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
COL5A1	1289	broad.mit.edu	37	9	137622098	137622098	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr9:137622098C>A	ENST00000371817.3	+	7	1355	c.941C>A	c.(940-942)cCc>cAc	p.P314H		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	314	Nonhelical region.				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)		ACCCCGACCCCCACGGAAGCT	0.642000													11	87					3.86212e-05	4.301e-05	1	1	0
NRAP	4892	broad.mit.edu	37	10	115391714	115391714	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr10:115391714T>C	ENST00000369358.4	-	17	1886	c.1642A>G	c.(1642-1644)Aaa>Gaa	p.K548E	NRAP_ENST00000360478.3_Missense_Mutation_p.K513E|NRAP_ENST00000369360.3_Missense_Mutation_p.K513E|NRAP_ENST00000359988.3_Missense_Mutation_p.K548E			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	548						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	p.K548E(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CAGCCTTCTTTATACTTAACC	0.443000													6	24					0	0	1	0	0
MSTN	2660	broad.mit.edu	37	2	190922014	190922014	+	Silent	SNP	C	C	T			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr2:190922014C>T	ENST00000260950.4	-	3	1230	c.1098G>A	c.(1096-1098)gcG>gcA	p.A366A	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	366					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			CTACTACCATCGCTGGAATTT	0.393000													5	43					0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103318897	103318897	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr2:103318897C>A	ENST00000233969.2	+	9	1923	c.1781C>A	c.(1780-1782)aCg>aAg	p.T594K	SLC9A2_ENST00000469286.1_3'UTR	NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	594						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						AGGAAGGTCACGTCCAGTGAA	0.303000													5	79					0.000602214	0.000627841	1	1	0
PAGE2B	389860	broad.mit.edu	37	X	55103899	55103899	+	Silent	SNP	T	T	A			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chrX:55103899T>A	ENST00000374971.1	+	4	313	c.261T>A	c.(259-261)ggT>ggA	p.G87G	PAGE2B_ENST00000374974.3_Silent_p.G70G	NM_001015038.1	NP_001015038.1	Q5JRK9	GGEE3_HUMAN	P antigen family, member 2B	87										lung(3)	3						CTGGAGATGGTCCTGATGTCA	0.398000													11	93					0	0	1	0	0
CORO7	79585	broad.mit.edu	37	16	4408455	4408455	+	Silent	SNP	G	G	A			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr16:4408455G>A	ENST00000251166.4	-	24	2515	c.2370C>T	c.(2368-2370)tgC>tgT	p.C790C	CORO7-PAM16_ENST00000572274.1_5'UTR|CORO7_ENST00000574025.1_Silent_p.C705C|CORO7_ENST00000537233.2_Silent_p.C772C|CORO7-PAM16_ENST00000572467.1_Silent_p.C790C|CORO7_ENST00000539968.1_Silent_p.C570C	NM_024535.4	NP_078811.3			coronin 7									p.C790C(1)		breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						CCCGCACGTCGCACTCCGTCT	0.692000													3	23					0	0	1	0	0
CLK1	1195	broad.mit.edu	37	2	201722751	201722751	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr2:201722751G>A	ENST00000434813.2	-	6	1070	c.736C>T	c.(736-738)Cgc>Tgc	p.R246C	CLK1_ENST00000321356.4_Missense_Mutation_p.R204C|CLK1_ENST00000409769.2_Missense_Mutation_p.R27C	NM_001162407.1	NP_001155879.1	P49759	CLK1_HUMAN	CDC-like kinase 1	204	Protein kinase.				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						ATTTCTGAGCGAGCAGCTTCA	0.368000													4	110					0	0	1	0	0
TUBB8P7	0	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	by1000genomes	TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr16:90161926T>C	ENST00000567960.1	+	0	662				TUBB8P7_ENST00000564451.1_RNA														p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527000													4	26					0	0	1	0	0
UBR2	23304	broad.mit.edu	37	6	42600572	42600572	+	Nonsense_Mutation	SNP	G	G	A			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr6:42600572G>A	ENST00000372899.1	+	13	1733	c.1475G>A	c.(1474-1476)tGg>tAg	p.W492*	UBR2_ENST00000372901.1_Nonsense_Mutation_p.W492*|UBR2_ENST00000372883.3_5'UTR	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	492					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			CCAACTGAATGGTCAGATGAG	0.333000													10	27					0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133152366	133152366	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr8:133152366C>T	ENST00000388996.4	-	11	1945	c.1525G>A	c.(1525-1527)Gaa>Aaa	p.E509K	KCNQ3_ENST00000519445.1_Missense_Mutation_p.E509K|KCNQ3_ENST00000521134.1_Missense_Mutation_p.E389K	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	509					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			ATCATGTCTTCGATGGGGAAG	0.627000													16	13					0	0	1	0	0
RFX3	5991	broad.mit.edu	37	9	3330293	3330293	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr9:3330293G>A	ENST00000382004.3	-	5	751	c.440C>T	c.(439-441)tCa>tTa	p.S147L	RFX3_ENST00000302303.1_Missense_Mutation_p.S147L|RFX3_ENST00000358730.2_Missense_Mutation_p.S147L	NM_134428.1	NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	147					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		GTGTGTCACTGAGTGACCAGA	0.453000													5	50					0	0	1	0	0
AGAP6	414189	broad.mit.edu	37	10	51754173	51754173	+	Missense_Mutation	SNP	G	G	T			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr10:51754173G>T	ENST00000374056.4	+	3	709	c.311G>T	c.(310-312)aGc>aTc	p.S104I	AGAP6_ENST00000412531.3_Missense_Mutation_p.S127I			C9IYN2	C9IYN2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	127					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.S127I(2)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						ATAAGAAGAAGCAACTGTACA	0.269000													4	49					0.184627	0.184627	1	1	0
ECHS1	1892	broad.mit.edu	37	10	135180423	135180423	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr10:135180423G>A	ENST00000368547.3	-	5	944	c.589C>T	c.(589-591)Cgg>Tgg	p.R197W		NM_004092.3	NP_004083.3	P30084	ECHM_HUMAN	enoyl CoA hydratase, short chain, 1, mitochondrial	197				R -> A (in Ref. 1; BAA03001).	fatty acid beta-oxidation	mitochondrial matrix	enoyl-CoA hydratase activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	10		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)		GCTGAGATCCGGTCACCAGTG	0.667000													4	38					0	0	1	0	0
GEMIN4	50628	broad.mit.edu	37	17	650797	650797	+	Silent	SNP	G	G	A	rs61753061	by1000genomes	TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr17:650797G>A	ENST00000576778.1	-	1	1794	c.453C>T	c.(451-453)gaC>gaT	p.D151D	GEMIN4_ENST00000319004.5_Silent_p.D162D|GEMIN4_ENST00000437269.1_Silent_p.D162D			P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	162					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CCCACCAGACGTCCAGGAAGA	0.567000													6	98					0	0	1	0	0
WDPCP	51057	broad.mit.edu	37	2	63666959	63666959	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr2:63666959G>A	ENST00000409562.3	-	7	677	c.431C>T	c.(430-432)cCg>cTg	p.P144L	WDPCP_ENST00000272321.7_Missense_Mutation_p.P144L|WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000409120.1_5'UTR|WDPCP_ENST00000409199.1_Intron			O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	144					cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						CTCCAGCTGCGGCCCAGAAAG	0.493000													14	62					0	0	1	0	0
RWDD3	25950	broad.mit.edu	37	1	95712099	95712099	+	Splice_Site	SNP	A	A	G			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr1:95712099A>G	ENST00000370202.4	+	3	651	c.573_splice	c.e3-1	p.E192_splice	RWDD3_ENST00000263893.6_Intron|RWDD3_ENST00000495272.1_3'UTR|RP11-57H12.5_ENST00000444665.1_RNA	NM_001199682.1|NM_015485.4	NP_001186611.1|NP_056300.2	Q9Y3V2	RWDD3_HUMAN	RWD domain containing 3	192						cytoplasm|nucleus	protein binding			kidney(1)|large_intestine(2)|lung(6)|ovary(1)	10		all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769)		all cancers(265;0.112)|Epithelial(280;0.229)		ATTATTTAGGAGTACTTGATT	0.328000													8	33					0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72055491	72055491	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr14:72055491A>G	ENST00000555818.1	+	2	1250	c.902A>G	c.(901-903)aAt>aGt	p.N301S	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.N301S|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.N301S	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	301					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		AAATTGCGCAATGCCAAAGGT	0.438000													14	40					0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55107307	55107307	+	Missense_Mutation	SNP	C	C	A	rs139230831	byFrequency	TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr19:55107307C>A	ENST00000251372.3	+	6	1047	c.865C>A	c.(865-867)Cgc>Agc	p.R289S	LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000448689.1_Intron	NM_006863.1	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	289	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CCCTGTGAGCCGCTCCTACGG	0.642000													7	40					0.000157383	0.000171373	1	1	0
SPTAN1	6709	broad.mit.edu	37	9	131370160	131370160	+	Silent	SNP	T	T	G			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr9:131370160T>G	ENST00000372739.3	+	33	4286	c.4176T>G	c.(4174-4176)gcT>gcG	p.A1392A	SPTAN1_ENST00000372731.4_Silent_p.A1392A|SPTAN1_ENST00000358161.5_Silent_p.A1392A	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1392					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						ATGCCAGGGCTGGCACTTTCC	0.537000													7	57					0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156734872	156734872	+	Splice_Site	SNP	A	A	T			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr5:156734872A>T	ENST00000347377.6	+	9	1330	c.900_splice	c.e9+1	p.K300_splice	CYFIP2_ENST00000377576.3_Splice_Site_p.K300_splice|CYFIP2_ENST00000318218.6_Splice_Site_p.K300_splice|CYFIP2_ENST00000521420.1_Splice_Site_p.K274_splice|CYFIP2_ENST00000541131.1_Splice_Site_p.K225_splice|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000522463.1_Splice_Site_p.K104_splice	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	300					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AAATTCTTTAAGGTCAGCAAC	0.453000													4	4					0	0	1	0	0
SP140L	93349	broad.mit.edu	37	2	231264887	231264887	+	Missense_Mutation	SNP	C	C	G			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr2:231264887C>G	ENST00000243810.6	+	15	1243	c.1243C>G	c.(1243-1245)Ctg>Gtg	p.L415V	SP140L_ENST00000415673.2_Missense_Mutation_p.L415V|SP140L_ENST00000396563.4_Missense_Mutation_p.L380V|SP140L_ENST00000444636.1_Missense_Mutation_p.L415V			Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	415						nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						CGGAGGGGAGCTGTTCTGTTG	0.502000													3	55					0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100841761	100841761	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr6:100841761G>A	ENST00000369208.3	-	11	1954	c.1172C>T	c.(1171-1173)tCg>tTg	p.S391L	SIM1_ENST00000262901.4_Missense_Mutation_p.S391L			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	391	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GTGAAATCCCGAATACTGAAA	0.463000													3	34					0	0	1	0	0
ASMT	438	broad.mit.edu	37	X	1748782	1748782	+	Missense_Mutation	SNP	T	T	G			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chrX:1748782T>G	ENST00000381241.3	+	5	711	c.512T>G	c.(511-513)gTg>gGg	p.V171G	RP13-297E16.3_ENST00000509780.1_RNA|ASMT_ENST00000381233.3_Missense_Mutation_p.V171G|ASMT_ENST00000381229.4_Missense_Mutation_p.V171G	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	171					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGGAGAAGCGTGCTGACCGCC	0.552000													4	89					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	151095894	151095894	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr3:151095894G>C	ENST00000474524.1	+	29	4344	c.4306G>C	c.(4306-4308)Gag>Cag	p.E1436Q	MED12L_ENST00000273432.4_Missense_Mutation_p.E1296Q|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1436					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CGCTGGGGAAGAGCTGGAGAA	0.537000													6	37					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168104430	168104430	+	Silent	SNP	C	C	T			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr2:168104430C>T	ENST00000409195.1	+	9	6617	c.6528C>T	c.(6526-6528)taC>taT	p.Y2176Y	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Silent_p.Y1954Y|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Silent_p.Y2176Y|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2001	Pro-rich.				actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAGGAACTTACGACCTTTCAG	0.363000													12	48					0	0	1	0	0
TBX3	6926	broad.mit.edu	37	12	115118827	115118827	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr12:115118827C>A	ENST00000349155.2	-	2	1477	c.514G>T	c.(514-516)Gtg>Ttg	p.V172L	TBX3_ENST00000257566.3_Missense_Mutation_p.V172L	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN	T-box 3	172					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		TTACCAGCCACCATCCACCGA	0.468000													14	62					2.61681e-11	2.98195e-11	1	1	0
ST6GAL2	84620	broad.mit.edu	37	2	107460268	107460268	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr2:107460268C>T	ENST00000409382.3	-	2	776	c.166G>A	c.(166-168)Ggg>Agg	p.G56R	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.G56R|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.G56R	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	56					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CGCTGCTTCCCCTGCACCGGC	0.672000													5	19					0	0	1	0	0
TUBB8P7	0	broad.mit.edu	37	16	90161902	90161902	+	RNA	SNP	A	A	G	rs6500471	by1000genomes	TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr16:90161902A>G	ENST00000567960.1	+	0	638				TUBB8P7_ENST00000564451.1_RNA														p.K213R(8)									ATATGTTCCAAGACCCTAAAA	0.537000													5	28					0	0	1	0	0
ITPRIP	85450	broad.mit.edu	37	10	106075183	106075183	+	Missense_Mutation	SNP	G	G	T			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr10:106075183G>T	ENST00000278071.2	-	3	1079	c.627C>A	c.(625-627)caC>caA	p.H209Q	ITPRIP_ENST00000337478.1_Missense_Mutation_p.H209Q|ITPRIP_ENST00000358187.2_Missense_Mutation_p.H209Q	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	209						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						GCACGAAAAGGTGGCACAGCA	0.647000													4	49					0.00909568	0.00928517	1	1	0
CIT	11113	broad.mit.edu	37	12	120166306	120166306	+	Splice_Site	SNP	C	C	T			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr12:120166306C>T	ENST00000392521.2	-	28	3647		c.e28+1		CIT_ENST00000537607.1_Splice_Site|CIT_ENST00000261833.7_Splice_Site	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)						intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TTCACACTCACCTCTTCCAGA	0.438000													8	244					0	0	1	0	0
CCNL2	81669	broad.mit.edu	37	1	1330837	1330837	+	Translation_Start_Site	SNP	T	T	C			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr1:1330837T>C	ENST00000408952.5	-	0	152				CCNL2_ENST00000400809.3_Missense_Mutation_p.I177M|CCNL2_ENST00000408918.4_Missense_Mutation_p.I177M			Q96S94	CCNL2_HUMAN	cyclin L2						regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		TTTCCGCCTTTATAATTTGGT	0.512000													5	46					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152327955	152327955	+	Silent	SNP	G	G	A			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr1:152327955G>A	ENST00000388718.5	-	3	2379	c.2307C>T	c.(2305-2307)agC>agT	p.S769S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	769	Ser-rich.						calcium ion binding|structural molecule activity	p.S769S(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTGGCCATAGCTAGACTGAC	0.517000													7	295					0	0	1	0	0
LRIG2	9860	broad.mit.edu	37	1	113636080	113636080	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr1:113636080G>A	ENST00000361127.4	+	4	607	c.409G>A	c.(409-411)Gca>Aca	p.A137T		NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	137						cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		AGAAATAAATGCACAGGCACT	0.388000													4	68					0	0	1	0	0
CEP104	9731	broad.mit.edu	37	1	3745933	3745933	+	Missense_Mutation	SNP	C	C	T	rs140499832		TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr1:3745933C>T	ENST00000378230.3	-	15	2372	c.2048G>A	c.(2047-2049)cGg>cAg	p.R683Q		NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	683						centriole	binding			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						CGCTTTTCTCCGTGCCTGGTA	0.358000													10	35					0	0	1	0	0
HEXDC	284004	broad.mit.edu	37	17	80395185	80395185	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr17:80395185C>T	ENST00000337014.6	+	8	1319	c.845C>T	c.(844-846)gCg>gTg	p.A282V	HEXDC_ENST00000577944.1_Missense_Mutation_p.A282V|HEXDC_ENST00000327949.9_Missense_Mutation_p.A282V	NM_173620.2	NP_775891.2	Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	282					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CTGCAGGTGGCGGGCAGCGGG	0.682000													3	50					0	0	1	0	0
ANO5	203859	broad.mit.edu	37	11	22294405	22294405	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr11:22294405T>C	ENST00000324559.8	+	19	2422	c.2105T>C	c.(2104-2106)aTt>aCt	p.I702T	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	702						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATAAATAATATTGTAGAGATT	0.378000													15	56					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192946	132192946	+	Silent	SNP	G	G	C			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr7:132192946G>C	ENST00000359827.3	-	2	1469	c.507C>G	c.(505-507)gtC>gtG	p.V169V	PLXNA4_ENST00000321063.4_Silent_p.V169V|PLXNA4_ENST00000378539.5_Silent_p.V169V|PLXNA4_ENST00000423507.2_Silent_p.V169V			Q9HCM2	PLXA4_HUMAN	plexin A4	169	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TCACTCCAAAGACTGAGCCGC	0.547000													8	38					0	0	1	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30904042	30904042	+	Missense_Mutation	SNP	C	C	G			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr12:30904042C>G	ENST00000251071.5	-	2	1196	c.446G>C	c.(445-447)cGc>cCc	p.R149P	CAPRIN2_ENST00000417045.1_Missense_Mutation_p.R149P|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.R149P|CAPRIN2_ENST00000395805.2_Missense_Mutation_p.R149P|CAPRIN2_ENST00000308433.5_5'UTR	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	149					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					ACTTTTCAGGCGATCCTTATA	0.358000													4	79					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55541829	55541829	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr8:55541829C>T	ENST00000220676.1	+	4	5535	c.5387C>T	c.(5386-5388)aCg>aTg	p.T1796M		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1796					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.T1796M(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCAGGCCCAACGATGGATGAA	0.448000													10	16					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62839353	62839353	+	Silent	SNP	A	A	G			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr20:62839353A>G	ENST00000536311.1	+	7	1168	c.804A>G	c.(802-804)gaA>gaG	p.E268E	MYT1_ENST00000328439.1_Silent_p.E268E|MYT1_ENST00000360149.4_Intron			Q01538	MYT1_HUMAN	myelin transcription factor 1	268	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E268E(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					aggaggaggaagaggaggagg	0.572000													3	5					0	0	1	0	0
RAB6C	84084	broad.mit.edu	37	2	130738444	130738444	+	Silent	SNP	G	G	C			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr2:130738444G>C	ENST00000410061.2	+	1	1210	c.756G>C	c.(754-756)tcG>tcC	p.S252S		NM_032144.2	NP_115520.2	Q9H0N0	RAB6C_HUMAN	RAB6C, member RAS oncogene family	252					protein transport|response to drug|small GTPase mediated signal transduction		GTP binding|GTPase activity			large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	5	Colorectal(110;0.1)					TGCCTGTCTCGTGGAGGTGAT	0.368000													5	81					0	0	1	0	0
MAST3	23031	broad.mit.edu	37	19	18255926	18255926	+	Silent	SNP	C	C	T			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr19:18255926C>T	ENST00000262811.5	+	23	2839	c.2839C>T	c.(2839-2841)Ctg>Ttg	p.L947L	AC007192.6_ENST00000600364.1_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	947							ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						GTGTGGCAGCCTGCGGCCCCC	0.657000													9	89					0	0	1	0	0
CCNL2	81669	broad.mit.edu	37	1	1334009	1334017	+	In_Frame_Del	DEL	AAAAGAACC	AAAAGAACC	-			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr1:1334009_1334017delAAAAGAACC	ENST00000400809.3	-	2	328_336	c.323_331delGGTTCTTTT	c.(322-333)cat>c	p.RFFY108del	CCNL2_ENST00000408918.4_In_Frame_Del_p.RFFY108del	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	108	Cyclin-like 1.				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		GACTTGGTATAAAAGAACCGCTGGAACAA	0.488													8	44	---	---	---	---					
PRDM16	63976	broad.mit.edu	37	1	3342784	3342784	+	Frame_Shift_Del	DEL	G	G	-			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr1:3342784delG	ENST00000378398.3	+	15	3361	c.3279delG	c.(3277-3279)gafs	p.E1093fs	PRDM16_ENST00000514189.1_Frame_Shift_Del_p.E1093fs|PRDM16_ENST00000511072.1_Frame_Shift_Del_p.E1094fs|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000442529.2_Frame_Shift_Del_p.E1092fs|PRDM16_ENST00000441472.2_Frame_Shift_Del_p.E1092fs|PRDM16_ENST00000378391.2_Frame_Shift_Del_p.E1093fs|PRDM16_ENST00000270722.5_Frame_Shift_Del_p.E1093fs			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	1093	Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CGCGAACAGAGAAACGGTAAG	0.512			T	EVI1	"""MDS, AML"""								8	42	---	---	---	---					
FLG	2312	broad.mit.edu	37	1	152282031	152282031	+	Frame_Shift_Del	DEL	G	G	-	rs145158439	byFrequency	TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr1:152282031delG	ENST00000368799.1	-	3	5366	c.5331delC	c.(5329-5331)tcfs	p.S1777fs	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1777	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCCATGGGCGGACTCAGACT	0.607									Ichthyosis				23	202	---	---	---	---					
TPTE2P1	0	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282																											AGGAAGGTTCTAAAAAAAATTT	0.252													3	3	---	---	---	---					
RB1	5925	broad.mit.edu	37	13	48941695	48941696	+	Frame_Shift_Ins	INS	-	-	T			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr13:48941695_48941696insT	ENST00000267163.4	+	10	1143_1144	c.1005_1006insT	c.(1003-1008)ttttttfs	p.FF335fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	335					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(7)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATGCAAGATTATTTTTGGATCA	0.277		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			27	90	---	---	---	---					
DOCK6	57572	broad.mit.edu	37	19	11354024	11354024	+	Frame_Shift_Del	DEL	C	C	-			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr19:11354024delC	ENST00000294618.7	-	12	1307	c.1296delG	c.(1294-1296)ggfs	p.G432fs		NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	432					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GGTCCTGGGGCCCCCGACGGC	0.627											OREG0025252	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---