	37	10	60148570	60148570	+	Frame_Shift_Del	DEL	A	A	-	rs78912196		TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr10:60148570delA	uc001jkf.3	+	3	564	c.432delA	c.(430-432)acafs	p.T144fs	TFAM_uc001jkg.3_Non-coding_Transcript	NM_003201	NP_003192	Q00059	TFAM_HUMAN	Homo sapiens transcription factor A, mitochondrial (TFAM), nuclear gene encoding mitochondrial protein, mRNA.	144					DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity	p.M143I(1)		kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						AAGCTATGACAAAAAAAAAAG	0.269													7	72	---	---	---	---					
NOX4	50507	broad.mit.edu	37	11	89106662	89106663	+	Splice_Site	INS	-	-	A	rs56022003		TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr11:89106662_89106663insA	uc001pct.3	-	12	1314	c.1075_splice	c.e12-1	p.C359_splice	NOX4_uc009yvr.3_Splice_Site_p.C334_splice|NOX4_uc001pcu.3_Splice_Site_p.C285_splice|NOX4_uc001pcw.3_Splice_Site_p.C52_splice|NOX4_uc001pcx.3_Splice_Site_p.C52_splice|NOX4_uc001pcv.3_Splice_Site_p.C359_splice|NOX4_uc009yvo.3_Splice_Site|NOX4_uc010rtu.2_Splice_Site_p.C193_splice|NOX4_uc009yvp.3_Intron|NOX4_uc010rtv.2_Splice_Site_p.C335_splice|NOX4_uc009yvq.3_Splice_Site_p.C335_splice	NM_016931	NP_001137309	Q9NPH5	NOX4_HUMAN	Homo sapiens NADPH oxidase 4 (NOX4), transcript variant 1, mRNA.	359	FAD-binding FR-type.|Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	NAD(P)H oxidase activity|electron carrier activity|flavin adenine dinucleotide binding|heme binding|nucleotide binding|oxygen sensor activity	p.?(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGTTGGACACTAAAAAAAAATA	0.292													9	168	---	---	---	---					
abParts	0	broad.mit.edu	37	14	106774086	106774087	+	Splice_Site	INS	-	-	AGTAATACACGGCA			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr14:106774086_106774087insAGTAATACACGGCA	uc021ser.1	-	684		c.18723_splice	c.e684+1							Parts of antibodies, mostly variable regions.																		GCCTCTTGCACGTGTCCTCAGC	0.550													5	7	---	---	---	---					
SLCO3A1	28232	broad.mit.edu	37	15	92663795	92663796	+	Frame_Shift_Ins	INS	-	-	T	rs34062402		TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr15:92663795_92663796insT	uc002bqx.2	+	4	1311_1312	c.1110_1111insT	c.(1108-1113)gcctttfs	p.A370fs	SLCO3A1_uc002bqy.2_Frame_Shift_Ins_p.A370fs|SLCO3A1_uc010boc.1_Non-coding_Transcript|SLCO3A1_uc002bqz.1_Frame_Shift_Ins_p.A312fs	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 3A1 (SLCO3A1), transcript variant 1, mRNA.	370					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity	p.A369V(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			GCTTCGCTGCCTTTTTGGGGAA	0.584													47	358	---	---	---	---					
APPBP2	10513	broad.mit.edu	37	17	58571849	58571849	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr17:58571849delG	uc002iys.1	-	2	645	c.357delC	c.(355-357)gccfs	p.A119fs	APPBP2_uc010ddl.1_Frame_Shift_Del_p.A48fs	NM_006380	NP_006371	Q92624	APBP2_HUMAN	Homo sapiens amyloid beta precursor protein (cytoplasmic tail) binding protein 2 (APPBP2), mRNA.	119					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			CAACCTGAATGGCTTTTTCCT	0.403													32	78	---	---	---	---					
IGLL1	3543	broad.mit.edu	37	22	23922291	23922293	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr22:23922291_23922293delCAG	uc002zxd.3	-	0	203_205	c.85_87delCTG	c.(85-87)ctgdel	p.L29del	IGLL1_uc002zxe.3_In_Frame_Del_p.L29del	NM_020070	NP_064455	P15814	IGLL1_HUMAN	Homo sapiens immunoglobulin lambda-like polypeptide 1 (IGLL1), transcript variant 1, mRNA.	29					immune response	extracellular region|membrane				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						CGGCCAGACCCAGCAGCAGCAGG	0.719													3	4	---	---	---	---					
