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
ASTN1	460	broad.mit.edu	37	1	176993813	176993813	+	Silent	SNP	G	G	A			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr1:176993813G>A	ENST00000367654.2	-	6	1189	c.1176C>T	c.(1174-1176)acC>acT	p.T392T	ASTN1_ENST00000367657.3_Silent_p.T392T|ASTN1_ENST00000361833.2_Silent_p.T392T|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Silent_p.T392T			O14525	ASTN1_HUMAN	astrotactin 1	392					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCACACAGCTGGTGATGCTGA	0.517000													3	59					0	0	1	0	0
NHSL2	340527	broad.mit.edu	37	X	71360504	71360504	+	Missense_Mutation	SNP	A	A	C			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chrX:71360504A>C	ENST00000373677.1	+	2	3270	c.2008A>C	c.(2008-2010)Atc>Ctc	p.I670L	NHSL2_ENST00000535692.1_Missense_Mutation_p.I670L|NHSL2_ENST00000540800.1_Missense_Mutation_p.I1036L|NHSL2_ENST00000510661.1_Missense_Mutation_p.I805L			F5H593	F5H593_HUMAN	NHS-like 2	1036								p.I667V(1)|p.I1036V(1)		NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					TCTCAGCCCCATCATCACCCT	0.557000													8	75					0	0	1	0	0
OTUD4	54726	broad.mit.edu	37	4	146059006	146059006	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr4:146059006G>A	ENST00000454497.2	-	21	2863	c.2726C>T	c.(2725-2727)aCt>aTt	p.T909I	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Missense_Mutation_p.T974I	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	973							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					AACAGGCACAGTTTCTCTCTC	0.463000													5	199					0	0	1	0	0
RP11-435B5.4	0	broad.mit.edu	37	1	143403554	143403554	+	RNA	SNP	T	T	G			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr1:143403554T>G	ENST00000423249.1	-	0	59																											GGAACAGGATTTCTTTGGCCA	0.468000													4	15					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		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)		ggaaggggaaaaaaagaaggg	0.413000													5	53					0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129148839	129148839	+	Silent	SNP	G	G	A			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chrX:129148839G>A	ENST00000540052.1	+	3	2135	c.2091G>A	c.(2089-2091)ggG>ggA	p.G697G	BCORL1_ENST00000218147.7_Silent_p.G697G|BCORL1_ENST00000359304.2_Silent_p.G697G|BCORL1_ENST00000303743.5_Silent_p.G697G	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	697					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TGAGGAATGGGGACCCGAGCA	0.607000													3	121					0	0	1	0	0
CCDC19	25790	broad.mit.edu	37	1	159863058	159863058	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr1:159863058G>A	ENST00000368099.4	-	2	105	c.41C>T	c.(40-42)gCc>gTc	p.A14V	CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000426543.2_5'UTR	NM_012337.2	NP_036469.2	Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	14						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			GTTGGAAGCGGCAGAAGAGGA	0.532000													4	163					0	0	1	0	0
USP2	9099	broad.mit.edu	37	11	119244101	119244101	+	Silent	SNP	G	G	A			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr11:119244101G>A	ENST00000260187.2	-	2	384	c.90C>T	c.(88-90)taC>taT	p.Y30Y	RP11-334E6.3_ENST00000530918.2_RNA|USP2_ENST00000455332.2_Intron	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	30	Necessary for interaction with MDM4.				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		AGGACGGGGTGTAGGCACCAT	0.602000													4	63					0	0	1	0	0
KIAA1468	57614	broad.mit.edu	37	18	59919898	59919898	+	Splice_Site	SNP	C	C	A			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr18:59919898C>A	ENST00000256858.6	+	12	1983	c.1733_splice	c.e12-1	p.Q579_splice	KIAA1468_ENST00000398130.2_Splice_Site_p.Q579_splice			Q9P260	K1468_HUMAN	KIAA1468	579							binding	p.Q579K(3)		autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				ATTTTTCAGGCAAATGATACT	0.383000													6	49					0.00307968	0.00328053	1	1	0
DNTTIP1	116092	broad.mit.edu	37	20	44420653	44420653	+	Missense_Mutation	SNP	A	A	T			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr20:44420653A>T	ENST00000372622.3	+	1	78	c.10A>T	c.(10-12)Act>Tct	p.T4S		NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	4						nucleus				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				CATGGGAGCCACTGGCGACGC	0.741000													5	3					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123846133	123846133	+	Missense_Mutation	SNP	G	G	A	rs149524584	byFrequency	TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr10:123846133G>A	ENST00000369005.1	+	4	4458	c.4118G>A	c.(4117-4119)aGc>aAc	p.S1373N	TACC2_ENST00000453444.2_Missense_Mutation_p.S1373N|TACC2_ENST00000334433.3_Missense_Mutation_p.S1373N|TACC2_ENST00000515273.1_Missense_Mutation_p.S1373N|TACC2_ENST00000515603.1_Missense_Mutation_p.S1373N|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1373						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ACAGAGGGCAGCATGGAGAGG	0.607000													3	78					0	0	1	0	0
ZNF534	147658	broad.mit.edu	37	19	52942411	52942411	+	Silent	SNP	G	G	A	rs113700997		TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr19:52942411G>A	ENST00000332323.6	+	4	1798	c.1737G>A	c.(1735-1737)gcG>gcA	p.A579A	ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000433050.1_Silent_p.A566A	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	579					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A579A(4)		central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						CACACCTTGCGCGACATAGGA	0.443000													2	7					0	0	1	0	0
PCDHA4	0	broad.mit.edu	37	5	140188524	140188524	+	Silent	SNP	G	G	A			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr5:140188524G>A	ENST00000530339.1	+	1	1752	c.1752G>A	c.(1750-1752)tcG>tcA	p.S584S	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000356878.4_Silent_p.S584S|PCDHA4_ENST00000512229.2_Silent_p.S584S	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCCATGGTCGGTGGGTGTGG	0.672000													4	156					0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218683463	218683463	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr2:218683463G>A	ENST00000171887.4	-	24	3732	c.3280C>T	c.(3280-3282)Ccg>Tcg	p.P1094S	TNS1_ENST00000419504.1_Missense_Mutation_p.P1081S|TNS1_ENST00000430930.1_Missense_Mutation_p.P1073S	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1094	Ser-rich.					cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TCTCCCGACGGGAAACTCCCC	0.622000													3	59					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137716627	137716627	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr9:137716627G>A	ENST00000371817.3	+	62	5294	c.4880G>A	c.(4879-4881)cGg>cAg	p.R1627Q		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1627	Fibrillar collagen NC1.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CAGATGAAACGGCCCCTGGGC	0.637000													4	52					0	0	1	0	0
OTUD4	54726	broad.mit.edu	37	4	146059041	146059041	+	Silent	SNP	A	A	G			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr4:146059041A>G	ENST00000454497.2	-	21	2828	c.2691T>C	c.(2689-2691)caT>caC	p.H897H	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Silent_p.H962H	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	961							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					GAGTGGGAGGATGAGCCTTTC	0.478000													4	185					0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73759286	73759286	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr11:73759286G>A	ENST00000334126.7	-	28	5685	c.5459C>T	c.(5458-5460)gCc>gTc	p.A1820V	C2CD3_ENST00000313663.7_Missense_Mutation_p.A1820V			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1820						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CTTTGAGGAGGCATGAGCAAG	0.473000													6	20					0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43606831	43606831	+	Silent	SNP	A	A	G			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr10:43606831A>G	ENST00000355710.3	+	7	1672	c.1440A>G	c.(1438-1440)gaA>gaG	p.E480E	RET_ENST00000340058.5_Silent_p.E480E	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	480					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)	AGTGTGCCGAACTTCACTACA	0.627000		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				26	61					0	0	1	0	0
SERPINE3	647174	broad.mit.edu	37	13	51915275	51915275	+	Silent	SNP	C	C	T			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr13:51915275C>T	ENST00000524365.1	+	4	673	c.48C>T	c.(46-48)ctC>ctT	p.L16L	SERPINE3_ENST00000400389.4_Silent_p.L16L|SERPINE3_ENST00000521255.1_Silent_p.L16L			A8MV23	SERP3_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3	16					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)	2						CTTGCTGCCTCCGAGCAAATG	0.542000													22	75					0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18807491	18807491	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr1:18807491G>A	ENST00000400664.1	+	1	68	c.16G>A	c.(16-18)Gca>Aca	p.A6T		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	6						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCAGAGGAGCAGAGGCCCA	0.567000													17	60					0	0	1	0	0
VDR	0	broad.mit.edu	37	12	48240527	48240527	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr12:48240527G>A	ENST00000229022.3	-	9	1101	c.820C>T	c.(820-822)Cgc>Tgc	p.R274C	VDR_ENST00000395324.2_Missense_Mutation_p.R274C|VDR_ENST00000550325.1_Missense_Mutation_p.R324C|VDR_ENST00000549336.1_Missense_Mutation_p.R274C|VDR_ENST00000535672.1_Missense_Mutation_p.R242C	NM_001017535.1	NP_001017535.1	P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	274	Ligand-binding.|Vitamin D3 binding.		R -> L (in VDDR2A; decreases affinity for ligand by a factor of 1000).		decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	TCATTGGAGCGCAACATGATG	0.542000													3	79					0	0	1	0	0
RANBP9	10048	broad.mit.edu	37	6	13711709	13711709	+	Missense_Mutation	SNP	G	G	T			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr6:13711709G>T	ENST00000011619.3	-	1	87	c.29C>A	c.(28-30)cCg>cAg	p.P10Q		NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	10	Poly-Pro.				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			ctgctgctgcggcggcggcgg	0.761000													2	10					1	1	1	1	0
STAT2	6773	broad.mit.edu	37	12	56748323	56748323	+	Missense_Mutation	SNP	C	C	T			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr12:56748323C>T	ENST00000314128.4	-	8	732	c.709G>A	c.(709-711)Gag>Aag	p.E237K	STAT2_ENST00000557235.1_Missense_Mutation_p.E233K|STAT2_ENST00000418572.2_Missense_Mutation_p.E233K			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	237					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						GCCTTCCACTCCTCCAACTTT	0.542000													7	127					0	0	1	0	0
ERCC6-PGBD3	0	broad.mit.edu	37	10	50723850	50723850	+	Silent	SNP	G	G	A			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr10:50723850G>A	ENST00000515869.1	-	6	2835	c.2715C>T	c.(2713-2715)taC>taT	p.Y905Y	PGBD3_ENST00000508005.2_Silent_p.Y437Y|ERCC6_ENST00000355832.5_Intron|ERCC6-PGBD3_ENST00000447839.2_Silent_p.Y905Y|PGBD3_ENST00000603152.1_Silent_p.Y905Y|PGBD3_ENST00000374127.3_Silent_p.Y437Y	NM_001277059.1	NP_001263988.1																					GTTTCTGGGAGTAACGACTGA	0.438000													4	198					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196715005	196715005	+	Silent	SNP	C	C	T			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr1:196715005C>T	ENST00000367429.4	+	21	3609	c.3369C>T	c.(3367-3369)ttC>ttT	p.F1123F		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1123	Sushi 19.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TTACTTCATTCCCGTTGTCAG	0.403000													11	137					0	0	1	0	0
CREB3L3	84699	broad.mit.edu	37	19	4171092	4171092	+	Missense_Mutation	SNP	C	C	A			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr19:4171092C>A	ENST00000078445.2	+	8	1042	c.895C>A	c.(895-897)Ctc>Atc	p.L299I	CREB3L3_ENST00000595923.1_Missense_Mutation_p.L298I|CREB3L3_ENST00000602257.1_Missense_Mutation_p.L297I|CREB3L3_ENST00000602147.1_Missense_Mutation_p.P263H|CREB3L3_ENST00000252587.3_Intron	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	299	Leucine-zipper.				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTAAGGTCCCTCTTGGAGCA	0.602000													3	73					0.004672	0.00487081	1	1	0
BTK	695	broad.mit.edu	37	X	100630267	100630267	+	Silent	SNP	G	G	A			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chrX:100630267G>A	ENST00000308731.7	-	2	169	c.6C>T	c.(4-6)gcC>gcT	p.A2A	BTK_ENST00000372880.1_Silent_p.A2A|BTK_ENST00000464567.1_5'UTR	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	2					calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GAATCACTGCGGCCATAGCTT	0.468000									Agammaglobulinemia, X-linked				9	111					0	0	1	0	0
TDRD7	23424	broad.mit.edu	37	9	100227245	100227245	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr9:100227245G>A	ENST00000355295.4	+	8	1859	c.1564G>A	c.(1564-1566)Gta>Ata	p.V522I	TDRD7_ENST00000422139.2_Missense_Mutation_p.V448I	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	522	Tudor 1.				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				GTTGCTGGCCGTAAATGCCGA	0.448000													3	64					0	0	1	0	0
SLC28A1	9154	broad.mit.edu	37	15	85461766	85461766	+	Silent	SNP	C	C	T			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr15:85461766C>T	ENST00000394573.1	+	10	1009	c.807C>T	c.(805-807)atC>atT	p.I269I	SLC28A1_ENST00000537216.1_Silent_p.I269I|SLC28A1_ENST00000537624.1_Silent_p.I269I|SLC28A1_ENST00000537703.1_Silent_p.I191I|SLC28A1_ENST00000538177.1_Silent_p.I269I|SLC28A1_ENST00000286749.3_Silent_p.I269I	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	269					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TTCTGCCCATCATTGTCTTTT	0.597000													5	150					0	0	1	0	0
PMEPA1	56937	broad.mit.edu	37	20	56284608	56284608	+	Missense_Mutation	SNP	C	C	T			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr20:56284608C>T	ENST00000341744.3	-	1	350	c.31G>A	c.(31-33)Gcc>Acc	p.A11T	PMEPA1_ENST00000347215.4_Intron|PMEPA1_ENST00000265626.4_Intron|PMEPA1_ENST00000395816.3_Intron|PMEPA1_ENST00000472841.1_Intron	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	11					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						gcggcggcggcggTGCTGTTG	0.751000													2	1					0	0	1	0	0
GLB1L	79411	broad.mit.edu	37	2	220108253	220108253	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr2:220108253G>A	ENST00000295759.7	-	2	356	c.43C>T	c.(43-45)Ccg>Tcg	p.P15S	GLB1L_ENST00000356283.3_Missense_Mutation_p.P15S|GLB1L_ENST00000392089.2_Missense_Mutation_p.P15S|GLB1L_ENST00000409640.1_Missense_Mutation_p.P15S			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	15					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGCTGAGCGGCAGCAGCAGG	0.612000													3	100					0	0	1	0	0
C12orf10	60314	broad.mit.edu	37	12	53700517	53700517	+	Silent	SNP	G	G	A			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr12:53700517G>A	ENST00000267103.5	+	6	871	c.819G>A	c.(817-819)aaG>aaA	p.K273K	C12orf10_ENST00000549488.1_Silent_p.K110K|C12orf10_ENST00000548632.1_Silent_p.K198K	NM_021640.3	NP_067653.3	Q86UA3	Q86UA3_HUMAN	chromosome 12 open reading frame 10	273										cervix(1)|endometrium(3)|kidney(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	20						GTCCCTGGAAGGAGCATCTCT	0.532000													3	145					0	0	1	0	0
RRN3P2	0	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													3	59					0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98809456	98809456	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr2:98809456G>A	ENST00000477737.1	+	11	1766	c.1562G>A	c.(1561-1563)aGc>aAc	p.S521N	VWA3B_ENST00000435344.1_Missense_Mutation_p.S521N|VWA3B_ENST00000451075.2_Missense_Mutation_p.S371N	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	521	VWFA.									NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TCAATGAAGAGCAAACTGGAC	0.423000													6	140					0	0	1	0	0
HOXD12	3238	broad.mit.edu	37	2	176965332	176965332	+	Missense_Mutation	SNP	C	C	A			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr2:176965332C>A	ENST00000406506.2	+	2	729	c.657C>A	c.(655-657)aaC>aaA	p.N219K	HOXD12_ENST00000404162.2_Silent_p.R229R			P35452	HXD12_HUMAN	homeobox D12	219						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		AGTTGGAGAACGAATTCCTCG	0.567000													5	27					3.59834e-05	3.91819e-05	1	1	0
POTEE	445582	broad.mit.edu	37	2	132021599	132021599	+	Silent	SNP	C	C	T			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr2:132021599C>T	ENST00000356920.5	+	15	2665	c.2571C>T	c.(2569-2571)gaC>gaT	p.D857D	POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	857	Actin-like.						ATP binding										ACTCTGGTGACGGGGTCACCC	0.617000													6	234					0	0	1	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74911324	74911324	+	Missense_Mutation	SNP	C	C	A			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr11:74911324C>A	ENST00000289575.5	+	11	2050	c.1655C>A	c.(1654-1656)tCc>tAc	p.S552Y	SLCO2B1_ENST00000525650.1_Missense_Mutation_p.S408Y|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.S325Y|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.S530Y|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.S325Y|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.S436Y|SLCO2B1_ENST00000531756.1_Missense_Mutation_p.S297Y	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	552					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	CTGGCAGGATCCTGCGACTCA	0.622000													12	218					5.50884e-06	6.13484e-06	1	1	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				38	65					0	0	1	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81058872	81058872	+	Missense_Mutation	SNP	C	C	T			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr10:81058872C>T	ENST00000334512.5	+	16	2304	c.1732C>T	c.(1732-1734)Cgc>Tgc	p.R578C		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	578					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			GGAGCCCTTCCGCCTGGAGCA	0.662000													4	68					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152128205	152128208	+	Frame_Shift_Del	DEL	TGTC	TGTC	-			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr1:152128205_152128208delTGTC	ENST00000316073.3	-	3	1431_1434	c.1367_1370delGACA	c.(1366-1371)aafs	p.RQ456fs		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	456	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTCTGGCCTTGTCTGTCTGTCTG	0.520													7	1214	---	---	---	---					
SLC20A1	6574	broad.mit.edu	37	2	113416607	113416608	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr2:113416607_113416608delAG	ENST00000272542.3	+	7	1523_1524	c.984_985delAG	c.(982-987)ccagfs	p.PE328fs	SLC20A1_ENST00000480984.1_3'UTR	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	328					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity	p.R332fs*14(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						AGGAAGCTCCAGAGAGAGAGAG	0.515													8	101	---	---	---	---					
RP11-324H6.5	0	broad.mit.edu	37	10	51814320	51814320	+	RNA	DEL	A	A	-	rs11306955		TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr10:51814320delA	ENST00000456967.1	-	0	1657					NR_038275.1																						AACTCTATTGAGAAAAACCTG	0.358													2	4	---	---	---	---					
SLC5A11	115584	broad.mit.edu	37	16	24921737	24921739	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr16:24921737_24921739delCAG	ENST00000347898.3	+	15	2383_2385	c.1761_1763delCAG	c.(1759-1764)gcc>gc	p.AS587del	SLC5A11_ENST00000568579.1_In_Frame_Del_p.AS517del|SLC5A11_ENST00000567758.1_In_Frame_Del_p.AS552del|SLC5A11_ENST00000545376.1_In_Frame_Del_p.AS517del|SLC5A11_ENST00000569071.1_In_Frame_Del_p.AS431del|SLC5A11_ENST00000424767.2_In_Frame_Del_p.AS552del|SLC5A11_ENST00000565769.1_In_Frame_Del_p.AS523del|SLC5A11_ENST00000449109.2_In_Frame_Del_p.AS431del|SLC5A11_ENST00000539472.1_In_Frame_Del_p.AS523del	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11	587					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		TGCCAGAGGCCAGCAGCAGCAGC	0.542													9	87	---	---	---	---					
ACD	65057	broad.mit.edu	37	16	67693646	67693648	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr16:67693646_67693648delGCA	ENST00000219251.8	-	3	873_875	c.542_544delTGC	c.(541-546)cag>c	p.LQ181del	ACD_ENST00000393919.4_In_Frame_Del_p.LQ184del	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	184					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding	p.L181delL(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CCGCAGTCCTGCAGCAGCAGCAG	0.650													7	279	---	---	---	---					
KANK3	256949	broad.mit.edu	37	19	8398950	8398961	+	In_Frame_Del	DEL	TCGCTGTCGCCA	TCGCTGTCGCCA	-	rs111751275		TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr19:8398950_8398961delTCGCTGTCGCCA	ENST00000330915.3	-	5	1532_1543	c.1467_1478delTGGCGACAGCGA	c.(1465-1479)gag>ga	p.DGDSE489del	KANK3_ENST00000593649.1_In_Frame_Del_p.DGDSE489del	NM_198471.2	NP_940873.2	Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	489								p.D489_S492delDGDS(2)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						GCCACCGTTCTCGCTGTCGCCATCGCTGTCGC	0.717													2	4	---	---	---	---