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
LIN28B	389421	broad.mit.edu	37	6	105406094	105406094	+	Missense_Mutation	SNP	G	G	T			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr6:105406094G>T	ENST00000345080.4	+	2	334	c.131G>T	c.(130-132)gGa>gTa	p.G44V		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	44	CSD.				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				ATGGGATTTGGATTCATCTCC	0.517000													19	114					4.96729e-08	5.37278e-08	1	1	0
AP000525.9	0	broad.mit.edu	37	22	16151010	16151010	+	RNA	SNP	T	T	C	rs143820047	by1000genomes	TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr22:16151010T>C	ENST00000447898.1	-	0	1104																											AGTTGTTCTCTGGAATCAATC	0.393000													4	19					0	0	1	0	0
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443000													4	37					0	0	1	0	0
VSTM2A	222008	broad.mit.edu	37	7	54617801	54617801	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr7:54617801G>A	ENST00000302287.3	+	4	978	c.572G>A	c.(571-573)cGa>cAa	p.R191Q	VSTM2A_ENST00000407838.3_Missense_Mutation_p.R191Q|VSTM2A_ENST00000402026.2_Missense_Mutation_p.R190Q|VSTM2A_ENST00000498834.1_3'UTR|VSTM2A_ENST00000402613.3_Missense_Mutation_p.R191Q|VSTM2A_ENST00000404951.1_Missense_Mutation_p.R191Q			Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	191						extracellular region		p.R190Q(2)|p.R191Q(1)		endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			GCCAACCAACGAACGCACTCC	0.547000													7	13					0	0	1	0	0
FUT1	2523	broad.mit.edu	37	19	49253917	49253917	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr19:49253917C>T	ENST00000310160.3	-	4	1596	c.622G>A	c.(622-624)Ggg>Agg	p.G208R		NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)	208					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		GGGCGGTCCCCTGTGCGGCCC	0.667000													11	257					0	0	1	0	0
C9orf156	51531	broad.mit.edu	37	9	100675695	100675695	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr9:100675695C>T	ENST00000375119.3	-	3	473	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	C9orf156_ENST00000478126.1_5'UTR	NM_016481.3	NP_057565.3	Q9BU70	NAP1_HUMAN	chromosome 9 open reading frame 156	133					interspecies interaction between organisms		hydrolase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13		Acute lymphoblastic leukemia(62;0.158)				TCTACCTTTTCCAGCTTGGCC	0.433000													27	62					0	0	1	0	0
VGLL2	245806	broad.mit.edu	37	6	117593620	117593620	+	Missense_Mutation	SNP	G	G	A	rs143287461	by1000genomes	TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr6:117593620G>A	ENST00000326274.5	+	4	1107	c.917G>A	c.(916-918)cGt>cAt	p.R306H	VGLL2_ENST00000352536.3_Missense_Mutation_p.R132H	NM_182645.2	NP_872586.1	Q8N8G2	VGLL2_HUMAN	vestigial like 2 (Drosophila)	306					transcription, DNA-dependent	nucleus				central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		TTTGCAGCTCGTCGTTATTCC	0.537000													7	323					0	0	1	0	0
PRSS3P2	0	broad.mit.edu	37	7	142482242	142482242	+	RNA	SNP	G	G	A	rs143538588	by1000genomes	TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr7:142482242G>A	ENST00000603901.1	+	0	622					NR_001296.3																						GGTCTGCAATGGACAGCTTCA	0.493000													4	85					0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28986327	28986327	+	Silent	SNP	C	C	T			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr18:28986327C>T	ENST00000359747.4	+	12	1953	c.1924C>T	c.(1924-1926)Cta>Tta	p.L642L	DSG4_ENST00000308128.4_Silent_p.L642L|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	642					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GGGCATCCTGCTACTGATTTG	0.458000													23	89					0	0	1	0	0
DNM1P47	0	broad.mit.edu	37	15	102292770	102292770	+	RNA	SNP	C	C	T	rs149751844	by1000genomes	TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr15:102292770C>T	ENST00000561463.1	+	0	816																											AGCGGCGCGACGAGATGCTGC	0.597000													5	27					0	0	1	0	0
EVA1B	55194	broad.mit.edu	37	1	36788016	36788016	+	Silent	SNP	C	C	T			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr1:36788016C>T	ENST00000270824.1	-	3	669	c.378G>A	c.(376-378)gaG>gaA	p.E126E	EVA1B_ENST00000490466.1_5'UTR|SH3D21_ENST00000474766.1_3'UTR	NM_018166.1	NP_060636.1			eva-1 homolog B (C. elegans)																		GTTCGCGCTCCTCCAGCCGCT	0.746000													6	20					0	0	1	0	0
RIPK1	8737	broad.mit.edu	37	6	3113516	3113516	+	Silent	SNP	C	C	T			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr6:3113516C>T	ENST00000259808.4	+	11	2257	c.1959C>T	c.(1957-1959)ctC>ctT	p.L653L	RIPK1_ENST00000380409.2_Silent_p.L653L|RIPK1_ENST00000541791.1_Silent_p.L607L			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	653	Death.				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				CCCAGGCGCTCCACCAGTGTT	0.547000													5	47					0	0	1	0	0
POM121L9P	0	broad.mit.edu	37	22	24659593	24659593	+	RNA	SNP	C	C	T			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr22:24659593C>T	ENST00000414583.2	+	0	3118					NR_003714.1																						TCACTGACATCGAAGGCTGCC	0.632000													4	35					0	0	1	0	0
RP11-266K4.9	0	broad.mit.edu	37	12	8391338	8391338	+	RNA	SNP	T	T	C			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr12:8391338T>C	ENST00000304751.9	+	0	591				FAM86FP_ENST00000427893.2_RNA														p.K53R(1)									CACAGGATGCTTCACAGTCTA	0.527000													3	66					0	0	1	0	0
POM121L9P	0	broad.mit.edu	37	22	24659591	24659591	+	RNA	SNP	A	A	G			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr22:24659591A>G	ENST00000414583.2	+	0	3116					NR_003714.1																						ACTCACTGACATCGAAGGCTG	0.632000													4	37					0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46653656	46653656	+	Missense_Mutation	SNP	C	C	G			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr22:46653656C>G	ENST00000253255.5	-	1	5563	c.5564G>C	c.(5563-5565)gGa>gCa	p.G1855A		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1855					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ATAAGTAAATCCATTGGTACT	0.388000													31	121					0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14804406	14804406	+	Missense_Mutation	SNP	C	C	G			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr12:14804406C>G	ENST00000261170.3	-	15	1781	c.1645G>C	c.(1645-1647)Ggc>Cgc	p.G549R		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	549	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	p.G549C(1)		breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						TTCACTGTGCCGTAGAACTTG	0.403000													10	42					0	0	1	0	0
IFFO1	25900	broad.mit.edu	37	12	6657960	6657960	+	Missense_Mutation	SNP	C	C	T	rs149041603		TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr12:6657960C>T	ENST00000436152.2	-	7	750	c.191G>A	c.(190-192)cGc>cAc	p.R64H	IFFO1_ENST00000396840.2_Missense_Mutation_p.R368H|IFFO1_ENST00000356896.4_Missense_Mutation_p.R371H|IFFO1_ENST00000465801.1_Missense_Mutation_p.R64H|IFFO1_ENST00000336604.4_Missense_Mutation_p.R371H			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	368						intermediate filament				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						GGCAGCCTTGCGCTCCCGCTT	0.657000													3	31					0	0	1	0	0
IL27RA	9466	broad.mit.edu	37	19	14162942	14162942	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr19:14162942C>T	ENST00000263379.2	+	14	1876	c.1751C>T	c.(1750-1752)cCc>cTc	p.P584L		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	584					cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						GGGGACTTGCCCATCCTGGAA	0.652000													7	21					0	0	1	0	0
DPEP2	64174	broad.mit.edu	37	16	68024898	68024898	+	Missense_Mutation	SNP	C	C	A			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr16:68024898C>A	ENST00000412757.2	-	8	1400	c.735G>T	c.(733-735)aaG>aaT	p.K245N	DPEP2_ENST00000393847.1_Missense_Mutation_p.K245N|DPEP2_ENST00000572888.1_Missense_Mutation_p.K245N			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	245					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		CTGCCACCACCTTCTGCAGGG	0.527000													41	102					3.33635e-10	3.76227e-10	1	1	0
TPTE2	93492	broad.mit.edu	37	13	20056686	20056686	+	Splice_Site	SNP	T	T	C			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr13:20056686T>C	ENST00000400230.2	-	4	165	c.119_splice	c.e4-1	p.M41_splice	TPTE2_ENST00000382977.4_Splice_Site_p.M41_splice|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382978.1_Splice_Site_p.M41_splice|TPTE2_ENST00000400103.2_Splice_Site_p.M41_splice|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000382975.4_Splice_Site_p.M41_splice|TPTE2_ENST00000457266.2_Splice_Site_p.M41_splice			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	41						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CGTTCTAACATACTTTAGCCA	0.313000													4	66					0	0	1	0	0
ZNF614	80110	broad.mit.edu	37	19	52520088	52520088	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr19:52520088T>C	ENST00000270649.6	-	5	1307	c.763A>G	c.(763-765)Aca>Gca	p.T255A	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	255					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		ATTTTGTCTGTTGTATTAGTT	0.353000													15	53					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2161134	2161134	+	Missense_Mutation	SNP	A	A	C			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr16:2161134A>C	ENST00000262304.4	-	15	4242	c.4034T>G	c.(4033-4035)gTg>gGg	p.V1345G	PKD1_ENST00000423118.1_Missense_Mutation_p.V1345G	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1345	PKD 8.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GTTGTGTGTCACCGTCGGGCA	0.667000													18	45					0	0	1	0	0
PER2	8864	broad.mit.edu	37	2	239160327	239160327	+	Nonsense_Mutation	SNP	C	C	A			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr2:239160327C>A	ENST00000254657.3	-	20	3466	c.3187G>T	c.(3187-3189)Gag>Tag	p.E1063*	AC096574.4_ENST00000456601.1_RNA|PER2_ENST00000254658.3_3'UTR	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	1063					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		CAGAGGTCCTCATTCAGCAGG	0.607000													5	77					0.00116845	0.00121427	1	1	0
ZNF99	7652	broad.mit.edu	37	19	22951198	22951198	+	Silent	SNP	G	G	A	rs147397251		TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr19:22951198G>A	ENST00000397104.3	-	3	197	c.198C>T	c.(196-198)atC>atT	p.I66I	ZNF99_ENST00000596209.1_Silent_p.I45I					zinc finger protein 99									p.I66I(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TAGAGACAGCGATACCTGttt	0.333000													16	33					0	0	1	0	0
C6orf89	221477	broad.mit.edu	37	6	36887410	36887410	+	Silent	SNP	C	C	T			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr6:36887410C>T	ENST00000480824.2	+	8	1176	c.882C>T	c.(880-882)ctC>ctT	p.L294L	C6orf89_ENST00000373685.1_Silent_p.L294L|C6orf89_ENST00000355190.3_Silent_p.L301L|C6orf89_ENST00000510325.2_Silent_p.L188L|C6orf89_ENST00000359359.2_Silent_p.L188L			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	294						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						TGTTGCAGCTCATCCCTCCCT	0.532000													10	89					0	0	1	0	0
CDC25B	994	broad.mit.edu	37	20	3785591	3785591	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr20:3785591C>T	ENST00000245960.5	+	16	2423	c.1726C>T	c.(1726-1728)Cgg>Tgg	p.R576W	CDC25B_ENST00000344256.6_Missense_Mutation_p.R512W|CDC25B_ENST00000439880.2_Missense_Mutation_p.R562W|CDC25B_ENST00000379598.5_Missense_Mutation_p.R485W|CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000340833.4_Missense_Mutation_p.R535W	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	576					cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						GCTCTGTAGCCGGCTGCAGGA	0.672000													7	78					0	0	1	0	0
TPTE2	93492	broad.mit.edu	37	13	20056679	20056679	+	Missense_Mutation	SNP	T	T	G			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr13:20056679T>G	ENST00000400230.2	-	4	172	c.128A>C	c.(127-129)gAa>gCa	p.E43A	TPTE2_ENST00000382977.4_Missense_Mutation_p.E43A|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382978.1_Missense_Mutation_p.E43A|TPTE2_ENST00000400103.2_Missense_Mutation_p.E43A|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000382975.4_Missense_Mutation_p.E43A|TPTE2_ENST00000457266.2_Missense_Mutation_p.E43A			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	43						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.E43A(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		GGAAAGTCGTTCTAACATACT	0.313000													3	69					0	0	1	0	0
RNF13	11342	broad.mit.edu	37	3	149563860	149563860	+	Missense_Mutation	SNP	A	A	G			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr3:149563860A>G	ENST00000344229.3	+	3	749	c.47A>G	c.(46-48)tAc>tGc	p.Y16C	ANKUB1_ENST00000473672.1_5'UTR|RNF13_ENST00000392894.3_Missense_Mutation_p.Y16C	NM_007282.4	NP_009213.1	O43567	RNF13_HUMAN	ring finger protein 13	16					protein autoubiquitination	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			ACACAAGTCTACACCATCTTG	0.428000													17	50					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100680909	100680909	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr7:100680909C>T	ENST00000306151.4	+	3	6276	c.6212C>T	c.(6211-6213)tCc>tTc	p.S2071F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2071	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTGTTGACTCCAAAACTCAG	0.488000													83	215					0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12124160	12124160	+	Missense_Mutation	SNP	A	A	G	rs147240117	by1000genomes	TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr6:12124160A>G	ENST00000379388.2	+	4	4464	c.4132A>G	c.(4132-4134)Atg>Gtg	p.M1378V		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1378					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GCAAACGTCAATGGAGGTCTC	0.468000													12	97					0	0	1	0	0
PRSS3P2	0	broad.mit.edu	37	7	142482229	142482229	+	RNA	SNP	T	T	A	rs145494190	by1000genomes	TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr7:142482229T>A	ENST00000603901.1	+	0	609					NR_001296.3													p.P203P(1)									CTGGTGGCCCTGTGGTCTGCA	0.493000													4	82					0	0	1	0	0
PCDHB10	0	broad.mit.edu	37	5	140574345	140574345	+	Silent	SNP	C	C	T	rs146513187	byFrequency	TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr5:140574345C>T	ENST00000239446.4	+	1	2404	c.2220C>T	c.(2218-2220)gaC>gaT	p.D740D		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		740					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATCTGGTGGACGTGAGGGGCG	0.627000													5	189					0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19565661	19565661	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr20:19565661C>T	ENST00000328041.6	+	5	667	c.470C>T	c.(469-471)gCg>gTg	p.A157V		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	157						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TTCATGGCAGCGGGAAGTTCG	0.547000													5	98					0	0	1	0	0
RXRG	6258	broad.mit.edu	37	1	165414095	165414095	+	Silent	SNP	G	G	T			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr1:165414095G>T	ENST00000359842.5	-	1	338	c.36C>A	c.(34-36)ccC>ccA	p.P12P		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	12	Modulating (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	CATAGCCTGCGGGAAACTTCA	0.448000													8	44					1.26484e-09	1.3966e-09	1	1	0
RSAD1	55316	broad.mit.edu	37	17	48559551	48559551	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr17:48559551G>A	ENST00000258955.2	+	4	659	c.574G>A	c.(574-576)Gtg>Atg	p.V192M		NM_018346.1	NP_060816.1	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing 1	192					porphyrin biosynthetic process	mitochondrion	4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding	p.V192M(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			TCCCGGGCGCGTGTCTGTAGA	0.667000											OREG0024567	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	39	76					0	0	1	0	0
BNC2	54796	broad.mit.edu	37	9	16436741	16436741	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr9:16436741C>T	ENST00000380672.4	-	6	1508	c.1451G>A	c.(1450-1452)cGa>cAa	p.R484Q	BNC2_ENST00000380666.2_Missense_Mutation_p.R484Q|BNC2_ENST00000545497.1_Missense_Mutation_p.R389Q|BNC2_ENST00000380667.2_Missense_Mutation_p.R417Q	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	484					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		ATTACGACTTCGGAGGGAGCT	0.448000													10	105					0	0	1	0	0
ASXL1	171023	broad.mit.edu	37	20	31023729	31023729	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr20:31023729G>A	ENST00000375687.4	+	13	3638	c.3214G>A	c.(3214-3216)Gtc>Atc	p.V1072I	ASXL1_ENST00000306058.5_Missense_Mutation_p.V1067I	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	1072					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						AGTATGTGCGGTCCGCCAAAA	0.567000			"""F, N, Mis"""		"""MDS, CMML"""								4	179					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11058168	11058168	+	RNA	SNP	A	A	T			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr21:11058168A>T	ENST00000470054.1	-	0	479									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TACATCTTTCAGGAGCTTGGT	0.388000													5	108					0	0	1	0	0
GDNF	2668	broad.mit.edu	37	5	37816139	37816139	+	Missense_Mutation	SNP	C	C	A			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr5:37816139C>A	ENST00000326524.2	-	3	449	c.250G>T	c.(250-252)Gca>Tca	p.A84S	GDNF_ENST00000515058.1_Missense_Mutation_p.A58S|GDNF_ENST00000381826.4_Missense_Mutation_p.A75S|GDNF_ENST00000344622.4_Missense_Mutation_p.A58S|GDNF_ENST00000427982.1_Missense_Mutation_p.A101S	NM_000514.3	NP_000505.1	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor	84					adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					GGAAGCACTGCCATTTGTTTA	0.483000													11	93					5.50884e-06	5.83937e-06	1	1	0
APOB	338	broad.mit.edu	37	2	21232902	21232902	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr2:21232902G>A	ENST00000233242.1	-	26	6965	c.6838C>T	c.(6838-6840)Cac>Tac	p.H2280Y		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2280					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CCAGCTAGGTGCTGGATGTCT	0.348000													39	89					0	0	1	0	0
CERS2	29956	broad.mit.edu	37	1	150938748	150938748	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr1:150938748C>T	ENST00000271688.6	-	11	1405	c.1019G>A	c.(1018-1020)cGc>cAc	p.R340H	CERS2_ENST00000368954.5_Missense_Mutation_p.R340H|CERS2_ENST00000561294.1_Intron|CERS2_ENST00000345896.4_5'UTR	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN	ceramide synthase 2	340						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										CCGGTCACTGCGTTCATCTTC	0.542000													25	62					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155572137	155572137	+	Missense_Mutation	SNP	C	C	A			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr6:155572137C>A	ENST00000461783.3	+	24	5315	c.4042C>A	c.(4042-4044)Ctt>Att	p.L1348I	TIAM2_ENST00000318981.5_Missense_Mutation_p.L1348I|TIAM2_ENST00000275246.7_Missense_Mutation_p.L273I|TIAM2_ENST00000367174.2_Missense_Mutation_p.L724I|TIAM2_ENST00000529824.2_Missense_Mutation_p.L1377I|TIAM2_ENST00000456144.1_Missense_Mutation_p.L1377I|TIAM2_ENST00000528391.2_Missense_Mutation_p.L684I|TIAM2_ENST00000360366.4_Missense_Mutation_p.L1372I|TIAM2_ENST00000456877.2_Missense_Mutation_p.L660I			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1348	PH 2.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TAGAAAGGACCTTGAGCTCAC	0.453000													32	95					1.99505e-19	2.29865e-19	1	1	0
HTR2B	3357	broad.mit.edu	37	2	231988403	231988403	+	Missense_Mutation	SNP	C	C	G			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr2:231988403C>G	ENST00000258400.3	-	2	588	c.76G>C	c.(76-78)Gtt>Ctt	p.V26L	PSMD1_ENST00000308696.6_Intron|PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000409643.1_Intron	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	26					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)	GAAGAGATAACGTGAACAAAG	0.418000													12	146					0	0	1	0	0
RGS3	5998	broad.mit.edu	37	9	116356367	116356367	+	Silent	SNP	C	C	G			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr9:116356367C>G	ENST00000462403.1	+	1	602	c.168C>G	c.(166-168)ctC>ctG	p.L56L	RGS3_ENST00000350696.5_Intron|RGS3_ENST00000462143.1_Intron|RGS3_ENST00000374134.3_Intron|RGS3_ENST00000374140.2_Intron|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000343817.5_Intron|RGS3_ENST00000342620.5_Intron	NM_144489.2	NP_652760.2	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	0					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TTTCCTGGCTCCTCCTGTCTG	0.612000													33	212					0	0	1	0	0
ALDH4A1	8659	broad.mit.edu	37	1	19203914	19203914	+	Frame_Shift_Del	DEL	C	C	-			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr1:19203914delC	ENST00000375341.3	-	10	1390	c.1133delG	c.(1132-1134)gcfs	p.G378fs	ALDH4A1_ENST00000290597.5_Frame_Shift_Del_p.G378fs|ALDH4A1_ENST00000538839.1_Frame_Shift_Del_p.G378fs|ALDH4A1_ENST00000538309.1_Frame_Shift_Del_p.G318fs|RP13-279N23.2_ENST00000494072.3_3'UTR	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	378					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	ACTCACGTCGCCCACTTTGAT	0.701													2	4	---	---	---	---					
CHDH	55349	broad.mit.edu	37	3	53852145	53852145	+	Frame_Shift_Del	DEL	G	G	-			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr3:53852145delG	ENST00000315251.5	-	9	1881	c.1444delC	c.(1444-1446)gafs	p.R482fs		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase	482					alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	TCTTTCCCTCGGAACGGAGCC	0.522													17	103	---	---	---	---					
RP11-324C10.1	0	broad.mit.edu	37	3	172992494	172992494	+	RNA	DEL	C	C	-	rs79222726		TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr3:172992494delC	ENST00000447709.1	+	0	216																											aacaaacaaacaaaaacatgt	0.512													4	3	---	---	---	---					
C6	729	broad.mit.edu	37	5	41181559	41181560	+	Frame_Shift_Ins	INS	-	-	C			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr5:41181559_41181560insC	ENST00000263413.3	-	7	1092_1093	c.828_829insG	c.(826-831)gggctcfs	p.L277fs	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Frame_Shift_Ins_p.L277fs	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	277	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTGAAAGAGCTCCCCCCCTGAC	0.376													8	82	---	---	---	---					
LMAN2	10960	broad.mit.edu	37	5	176778547	176778547	+	Frame_Shift_Del	DEL	A	A	-			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr5:176778547delA	ENST00000303127.7	-	1	306	c.102delT	c.(100-102)ttfs	p.F34fs	LMAN2_ENST00000506310.1_5'UTR|LMAN2_ENST00000515209.1_Frame_Shift_Del_p.F34fs	NM_006816.2	NP_006807.1	Q12907	LMAN2_HUMAN	lectin, mannose-binding 2	34					protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	metal ion binding|sugar binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACAAAAGAAGAAAGAGAGGTG	0.602													11	51	---	---	---	---					
BTN2A3P	0	broad.mit.edu	37	6	26422388	26422390	+	RNA	DEL	CCT	CCT	-	rs113134648		TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr6:26422388_26422390delCCT	ENST00000466808.2	+	0	42_44																											GGCCAGCCTCCCTCCTCCTCCTC	0.586													9	197	---	---	---	---					
BNC2	54796	broad.mit.edu	37	9	16436375	16436375	+	Frame_Shift_Del	DEL	G	G	-	rs116528562	byFrequency	TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr9:16436375delG	ENST00000380672.4	-	6	1874	c.1817delC	c.(1816-1818)cgfs	p.P608fs	BNC2_ENST00000380666.2_Frame_Shift_Del_p.P608fs|BNC2_ENST00000545497.1_Frame_Shift_Del_p.P513fs|BNC2_ENST00000380667.2_Frame_Shift_Del_p.P541fs	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	608	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		AGAGGGTGGCGGGGGGTGCTG	0.562													28	127	---	---	---	---					
KANK3	256949	broad.mit.edu	37	19	8398950	8398961	+	In_Frame_Del	DEL	TCGCTGTCGCCA	TCGCTGTCGCCA	-	rs111751275		TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	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													3	4	---	---	---	---					
SLC19A1	6573	broad.mit.edu	37	21	46950724	46950727	+	Frame_Shift_Del	DEL	GCAC	GCAC	-			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr21:46950724_46950727delGCAC	ENST00000311124.4	-	4	1260_1263	c.1108_1111delGTGC	c.(1108-1113)tgfs	p.VL370fs	SLC19A1_ENST00000380010.4_Frame_Shift_Del_p.VL370fs|SLC19A1_ENST00000485649.2_Frame_Shift_Del_p.VL330fs|SLC19A1_ENST00000567670.1_Frame_Shift_Del_p.VL370fs	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	370					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		CCGCGGAACAGCACGAAGGCCGCA	0.696													3	4	---	---	---	---