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
OPLAH	26873	broad.mit.edu	37	8	145111642	145111642	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr8:145111642C>A	ENST00000426825.1	-	13	1804	c.1723G>T	c.(1723-1725)Gag>Tag	p.E575*	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	575							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	AGGAAGCTCTCAGTGCTGATC	0.672000													3	43					1	1	1	1	0
RPS6KA6	27330	broad.mit.edu	37	X	83403065	83403065	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chrX:83403065T>C	ENST00000262752.2	-	4	332	c.325A>G	c.(325-327)Aaa>Gaa	p.K109E	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.K109E	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	109	Protein kinase 1.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						AAAGAGGCTTTTTTTAACACC	0.299000													5	13					0	0	1	0	0
COL27A1	85301	broad.mit.edu	37	9	117033023	117033023	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr9:117033023G>C	ENST00000356083.3	+	36	3962	c.3571G>C	c.(3571-3573)Gag>Cag	p.E1191Q	COL27A1_ENST00000477421.2_3'UTR	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1191	Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GCCAGGCCTTGAGGGTGACAG	0.612000													4	45					0	0	1	0	0
ANKRD36BP2	645784	broad.mit.edu	37	2	89104958	89104958	+	RNA	SNP	A	A	G			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr2:89104958A>G	ENST00000393525.3	+	0	4898																											AATTCAAATCATTGATTTCTG	0.289000													2	5					0	0	1	0	0
TFAP2B	7021	broad.mit.edu	37	6	50810922	50810922	+	Silent	SNP	C	C	T			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr6:50810922C>T	ENST00000263046.4	+	8	1393	c.1227C>T	c.(1225-1227)ctC>ctT	p.L409L	TFAP2B_ENST00000393655.3_Silent_p.L400L			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	400				QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047).	nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					ACTTCAGCCTCATCACGCACG	0.632000													15	82					0	0	1	0	0
PRRX1	5396	broad.mit.edu	37	1	170633563	170633563	+	Silent	SNP	G	G	C			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr1:170633563G>C	ENST00000239461.6	+	1	517	c.204G>C	c.(202-204)ccG>ccC	p.P68P	PRRX1_ENST00000497230.2_Silent_p.P68P|PRRX1_ENST00000367760.3_Silent_p.P68P	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	68						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGGAGTCGCCGGGACTCACCA	0.706000													5	10					0	0	1	0	0
LILRA5	353514	broad.mit.edu	37	19	54823368	54823368	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr19:54823368G>A	ENST00000301219.3	-	4	294	c.175C>T	c.(175-177)Cgg>Tgg	p.R59W	LILRA5_ENST00000432233.3_Missense_Mutation_p.R59W|AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000346508.3_Missense_Mutation_p.R47W|LILRA5_ENST00000446712.3_Missense_Mutation_p.R47W	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	59	Ig-like C2-type 1.				innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GAGTTCCCCCGGCTGATCACA	0.607000													11	62					0	0	1	0	0
MAGEB16	139604	broad.mit.edu	37	X	35820674	35820674	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chrX:35820674G>T	ENST00000399989.1	+	2	640	c.361G>T	c.(361-363)Gtg>Ttg	p.V121L	MAGEB16_ENST00000399988.1_Missense_Mutation_p.V121L|MAGEB16_ENST00000399985.1_Missense_Mutation_p.V121L|MAGEB16_ENST00000399987.1_Missense_Mutation_p.V121L|MAGEB16_ENST00000399992.1_Missense_Mutation_p.V153L	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	121	MAGE.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						GGCTTTTTTGGTGAATTTCAT	0.438000													7	18					1.58986e-06	1.82743e-06	1	1	0
SLC26A3	1811	broad.mit.edu	37	7	107431530	107431530	+	Missense_Mutation	SNP	G	G	A	rs143515876		TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr7:107431530G>A	ENST00000340010.5	-	5	717	c.533C>T	c.(532-534)gCg>gTg	p.A178V	SLC26A3_ENST00000422236.2_Missense_Mutation_p.A143V	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	178					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TGATGCCGCCGCCGCCACCCT	0.483000													3	46					0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55224535	55224535	+	RNA	SNP	C	C	A			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr19:55224535C>A	ENST00000413439.1	+	0	1769																											GGTGGACATCCAGGGGTCCCG	0.592000													6	24					3.59834e-05	3.99815e-05	1	1	0
ANKRD30A	91074	broad.mit.edu	37	10	37430735	37430735	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr10:37430735G>T	ENST00000374660.1	+	7	841	c.742G>T	c.(742-744)Gat>Tat	p.D248Y	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.D248Y|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.D248Y			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	304						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAAAACACCTGATGAGGCTGC	0.517000													7	40					2.7689e-08	3.25752e-08	1	1	0
KIAA0556	23247	broad.mit.edu	37	16	27782971	27782971	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr16:27782971G>A	ENST00000261588.4	+	22	4215	c.4196G>A	c.(4195-4197)gGc>gAc	p.G1399D		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1399										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						ATGCCCTGTGGCTGTATCCTT	0.612000													10	71					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50985713	50985713	+	Silent	SNP	A	A	T			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr18:50985713A>T	ENST00000442544.2	+	24	4120	c.3504A>T	c.(3502-3504)ccA>ccT	p.P1168P	DCC_ENST00000581580.1_Silent_p.P803P	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1168					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TTGAAAAGCCATCTGGCACTG	0.517000													23	140					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51165512	51165512	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr19:51165512C>A	ENST00000293441.1	-	23	6214	c.6196G>T	c.(6196-6198)Ggg>Tgg	p.G2066W	SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391814.1_Missense_Mutation_p.G2074W|SHANK1_ENST00000391813.1_Missense_Mutation_p.G1453W|SHANK1_ENST00000359082.3_Missense_Mutation_p.G2057W	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	2066					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		AAGGCTCCCCCGAGCCCCCCG	0.687000													3	16					0.150653	0.152175	1	1	0
VPS18	57617	broad.mit.edu	37	15	41188228	41188228	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr15:41188228G>A	ENST00000220509.5	+	2	523	c.184G>A	c.(184-186)Gtc>Atc	p.V62I	VPS18_ENST00000558474.1_Missense_Mutation_p.V62I	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	62					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CAGTCTTGTCGTCTCCAGCAA	0.532000													26	200					0	0	1	0	0
MCM3AP	8888	broad.mit.edu	37	21	47697526	47697526	+	Silent	SNP	G	G	C			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr21:47697526G>C	ENST00000397708.1	-	6	2027	c.1773C>G	c.(1771-1773)tcC>tcG	p.S591S	MCM3AP_ENST00000291688.1_Silent_p.S591S			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	591					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					GGGTACTGAGGGAGAGCACAC	0.567000													17	97					0	0	1	0	0
PUS7L	83448	broad.mit.edu	37	12	44132173	44132173	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr12:44132173G>C	ENST00000416848.2	-	6	1872	c.1384C>G	c.(1384-1386)Ctt>Gtt	p.L462V	PUS7L_ENST00000344862.5_Missense_Mutation_p.L462V|PUS7L_ENST00000431332.3_Missense_Mutation_p.L149V|PUS7L_ENST00000551923.1_Missense_Mutation_p.L462V	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	462	TRUD.				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		TCTGGTGTAAGAAACAATTTT	0.299000													14	47					0	0	1	0	0
FAM74A3	728495	broad.mit.edu	37	9	40716192	40716192	+	RNA	SNP	T	T	A			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr9:40716192T>A	ENST00000604146.1	+	0	531					NR_026801.1															endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CAAGAAGATGTGGAGAGAGTT	0.458000													8	86					0	0	1	0	0
ARHGAP17	55114	broad.mit.edu	37	16	24942523	24942523	+	Silent	SNP	C	C	T			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr16:24942523C>T	ENST00000289968.6	-	19	2166	c.2097G>A	c.(2095-2097)cgG>cgA	p.R699R	ARHGAP17_ENST00000303665.5_Silent_p.R621R|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	699	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		TGGAGTACCTCCGGGGTGCTG	0.667000													17	168					0	0	1	0	0
NEK8	284086	broad.mit.edu	37	17	27067963	27067963	+	Silent	SNP	G	G	A			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr17:27067963G>A	ENST00000268766.6	+	12	1726	c.1692G>A	c.(1690-1692)ctG>ctA	p.L564L	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	564						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					AGCCTCTGCTGAGTATAGACC	0.622000													5	23					0	0	1	0	0
PTPN7	5778	broad.mit.edu	37	1	202121776	202121776	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr1:202121776C>A	ENST00000309017.3	-	8	1857	c.1084G>T	c.(1084-1086)Gac>Tac	p.D362Y	PTPN7_ENST00000308986.5_Missense_Mutation_p.D257Y|PTPN7_ENST00000492977.1_5'UTR|PTPN7_ENST00000544762.1_Missense_Mutation_p.D33Y|PTPN7_ENST00000543735.1_Missense_Mutation_p.D86Y|PTPN7_ENST00000367279.4_Missense_Mutation_p.D296Y	NM_001199797.1|NM_002832.3	NP_001186726.1|NP_002823.3	P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type 7	257						cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						GTCTGATGGTCTGGCCAGGCC	0.617000													7	95					2.17888e-05	2.476e-05	1	1	0
XKRX	402415	broad.mit.edu	37	X	100169411	100169411	+	Silent	SNP	A	A	G			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chrX:100169411A>G	ENST00000328526.5	-	3	1870	c.1305T>C	c.(1303-1305)tgT>tgC	p.C435C	XKRX_ENST00000372956.2_Silent_p.C422C|XKRX_ENST00000468904.1_3'UTR	NM_212559.2	NP_997724.2	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	422						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						GACAGCAGACACAATGGAGGT	0.468000													28	80					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7015760	7015760	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr18:7015760C>A	ENST00000389658.3	-	22	3180	c.3087G>T	c.(3085-3087)gaG>gaT	p.E1029D		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1029	Laminin EGF-like 11.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGTGCCCATCCTCACATTCTT	0.557000													20	141					2.89027e-11	3.52472e-11	1	1	0
IGDCC4	57722	broad.mit.edu	37	15	65703463	65703463	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr15:65703463C>T	ENST00000352385.2	-	2	525	c.316G>A	c.(316-318)Gag>Aag	p.E106K		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	106	Ig-like C2-type 1.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GGGACTGACTCGTCACTGCCA	0.617000													7	50					0	0	1	0	0
CENPJ	55835	broad.mit.edu	37	13	25479993	25479993	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr13:25479993C>G	ENST00000381884.4	-	7	2368	c.2183G>C	c.(2182-2184)aGa>aCa	p.R728T	CENPJ_ENST00000545981.1_Missense_Mutation_p.R728T	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	728					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		GCTATCCTCTCTGCTGCTGAT	0.453000													20	124					0	0	1	0	0
TARBP1	6894	broad.mit.edu	37	1	234563084	234563084	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr1:234563084G>A	ENST00000040877.1	-	19	3301	c.3302C>T	c.(3301-3303)gCg>gTg	p.A1101V		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1101					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			AATATTTGCCGCACAGTCATG	0.299000													3	54					0	0	1	0	0
INHBA	3624	broad.mit.edu	37	7	41729713	41729713	+	Silent	SNP	C	C	T			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr7:41729713C>T	ENST00000242208.4	-	3	1062	c.816G>A	c.(814-816)aaG>aaA	p.K272K	INHBA_ENST00000442711.1_Silent_p.K272K|AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000464515.1_5'UTR	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	272					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						cacctccgcccttctttttcc	0.577000										TSP Lung(11;0.080)			3	30					0	0	1	0	0
APEX2	27301	broad.mit.edu	37	X	55033574	55033574	+	Silent	SNP	C	C	G			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chrX:55033574C>G	ENST00000374987.3	+	6	1329	c.1263C>G	c.(1261-1263)ctC>ctG	p.L421L		NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	421					cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						TGAGCGCCCTCATGACCCCGA	0.552000								Other BER factors					7	11					0	0	1	0	0
CHODL	140578	broad.mit.edu	37	21	19632535	19632535	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr21:19632535C>T	ENST00000299295.2	+	4	957	c.566C>T	c.(565-567)cCt>cTt	p.P189L	CHODL_ENST00000400135.1_Missense_Mutation_p.P148L|CHODL_ENST00000543733.1_Missense_Mutation_p.P170L|CHODL_ENST00000400127.1_Missense_Mutation_p.P148L|CHODL_ENST00000400128.1_Missense_Mutation_p.P148L|CHODL_ENST00000338326.3_Missense_Mutation_p.P148L|CHODL_ENST00000400131.1_Missense_Mutation_p.P148L	NM_001204175.1|NM_024944.2	NP_001191104.1|NP_079220.2	Q9H9P2	CHODL_HUMAN	chondrolectin	189					muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding			kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		CCAACAGCCCCTGTAGAAAAG	0.299000													13	96					0	0	1	0	0
EPB41	2035	broad.mit.edu	37	1	29320026	29320026	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr1:29320026A>G	ENST00000343067.4	+	3	780	c.653A>G	c.(652-654)gAt>gGt	p.D218G	EPB41_ENST00000398863.2_Missense_Mutation_p.D218G|EPB41_ENST00000373797.1_Missense_Mutation_p.D218G|EPB41_ENST00000373798.1_Missense_Mutation_p.D218G|EPB41_ENST00000373800.3_Missense_Mutation_p.D9G|EPB41_ENST00000356093.2_Missense_Mutation_p.D218G|EPB41_ENST00000349460.4_Missense_Mutation_p.D9G|EPB41_ENST00000347529.3_Missense_Mutation_p.D218G	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)	218	FERM.				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		TCTTTGTTGGATGACACAGTT	0.383000													9	77					0	0	1	0	0
LHCGR	3973	broad.mit.edu	37	2	48925883	48925883	+	Missense_Mutation	SNP	T	T	G			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr2:48925883T>G	ENST00000294954.7	-	9	758	c.737A>C	c.(736-738)cAg>cCg	p.Q246P	STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000405626.1_Missense_Mutation_p.Q246P|LHCGR_ENST00000403273.1_Missense_Mutation_p.Q246P|LHCGR_ENST00000344775.3_Intron|LHCGR_ENST00000401907.1_Missense_Mutation_p.Q246P	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	246					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	AATTAGCCTCTGAATGGACTC	0.423000													10	56					0	0	1	0	0
ZNF730	100129543	broad.mit.edu	37	19	23329199	23329199	+	Silent	SNP	C	C	A			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr19:23329199C>A	ENST00000597761.2	+	4	1552	c.1353C>A	c.(1351-1353)ccC>ccA	p.P451P		NM_001277403.1	NP_001264332.1			zinc finger protein 730											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						GAGAGAAACCCTATGAATGTG	0.383000													7	52					0.000157383	0.000171069	1	1	0
MAP6	4135	broad.mit.edu	37	11	75319192	75319192	+	Missense_Mutation	SNP	G	G	A	rs148736062		TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr11:75319192G>A	ENST00000434603.2	-	2	1145	c.1081C>T	c.(1081-1083)Cgc>Tgc	p.R361C	MAP6_ENST00000526740.1_Missense_Mutation_p.R32C|MAP6_ENST00000304771.3_Missense_Mutation_p.R361C	NM_207577.1	NP_997460.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	361	Calmodulin-binding (By similarity).					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					TAGAGGCTGCGTATTCTTCTG	0.507000													6	60					0	0	1	0	0
SLC40A1	30061	broad.mit.edu	37	2	190437623	190437623	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr2:190437623C>T	ENST00000261024.2	-	4	762	c.336G>A	c.(334-336)atG>atA	p.M112I		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	112					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			GTAAGAAAACCATCATCAGGA	0.428000													13	65					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147914546	147914546	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr7:147914546G>T	ENST00000361727.3	+	19	3693	c.3177G>T	c.(3175-3177)aaG>aaT	p.K1059N	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.K118N	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1059	Laminin G-like 4.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GCACCACCAAGGCGCCCTGCA	0.582000										HNSCC(39;0.1)			14	104					1.02788e-11	1.26899e-11	1	1	0
PRPF4	9128	broad.mit.edu	37	9	116053823	116053823	+	Silent	SNP	G	G	A	rs61737726	byFrequency	TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr9:116053823G>A	ENST00000374199.4	+	14	1850	c.1449G>A	c.(1447-1449)ccG>ccA	p.P483P	PRPF4_ENST00000374198.4_Silent_p.P484P			O43172	PRP4_HUMAN	pre-mRNA processing factor 4	484						Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						GCTGGTCCCCGCTGAAGACTC	0.522000													8	82					0	0	1	0	0
MOCOS	55034	broad.mit.edu	37	18	33778703	33778703	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr18:33778703G>T	ENST00000261326.5	+	3	304	c.283G>T	c.(283-285)Gag>Tag	p.E95*		NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	95					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	TGACACTGTGGAGCAGGTGCG	0.537000													11	103					8.60227e-14	1.07528e-13	1	1	0
PRDX2	7001	broad.mit.edu	37	19	12911052	12911052	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr19:12911052C>T	ENST00000301522.2	-	4	447	c.319G>A	c.(319-321)Gtg>Atg	p.V107M	CTD-2659N19.10_ENST00000585496.1_RNA|PRDX2_ENST00000334482.5_Missense_Mutation_p.V107M	NM_005809.4	NP_005800.3	P32119	PRDX2_HUMAN	peroxiredoxin 2	107	Thioredoxin.				anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|removal of superoxide radicals		thioredoxin peroxidase activity			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						CGTCTGGTCACGTCAGCAAGC	0.622000													13	110					0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62019102	62019102	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr17:62019102C>T	ENST00000578147.1	-	24	4616	c.4540G>A	c.(4540-4542)Gat>Aat	p.D1514N	SCN4A_ENST00000435607.1_Missense_Mutation_p.D1514N			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1514					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	AACATATCATCGATGCCCGAC	0.547000													8	88					0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	240979631	240979631	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr1:240979631C>G	ENST00000366565.1	-	11	1150	c.769G>C	c.(769-771)Gag>Cag	p.E257Q	RGS7_ENST00000366563.1_Missense_Mutation_p.E257Q|RGS7_ENST00000446183.2_Missense_Mutation_p.E173Q|RGS7_ENST00000401882.1_Missense_Mutation_p.E204Q|RGS7_ENST00000366564.1_Missense_Mutation_p.E257Q|RGS7_ENST00000366562.4_Missense_Mutation_p.E257Q|RGS7_ENST00000348120.2_Missense_Mutation_p.E204Q|RGS7_ENST00000407727.1_Missense_Mutation_p.E257Q|RGS7_ENST00000331110.7_Missense_Mutation_p.E231Q	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	257	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TGTTGTAACTCATCTTCTGTT	0.363000													23	258					0	0	1	0	0
RGS3	5998	broad.mit.edu	37	9	116268695	116268695	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr9:116268695A>T	ENST00000374140.2	+	13	1216	c.1007A>T	c.(1006-1008)cAg>cTg	p.Q336L	RGS3_ENST00000374136.1_5'UTR|RGS3_ENST00000350696.5_Missense_Mutation_p.Q336L|RGS3_ENST00000343817.5_Missense_Mutation_p.Q55L|RGS3_ENST00000317613.6_Missense_Mutation_p.Q224L|RGS3_ENST00000394646.3_Missense_Mutation_p.Q55L	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	336	PDZ.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GCAGGGCTGCAGCAGCTGGAC	0.622000													3	3					0	0	1	0	0
KCNH4	23415	broad.mit.edu	37	17	40321564	40321564	+	Silent	SNP	C	C	A	rs148380980	byFrequency	TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr17:40321564C>A	ENST00000264661.3	-	9	1853	c.1521G>T	c.(1519-1521)ccG>ccT	p.P507P	KCNH4_ENST00000607371.1_Silent_p.P507P	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	507					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GCTGCTTGAGCGGCCGCGGCA	0.622000													10	61					2.80697e-09	3.34164e-09	1	1	0
TF	7018	broad.mit.edu	37	3	133467289	133467289	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr3:133467289G>C	ENST00000402696.3	+	2	562	c.77G>C	c.(76-78)aGa>aCa	p.R26T	TF_ENST00000475382.1_3'UTR|TFP1_ENST00000460564.1_RNA|TF_ENST00000264998.3_Intron	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	26	Transferrin-like 1.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	AAAACTGTGAGATGGTGTGCA	0.572000													6	70					0	0	1	0	0
HDHD1	8226	broad.mit.edu	37	X	7023808	7023808	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chrX:7023808C>A	ENST00000381077.5	-	2	209	c.133G>T	c.(133-135)Gta>Tta	p.V45L	HDHD1_ENST00000540122.1_Missense_Mutation_p.V45L|HDHD1_ENST00000498474.2_5'UTR|HDHD1_ENST00000412827.2_Missense_Mutation_p.V45L|HDHD1_ENST00000424830.2_Missense_Mutation_p.V68L	NM_001178136.1|NM_012080.4	NP_001171607.1|NP_036212.3	Q08623	HDHD1_HUMAN	haloacid dehalogenase-like hydrolase domain containing 1	45					nucleotide metabolic process		metal ion binding|phosphatase activity			breast(2)|large_intestine(1)|lung(3)	6						AGGGACTTTACATCCCAGCTG	0.418000													3	9					0.000602214	0.000647542	1	1	0
PKD1L1	168507	broad.mit.edu	37	7	47832227	47832227	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr7:47832227C>T	ENST00000289672.2	-	56	8574	c.8524G>A	c.(8524-8526)Gag>Aag	p.E2842K		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2842					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GGTCTTACCTCAGCAGCTTGG	0.388000													15	107					0	0	1	0	0
RIT2	6014	broad.mit.edu	37	18	40695402	40695402	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr18:40695402G>C	ENST00000589109.1	-	1	254	c.83C>G	c.(82-84)gCa>gGa	p.A28G	RIT2_ENST00000282028.4_Missense_Mutation_p.A28G|RIT2_ENST00000590910.1_Missense_Mutation_p.A28G|RIT2_ENST00000326695.5_Missense_Mutation_p.A28G	NM_001272077.1	NP_001259006.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	28					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AACTCCCCCTGCTCCCAGCAT	0.517000													33	204					0	0	1	0	0
ZNF695	57116	broad.mit.edu	37	1	247150277	247150277	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr1:247150277G>C	ENST00000339986.7	-	4	1687	c.1540C>G	c.(1540-1542)Cat>Gat	p.H514D	ZNF695_ENST00000498046.2_Intron|ZNF695_ENST00000487338.2_Intron	NM_020394.4	NP_065127.4	Q8IW36	ZN695_HUMAN	zinc finger protein 695	514					regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TCTCAGGTATGAGTTTTCTCA	0.353000													4	49					0	0	1	0	0
ZNF10	7556	broad.mit.edu	37	12	133732425	133732425	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr12:133732425A>T	ENST00000248211.6	+	5	815	c.593A>T	c.(592-594)gAt>gTt	p.D198V	ZNF268_ENST00000416488.1_Intron|ZNF10_ENST00000402932.2_Intron|CTD-2140B24.4_ENST00000540096.2_Intron|ZNF10_ENST00000426665.2_Missense_Mutation_p.D198V	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	198				Missing (in Ref. 1).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TTAAAACATGATTTAGTTCTT	0.363000													4	82					0	0	1	0	0
SYNPO2L	79933	broad.mit.edu	37	10	75406952	75406952	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr10:75406952A>G	ENST00000394810.2	-	4	2607	c.2458T>C	c.(2458-2460)Ttt>Ctt	p.F820L	SYNPO2L_ENST00000372872.4_Intron|SYNPO2L_ENST00000372873.4_Missense_Mutation_p.F596L	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	820	Pro-rich.					cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					TGGGGGAAAAAGGGAGAGAGC	0.577000													3	107					0	0	1	0	0
TMEM130	222865	broad.mit.edu	37	7	98457809	98457809	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr7:98457809C>A	ENST00000450876.1	-	3	1607	c.292G>T	c.(292-294)Ggg>Tgg	p.G98W	TMEM130_ENST00000546258.1_Missense_Mutation_p.G163W|TMEM130_ENST00000339375.4_Missense_Mutation_p.G182W|TMEM130_ENST00000345589.4_Missense_Mutation_p.G80W|TMEM130_ENST00000416379.2_Missense_Mutation_p.G182W			Q8N3G9	TM130_HUMAN	transmembrane protein 130	182						Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TACCCGTCCCCGAAGTCCCAG	0.577000													5	27					3.59834e-05	3.99815e-05	1	1	0
TCHHL1	126637	broad.mit.edu	37	1	152058585	152058585	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr1:152058585C>G	ENST00000368806.1	-	3	1637	c.1573G>C	c.(1573-1575)Gag>Cag	p.E525Q		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	525							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TCCTCCTCCTCAACTGGTTGG	0.512000													15	149					0	0	1	0	0
GLYAT	10249	broad.mit.edu	37	11	58482800	58482800	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr11:58482800G>A	ENST00000344743.3	-	3	319	c.178C>T	c.(178-180)Cct>Tct	p.P60S	GLYAT_ENST00000529732.1_Missense_Mutation_p.P60S|GLYAT_ENST00000278400.3_Missense_Mutation_p.P60S	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	60					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	TGCTCCTGAGGGCAGACAACC	0.413000													8	57					0	0	1	0	0
CDT1	81620	broad.mit.edu	37	16	88873493	88873493	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr16:88873493C>T	ENST00000301019.4	+	8	1776	c.1157C>T	c.(1156-1158)tCt>tTt	p.S386F		NM_030928.3	NP_112190.2	Q9H211	CDT1_HUMAN	chromatin licensing and DNA replication factor 1	386					DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(80;0.0476)		GCCCTGCGCTCTGCTGCGCCC	0.672000													7	70					0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164908384	164908384	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr3:164908384G>C	ENST00000475390.1	-	2	678	c.235C>G	c.(235-237)Cct>Gct	p.P79A	SLITRK3_ENST00000241274.3_Missense_Mutation_p.P79A			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	79						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						AGTTTAAAAGGTCTTGACCAG	0.338000										HNSCC(40;0.11)			6	67					0	0	1	0	0
ADAM2	2515	broad.mit.edu	37	8	39695678	39695678	+	Silent	SNP	G	G	A			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr8:39695678G>A	ENST00000265708.4	-	1	130	c.27C>T	c.(25-27)agC>agT	p.S9S	ADAM2_ENST00000521880.1_Silent_p.S9S|ADAM2_ENST00000523181.1_5'UTR|ADAM2_ENST00000347580.4_Silent_p.S9S|ADAM2_ENST00000379853.2_Silent_p.S9S	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	9					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CGCCGAGCCCGCTGAGCAGAA	0.577000													4	45					0	0	1	0	0
ALDH16A1	126133	broad.mit.edu	37	19	49967907	49967907	+	Missense_Mutation	SNP	C	C	T	rs138995716	byFrequency	TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr19:49967907C>T	ENST00000293350.4	+	12	1619	c.1456C>T	c.(1456-1458)Cgg>Tgg	p.R486W	ALDH16A1_ENST00000433981.2_Missense_Mutation_p.R321W|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.R435W|CTD-3148I10.9_ENST00000599536.1_3'UTR|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.R323W	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	486							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		TGAGTATCTGCGGCCCTCAGG	0.657000													5	199					0	0	1	0	0
ALS2	57679	broad.mit.edu	37	2	202589172	202589172	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr2:202589172C>A	ENST00000264276.6	-	21	3730	c.3358G>T	c.(3358-3360)Ggt>Tgt	p.G1120C	ALS2_ENST00000457679.2_Missense_Mutation_p.G432C	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1120					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						AATACTTCACCAGAAGCATAG	0.378000													19	151					2.98393e-07	3.46969e-07	1	1	0
LAMB1	3912	broad.mit.edu	37	7	107580787	107580787	+	Silent	SNP	G	G	T			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr7:107580787G>T	ENST00000393561.1	-	23	3664	c.3480C>A	c.(3478-3480)ccC>ccA	p.P1160P	LAMB1_ENST00000222399.6_Silent_p.P1136P			P07942	LAMB1_HUMAN	laminin, beta 1	1136	Laminin EGF-like 13.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAATGCCCCTGGGGTCACAGT	0.522000													3	45					0.004672	0.00481649	1	1	0
SPZ1	84654	broad.mit.edu	37	5	79616461	79616461	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr5:79616461G>C	ENST00000296739.4	+	1	672	c.427G>C	c.(427-429)Gag>Cag	p.E143Q		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		AAAGAAACAGGAGATGATATT	0.358000													3	83					0	0	1	0	0
LIN28A	79727	broad.mit.edu	37	1	26751900	26751900	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr1:26751900C>T	ENST00000326279.6	+	3	449	c.335C>T	c.(334-336)cCt>cTt	p.P112L	LIN28A_ENST00000254231.4_Missense_Mutation_p.P112L	NM_024674.4	NP_078950.1	Q9H9Z2	LN28A_HUMAN	lin-28 homolog A (C. elegans)	112	CSD.				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing|stem cell maintenance	cytoplasmic mRNA processing body|nucleolus|stress granule	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)	8						GTCACCGGACCTGGTGGAGTA	0.527000													15	179					0	0	1	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117431743	117431743	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr7:117431743G>A	ENST00000160373.3	-	4	1598	c.1507C>T	c.(1507-1509)Caa>Taa	p.Q503*		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	503	Pro-rich.									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)		GCACCTGCTTGAGGGCTTGTA	0.542000													19	134					0	0	1	0	0
GNB5	10681	broad.mit.edu	37	15	52446250	52446250	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr15:52446250C>G	ENST00000261837.7	-	4	327	c.262G>C	c.(262-264)Gag>Cag	p.E88Q	GNB5_ENST00000358784.7_Missense_Mutation_p.E46Q|GNB5_ENST00000560116.1_Missense_Mutation_p.E46Q|GNB5_ENST00000396335.4_Missense_Mutation_p.E46Q	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	88						heterotrimeric G-protein complex	GTPase activity|signal transducer activity			large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		CCCAGGGCCTCCACCCGCTCC	0.562000													4	31					0	0	1	0	0
ASGR2	433	broad.mit.edu	37	17	7004980	7004980	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr17:7004980C>T	ENST00000380952.2	-	9	1114	c.850G>A	c.(850-852)Gat>Aat	p.D284N	ASGR2_ENST00000254850.7_Missense_Mutation_p.D260N|ASGR2_ENST00000355035.5_Missense_Mutation_p.D284N|ASGR2_ENST00000446679.2_Missense_Mutation_p.D265N	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172.1|NP_001188281.1|NP_550434.1	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2	284	C-type lectin.				cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	CAGCGGCCATCCGGCTGGACT	0.587000													11	64					0	0	1	0	0
C7orf10	79783	broad.mit.edu	37	7	40220549	40220549	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr7:40220549T>A	ENST00000309930.5	+	2	149	c.125T>A	c.(124-126)aTg>aAg	p.M42K	C7orf10_ENST00000540834.1_Missense_Mutation_p.M35K|C7orf10_ENST00000401647.2_Missense_Mutation_p.M42K|C7orf10_ENST00000335693.4_Missense_Mutation_p.M42K	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN	chromosome 7 open reading frame 10	42							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						TTGCCAGATATGAACAATATA	0.323000													23	159					0	0	1	0	0
GTF3C3	9330	broad.mit.edu	37	2	197657782	197657782	+	Silent	SNP	C	C	T			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr2:197657782C>T	ENST00000263956.3	-	3	398	c.309G>A	c.(307-309)gaG>gaA	p.E103E	GTF3C3_ENST00000409364.3_Silent_p.E103E	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	103	Glu-rich.					transcription factor TFIIIC complex	DNA binding|protein binding	p.E103E(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						cctcctcctcctcttcttcct	0.468000													4	55					0	0	1	0	0
ALDH18A1	5832	broad.mit.edu	37	10	97397180	97397180	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr10:97397180T>C	ENST00000371224.2	-	4	454	c.317A>G	c.(316-318)cAg>cGg	p.Q106R	ALDH18A1_ENST00000371221.3_Missense_Mutation_p.Q106R|ALDH18A1_ENST00000483788.1_5'UTR	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	106	Glutamate 5-kinase.				proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	L-Glutamic Acid(DB00142)	GCCCTGATTCTGCAGCACTGA	0.532000													5	48					0	0	1	0	0
NFATC3	4775	broad.mit.edu	37	16	68260325	68260325	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr16:68260325C>T	ENST00000346183.3	+	10	3203	c.3179C>T	c.(3178-3180)cCc>cTc	p.P1060L	NFATC3_ENST00000535127.2_3'UTR|RP11-96D1.10_ENST00000571975.1_RNA|RP11-96D1.11_ENST00000571197.1_RNA|NFATC3_ENST00000349223.5_3'UTR|NFATC3_ENST00000329524.4_3'UTR	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	1060					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		AGGCAGGCTCCCCTCCCGAGT	0.502000													5	78					0	0	1	0	0
STK19	8859	broad.mit.edu	37	6	31940149	31940149	+	Silent	SNP	C	C	G			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr6:31940149C>G	ENST00000375331.2	+	2	457	c.291C>G	c.(289-291)ctC>ctG	p.L97L	STK19_ENST00000375333.2_Silent_p.L97L	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	97						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						TCTCTTCCCTCCATTCCTACC	0.577000													8	77					0	0	1	0	0
NAPEPLD	222236	broad.mit.edu	37	7	102760405	102760405	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr7:102760405T>C	ENST00000417955.1	-	3	714	c.560A>G	c.(559-561)cAc>cGc	p.H187R	NAPEPLD_ENST00000427257.1_Missense_Mutation_p.H187R|NAPEPLD_ENST00000465647.1_Missense_Mutation_p.H187R|NAPEPLD_ENST00000455523.2_Missense_Mutation_p.H260R|NAPEPLD_ENST00000341533.4_Missense_Mutation_p.H187R			Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D	187					phospholipid catabolic process	membrane	metal ion binding			endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						ATGGTCATAGTGGTTGTGACT	0.468000													29	210					0	0	1	0	0
PDE4D	5144	broad.mit.edu	37	5	59284315	59284315	+	Splice_Site	SNP	C	C	T			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr5:59284315C>T	ENST00000502484.2	-	3	495	c.272_splice	c.e3+1	p.G91_splice	PDE4D_ENST00000546160.1_Splice_Site_p.G91_splice	NM_001165899.1	NP_001159371.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	0					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	GGGCACTCACCCACTGGATTC	0.443000													4	31					0	0	1	0	0
DDX3X	1654	broad.mit.edu	37	X	41206647	41206647	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chrX:41206647G>A	ENST00000399959.2	+	16	2707	c.1852G>A	c.(1852-1854)Gca>Aca	p.A618T	DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000457138.2_Missense_Mutation_p.A602T|DDX3X_ENST00000478993.1_3'UTR	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	618	Gly/Ser-rich.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						cagcagccgcgcaagcagcag	0.502000										HNSCC(61;0.18)			8	24					0	0	1	0	0
GTF3C4	9329	broad.mit.edu	37	9	135564267	135564267	+	Splice_Site	SNP	G	G	C			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr9:135564267G>C	ENST00000372146.4	+	5	2968		c.e5-1			NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa						transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		TCCTTTTGCAGATCCCGACTG	0.478000													11	108					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155219118	155219118	+	Silent	SNP	G	G	T			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr4:155219118G>T	ENST00000357232.3	-	18	4982	c.4983C>A	c.(4981-4983)ggC>ggA	p.G1661G		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1661	Cadherin 14.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGGCTGGAATGCCCTGGTCTG	0.428000													5	46					0.00116845	0.00124303	1	1	0
ZNF263	10127	broad.mit.edu	37	16	3340303	3340303	+	Silent	SNP	A	A	G			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr16:3340303A>G	ENST00000219069.5	+	6	2673	c.1797A>G	c.(1795-1797)ggA>ggG	p.G599G	ZNF263_ENST00000538765.1_Silent_p.G247G	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	599					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						CACACACAGGAGAGAAACCGT	0.458000													12	48					0	0	1	0	0
CYP3A43	64816	broad.mit.edu	37	7	99447302	99447302	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr7:99447302T>C	ENST00000354829.2	+	7	758	c.655T>C	c.(655-657)Ttt>Ctt	p.F219L	CYP3A43_ENST00000417625.1_Intron|CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000342499.4_Missense_Mutation_p.L81P|CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000477658.1_Intron|CYP3A43_ENST00000222382.5_Missense_Mutation_p.F219L|CYP3A43_ENST00000312017.5_Missense_Mutation_p.F219L	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	219			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	TTTGGATCCCTTTTTACTCTT	0.299000													3	24					0	0	1	0	0
FANCM	57697	broad.mit.edu	37	14	45646167	45646167	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr14:45646167C>T	ENST00000267430.5	+	14	4295	c.4210C>T	c.(4210-4212)Cat>Tat	p.H1404Y	FANCM_ENST00000542564.2_Missense_Mutation_p.H1378Y	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1404					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TAAATCCTGTCATTCTGTTGA	0.279000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				5	35					0	0	1	0	0
DPY19L3	147991	broad.mit.edu	37	19	32902241	32902241	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr19:32902241C>T	ENST00000342179.5	+	3	415	c.200C>T	c.(199-201)aCg>aTg	p.T67M	DPY19L3_ENST00000586987.1_Missense_Mutation_p.T67M|DPY19L3_ENST00000392250.2_Missense_Mutation_p.T67M|DPY19L3_ENST00000587077.1_Missense_Mutation_p.T67M	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	67						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					TACCTTGCCACGTTACATGAA	0.378000													7	86					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			5	32					0	0	1	0	0
PEAK1	79834	broad.mit.edu	37	15	77425859	77425859	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr15:77425859C>T	ENST00000560626.2	-	6	4040	c.3565G>A	c.(3565-3567)Gat>Aat	p.D1189N	PEAK1_ENST00000312493.4_Missense_Mutation_p.D1189N			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1189					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										GGGTCGATATCATAGGTGGGA	0.458000													10	65					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237551425	237551425	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr1:237551425G>T	ENST00000366574.2	+	10	1032	c.715G>T	c.(715-717)Gga>Tga	p.G239*	RYR2_ENST00000542537.1_Nonsense_Mutation_p.G223*|RYR2_ENST00000360064.6_Nonsense_Mutation_p.G237*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	239	MIR 3.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTTGCTGCATGGACACATGGA	0.488000													9	66					5.16669e-11	6.22492e-11	1	1	0
SPTA1	6708	broad.mit.edu	37	1	158651439	158651439	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr1:158651439G>A	ENST00000368148.3	-	4	589	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	SPTA1_ENST00000368147.3_Missense_Mutation_p.R137C	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	137					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CACAGGTGGCGTAGCTCCTCT	0.547000													4	76					0	0	1	0	0
CHD1	1105	broad.mit.edu	37	5	98192267	98192267	+	Silent	SNP	C	C	A			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr5:98192267C>A	ENST00000284049.3	-	35	5099	c.4950G>T	c.(4948-4950)acG>acT	p.T1650T		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1650					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			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)	ATTTATGGTGCGTATATTCAG	0.438000													6	51					0.00307968	0.003208	1	1	0
PCDHGA10	56106	broad.mit.edu	37	5	140793954	140793954	+	Missense_Mutation	SNP	T	T	G			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr5:140793954T>G	ENST00000398610.2	+	1	1212	c.1212T>G	c.(1210-1212)agT>agG	p.S404R	PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATTGACAGTTATTACAGAT	0.418000													9	49					0	0	1	0	0
APCDD1L	164284	broad.mit.edu	37	20	57042277	57042277	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr20:57042277G>A	ENST00000371149.3	-	3	856	c.626C>T	c.(625-627)cCc>cTc	p.P209L	APCDD1L_ENST00000439429.1_Missense_Mutation_p.P220L	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	209						integral to membrane				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			CGACGCCCGGGGCTGCGGCTG	0.761000													2	4					0	0	1	0	0
TLR6	10333	broad.mit.edu	37	4	38829364	38829364	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr4:38829364C>T	ENST00000436693.2	-	2	1850	c.1731G>A	c.(1729-1731)atG>atA	p.M577I	TLR6_ENST00000381950.1_Missense_Mutation_p.M577I	NM_006068.4	NP_006059.2	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	577	LRRCT.				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATAATTCAGACATGTGAAAGT	0.468000													10	59					0	0	1	0	0
BARHL2	343472	broad.mit.edu	37	1	91178090	91178090	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr1:91178090A>T	ENST00000370445.4	-	3	984	c.943T>A	c.(943-945)Tat>Aat	p.Y315N		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	315						nucleus	sequence-specific DNA binding			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		TGATAGAAATAAGGCGATGGA	0.617000													6	44					0	0	1	0	0
RC3H2	54542	broad.mit.edu	37	9	125621297	125621297	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr9:125621297G>A	ENST00000373670.1	-	11	2534	c.1934C>T	c.(1933-1935)tCc>tTc	p.S645F	RC3H2_ENST00000423239.2_Missense_Mutation_p.S645F|RC3H2_ENST00000357244.2_Missense_Mutation_p.S645F			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	645	Pro-rich.					cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TGGGAGGGAGGACTCTGGAAC	0.512000													9	66					0	0	1	0	0
GPAT2	150763	broad.mit.edu	37	2	96690533	96690533	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr2:96690533G>C	ENST00000434632.1	-	15	1875	c.1416C>G	c.(1414-1416)ttC>ttG	p.F472L	GPAT2_ENST00000453542.1_Missense_Mutation_p.F401L|GPAT2_ENST00000359548.4_Missense_Mutation_p.F472L|GPAT2_ENST00000377137.3_Missense_Mutation_p.F472L			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	472					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						TCTGATGCTTGAAGAGCAGCA	0.657000													50	361					0	0	1	0	0
INPP5J	27124	broad.mit.edu	37	22	31524489	31524489	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr22:31524489G>A	ENST00000331075.5	+	9	2091	c.2042G>A	c.(2041-2043)cGt>cAt	p.R681H	INPP5J_ENST00000404390.3_Missense_Mutation_p.R313H|INPP5J_ENST00000402238.1_Missense_Mutation_p.R46H|INPP5J_ENST00000400294.2_Missense_Mutation_p.R314H|INPP5J_ENST00000401755.1_Missense_Mutation_p.R46H|INPP5J_ENST00000412277.2_Missense_Mutation_p.R614H|INPP5J_ENST00000405300.1_Missense_Mutation_p.R314H|INPP5J_ENST00000404453.1_Missense_Mutation_p.R46H			Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	681	Catalytic (Potential).					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						TGGACAGACCGTATCCTATGG	0.607000													5	19					0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46897021	46897021	+	Missense_Mutation	SNP	C	C	G	rs139692226		TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr11:46897021C>G	ENST00000378623.1	-	27	4153	c.3911G>C	c.(3910-3912)cGg>cCg	p.R1304P		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1304					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TGGCTGTGCCCGGTCCACAGC	0.582000													5	57					0	0	1	0	0
RGS7BP	401190	broad.mit.edu	37	5	63871619	63871619	+	Silent	SNP	C	C	A			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr5:63871619C>A	ENST00000334025.2	+	3	677	c.351C>A	c.(349-351)atC>atA	p.I117I	RGS7BP_ENST00000508162.1_3'UTR	NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN	regulator of G-protein signaling 7 binding protein	117					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		ATGGTGAGATCCATCCAGAAA	0.453000													6	50					0.00198382	0.00208823	1	1	0
AC079305.8	0	broad.mit.edu	37	2	178042511	178042511	+	RNA	DEL	G	G	-			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr2:178042511delG	ENST00000455416.1	-	0	166																											CATCGAGGAAGGGCGCATCCA	0.552													2	4	---	---	---	---					
RRAGD	58528	broad.mit.edu	37	6	90121645	90121647	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr6:90121645_90121647delTCC	ENST00000369415.4	-	1	342_344	c.66_68delGGA	c.(64-69)gat>ga	p.ED22del	RRAGD_ENST00000359203.2_5'UTR	NM_021244.4	NP_067067.1	Q9NQL2	RRAGD_HUMAN	Ras-related GTP binding D	22					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosome|nucleus	GTP binding|protein heterodimerization activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		CACCAGctcatcctcctcctcct	0.754													3	4	---	---	---	---					
WBP1L	54838	broad.mit.edu	37	10	104569669	104569671	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr10:104569669_104569671delCAT	ENST00000369889.4	+	3	292_294	c.150_152delCAT	c.(148-153)acc>ac	p.TI50del	WBP1L_ENST00000448841.1_In_Frame_Del_p.TI71del	NM_017787.4	NP_060257.4	Q9NX94	OPA1L_HUMAN	WW domain binding protein 1-like	50						integral to membrane											TGGTGTGGACCATCATCATCATC	0.606													7	521	---	---	---	---					
GSPT1	2935	broad.mit.edu	37	16	12009531	12009539	+	In_Frame_Del	DEL	CCGCCGCCG	CCGCCGCCG	-			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr16:12009531_12009539delCCGCCGCCG	ENST00000434724.2	-	1	238_246	c.39_47delCGGCGGCGG	c.(37-48)ggg>gg	p.GGGG13del	AC007216.1_ENST00000583357.1_RNA|GSPT1_ENST00000420576.2_Intron|GSPT1_ENST00000439887.2_In_Frame_Del_p.GGGG13del	NM_001130006.1|NM_002094.3	NP_001123478.1|NP_002085.2	P15170	ERF3A_HUMAN	G1 to S phase transition 1	40					G1/S transition of mitotic cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation	intracellular	GTP binding|GTPase activity|protein binding|translation release factor activity			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						gctgctgctcccgccgccgccgccgccgc	0.780													4	2	---	---	---	---					
KCTD1	284252	broad.mit.edu	37	18	24128223	24128225	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr18:24128223_24128225delTCC	ENST00000417602.1	-	1	275_277	c.276_278delGGA	c.(274-279)gaa>ga	p.EE94del	KCTD1_ENST00000317932.7_Intron|KCTD1_ENST00000579973.1_Intron|KCTD1_ENST00000408011.3_Intron	NM_001142730.2	NP_001136202.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	0	BTB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			ctcctcctcttcctcctcctcct	0.655													2	4	---	---	---	---					
KRTAP10-7	386675	broad.mit.edu	37	21	46020656	46020670	+	In_Frame_Del	DEL	CTGCTGCGCCCCCAG	CTGCTGCGCCCCCAG	-	rs36208679		TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chr21:46020656_46020670delCTGCTGCGCCCCCAG	ENST00000380102.2	+	1	160_174	c.135_149delCTGCTGCGCCCCCAG	c.(133-150)ccc>cc	p.PCCAPS45del	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	45	30 X 5 AA repeats of C-C-X(3).					keratin filament		p.S50_P54delSCCAP(1)		breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GCGAGCCCCCCTGCTGCGCCCCCAGCTGCTGCGCC	0.698													8	12	---	---	---	---					
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Translation_Start_Site	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-86-8076-01A-31D-2238-08	TCGA-86-8076-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cb254e7-2e31-4ab4-85bd-78d50ced69ee	45b8d355-f634-4008-ae65-b2246f464ae8	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11							cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)			2	4	---	---	---	---					
