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
MAST2	23139	broad.mit.edu	37	1	46497980	46497980	+	Silent	SNP	C	C	T			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr1:46497980C>T	ENST00000361297.2	+	25	3601	c.3318C>T	c.(3316-3318)atC>atT	p.I1106I	MAST2_ENST00000372009.2_Intron	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	1106	PDZ.				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CTCCCATCATCATCCACCGAG	0.572													4	117	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103544235	103544235	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr1:103544235G>A	ENST00000358392.2	-	3	784	c.467C>T	c.(466-468)aCt>aTt	p.T156I	COL11A1_ENST00000512756.1_Missense_Mutation_p.T156I|COL11A1_ENST00000353414.4_Missense_Mutation_p.T156I|COL11A1_ENST00000370096.3_Missense_Mutation_p.T156I	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	156	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.T156I(2)|p.T156S(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GATGTTAACAGTTCTGAAGAG	0.368													68	88	---	---	---	---
KIF14	9928	broad.mit.edu	37	1	200587742	200587742	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr1:200587742T>G	ENST00000367350.4	-	2	548	c.110A>C	c.(109-111)aAg>aCg	p.K37T		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	37	Required for PRC1-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding	p.K37T(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						CAAATGCAGCTTAAGTCGGCT	0.368													48	161	---	---	---	---
LGR6	59352	broad.mit.edu	37	1	202245638	202245638	+	Silent	SNP	C	C	T			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr1:202245638C>T	ENST00000367278.3	+	5	722	c.633C>T	c.(631-633)agC>agT	p.S211S	LGR6_ENST00000308543.3_3'UTR|LGR6_ENST00000255432.7_Silent_p.S159S|LGR6_ENST00000439764.2_Intron	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	211						integral to membrane|plasma membrane	protein-hormone receptor activity	p.S211S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						ATCTCACCAGCCTTGTGGTGC	0.617													12	19	---	---	---	---
STAMBP	10617	broad.mit.edu	37	2	74072296	74072296	+	Silent	SNP	A	A	G			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr2:74072296A>G	ENST00000394070.2	+	4	785	c.282A>G	c.(280-282)aaA>aaG	p.K94K	STAMBP_ENST00000394073.1_Silent_p.K94K|STAMBP_ENST00000409707.1_Silent_p.K94K|STAMBP_ENST00000339566.3_Silent_p.K94K|STAMBP_ENST00000536064.1_Silent_p.K94K	NM_213622.2	NP_998787.1	O95630	STABP_HUMAN	STAM binding protein	94	Interaction with CHMP3.				JAK-STAT cascade|positive regulation of cell proliferation	early endosome|membrane|nucleus	metal ion binding|metallopeptidase activity|protein binding	p.K94K(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						TGTCTCAGAAATTAAAGGAGA	0.343													41	53	---	---	---	---
HJURP	55355	broad.mit.edu	37	2	234756069	234756069	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr2:234756069C>G	ENST00000411486.2	-	5	441	c.376G>C	c.(376-378)Gaa>Caa	p.E126Q	HJURP_ENST00000432087.1_Intron|HJURP_ENST00000441687.1_Intron	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	126					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding	p.E126Q(1)		NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		ACTGACTCTTCCTGGTCTGAC	0.488													7	128	---	---	---	---
SUMF1	285362	broad.mit.edu	37	3	4458835	4458835	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr3:4458835C>T	ENST00000272902.5	-	6	852	c.817G>A	c.(817-819)Gat>Aat	p.D273N	SUMF1_ENST00000534863.1_Missense_Mutation_p.D273N|SUMF1_ENST00000458465.2_Intron|SUMF1_ENST00000383843.5_Missense_Mutation_p.D248N|SUMF1_ENST00000405420.2_Missense_Mutation_p.D273N	NM_182760.3	NP_877437.2	Q8NBK3	SUMF1_HUMAN	sulfatase modifying factor 1	273						endoplasmic reticulum lumen	metal ion binding|oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3)	13		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)		TGGAAGCCATCCTCACCAGTG	0.552													7	403	---	---	---	---
MSL2	55167	broad.mit.edu	37	3	135870947	135870947	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr3:135870947T>A	ENST00000309993.2	-	2	1508	c.776A>T	c.(775-777)gAt>gTt	p.D259V	MSL2_ENST00000434835.2_Missense_Mutation_p.D185V	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	259					histone H4-K16 acetylation	MSL complex	zinc ion binding	p.D259V(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						AGGTTTTATATCTTCACTGAA	0.448													57	156	---	---	---	---
SLC9A9	285195	broad.mit.edu	37	3	143100949	143100949	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr3:143100949C>T	ENST00000316549.6	-	13	1685	c.1477G>A	c.(1477-1479)Gtg>Atg	p.V493M	SLC9A9-AS2_ENST00000490153.1_RNA	NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	493					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TCCAGGTCCACGCCAACTCTG	0.438													6	573	---	---	---	---
POLN	353497	broad.mit.edu	37	4	2097644	2097644	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr4:2097644C>G	ENST00000511885.2	-	20	2352	c.1999G>C	c.(1999-2001)Gaa>Caa	p.E667Q	POLN_ENST00000382865.1_Missense_Mutation_p.E667Q			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	667					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			GTCACCTGTTCCACGGGCACA	0.602								DNA polymerases (catalytic subunits)					3	119	---	---	---	---
PPP2R2C	5522	broad.mit.edu	37	4	6377648	6377648	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr4:6377648G>C	ENST00000335585.5	-	4	368	c.345C>G	c.(343-345)atC>atG	p.I115M	PPP2R2C_ENST00000382599.4_Missense_Mutation_p.I115M|PPP2R2C_ENST00000515571.1_Missense_Mutation_p.I98M|PPP2R2C_ENST00000507294.1_Missense_Mutation_p.I108M|PPP2R2C_ENST00000314348.8_5'UTR|PPP2R2C_ENST00000506140.1_Missense_Mutation_p.I108M	NM_181876.2	NP_870991.1	Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	115					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity	p.I115M(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						TCCATAATTTGATAGTTTTAT	0.413													10	234	---	---	---	---
MFSD8	256471	broad.mit.edu	37	4	128843022	128843022	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr4:128843022C>G	ENST00000296468.3	-	11	1222	c.1095G>C	c.(1093-1095)caG>caC	p.Q365H	MFSD8_ENST00000513559.1_Missense_Mutation_p.Q320H|MFSD8_ENST00000515130.1_Intron	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	365					cell death|transmembrane transport	integral to membrane|lysosomal membrane		p.Q365H(1)		cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						TACCTTCCCACTGTATTTTGG	0.373													30	60	---	---	---	---
CHD1	1105	broad.mit.edu	37	5	98192174	98192174	+	Silent	SNP	C	C	T			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr5:98192174C>T	ENST00000284049.3	-	35	5192	c.5043G>A	c.(5041-5043)caG>caA	p.Q1681Q		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1681					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	p.Q1681Q(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	AAGGAGATCTCTGATCTAGTG	0.443													53	21	---	---	---	---
CHD1	1105	broad.mit.edu	37	5	98192340	98192340	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr5:98192340C>G	ENST00000284049.3	-	35	5026	c.4877G>C	c.(4876-4878)aGa>aCa	p.R1626T		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1626					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	p.R1626T(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	AGAATGAGATCTATCTTTTAA	0.383													71	18	---	---	---	---
CCNG1	900	broad.mit.edu	37	5	162868107	162868107	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr5:162868107T>A	ENST00000340828.2	+	3	512	c.288T>A	c.(286-288)tgT>tgA	p.C96*	CCNG1_ENST00000393929.1_Nonsense_Mutation_p.C96*|CCNG1_ENST00000510664.1_Intron|CCNG1_ENST00000512163.1_5'UTR|CCNG1_ENST00000511683.2_5'UTR|AC112205.1_ENST00000599797.1_Intron	NM_004060.3	NP_004051.1	P51959	CCNG1_HUMAN	cyclin G1	96					cell division|mitosis|regulation of cyclin-dependent protein kinase activity	nucleus		p.C96*(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0597)|OV - Ovarian serous cystadenocarcinoma(192;0.107)|Epithelial(171;0.164)		ACCTTGGGTGTGTTGGACTGA	0.368													60	82	---	---	---	---
CTGF	1490	broad.mit.edu	37	6	132271204	132271204	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr6:132271204C>A	ENST00000367976.3	-	4	838	c.638G>T	c.(637-639)tGt>tTt	p.C213F		NM_001901.2	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor	213	TSP type-1.				cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding	plasma membrane|proteinaceous extracellular matrix	heparin binding|insulin-like growth factor binding	p.C213F(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		GCCCATCCCACAGGTCTTGGA	0.587											OREG0017666	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	77	---	---	---	---
ABCB5	340273	broad.mit.edu	37	7	20778650	20778650	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr7:20778650C>T	ENST00000404938.2	+	24	3564	c.2912C>T	c.(2911-2913)aCg>aTg	p.T971M	ABCB5_ENST00000258738.6_Missense_Mutation_p.T526M	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	526					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	p.T526M(1)|p.T971M(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						ATCGGAGAAACGCTCGTTTTG	0.418													27	111	---	---	---	---
ZNF713	349075	broad.mit.edu	37	7	56007656	56007656	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr7:56007656G>T	ENST00000429591.2	+	4	1288	c.1250G>T	c.(1249-1251)tGt>tTt	p.C417F	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C417F(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GAATATAAATGTGAGCAAACT	0.388													105	86	---	---	---	---
TRRAP	8295	broad.mit.edu	37	7	98508784	98508784	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr7:98508784G>T	ENST00000359863.4	+	17	2106	c.1897G>T	c.(1897-1899)Gag>Tag	p.E633*	TRRAP_ENST00000355540.3_Nonsense_Mutation_p.E633*|TRRAP_ENST00000446306.3_Nonsense_Mutation_p.E632*	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	633					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGAGGTATTGGAGCATTTCGC	0.433													4	177	---	---	---	---
TRPA1	8989	broad.mit.edu	37	8	72963064	72963064	+	Silent	SNP	G	G	A			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr8:72963064G>A	ENST00000262209.4	-	15	2061	c.1854C>T	c.(1852-1854)ggC>ggT	p.G618G	RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000524152.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	618						integral to plasma membrane		p.G618G(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GACATTTATTGCCTGGAGAAT	0.338													56	108	---	---	---	---
POU5F1B	5462	broad.mit.edu	37	8	128428780	128428780	+	Silent	SNP	A	A	C			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr8:128428780A>C	ENST00000465342.2	+	2	1826	c.669A>C	c.(667-669)gcA>gcC	p.A223A	POU5F1B_ENST00000391675.1_Silent_p.A223A|CASC8_ENST00000502082.1_RNA|CASC8_ENST00000501396.1_RNA|CASC8_ENST00000523825.1_RNA			Q06416	P5F1B_HUMAN	POU class 5 homeobox 1B	223						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A223A(2)		lung(1)|prostate(1)|urinary_tract(1)	3						TATGCAAAGCAGAAACCCTCA	0.507													17	18	---	---	---	---
SARDH	1757	broad.mit.edu	37	9	136573417	136573417	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr9:136573417G>T	ENST00000371872.4	-	11	1719	c.1462C>A	c.(1462-1464)Ctg>Atg	p.L488M	SARDH_ENST00000422262.2_Missense_Mutation_p.L320M|SARDH_ENST00000439388.1_Missense_Mutation_p.L488M	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	488					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	p.L488M(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		ACCTCGTGCAGCGGGTCTCTC	0.632													12	76	---	---	---	---
HIPK3	10114	broad.mit.edu	37	11	33373268	33373268	+	Silent	SNP	T	T	C			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr11:33373268T>C	ENST00000303296.4	+	15	3227	c.2922T>C	c.(2920-2922)caT>caC	p.H974H	HIPK3_ENST00000379016.3_Silent_p.H953H|HIPK3_ENST00000525975.1_Silent_p.H953H|HIPK3_ENST00000456517.1_Silent_p.H953H	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	974	Required for localization to nuclear speckles (By similarity).				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity	p.H974H(1)		endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						AGGACACTCATGAAAACACAG	0.483													40	139	---	---	---	---
SP1	6667	broad.mit.edu	37	12	53804756	53804756	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr12:53804756G>A	ENST00000426431.2	+	6	2129	c.2069G>A	c.(2068-2070)aGg>aAg	p.R690K	SP1_ENST00000327443.4_Missense_Mutation_p.R697K	NM_003109.1	NP_003100.1	P08047	SP1_HUMAN	Sp1 transcription factor	697	VZV IE62-binding.				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	p.R697K(1)		breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		CGCTTCATGAGGAGTGACCAC	0.493													143	195	---	---	---	---
LRIG3	121227	broad.mit.edu	37	12	59283855	59283855	+	Silent	SNP	G	G	A			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr12:59283855G>A	ENST00000320743.3	-	5	868	c.582C>T	c.(580-582)ctC>ctT	p.L194L	LRIG3_ENST00000379141.4_Silent_p.L134L	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	194						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TTAACACAAGGAGTGTGTTGG	0.423			T	ROS1	NSCLC								6	412	---	---	---	---
OTOGL	283310	broad.mit.edu	37	12	80658832	80658832	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr12:80658832G>T	ENST00000458043.2	+	19	2045	c.2039G>T	c.(2038-2040)tGc>tTc	p.C680F	OTOGL_ENST00000547103.1_Missense_Mutation_p.C680F	NM_173591.3	NP_775862.3			otogelin-like									p.C680F(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTTGCTCCTTGCCACATCTAT	0.493													172	270	---	---	---	---
TPPP2	122664	broad.mit.edu	37	14	21498804	21498804	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr14:21498804G>A	ENST00000321760.6	+	2	212	c.64G>A	c.(64-66)Ggc>Agc	p.G22S	TPPP2_ENST00000460647.2_Missense_Mutation_p.G22S|NDRG2_ENST00000403829.3_Intron|TPPP2_ENST00000530140.2_Missense_Mutation_p.G22S	NM_173846.4	NP_776245.2	P59282	TPPP2_HUMAN	tubulin polymerization-promoting protein family member 2	22						cytoplasm		p.G22S(1)		endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		ATCAAGCAGTGGCACTGAAAT	0.517													28	36	---	---	---	---
SPG11	80208	broad.mit.edu	37	15	44944401	44944401	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr15:44944401C>A	ENST00000261866.7	-	5	949	c.933G>T	c.(931-933)aaG>aaT	p.K311N	SPG11_ENST00000427534.2_Missense_Mutation_p.K311N|SPG11_ENST00000559193.1_Missense_Mutation_p.K311N|SPG11_ENST00000535302.2_Missense_Mutation_p.K311N|SPG11_ENST00000558319.1_Missense_Mutation_p.K311N	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	311					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CATCTACGCCCTTAGGTCCTT	0.373													4	181	---	---	---	---
DPP8	54878	broad.mit.edu	37	15	65780073	65780073	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr15:65780073T>C	ENST00000341861.5	-	7	2538	c.958A>G	c.(958-960)Atg>Gtg	p.M320V	DPP8_ENST00000321118.7_Missense_Mutation_p.M320V|DPP8_ENST00000559233.1_Missense_Mutation_p.M320V|DPP8_ENST00000358939.4_Missense_Mutation_p.M304V|DPP8_ENST00000321147.6_Missense_Mutation_p.M320V|DPP8_ENST00000339244.5_Missense_Mutation_p.M320V|DPP8_ENST00000300141.6_Missense_Mutation_p.M304V	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	320					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity	p.M304V(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GTTTCCAACATAGGGGATGTA	0.338													20	247	---	---	---	---
MYO9A	4649	broad.mit.edu	37	15	72193592	72193592	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr15:72193592G>T	ENST00000356056.5	-	23	3562	c.3090C>A	c.(3088-3090)ttC>ttA	p.F1030L	MYO9A_ENST00000566885.1_Missense_Mutation_p.F650L|MYO9A_ENST00000424560.1_Missense_Mutation_p.F1030L|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000564571.1_Missense_Mutation_p.F1030L|MYO9A_ENST00000444904.1_Missense_Mutation_p.F1011L	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1030	IQ 1.|Neck or regulatory domain.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	p.F1030L(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GCAAGACCCTGAACCATCGCT	0.453													42	75	---	---	---	---
FES	2242	broad.mit.edu	37	15	91428783	91428783	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr15:91428783C>A	ENST00000328850.3	+	3	497	c.355C>A	c.(355-357)Cag>Aag	p.Q119K	FES_ENST00000394300.3_Intron|FES_ENST00000394302.1_Intron|FES_ENST00000450438.2_Intron|FES_ENST00000444422.2_Missense_Mutation_p.Q119K|FES_ENST00000414248.2_Intron	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	feline sarcoma oncogene	119	Important for interaction with membranes containing phosphoinositides.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.Q119K(2)		lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CTACAGCGAGCAGTGGCAGCA	0.597													12	17	---	---	---	---
FAM174B	400451	broad.mit.edu	37	15	93162648	93162648	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr15:93162648A>G	ENST00000555748.1	-	3	447	c.94T>C	c.(94-96)Tgg>Cgg	p.W32R	FAM174B_ENST00000555064.1_Missense_Mutation_p.W32R|FAM174B_ENST00000555696.1_Missense_Mutation_p.W32R|FAM174B_ENST00000327355.5_3'UTR|RP11-386M24.9_ENST00000607766.1_RNA|FAM174B_ENST00000553393.1_Intron			Q3ZCQ3	F174B_HUMAN	family with sequence similarity 174, member B	0						integral to membrane				endometrium(2)|lung(1)	3						GCAGCTGACCAACTTTCCACA	0.527													19	28	---	---	---	---
ELMO3	79767	broad.mit.edu	37	16	67234423	67234423	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr16:67234423G>A	ENST00000393997.2	+	6	699	c.642G>A	c.(640-642)tgG>tgA	p.W214*	ELMO3_ENST00000360833.1_Nonsense_Mutation_p.W197*|ELMO3_ENST00000477898.1_Nonsense_Mutation_p.W48*|ELMO3_ENST00000571638.1_3'UTR	NM_024712.3	NP_078988.2	Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	161					apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding	p.W214*(1)		cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		TGGTGTCCTGGGAGACTCTGA	0.652													3	68	---	---	---	---
SLC9A5	6553	broad.mit.edu	37	16	67305047	67305047	+	Silent	SNP	C	C	T			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr16:67305047C>T	ENST00000299798.11	+	16	2690	c.2625C>T	c.(2623-2625)acC>acT	p.T875T		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	875					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	p.T875T(1)		breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		AGGACCACACCCATCTCAGCC	0.662													4	31	---	---	---	---
DHRS13	147015	broad.mit.edu	37	17	27229944	27229944	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr17:27229944C>T	ENST00000378895.4	-	1	145	c.19G>A	c.(19-21)Ggc>Agc	p.G7S	DHRS13_ENST00000426464.2_Missense_Mutation_p.G7S|DHRS13_ENST00000394901.3_5'UTR	NM_144683.3	NP_653284.2	Q6UX07	DHR13_HUMAN	dehydrogenase/reductase (SDR family) member 13	7						extracellular region	binding|oxidoreductase activity	p.G7S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			AACCCCGCGCCCAGCAGCAGC	0.756													5	12	---	---	---	---
SPOP	8405	broad.mit.edu	37	17	47696432	47696432	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr17:47696432A>C	ENST00000393331.3	-	7	861	c.391T>G	c.(391-393)Tgg>Ggg	p.W131G	SPOP_ENST00000504102.1_Missense_Mutation_p.W131G|SPOP_ENST00000393328.2_Missense_Mutation_p.W131G|SPOP_ENST00000503676.1_Missense_Mutation_p.W131G|SPOP_ENST00000347630.2_Missense_Mutation_p.W131G	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	131	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.W131G(2)|p.W131R(1)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TTGAATCCCCAGTCTTTGCCT	0.458										Prostate(2;0.17)			139	222	---	---	---	---
SRSF1	6426	broad.mit.edu	37	17	56083187	56083187	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr17:56083187T>C	ENST00000582730.2	-	3	650	c.527A>G	c.(526-528)gAt>gGt	p.D176G	SRSF1_ENST00000258962.4_Missense_Mutation_p.D176G|SRSF1_ENST00000584773.1_Missense_Mutation_p.D176G|SRSF1_ENST00000585096.1_Intron	NM_001078166.1	NP_001071634.1	Q07955	SRSF1_HUMAN	serine/arginine-rich splicing factor 1	176	RRM 2.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytoplasm|nuclear speck	nucleotide binding|RNA binding	p.D176G(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTTAGTGTTATCCAGTTTTCG	0.403													85	117	---	---	---	---
OR10H3	26532	broad.mit.edu	37	19	15852413	15852413	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr19:15852413G>A	ENST00000305892.1	+	1	211	c.211G>A	c.(211-213)Gag>Aag	p.E71K		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E71K(1)		cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CTCCATCTCTGAGATTCTGTT	0.498													21	764	---	---	---	---
FCGBP	8857	broad.mit.edu	37	19	40420067	40420067	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr19:40420067C>T	ENST00000221347.6	-	6	2934	c.2927G>A	c.(2926-2928)gGc>gAc	p.G976D		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	976	VWFD 2.					extracellular region	protein binding	p.G976D(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GACAGTCAGGCCAAAGTCCGT	0.592													37	60	---	---	---	---
ERCC2	2068	broad.mit.edu	37	19	45858059	45858059	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr19:45858059G>A	ENST00000391945.4	-	17	1671	c.1594C>T	c.(1594-1596)Cct>Tct	p.P532S	ERCC2_ENST00000391944.3_Missense_Mutation_p.P454S	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	532	Mediates interaction with MMS19.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	p.P532S(1)		large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		ATGCCATCAGGGACCACAGCG	0.627			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				67	145	---	---	---	---
CRNKL1	51340	broad.mit.edu	37	20	20028414	20028414	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr20:20028414T>C	ENST00000377340.2	-	6	1131	c.1100A>G	c.(1099-1101)gAg>gGg	p.E367G	CRNKL1_ENST00000377327.4_Missense_Mutation_p.E355G|CRNKL1_ENST00000536226.1_Missense_Mutation_p.E206G	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	367					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						GATATATCGCTCATAAATGGT	0.517													3	103	---	---	---	---
CACNG2	10369	broad.mit.edu	37	22	36960764	36960764	+	Silent	SNP	G	G	A			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr22:36960764G>A	ENST00000300105.6	-	4	1587	c.606C>T	c.(604-606)atC>atT	p.I202I		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	202					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	p.I202I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						TGTGCCGGTCGATAAACATGT	0.622													142	194	---	---	---	---
KLHL13	90293	broad.mit.edu	37	X	117043609	117043609	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chrX:117043609G>T	ENST00000371876.1	-	4	3289	c.868C>A	c.(868-870)Cac>Aac	p.H290N	KLHL13_ENST00000371878.1_Missense_Mutation_p.H290N|KLHL13_ENST00000541812.1_Missense_Mutation_p.H325N|KLHL13_ENST00000469946.1_Missense_Mutation_p.H290N|KLHL13_ENST00000545703.1_Missense_Mutation_p.H299N|KLHL13_ENST00000540167.1_Missense_Mutation_p.H325N|KLHL13_ENST00000262820.3_Missense_Mutation_p.H341N|KLHL13_ENST00000371882.1_Missense_Mutation_p.H290N|KLHL13_ENST00000539496.1_Missense_Mutation_p.H344N			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	341	BACK.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		p.H341N(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GTAACCAAGTGAGTGGTGTCA	0.473													5	150	---	---	---	---
MAPKAPK3	7867	broad.mit.edu	37	3	50655021	50655042	+	Frame_Shift_Del	DEL	CAGGGGGGCCCTGTGCCCCCGC	CAGGGGGGCCCTGTGCCCCCGC	-	rs149349769	byFrequency	TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr3:50655021_50655042delCAGGGGGGCCCTGTGCCCCCGC	ENST00000446044.1	+	4	621_642	c.25_46delCAGGGGGGCCCTGTGCCCCCGC	c.(25-48)caggggggccctgtgcccccgccafs	p.QGGPVPPP9fs	MAPKAPK3_ENST00000357955.2_Frame_Shift_Del_p.QGGPVPPP9fs	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	9					activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity			central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		AGCAGAGGAGCAGGGGGGCCCTGTGCCCCCGCCAGTTGCACC	0.698													9	68	---	---	---	---
