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
RTKN	6242	broad.mit.edu	37	2	74654585	74654585	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr2:74654585C>T	ENST00000305557.5	-	11	1767	c.1182G>A	c.(1180-1182)tgG>tgA	p.W394*	RTKN_ENST00000233330.6_Nonsense_Mutation_p.W357*|RTKN_ENST00000272430.5_Nonsense_Mutation_p.W407*	NM_033046.2	NP_149035.1	Q9BST9	RTKN_HUMAN	rhotekin	407	PH.				apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity			endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						GAGCCTCCATCCAGCTCTGCA	0.502000													60	198					0	0	0.014410	0	0
PREX1	57580	broad.mit.edu	37	20	47266745	47266745	+	Splice_Site	SNP	C	C	T			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr20:47266745C>T	ENST00000396220.1	-	24	2840		c.e24-1		PREX1_ENST00000371941.3_Splice_Site			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1						actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GGGCTGCAAACTGAGAAAGTG	0.592000													21	63					0	0	0.008871	0	0
SUPV3L1	6832	broad.mit.edu	37	10	70960106	70960106	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr10:70960106G>A	ENST00000359655.4	+	11	1429	c.1369G>A	c.(1369-1371)Gaa>Aaa	p.E457K		NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	457	Helicase C-terminal.				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GAGAGAACTAGAACCAATCAC	0.413000													22	73					0	0	0.021523	0	0
FNDC4	64838	broad.mit.edu	37	2	27715571	27715571	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr2:27715571C>A	ENST00000264703.3	-	6	1022	c.631G>T	c.(631-633)Gaa>Taa	p.E211*		NM_022823.2	NP_073734.1	Q9H6D8	FNDC4_HUMAN	fibronectin type III domain containing 4	211						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|prostate(1)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					GGACTCTGTTCCGGCCCCTTT	0.552000													21	61					1.55795e-14	2.16849e-14	0.012319	1	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429	by1000genomes	TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr17:39274087G>C	ENST00000391413.2	-	1	519	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.L161V(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657000													3	12					0	0	0.009096	0	0
EGF	1950	broad.mit.edu	37	4	110866357	110866357	+	Missense_Mutation	SNP	T	T	A	rs139711858		TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr4:110866357T>A	ENST00000265171.5	+	5	1311	c.866T>A	c.(865-867)tTt>tAt	p.F289Y	EGF_ENST00000503392.1_Missense_Mutation_p.F289Y|EGF_ENST00000509793.1_Missense_Mutation_p.F289Y	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	289					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	CATTCATCATTTGTACCACTT	0.448000													9	28					0	0	0.006214	0	0
KCNF1	3754	broad.mit.edu	37	2	11053827	11053827	+	Silent	SNP	C	C	T			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr2:11053827C>T	ENST00000295082.1	+	1	1765	c.1275C>T	c.(1273-1275)caC>caT	p.H425H		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	425						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CGGCCAAGCACGAGCTGGAGC	0.632000													6	28					0	0	0.001168	0	0
DRAXIN	374946	broad.mit.edu	37	1	11766403	11766403	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr1:11766403C>T	ENST00000294485.5	+	2	223	c.88C>T	c.(88-90)Cct>Tct	p.P30S		NM_198545.3	NP_940947.3			dorsal inhibitory axon guidance protein																		CGCCCTTGCACCTGGGACCCC	0.706000													6	19					0	0	0.001984	0	0
TMEM87B	84910	broad.mit.edu	37	2	112821764	112821764	+	Silent	SNP	T	T	C			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr2:112821764T>C	ENST00000283206.4	+	3	621	c.252T>C	c.(250-252)ccT>ccC	p.P84P		NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN	transmembrane protein 87B	84						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						GTTCTGGGCCTGTGAAGTTTA	0.308000													3	144					0	0	0.004672	0	0
ZNF157	7712	broad.mit.edu	37	X	47272940	47272940	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chrX:47272940A>G	ENST00000377073.3	+	4	1554	c.1468A>G	c.(1468-1470)Aga>Gga	p.R490G		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	490					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						AGAACATCAGAGAACTCACAT	0.488000													14	46					0	0	0.003163	0	0
PCDH17	27253	broad.mit.edu	37	13	58299273	58299273	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr13:58299273C>T	ENST00000377918.3	+	4	3351	c.3325C>T	c.(3325-3327)Cgg>Tgg	p.R1109W		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1109					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.R1109W(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CAGAGCCAGCCGGGATTCCAG	0.522000													6	203					0	0	0.001984	0	0
RGMB	285704	broad.mit.edu	37	5	98115428	98115428	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr5:98115428G>A	ENST00000308234.7	+	4	806	c.404G>A	c.(403-405)cGa>cAa	p.R135Q	RGMB_ENST00000504776.1_3'UTR|RGMB_ENST00000513185.1_Missense_Mutation_p.R94Q	NM_001012761.2	NP_001012779.2	Q6NW40	RGMB_HUMAN	repulsive guidance molecule family member b	94					axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent	anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft	identical protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		TGCACCCAGCGAACTTCAAAA	0.542000													11	89					0	0	0.008291	0	0
CLN6	54982	broad.mit.edu	37	15	68503628	68503628	+	Missense_Mutation	SNP	T	T	A	rs121908079		TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr15:68503628T>A	ENST00000249806.5	-	5	672	c.515A>T	c.(514-516)tAt>tTt	p.Y172F	CLN6_ENST00000566347.1_Missense_Mutation_p.Y109F|CLN6_ENST00000565471.1_Intron|CLN6_ENST00000564752.1_Missense_Mutation_p.M181L|CLN6_ENST00000418702.2_Intron|RP11-315D16.2_ENST00000562767.1_Intron|CLN6_ENST00000538696.1_Missense_Mutation_p.Y204F	NM_017882.2	NP_060352.1	Q9NWW5	CLN6_HUMAN	ceroid-lipofuscinosis, neuronal 6, late infantile, variant	172					cell death|cholesterol metabolic process|ganglioside metabolic process|glycosaminoglycan metabolic process|lysosomal lumen acidification|positive regulation of proteolysis|protein catabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	protein homodimerization activity			large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GTACTCATCATAATAGTAGAG	0.602000													24	65					0	0	0.004656	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117351760	117351760	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr7:117351760C>G	ENST00000160373.3	-	23	4914	c.4823G>C	c.(4822-4824)aGa>aCa	p.R1608T	CFTR_ENST00000429014.1_Intron	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1608										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		AGATTTAACTCTTGAAACACC	0.423000													3	71					0	0	0.014758	0	0
KDR	3791	broad.mit.edu	37	4	55964338	55964338	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr4:55964338G>T	ENST00000263923.4	-	17	2770	c.2475C>A	c.(2473-2475)agC>agA	p.S825R		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	825					angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	ATTCCCATTTGCTGGCATCAT	0.453000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			14	60					6.31663e-08	8.44951e-08	0.003163	1	0
CD2AP	23607	broad.mit.edu	37	6	47501441	47501441	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr6:47501441T>G	ENST00000359314.5	+	3	725	c.269T>G	c.(268-270)cTt>cGt	p.L90R		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	90	Interaction with ANLN and localization to the midbody.				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			ACCTATGGACTTCCAGCTGGA	0.383000													7	20					0	0	0.001984	0	0
TEX11	56159	broad.mit.edu	37	X	69826836	69826836	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chrX:69826836C>T	ENST00000395889.2	-	24	2123	c.1968G>A	c.(1966-1968)atG>atA	p.M656I	TEX11_ENST00000374333.2_Missense_Mutation_p.M641I|TEX11_ENST00000344304.3_Missense_Mutation_p.M656I|TEX11_ENST00000374320.2_Missense_Mutation_p.M331I	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	656							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					AAAACTCTCTCATCATCACTG	0.318000													3	30					0	0	0.009096	0	0
GALNT5	11227	broad.mit.edu	37	2	158140861	158140861	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr2:158140861G>C	ENST00000259056.4	+	2	2007	c.1522G>C	c.(1522-1524)Gtg>Ctg	p.V508L		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	508	Catalytic subdomain A.				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						TGTGGATGAAGTGTGGTCCAC	0.488000													21	59					0	0	0.014323	0	0
ZNF300	91975	broad.mit.edu	37	5	150275429	150275429	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr5:150275429C>A	ENST00000446148.2	-	7	1847	c.1420G>T	c.(1420-1422)Gtt>Ttt	p.V474F	ZNF300_ENST00000394226.2_Missense_Mutation_p.V458F|ZNF300_ENST00000274599.5_Missense_Mutation_p.V458F|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000418587.2_Missense_Mutation_p.V422F	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	458					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAGTATGAACTAACTGATGT	0.398000													9	44					0.000274275	0.000353129	0.004482	1	0
ZBTB33	10009	broad.mit.edu	37	X	119388597	119388597	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chrX:119388597G>C	ENST00000326624.2	+	2	1555	c.1327G>C	c.(1327-1329)Gat>Cat	p.D443H	ZBTB33_ENST00000557385.1_Missense_Mutation_p.D443H	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	443					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						AGATACTTATGATATAGTGAT	0.413000													13	85					0	0	0.016723	0	0
KMT2D	8085	broad.mit.edu	37	12	49434776	49434776	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr12:49434776C>G	ENST00000301067.7	-	31	6776	c.6777G>C	c.(6775-6777)gaG>gaC	p.E2259D		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CCCCAGGGCTCTCAGGCACAG	0.637000													6	77					0	0	0.001168	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971208	21971208	+	Splice_Site	SNP	C	C	T			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr9:21971208C>T	ENST00000579755.1	-	2	486		c.e2-1		CDKN2A_ENST00000498124.1_Splice_Site|CDKN2A_ENST00000579122.1_Splice_Site|CDKN2A_ENST00000578845.2_5'UTR|CDKN2A_ENST00000498628.2_Splice_Site|CDKN2A_ENST00000304494.5_Splice_Site|CDKN2A_ENST00000361570.3_Splice_Site|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Splice_Site|CDKN2A_ENST00000530628.2_Splice_Site|CDKN2A_ENST00000494262.1_Splice_Site|CDKN2A_ENST00000497750.1_Splice_Site|CDKN2A_ENST00000446177.1_Splice_Site			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A						cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(38)|p.0(1)|p.V28_V51del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCATCATGACCTGCCAGAGAG	0.667000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			8	6					0	0	0.004482	0	0
PCED1A	64773	broad.mit.edu	37	20	2816812	2816812	+	Silent	SNP	C	C	T			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr20:2816812C>T	ENST00000360652.2	-	7	1492	c.990G>A	c.(988-990)caG>caA	p.Q330Q	PCED1A_ENST00000356872.3_Silent_p.Q279Q	NM_022760.3	NP_073597.2			PC-esterase domain containing 1A																		gtggcgagggctgaggaagcg	0.607000													12	40					0	0	0.010729	0	0
PDHA1	5160	broad.mit.edu	37	X	19373621	19373621	+	Splice_Site	SNP	G	G	C			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chrX:19373621G>C	ENST00000379806.5	+	8	1017	c.873_splice	c.e8+1	p.R291_splice	PDHA1_ENST00000422285.2_Splice_Site_p.R253_splice|PDHA1_ENST00000545074.1_Splice_Site_p.R260_splice|PDHA1_ENST00000540249.1_Splice_Site_p.R222_splice	NM_001173454.1	NP_001166925.1	P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	253					glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)				NADH(DB00157)	CCTGGGCTGAGAGTAAGGACA	0.512000													8	126					0	0	0.003080	0	0
SLC7A7	9056	broad.mit.edu	37	14	23243214	23243214	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr14:23243214C>T	ENST00000397532.3	-	9	1882	c.1357G>A	c.(1357-1359)Ggc>Agc	p.G453S	SLC7A7_ENST00000397528.4_Missense_Mutation_p.G453S|SLC7A7_ENST00000555702.1_Missense_Mutation_p.G453S|SLC7A7_ENST00000554517.1_Missense_Mutation_p.G187S|SLC7A7_ENST00000397529.2_Missense_Mutation_p.G453S|SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000285850.7_Missense_Mutation_p.G453S			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	453					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		AAGGGCAGGCCTGAGAGGGCA	0.522000													15	45					0	0	0.006122	0	0
GIPC1	10755	broad.mit.edu	37	19	14591280	14591280	+	Silent	SNP	G	G	A			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr19:14591280G>A	ENST00000393033.4	-	6	761	c.492C>T	c.(490-492)agC>agT	p.S164S	GIPC1_ENST00000345425.2_Silent_p.S164S|GIPC1_ENST00000393028.1_Silent_p.S67S|GIPC1_ENST00000586027.1_Silent_p.S164S|GIPC1_ENST00000393029.3_Silent_p.S67S|GIPC1_ENST00000591349.1_Silent_p.S67S	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	164	PDZ.				endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						GGTCGATCACGCTGCCCTCCT	0.682000											OREG0025316	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	67					0	0	0.014758	0	0
NHS	4810	broad.mit.edu	37	X	17710476	17710476	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chrX:17710476G>A	ENST00000380060.3	+	3	1078	c.740G>A	c.(739-741)cGc>cAc	p.R247H	NHS_ENST00000398097.3_Missense_Mutation_p.R70H	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	247						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CGGAGCGATCGCCGAGAGCAA	0.527000													28	65					0	0	0.007291	0	0
C4orf21	55345	broad.mit.edu	37	4	113533743	113533743	+	Splice_Site	SNP	C	C	G			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr4:113533743C>G	ENST00000505019.1	-	7	2729	c.2602_splice	c.e7-1	p.V868_splice	C4orf21_ENST00000309071.5_Splice_Site_p.V868_splice|C4orf21_ENST00000445203.2_Splice_Site_p.V837_splice	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	868										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		ATGGTTTCCTCACTGTAATGG	0.284000													5	27					0	0	0.014758	0	0
PCDHB17P	54661	broad.mit.edu	37	5	140536957	140536957	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr5:140536957G>T	ENST00000539533.1	+	1	1381	c.1381G>T	c.(1381-1383)Gtc>Ttc	p.V461F																								CACCCTGTTCGTCCGCGAGAA	0.622000													23	137					2.21704e-12	3.00467e-12	0.016522	1	0
CSMD3	114788	broad.mit.edu	37	8	113349858	113349858	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr8:113349858G>T	ENST00000297405.5	-	43	6999	c.6755C>A	c.(6754-6756)cCa>cAa	p.P2252Q	CSMD3_ENST00000352409.3_Missense_Mutation_p.P2182Q|CSMD3_ENST00000343508.3_Missense_Mutation_p.P2212Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.P2148Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2252	Sushi 12.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGTGTATCCTGGGAAACATTC	0.408000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			4	106					0.00024832	0.000323759	0.009096	1	0
EYA1	2138	broad.mit.edu	37	8	72267106	72267106	+	Missense_Mutation	SNP	C	C	T	rs74720958	by1000genomes	TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr8:72267106C>T	ENST00000340726.3	-	3	674	c.35G>A	c.(34-36)cGt>cAt	p.R12H	EYA1_ENST00000388742.4_Missense_Mutation_p.R12H|EYA1_ENST00000303824.7_Missense_Mutation_p.R12H|EYA1_ENST00000388743.2_Missense_Mutation_p.R12H|EYA1_ENST00000388741.2_Intron|EYA1_ENST00000419131.1_Missense_Mutation_p.R12H|EYA1_ENST00000388740.3_Intron	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	12					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			ACCACTCAGACGGCTATGCGG	0.458000													51	125					0	0	0.014410	0	0
RNF19A	25897	broad.mit.edu	37	8	101299799	101299799	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr8:101299799C>T	ENST00000519449.1	-	3	920	c.604G>A	c.(604-606)Gaa>Aaa	p.E202K	RNF19A_ENST00000341084.2_Missense_Mutation_p.E202K	NM_015435.3	NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	202					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			ATAAATTCTTCGTATTTTTCC	0.388000													7	96					0	0	0.001984	0	0
AHDC1	27245	broad.mit.edu	37	1	27874932	27874932	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr1:27874932C>T	ENST00000374011.2	-	6	4663	c.3695G>A	c.(3694-3696)gGc>gAc	p.G1232D	AHDC1_ENST00000247087.5_Missense_Mutation_p.G1232D|AHDC1_ENST00000482400.2_Intron	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1232							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CCGTCCACGGCCCGGCTTGGA	0.607000													8	25					0	0	0.006214	0	0
TP53	7157	broad.mit.edu	37	17	7577568	7577568	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr17:7577568C>A	ENST00000420246.2	-	7	845	c.713G>T	c.(712-714)tGt>tTt	p.C238F	TP53_ENST00000269305.4_Missense_Mutation_p.C238F|TP53_ENST00000445888.2_Missense_Mutation_p.C238F|TP53_ENST00000359597.4_Missense_Mutation_p.C238F|TP53_ENST00000455263.2_Missense_Mutation_p.C238F|TP53_ENST00000413465.2_Missense_Mutation_p.C238F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	238	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C238Y(65)|p.C238F(46)|p.C238S(9)|p.0?(8)|p.?(5)|p.C145F(5)|p.C145Y(5)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.M237fs*1(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.C145S(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGAACTGTTACACATGTAGTT	0.572000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			30	48					5.60225e-13	7.69376e-13	0.009535	1	0
LMO7	4008	broad.mit.edu	37	13	76419476	76419476	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr13:76419476T>C	ENST00000357063.3	+	27	5527	c.4267T>C	c.(4267-4269)Tct>Cct	p.S1423P	LMO7_ENST00000377534.3_Missense_Mutation_p.S1423P|LMO7_ENST00000341547.4_Missense_Mutation_p.S1089P|LMO7_ENST00000526202.1_Missense_Mutation_p.S1015P|LMO7_ENST00000465261.2_Missense_Mutation_p.S1138P|LMO7_ENST00000321797.8_Missense_Mutation_p.S1138P			Q8WWI1	LMO7_HUMAN	LIM domain 7	1423						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TAAATCCAGATCTACTACTGA	0.313000													6	16					0	0	0.001984	0	0
AFAP1	60312	broad.mit.edu	37	4	7774605	7774605	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr4:7774605G>A	ENST00000420658.1	-	16	2467	c.2195C>T	c.(2194-2196)gCg>gTg	p.A732V	AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000358461.2_Missense_Mutation_p.A648V|AFAP1_ENST00000360265.4_Missense_Mutation_p.A648V|AFAP1_ENST00000382543.3_Missense_Mutation_p.A732V	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	652						actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						GACTCCGCCCGCCAGCGCTTT	0.657000													4	35					0	0	0.014758	0	0
SEMA7A	8482	broad.mit.edu	37	15	74709052	74709052	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr15:74709052G>C	ENST00000261918.4	-	7	1213	c.665C>G	c.(664-666)cCa>cGa	p.P222R	SEMA7A_ENST00000543145.2_Missense_Mutation_p.P208R|SEMA7A_ENST00000542748.1_Missense_Mutation_p.P57R	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	222	Sema.				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						GATGAACTGTGGGTCTGCCAG	0.567000													22	84					0	0	0.021523	0	0
LIMK1	3984	broad.mit.edu	37	7	73523259	73523259	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr7:73523259C>T	ENST00000418310.1	+	10	1369	c.1267C>T	c.(1267-1269)Cac>Tac	p.H423Y	LIMK1_ENST00000538333.3_Missense_Mutation_p.H359Y|LIMK1_ENST00000336180.2_Missense_Mutation_p.H393Y			P53667	LIMK1_HUMAN	LIM domain kinase 1	393	Protein kinase.				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				ATGCCTGGAACACCCCAACGT	0.587000													18	36					0	0	0.007413	0	0
PTGS2	5743	broad.mit.edu	37	1	186648488	186648488	+	Silent	SNP	G	G	A			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr1:186648488G>A	ENST00000367468.5	-	2	271	c.135C>T	c.(133-135)acC>acT	p.T45T	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	45	EGF-like.				cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	ATCCTGTCCGGGTACAATCGC	0.443000													19	30					0	0	0.012319	0	0
LIN54	132660	broad.mit.edu	37	4	83849335	83849335	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr4:83849335C>G	ENST00000340417.3	-	13	2547	c.2170G>C	c.(2170-2172)Gag>Cag	p.E724Q	LIN54_ENST00000510557.1_Missense_Mutation_p.E503Q|LIN54_ENST00000506560.1_Missense_Mutation_p.E635Q|LIN54_ENST00000505397.1_Missense_Mutation_p.E724Q|LIN54_ENST00000446851.2_Missense_Mutation_p.E503Q|LIN54_ENST00000442461.2_Missense_Mutation_p.E503Q|LIN54_ENST00000395282.2_3'UTR|LIN54_ENST00000395283.2_Missense_Mutation_p.E635Q|LIN54_ENST00000505905.1_5'UTR	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 homolog (C. elegans)	724					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				CCGAATTCCTCAAGTATCATC	0.468000													4	76					0	0	0.001168	0	0
SNHG5	387066	broad.mit.edu	37	6	86387071	86387071	+	RNA	SNP	A	A	C			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr6:86387071A>C	ENST00000384338.1	-	0	15					NR_002743.2																						GGTTCGGGATAAGATCATCAC	0.343000													4	41					0	0	0.014758	0	0
RBM34	23029	broad.mit.edu	37	1	235324259	235324259	+	Silent	SNP	G	G	C			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr1:235324259G>C	ENST00000408888.3	-	2	407	c.177C>G	c.(175-177)ctC>ctG	p.L59L	RBM34_ENST00000366606.3_Silent_p.L54L			P42696	RBM34_HUMAN	RNA binding motif protein 34	59						nucleolus	nucleotide binding|RNA binding			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			GAGAACTGAAGAGGGACGCCA	0.567000													9	45					0	0	0.006214	0	0
FUBP1	8880	broad.mit.edu	37	1	78433858	78433858	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr1:78433858G>A	ENST00000370767.1	-	3	328	c.241C>T	c.(241-243)Caa>Taa	p.Q81*	FUBP1_ENST00000370768.2_Nonsense_Mutation_p.Q81*|FUBP1_ENST00000436586.2_Nonsense_Mutation_p.Q102*			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	81					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CAGTCATTTTGAGGAGCAACT	0.313000			"""F, N"""		oligodendroglioma								6	28					0	0	0.001168	0	0
MUC16	94025	broad.mit.edu	37	19	9090831	9090831	+	Silent	SNP	A	A	G			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr19:9090831A>G	ENST00000397910.4	-	1	1187	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	328	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCATGGAAAAAGGGATAGCTG	0.522000													3	76					0	0	0.004672	0	0
GTSE1	51512	broad.mit.edu	37	22	46725347	46725347	+	Silent	SNP	C	C	T	rs61737807	byFrequency	TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr22:46725347C>T	ENST00000454366.1	+	11	2231	c.2019C>T	c.(2017-2019)tgC>tgT	p.C673C		NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	654					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule		p.C654C(1)|p.C673C(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		TCGACTTCTGCGATACCCCAG	0.507000													40	133					0	0	0.011902	0	0
BMPR2	659	broad.mit.edu	37	2	203332371	203332371	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr2:203332371A>G	ENST00000374580.4	+	3	916	c.377A>G	c.(376-378)aAc>aGc	p.N126S	BMPR2_ENST00000479069.1_3'UTR|BMPR2_ENST00000374574.2_Missense_Mutation_p.N126S	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	126					anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						TGTAATGTCAACTTTACTGAG	0.368000													14	32					0	0	0.020292	0	0
FXR1	8087	broad.mit.edu	37	3	180693130	180693130	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr3:180693130G>A	ENST00000357559.4	+	16	2017	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K	FXR1_ENST00000468861.1_Intron|FXR1_ENST00000491062.1_Intron|FXR1_ENST00000445140.2_Intron|FXR1_ENST00000480918.1_Missense_Mutation_p.E532K|FXR1_ENST00000305586.7_Missense_Mutation_p.E460K	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	545					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			TTCTAGAGCTGAGTCTCAGAG	0.308000													3	10					0	0	0.009096	0	0
LRP1B	53353	broad.mit.edu	37	2	141474362	141474362	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr2:141474362C>G	ENST00000389484.3	-	36	6753	c.5782G>C	c.(5782-5784)Gac>Cac	p.D1928H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1928					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AAGCCCATGTCTGTCCAGTAG	0.363000										TSP Lung(27;0.18)			3	77					0	0	0.014758	0	0
SCN3A	6328	broad.mit.edu	37	2	165987855	165987855	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr2:165987855C>G	ENST00000360093.3	-	16	2955	c.2464G>C	c.(2464-2466)Gaa>Caa	p.E822Q	SCN3A_ENST00000409101.3_Missense_Mutation_p.E773Q|SCN3A_ENST00000283254.7_Missense_Mutation_p.E822Q	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	822						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TTCCAGCCTTCTTGGAAATAG	0.393000													13	76					0	0	0.016723	0	0
GTF3C1	2975	broad.mit.edu	37	16	27561047	27561047	+	Silent	SNP	C	C	T			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr16:27561047C>T	ENST00000356183.4	-	1	180	c.165G>A	c.(163-165)ccG>ccA	p.P55P	GTF3C1_ENST00000561623.1_Silent_p.P55P	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	55						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						AGCTGATGCCCGGGTGCGTGG	0.731000													4	28					0	0	0.014758	0	0
IGHV1-69	28461	broad.mit.edu	37	14	107170012	107170012	+	RNA	SNP	G	G	A			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr14:107170012G>A	ENST00000390633.2	-	0	330																											ATTTGTCCGCGGTAATCGTGA	0.547000													47	327					0	0	0.011902	0	0
BMPER	168667	broad.mit.edu	37	7	34118794	34118794	+	Silent	SNP	A	A	G			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr7:34118794A>G	ENST00000297161.2	+	13	1778	c.1404A>G	c.(1402-1404)aaA>aaG	p.K468K	BMPER_ENST00000426693.1_Silent_p.K468K	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	468	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TGACCACCAAAGCAGGTGGGG	0.622000													12	59					0	0	0.010729	0	0
ACAD10	80724	broad.mit.edu	37	12	112150388	112150388	+	Silent	SNP	G	G	A			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr12:112150388G>A	ENST00000455480.2	+	7	1047	c.870G>A	c.(868-870)gtG>gtA	p.V290V	ACAD10_ENST00000549590.1_Silent_p.V259V|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000313698.4_Silent_p.V259V|ACAD10_ENST00000392636.2_5'UTR	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	259							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CTCGGCCTGTGAAAAAGACGA	0.438000													26	206					0	0	0.004656	0	0
BCRP7	100133163	broad.mit.edu	37	22	18844888	18844888	+	RNA	SNP	A	A	G			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr22:18844888A>G	ENST00000412938.1	+	0	3138																											GCTCACGGAAATACAGCTTCA	0.587000													3	97					0	0	0.009096	0	0
DIAPH3	81624	broad.mit.edu	37	13	60545216	60545216	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr13:60545216G>A	ENST00000400324.4	-	16	1949	c.1729C>T	c.(1729-1731)Cct>Tct	p.P577S	DIAPH3_ENST00000377908.2_Missense_Mutation_p.P566S|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Missense_Mutation_p.P507S|DIAPH3_ENST00000267215.4_Missense_Mutation_p.P577S|DIAPH3_ENST00000400320.1_Missense_Mutation_p.P531S|DIAPH3_ENST00000400330.1_Missense_Mutation_p.P577S	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	577	FH1.|Pro-rich.				actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		GGAGGCGGAGGAGGAAGTGCT	0.552000													5	31					0	0	0.014758	0	0
OR5H15	403274	broad.mit.edu	37	3	97887879	97887879	+	Silent	SNP	T	T	C			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr3:97887879T>C	ENST00000356526.2	+	1	336	c.336T>C	c.(334-336)tgT>tgC	p.C112C		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C112C(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						CCACAGAATGTTTTCTCTTGG	0.378000													3	156					0	0	0.004672	0	0
TEAD1	7003	broad.mit.edu	37	11	12901270	12901270	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr11:12901270G>T	ENST00000361905.4	+	6	966	c.301G>T	c.(301-303)Gat>Tat	p.D101Y	TEAD1_ENST00000526600.1_Missense_Mutation_p.D20Y|TEAD1_ENST00000361985.2_Missense_Mutation_p.D116Y|TEAD1_ENST00000334310.6_Missense_Mutation_p.D105Y|TEAD1_ENST00000527636.1_Missense_Mutation_p.D116Y|TEAD1_ENST00000527575.1_Missense_Mutation_p.D116Y	NM_021961.5	NP_068780.2	P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	116					hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GACTGCAAAGGATAAGGCCCT	0.562000													5	62					2.0095e-06	2.65357e-06	0.001984	1	0
EPHA4	2043	broad.mit.edu	37	2	222321461	222321461	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr2:222321461C>T	ENST00000281821.2	-	7	1516	c.1475G>A	c.(1474-1476)cGg>cAg	p.R492Q	EPHA4_ENST00000409938.1_Missense_Mutation_p.R492Q|EPHA4_ENST00000392071.4_Missense_Mutation_p.R441Q|EPHA4_ENST00000409854.1_Missense_Mutation_p.R492Q	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	492	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GGCAGCTGTCCGAACTATACG	0.468000													14	65					0	0	0.004007	0	0
RTKN	6242	broad.mit.edu	37	2	74653510	74653510	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr2:74653510T>C	ENST00000305557.5	-	13	2098	c.1513A>G	c.(1513-1515)Acc>Gcc	p.T505A	RTKN_ENST00000233330.6_Missense_Mutation_p.T468A|RTKN_ENST00000272430.5_Missense_Mutation_p.T518A	NM_033046.2	NP_149035.1	Q9BST9	RTKN_HUMAN	rhotekin	518	Pro-rich.				apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity			endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						AGGGAAAAGGTTCGGGGTCTC	0.677000													23	80					0	0	0.014323	0	0
HSD17B4	3295	broad.mit.edu	37	5	118872146	118872146	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr5:118872146A>C	ENST00000504811.1	+	24	2281	c.2097A>C	c.(2095-2097)aaA>aaC	p.K699N	HSD17B4_ENST00000515320.1_Missense_Mutation_p.K656N|HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000256216.6_Missense_Mutation_p.K674N|HSD17B4_ENST00000509514.1_Missense_Mutation_p.K412N|HSD17B4_ENST00000513628.1_Missense_Mutation_p.K537N|HSD17B4_ENST00000414835.2_Missense_Mutation_p.K534N|HSD17B4_ENST00000510025.1_Missense_Mutation_p.K650N	NM_001199291.1	NP_001186220.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	674	SCP2.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	GTTCTGGAAAAGTGTACCAAG	0.418000													11	43					0	0	0.020292	0	0
C14orf37	145407	broad.mit.edu	37	14	58605875	58605875	+	Silent	SNP	G	G	A			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr14:58605875G>A	ENST00000267485.7	-	2	396	c.202C>T	c.(202-204)Ctg>Ttg	p.L68L	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	68						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						GAGACCACCAGTTGGGGAGTC	0.453000													40	136					0	0	0.006999	0	0
C11orf82	220042	broad.mit.edu	37	11	82644784	82644784	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr11:82644784G>C	ENST00000533655.1	+	6	2616	c.2404G>C	c.(2404-2406)Gat>Cat	p.D802H	C11orf82_ENST00000430323.2_Missense_Mutation_p.D802H|C11orf82_ENST00000329143.3_Missense_Mutation_p.D501H|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000528759.1_3'UTR	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	802					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						TTCAGATCTTGATGGTAACTA	0.363000													3	23					0	0	0.004672	0	0
HGD	3081	broad.mit.edu	37	3	120394679	120394679	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr3:120394679G>A	ENST00000283871.5	-	2	506	c.47C>T	c.(46-48)tCa>tTa	p.S16L	HGD_ENST00000488183.1_5'UTR	NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	16					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		AGGATCCTCTGAAGAACACTC	0.438000													23	76					0	0	0.021523	0	0
A1CF	29974	broad.mit.edu	37	10	52576013	52576013	+	Silent	SNP	G	G	A			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr10:52576013G>A	ENST00000395489.2	-	11	1269	c.873C>T	c.(871-873)gtC>gtT	p.V291V	A1CF_ENST00000374001.1_Silent_p.V298V|A1CF_ENST00000373995.3_Silent_p.V306V|A1CF_ENST00000373993.1_Silent_p.V298V|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000373997.3_Silent_p.V298V|ASAH2B_ENST00000483649.1_3'UTR|A1CF_ENST00000395495.1_Silent_p.V243V|A1CF_ENST00000282641.2_Silent_p.V298V	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	298	RRM 3.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TTGCTAGGGTGACTTCAATGG	0.478000													16	40					0	0	0.006122	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84532386	84532386	+	RNA	SNP	C	C	G			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr9:84532386C>G	ENST00000527857.1	+	0	2408					NR_026851.1																						ATTGCATGATCCAGAGACATC	0.478000													14	74					0	0	0.004007	0	0
AHNAK	79026	broad.mit.edu	37	11	62293150	62293150	+	Silent	SNP	T	T	C			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr11:62293150T>C	ENST00000378024.4	-	5	9013	c.8739A>G	c.(8737-8739)gaA>gaG	p.E2913E	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2913					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCACATCCACTTCAGGGCCCT	0.517000													76	294					0	0	0.014410	0	0
SH2D3C	10044	broad.mit.edu	37	9	130507309	130507309	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr9:130507309C>T	ENST00000314830.8	-	7	1447	c.1334G>A	c.(1333-1335)cGt>cAt	p.R445H	SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000429553.1_Missense_Mutation_p.R91H|SH2D3C_ENST00000373276.3_Missense_Mutation_p.R377H|SH2D3C_ENST00000420366.1_Missense_Mutation_p.R287H|SH2D3C_ENST00000373274.3_Missense_Mutation_p.R285H|SH2D3C_ENST00000373277.4_Missense_Mutation_p.R288H	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	445				R -> C (in Ref. 1; AAD28246 and 2; AAQ89948).	JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTCACTGGAACGGCGGGCGAC	0.657000													65	49					0	0	0.014410	0	0
ZNF671	79891	broad.mit.edu	37	19	58232120	58232120	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr19:58232120C>T	ENST00000317398.6	-	4	1429	c.1334G>A	c.(1333-1335)aGa>aAa	p.R445K	AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000335820.3_Missense_Mutation_p.R347K	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	445					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GCTGTGAATTCTCCAGTGTAC	0.463000													17	57					0	0	0.004007	0	0
DNAH7	56171	broad.mit.edu	37	2	196664030	196664030	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr2:196664030G>A	ENST00000312428.6	-	55	10443	c.10343C>T	c.(10342-10344)gCt>gTt	p.A3448V		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3448	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTGGTCATCAGCAAATTTTAG	0.388000													4	135					0	0	0.009096	0	0
PIK3CB	5291	broad.mit.edu	37	3	138383967	138383967	+	Silent	SNP	A	A	C			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr3:138383967A>C	ENST00000477593.1	-	19	2656	c.2583T>G	c.(2581-2583)gcT>gcG	p.A861A	PIK3CB_ENST00000289153.2_Silent_p.A861A|PIK3CB_ENST00000544716.1_Silent_p.A312A			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	861	PI3K/PI4K.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						GCTGAATGTCAGCAATTGTTT	0.448000													10	35					0	0	0.006214	0	0
LOC100294341	100294341	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs145439557	by1000genomes	TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr17:43587576A>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							tctgaaaagaaaagaaaaaaa	0.428000													4	35					0	0	0.009096	0	0
LOC100294341	100294341	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													4	32					0	0	0.009096	0	0
SETX	23064	broad.mit.edu	37	9	135203150	135203150	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr9:135203150C>G	ENST00000372169.2	-	10	4017	c.3835G>C	c.(3835-3837)Gag>Cag	p.E1279Q	SETX_ENST00000393220.1_Missense_Mutation_p.E1279Q|SETX_ENST00000224140.5_Missense_Mutation_p.E1279Q			Q7Z333	SETX_HUMAN	senataxin	1279					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GAAGTTGGCTCAGGACACTGA	0.428000													26	177					0	0	0.004656	0	0
ANKRD36BP2	645784	broad.mit.edu	37	2	89100762	89100766	+	RNA	DEL	TGAAT	TGAAT	-	rs74666751	by1000genomes	TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr2:89100762_89100766delTGAAT	ENST00000393525.3	+	0	1236_1240																											GGTTGGTAAATGAATTGAATCATTT	0.332													8	117	---	---	---	---					
CEP85L	387119	broad.mit.edu	37	6	118887049	118887049	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr6:118887049delT	ENST00000368491.3	-	3	1284	c.663delA	c.(661-663)aafs	p.K221fs	CEP85L_ENST00000360290.3_Frame_Shift_Del_p.K119fs|CEP85L_ENST00000368488.5_Frame_Shift_Del_p.K224fs|CEP85L_ENST00000419517.2_Frame_Shift_Del_p.K221fs|CEP85L_ENST00000392500.3_Frame_Shift_Del_p.K224fs|CEP85L_ENST00000472713.1_5'UTR	NM_001042475.2	NP_001035940.1	Q5SZL2	CF204_HUMAN	centrosomal protein 85kDa-like	221						centrosome											TTGATGACCGTTTTTTATTTA	0.418													30	88	---	---	---	---					
RELN	5649	broad.mit.edu	37	7	103629803	103629804	+	Translation_Start_Site	INS	-	-	GCCGCC			TCGA-CN-6996-01A-11D-1912-08	TCGA-CN-6996-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c063bec5-c716-4ea2-843a-e9f0bec3b540	5a2e6c40-39c0-4385-923a-10c862ad731a	g.chr7:103629803_103629804insGCCGCC	ENST00000428762.1	-	0	159_160				RELN_ENST00000343529.5_Start_Codon_Ins|RELN_ENST00000424685.2_Start_Codon_Ins	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin						axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTGCGCTCCATgccgccgccgc	0.723													2	4	---	---	---	---					
