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
PCNXL4	64430	broad.mit.edu	37	14	60574526	60574526	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr14:60574526T>G	ENST00000406854.1	+	2	724	c.170T>G	c.(169-171)gTc>gGc	p.V57G	PCNXL4_ENST00000391611.2_Missense_Mutation_p.V57G|PCNXL4_ENST00000317623.4_Intron|PCNXL4_ENST00000406949.1_Intron|PCNXL4_ENST00000404681.2_Missense_Mutation_p.V57G					pecanex-like 4 (Drosophila)																		TGGGGTGGAGTCGGAACACTT	0.398000													4	46					0	0	1	0	0
LRRC15	131578	broad.mit.edu	37	3	194081183	194081183	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr3:194081183C>T	ENST00000347624.3	-	2	675	c.590G>A	c.(589-591)gGc>gAc	p.G197D	LRRC15_ENST00000428839.1_Missense_Mutation_p.G203D|LRRC15_ENST00000439944.2_Missense_Mutation_p.G203D	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	197						integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		CTGGAGGTTGCCCAGGTGCTG	0.572000													68	112					0	0	1	0	0
SESN1	27244	broad.mit.edu	37	6	109322526	109322526	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr6:109322526A>C	ENST00000436639.2	-	3	1256	c.511T>G	c.(511-513)Tta>Gta	p.L171V	SESN1_ENST00000356644.7_Missense_Mutation_p.L112V|SESN1_ENST00000302071.2_Missense_Mutation_p.L46V	NM_014454.2	NP_055269.1	Q9Y6P5	SESN1_HUMAN	sestrin 1	112					cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		TGTAGGGGTAACGGCCCATCC	0.348000													9	22					0	0	1	0	0
SSH3	54961	broad.mit.edu	37	11	67074410	67074410	+	Silent	SNP	G	G	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr11:67074410G>T	ENST00000308127.4	+	4	619	c.441G>T	c.(439-441)ctG>ctT	p.L147L	SSH3_ENST00000532181.1_3'UTR|SSH3_ENST00000376757.5_Silent_p.L147L|SSH3_ENST00000308298.7_Silent_p.L147L	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	147					regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CGGTCCTCCTGGGCGTGGATT	0.632000													20	67					8.34094e-07	9.6796e-07	1	1	0
NNT	23530	broad.mit.edu	37	5	43645506	43645506	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr5:43645506A>C	ENST00000264663.5	+	10	1559	c.1338A>C	c.(1336-1338)caA>caC	p.Q446H	NNT_ENST00000512996.2_Missense_Mutation_p.Q315H|NNT_ENST00000344920.4_Missense_Mutation_p.Q446H	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	446					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	ATATTCCTCAAGGTGCCCCAG	0.403000													4	51					0	0	1	0	0
AMFR	267	broad.mit.edu	37	16	56398015	56398015	+	Silent	SNP	G	G	A			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr16:56398015G>A	ENST00000290649.5	-	13	1812	c.1602C>T	c.(1600-1602)acC>acT	p.T534T		NM_001144.5	NP_001135.3	Q9UKV5	AMFR2_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	534					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						GCACACGCTCGGTCTGGACAC	0.637000													9	13					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45127107	45127107	+	RNA	SNP	C	C	G	rs147409399	by1000genomes	TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr17:45127107C>G	ENST00000575173.1	-	0	418																											CCTTCGTTCACCCAAGAGCAT	0.592000													4	59					0	0	1	0	0
CCDC94	55702	broad.mit.edu	37	19	4267640	4267640	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr19:4267640A>G	ENST00000262962.7	+	7	796	c.728A>G	c.(727-729)aAg>aGg	p.K243R		NM_018074.4	NP_060544.2	Q9BW85	CCD94_HUMAN	coiled-coil domain containing 94	243										NS(1)|endometrium(1)|lung(2)|ovary(1)|stomach(2)	7				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183)		CCCAAGAGGAAGGTGGAGGTC	0.682000											OREG0025164	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	36					0	0	1	0	0
MYLIP	29116	broad.mit.edu	37	6	16146916	16146916	+	Silent	SNP	T	T	A			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr6:16146916T>A	ENST00000349606.4	+	6	1233	c.729T>A	c.(727-729)cgT>cgA	p.R243R	MYLIP_ENST00000356840.3_Silent_p.R424R			Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	424	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			GCAGGTCGCGTGTGGAGCATG	0.532000													3	8					0	0	1	0	0
INPP4A	3631	broad.mit.edu	37	2	99182212	99182212	+	Silent	SNP	C	C	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr2:99182212C>T	ENST00000074304.5	+	21	2670	c.2277C>T	c.(2275-2277)ccC>ccT	p.P759P	INPP4A_ENST00000545415.1_Silent_p.P720P|INPP4A_ENST00000523221.1_Silent_p.P759P|INPP4A_ENST00000409851.3_Silent_p.P754P|INPP4A_ENST00000409540.3_Silent_p.P720P|INPP4A_ENST00000409016.3_Silent_p.P720P|INPP4A_ENST00000409463.1_Silent_p.P88P	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	759					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						ACATGCTGCCCGTCATCACAG	0.483000													16	47					0	0	1	0	0
OR1K1	0	broad.mit.edu	37	9	125562551	125562551	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr9:125562551C>G	ENST00000277309.2	+	1	182	c.150C>G	c.(148-150)atC>atG	p.I50M		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						TGGCTGCCATCCAGGCCAGTC	0.572000													7	44					0	0	1	0	0
SCAP	22937	broad.mit.edu	37	3	47455419	47455419	+	Silent	SNP	G	G	A	rs112830289	byFrequency	TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr3:47455419G>A	ENST00000265565.5	-	23	4177	c.3765C>T	c.(3763-3765)aaC>aaT	p.N1255N	SCAP_ENST00000441517.2_Silent_p.N999N|SCAP_ENST00000545718.1_Silent_p.N862N	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	1255	Interaction with SREBF2 (By similarity).				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CAATGGCAGCGTTGTCCAGCA	0.592000													7	211					0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13393391	13393391	+	Silent	SNP	C	C	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr3:13393391C>T	ENST00000254508.5	-	20	2905	c.2823G>A	c.(2821-2823)agG>agA	p.R941R		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	941					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TGGCGACACCCCTGGCCTCCT	0.532000													4	56					0	0	1	0	0
KPNA5	3841	broad.mit.edu	37	6	117045527	117045527	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr6:117045527A>G	ENST00000368564.1	+	10	1136	c.988A>G	c.(988-990)Att>Gtt	p.I330V	KPNA5_ENST00000356348.1_Missense_Mutation_p.I330V			O15131	IMA5_HUMAN	karyopherin alpha 5 (importin alpha 6)	327	NLS binding site (minor) (By similarity).				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		TGGTGATGATATTCAAACACA	0.279000													12	8					0	0	1	0	0
KRT7	3855	broad.mit.edu	37	12	52629059	52629059	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr12:52629059C>T	ENST00000331817.5	+	2	628	c.445C>T	c.(445-447)Cgg>Tgg	p.R149W		NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	149	Coil 1B.|Rod.				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)		TGCTGGCCTTCGGGGTCAGCT	0.612000													5	69					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39451252	39451252	+	Splice_Site	SNP	A	A	G			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr13:39451252A>G	ENST00000280481.7	+	21	8760		c.e21-1			NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2						cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CTTTGGTTTTAGGTCAGTGAT	0.433000													6	71					0	0	1	0	0
TMEM205	374882	broad.mit.edu	37	19	11453691	11453691	+	Silent	SNP	G	G	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr19:11453691G>T	ENST00000354882.5	-	3	796	c.370C>A	c.(370-372)Cga>Aga	p.R124R	TMEM205_ENST00000587948.1_Silent_p.R124R|TMEM205_ENST00000447337.1_Silent_p.R124R|TMEM205_ENST00000593256.2_Silent_p.R124R|TMEM205_ENST00000586590.1_Silent_p.R124R|TMEM205_ENST00000586218.1_Silent_p.R63R|TMEM205_ENST00000586956.1_Silent_p.R124R|RAB3D_ENST00000589655.1_Intron|TMEM205_ENST00000589555.1_Silent_p.R124R|TMEM205_ENST00000588560.1_Silent_p.R124R			Q6UW68	TM205_HUMAN	transmembrane protein 205	124						integral to membrane				endometrium(1)|lung(1)	2						CCCAGGCCTCGCTCCTTCTCC	0.647000													22	31					7.41877e-09	8.8274e-09	1	1	0
FRG1B	0	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr20:29625941A>T	ENST00000278882.3	+	5	565	c.185A>T	c.(184-186)gAt>gTt	p.D62V	FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V|FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V														p.D62V(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333000													4	61					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	26026298	26026298	+	Silent	SNP	G	G	A	rs145190957	byFrequency	TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr15:26026298G>A	ENST00000356865.6	-	2	633	c.522C>T	c.(520-522)aaC>aaT	p.N174N		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	174					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GGAAGATTTCGTTGCAGCGAA	0.498000													4	41					0	0	1	0	0
VHL	7428	broad.mit.edu	37	3	10191575	10191575	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr3:10191575G>T	ENST00000256474.2	+	3	1408	c.568G>T	c.(568-570)Gac>Tac	p.D190Y	VHL_ENST00000345392.2_Missense_Mutation_p.D149Y|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	190					anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	p.E189fs*12(2)|p.D190fs*12(1)|p.D187_N193del(1)|p.D190fs*>25(1)|p.Y185fs*11(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		AGATCTGGAAGACCACCCAAA	0.502000		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia				7	17					5.18039e-06	5.9385e-06	1	1	0
CFB	629	broad.mit.edu	37	6	31911054	31911054	+	Silent	SNP	C	C	T	rs138221333	byFrequency	TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr6:31911054C>T	ENST00000456570.1	+	8	1009	c.954C>T	c.(952-954)aaC>aaT	p.N318N	C2_ENST00000469372.1_Silent_p.N225N|C2_ENST00000442278.2_Silent_p.N339N|C2_ENST00000452323.2_Silent_p.N257N|C2_ENST00000299367.5_Silent_p.N471N|CFB_ENST00000556679.1_Silent_p.N318N|CFB_ENST00000477310.1_Silent_p.N242N			P00751	CFAB_HUMAN	complement factor B	486	VWFA.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TGTCAGCAAACGCCTCTGACC	0.577000													23	26					0	0	1	0	0
UBXN10	127733	broad.mit.edu	37	1	20517520	20517520	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr1:20517520A>G	ENST00000375099.3	+	2	550	c.466A>G	c.(466-468)Atg>Gtg	p.M156V		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	156										endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						GACGGGCACCATGAAGACAAG	0.527000													17	21					0	0	1	0	0
MMP26	56547	broad.mit.edu	37	11	5009509	5009509	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr11:5009509C>A	ENST00000380390.1	+	2	284	c.68C>A	c.(67-69)gCt>gAt	p.A23D	MMP26_ENST00000477339.1_3'UTR|MMP26_ENST00000300762.1_Missense_Mutation_p.A23D			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	23					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		GTGCCCCCTGCTGCAGACCAT	0.488000													34	45					5.43694e-19	6.72463e-19	1	1	0
LRIG3	121227	broad.mit.edu	37	12	59281622	59281622	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr12:59281622A>C	ENST00000320743.3	-	8	1326	c.1040T>G	c.(1039-1041)gTc>gGc	p.V347G	LRIG3_ENST00000379141.4_Missense_Mutation_p.V287G	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	347						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			AATGTAGCTGACTCTGTTGTT	0.413000			T	ROS1	NSCLC								18	32					0	0	1	0	0
KPNB1	3837	broad.mit.edu	37	17	45754426	45754426	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr17:45754426G>T	ENST00000290158.4	+	17	2443	c.2036G>T	c.(2035-2037)cGt>cTt	p.R679L	KPNB1_ENST00000540627.1_Missense_Mutation_p.R534L|KPNB1_ENST00000537679.1_Missense_Mutation_p.R463L|KPNB1_ENST00000535458.2_Missense_Mutation_p.R534L	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	679					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						GACTTGTGCCGTGCCCTGCAA	0.468000													4	57					0.150653	0.157349	1	1	0
VANGL2	57216	broad.mit.edu	37	1	160394001	160394001	+	Silent	SNP	G	G	A			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr1:160394001G>A	ENST00000368061.2	+	7	1707	c.1233G>A	c.(1231-1233)caG>caA	p.Q411Q		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	411					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCACCAAGCAGCAGCCCTACC	0.592000													20	39					0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47527619	47527619	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr4:47527619G>T	ENST00000273859.3	+	5	1005	c.736G>T	c.(736-738)Gaa>Taa	p.E246*	ATP10D_ENST00000504445.1_Nonsense_Mutation_p.E246*	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	246					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GATAGAATGTGAAAGCCCAAA	0.363000													5	23					5.9392e-07	6.97856e-07	1	1	0
ARID3B	10620	broad.mit.edu	37	15	74883672	74883672	+	Silent	SNP	T	T	C			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr15:74883672T>C	ENST00000346246.5	+	6	1293	c.1062T>C	c.(1060-1062)ctT>ctC	p.L354L		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	354	Interaction with RB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.L354L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						CCCCTGCCCTTCTCTCCCCAC	0.647000													5	83					0	0	1	0	0
ZNF223	7766	broad.mit.edu	37	19	44564693	44564693	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr19:44564693G>A	ENST00000591793.1	+	5	514	c.431G>A	c.(430-432)cGa>cAa	p.R144Q	ZNF223_ENST00000588518.1_Intron|ZNF223_ENST00000585552.1_Missense_Mutation_p.R34Q|ZNF223_ENST00000434772.3_Missense_Mutation_p.R34Q			Q9UK11	ZN223_HUMAN	zinc finger protein 223	34					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				AAGCTGTATCGAGATGTGATG	0.532000													45	109					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216462740	216462740	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr1:216462740T>A	ENST00000366943.2	-	11	2239	c.1853A>T	c.(1852-1854)gAg>gTg	p.E618V	USH2A_ENST00000307340.3_Missense_Mutation_p.E618V|USH2A_ENST00000366942.3_Missense_Mutation_p.E618V			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	618	Laminin EGF-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTTGCACAGCTCACAGTTCCT	0.403000										HNSCC(13;0.011)			6	45					0	0	1	0	0
LEKR1	389170	broad.mit.edu	37	3	156746095	156746095	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr3:156746095C>G	ENST00000470811.1	+	13	1995	c.660C>G	c.(658-660)aaC>aaG	p.N220K	LEKR1_ENST00000356539.4_Missense_Mutation_p.N524K			D3DNK7	D3DNK7_HUMAN	leucine, glutamate and lysine rich 1	105										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TTTCAGAAAACTTGAGGAAGG	0.358000													11	13					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61525242	61525242	+	Silent	SNP	G	G	A			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr20:61525242G>A	ENST00000266070.4	-	12	3202	c.2877C>T	c.(2875-2877)acC>acT	p.T959T	DIDO1_ENST00000395340.1_Silent_p.T959T|DIDO1_ENST00000395335.2_Silent_p.T959T|DIDO1_ENST00000395343.1_Silent_p.T959T	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	959					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTGTGACGGTGGTGACCACCC	0.682000													21	31					0	0	1	0	0
KEAP1	9817	broad.mit.edu	37	19	10602517	10602517	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr19:10602517C>A	ENST00000171111.5	-	3	1608	c.1061G>T	c.(1060-1062)cGg>cTg	p.R354L	KEAP1_ENST00000393623.2_Missense_Mutation_p.R354L	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GTCCGCCAACCGGAGCCAGGT	0.706000													3	9					0.115264	0.12174	1	1	0
TRAIP	10293	broad.mit.edu	37	3	49881269	49881269	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr3:49881269A>T	ENST00000331456.2	-	5	486	c.373T>A	c.(373-375)Ttg>Atg	p.L125M	TRAIP_ENST00000469027.1_Intron	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	125					cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCCTTGCCCAAGGCCTGCTGC	0.537000													30	64					0	0	1	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3142301	3142301	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr16:3142301G>A	ENST00000252463.2	-	2	335	c.248C>T	c.(247-249)gCt>gTt	p.A83V	ZSCAN10_ENST00000572548.1_Intron|ZSCAN10_ENST00000575108.1_5'UTR|ZSCAN10_ENST00000538082.2_Intron	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	83					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						ACTCTTGCCAGCATTACAACT	0.547000													15	48					0	0	1	0	0
SF3A1	10291	broad.mit.edu	37	22	30737773	30737773	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr22:30737773C>A	ENST00000439242.1	-	7	915	c.784G>T	c.(784-786)Gtc>Ttc	p.V262F	SF3A1_ENST00000215793.7_Missense_Mutation_p.V327F	NM_001005409.1	NP_001005409.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	327	Poly-Glu.				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						TCAGACTCGACCTCCATCTCA	0.562000													5	84					0.184627	0.190714	1	1	0
CKMT2	1160	broad.mit.edu	37	5	80554973	80554973	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr5:80554973T>C	ENST00000424301.2	+	9	1152	c.914T>C	c.(913-915)tTc>tCc	p.F305S	CTC-281B15.1_ENST00000511495.1_RNA|CTC-281B15.1_ENST00000501927.2_RNA|CKMT2_ENST00000254035.4_Missense_Mutation_p.F305S|CTC-281B15.1_ENST00000505295.1_RNA|CTC-281B15.1_ENST00000500148.2_RNA|CTC-281B15.1_ENST00000503483.2_RNA|CKMT2_ENST00000437669.1_Missense_Mutation_p.F305S|CTC-281B15.1_ENST00000502041.2_RNA|CTC-281B15.1_ENST00000512287.1_RNA	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	305	Phosphagen kinase C-terminal.				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	GGCTGGGAGTTCATGTGGAAT	0.473000													48	59					0	0	1	0	0
FAM86HP	0	broad.mit.edu	37	3	129821650	129821650	+	RNA	SNP	G	G	A	rs56088005	by1000genomes	TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr3:129821650G>A	ENST00000500074.2	-	0	495																											GGTTGCGGACGGTAAAGGCCA	0.667000													5	77					0	0	1	0	0
CLVS1	157807	broad.mit.edu	37	8	62212502	62212502	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr8:62212502G>A	ENST00000519846.1	+	3	588	c.116G>A	c.(115-117)cGc>cAc	p.R39H	CLVS1_ENST00000325897.4_Missense_Mutation_p.R39H|CLVS1_ENST00000518592.1_Intron			Q8IUQ0	CLVS1_HUMAN	clavesin 1	39					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GAGAAAGCTCGCCTGGAACTG	0.433000													12	31					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179399093	179399093	+	Silent	SNP	T	T	C			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr2:179399093T>C	ENST00000589042.1	-	358	102473	c.102249A>G	c.(102247-102249)aaA>aaG	p.K34083K	TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Silent_p.K25018K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Silent_p.K25143K|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.K32442K|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000342175.6_Silent_p.K25210K|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000342992.6_Silent_p.K31515K|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000591867.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32442	Ig-like 151.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTGATAACTTTAGTACTGA	0.473000													21	18					0	0	1	0	0
KRT79	338785	broad.mit.edu	37	12	53216897	53216897	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr12:53216897G>A	ENST00000330553.5	-	7	1304	c.1270C>T	c.(1270-1272)Cgg>Tgg	p.R424W		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	424	Coil 2.|Rod.					keratin filament	structural molecule activity	p.R424W(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CGCAGCAGCCGTGTCAGGTCC	0.612000													16	81					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48691160	48691160	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr8:48691160C>T	ENST00000314191.2	-	84	11766	c.11710G>A	c.(11710-11712)Gcc>Acc	p.A3904T	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.A3873T	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3905	PI3K/PI4K.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TGAGAGCTGGCGAAGTGGGAG	0.572000								Non-homologous end-joining					7	11					0	0	1	0	0
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr17:39183145A>G	ENST00000361883.5	-	1	309	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament		p.I88T(11)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632000													3	29					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189859302	189859302	+	Silent	SNP	C	C	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr2:189859302C>T	ENST00000304636.3	+	19	1499	c.1329C>T	c.(1327-1329)ccC>ccT	p.P443P	COL3A1_ENST00000317840.5_Silent_p.P443P	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	443	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	AAGGAGAGCCCGGACCACGTG	0.398000													10	42					0	0	1	0	0
GPR110	266977	broad.mit.edu	37	6	46977705	46977705	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr6:46977705T>A	ENST00000371253.2	-	11	1681	c.1466A>T	c.(1465-1467)aAc>aTc	p.N489I	GPR110_ENST00000283297.5_Missense_Mutation_p.N292I|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	489					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						GGGTAGAATGTTCCCCAGAGT	0.413000													12	17					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130284217	130284217	+	Silent	SNP	C	C	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr3:130284217C>T	ENST00000358511.6	+	3	1072	c.1041C>T	c.(1039-1041)aaC>aaT	p.N347N	COL6A6_ENST00000453409.2_Silent_p.N347N	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	347	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CAGAAGACAACGTGACAAAAG	0.557000													14	165					0	0	1	0	0
IFT122	55764	broad.mit.edu	37	3	129168739	129168739	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr3:129168739G>T	ENST00000296266.3	+	2	259	c.67G>T	c.(67-69)Gat>Tat	p.D23Y	IFT122_ENST00000504021.1_Missense_Mutation_p.D23Y|IFT122_ENST00000440957.2_5'UTR|IFT122_ENST00000431818.2_5'UTR|IFT122_ENST00000507564.1_Missense_Mutation_p.D23Y|IFT122_ENST00000349441.2_Missense_Mutation_p.D23Y|IFT122_ENST00000348417.2_Missense_Mutation_p.D23Y|IFT122_ENST00000347300.2_Missense_Mutation_p.D23Y	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	23					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						ATTTAAGCCTGATGGAACTCA	0.408000													5	75					0.00116845	0.00126246	1	1	0
TCHH	7062	broad.mit.edu	37	1	152082220	152082220	+	Missense_Mutation	SNP	G	G	C	rs113946258		TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr1:152082220G>C	ENST00000368804.1	-	2	3472	c.3473C>G	c.(3472-3474)cCg>cGg	p.P1158R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1158	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTCTTCTCCGGTTCCTCTCT	0.592000													3	32					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617577	77617577	+	Silent	SNP	C	C	A			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr8:77617577C>A	ENST00000521891.2	+	2	1702	c.1254C>A	c.(1252-1254)acC>acA	p.T418T	ZFHX4_ENST00000518282.1_Silent_p.T418T|ZFHX4_ENST00000050961.6_Silent_p.T418T|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Silent_p.T418T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	418						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TAGTGAACACCCCAATTACCT	0.522000										HNSCC(33;0.089)			9	20					0.361761	0.365651	1	1	0
SPTBN2	6712	broad.mit.edu	37	11	66466498	66466498	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr11:66466498G>A	ENST00000533211.1	-	19	4163	c.3832C>T	c.(3832-3834)Cgg>Tgg	p.R1278W	SPTBN2_ENST00000529997.1_Missense_Mutation_p.R1278W|SPTBN2_ENST00000309996.2_Missense_Mutation_p.R1278W			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1278					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TGCTGCTCCCGGTTGTCCCGA	0.537000													25	31					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	132051761	132051761	+	Silent	SNP	G	G	A			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr8:132051761G>A	ENST00000286355.5	-	1	2911	c.819C>T	c.(817-819)taC>taT	p.Y273Y	ADCY8_ENST00000377928.3_Silent_p.Y273Y	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	273					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TGAAGAGCACGTAGCCTATGC	0.672000										HNSCC(32;0.087)			13	45					0	0	1	0	0
CHRNA6	8973	broad.mit.edu	37	8	42611140	42611140	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr8:42611140G>T	ENST00000276410.2	-	5	1557	c.1202C>A	c.(1201-1203)tCa>tAa	p.S401*	CHRNA6_ENST00000534622.1_Nonsense_Mutation_p.S386*	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	401						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			AAGCTCATTTGATTTGTGACA	0.488000													21	26					3.5997e-14	4.39444e-14	1	1	0
KRT33A	3883	broad.mit.edu	37	17	39506782	39506782	+	Missense_Mutation	SNP	C	C	G	rs148752041	byFrequency	TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr17:39506782C>G	ENST00000007735.3	-	1	282	c.238G>C	c.(238-240)Gac>Cac	p.D80H		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	80	Coil 1A.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				TCCGCGTTGTCCCGCTCCAGC	0.597000													4	68					0	0	1	0	0
CLEC12B	387837	broad.mit.edu	37	12	10165411	10165411	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr12:10165411G>A	ENST00000396502.1	+	2	247	c.119G>A	c.(118-120)cGt>cAt	p.R40H	CLEC12B_ENST00000338896.5_Missense_Mutation_p.R40H|CLEC1B_ENST00000428126.2_Intron	NM_205852.2	NP_995324.2	Q2HXU8	CL12B_HUMAN	C-type lectin domain family 12, member B	40						integral to membrane|plasma membrane	receptor activity|sugar binding			central_nervous_system(2)|large_intestine(2)|lung(5)	9						CCCATTTGGCGTCATGCTGCT	0.458000													14	32					0	0	1	0	0
OR4C13	283092	broad.mit.edu	37	11	49974168	49974168	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr11:49974168C>T	ENST00000555099.1	+	1	226	c.194C>T	c.(193-195)tCc>tTc	p.S65F		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						GCCTATCTCTCCTTTATTGAT	0.428000													15	126					0	0	1	0	0
IRS1	3667	broad.mit.edu	37	2	227662463	227662463	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr2:227662463T>A	ENST00000305123.4	-	1	2012	c.992A>T	c.(991-993)gAc>gTc	p.D331V		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	331	Ser-rich.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GCCTTCGCCGTCACTGGAGGC	0.716000											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	162					0	0	1	0	0
MSL2	55167	broad.mit.edu	37	3	135913890	135913890	+	Silent	SNP	G	G	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr3:135913890G>T	ENST00000309993.2	-	1	798	c.66C>A	c.(64-66)ccC>ccA	p.P22P		NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	22					histone H4-K16 acetylation	MSL complex	zinc ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						TGGGGTCTCCGGGGTCGTAGT	0.527000													70	131					2.10328e-26	2.63612e-26	1	1	0
MGAT5B	146664	broad.mit.edu	37	17	74922812	74922812	+	Splice_Site	SNP	C	C	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr17:74922812C>T	ENST00000569840.2	+	10	1865	c.1291_splice	c.e10+1	p.P431_splice	MGAT5B_ENST00000301618.4_Splice_Site_p.P431_splice|MGAT5B_ENST00000428789.2_Splice_Site_p.P442_splice	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	431						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GACCATGTTTCGTGAGTGCCC	0.622000													56	41					0	0	1	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803493	142803493	+	RNA	SNP	T	T	C	rs80149641	by1000genomes	TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr1:142803493T>C	ENST00000423385.1	-	0	1472																											TGTACATTTATTATTGATTTA	0.323000													3	36					0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160050845	160050845	+	Silent	SNP	C	C	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr2:160050845C>T	ENST00000263635.6	+	17	3057	c.2820C>T	c.(2818-2820)tgC>tgT	p.C940C	TANC1_ENST00000454300.1_Silent_p.C834C	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	940						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CAATCCTGTGCGTCCAGTCTC	0.552000													12	27					0	0	1	0	0
CDK12	51755	broad.mit.edu	37	17	37657655	37657655	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr17:37657655C>T	ENST00000447079.4	+	6	2605	c.2572C>T	c.(2572-2574)Cgg>Tgg	p.R858W	CDK12_ENST00000430627.2_Missense_Mutation_p.R858W	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	858	Protein kinase.				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TTTCCTGCATCGGGATATTAA	0.363000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			19	17					0	0	1	0	0
CNTN2	6900	broad.mit.edu	37	1	205027445	205027445	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr1:205027445G>T	ENST00000331830.4	+	4	636	c.352G>T	c.(352-354)Ggc>Tgc	p.G118C		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	118	Ig-like C2-type 1.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CAACCCAGTGGGCACCGTTGT	0.642000													3	39					6.4e-05	7.24819e-05	1	1	0
SPANXN1	494118	broad.mit.edu	37	X	144337212	144337212	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chrX:144337212G>T	ENST00000370493.3	+	2	856	c.97G>T	c.(97-99)Gac>Tac	p.D33Y		NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1	33										endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					ACCAAACAGGGACTTAGCCCC	0.413000													5	26					0.014758	0.0157642	1	1	0
B4GALT6	9331	broad.mit.edu	37	18	29218612	29218612	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr18:29218612C>A	ENST00000306851.5	-	5	879	c.583G>T	c.(583-585)Gaa>Taa	p.E195*	B4GALT6_ENST00000383131.3_Intron|B4GALT6_ENST00000237019.7_Nonsense_Mutation_p.E156*	NM_004775.3	NP_004766.2	Q9UBX8	B4GT6_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6	195					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			CTCACCTGTTCAATGACATAA	0.348000													18	43					2.4624e-09	2.9675e-09	1	1	0
ADAMTS4	9507	broad.mit.edu	37	1	161166338	161166338	+	Silent	SNP	G	G	C	rs143383079	by1000genomes	TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr1:161166338G>C	ENST00000367995.3	-	2	1391	c.966C>G	c.(964-966)ccC>ccG	p.P322P	ADAMTS4_ENST00000367996.4_Intron			O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	0	Peptidase M12B.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GTGCTGACTGGGGCCTCACCT	0.557000													4	62					0	0	1	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65208858	65208858	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr14:65208858C>T	ENST00000247226.7	+	14	2763	c.2455C>T	c.(2455-2457)Cgc>Tgc	p.R819C	PLEKHG3_ENST00000394691.1_Missense_Mutation_p.R875C|PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000484731.2_Missense_Mutation_p.R380C|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.R408C	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	875					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CACTGAGGGGCGCAGCCCGGC	0.667000													12	16					0	0	1	0	0
OR52M1	119772	broad.mit.edu	37	11	4566999	4566999	+	Silent	SNP	C	C	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr11:4566999C>T	ENST00000360213.1	+	1	579	c.579C>T	c.(577-579)ggC>ggT	p.G193G		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGACATGTGGCGACAGCAGGG	0.512000													40	63					0	0	1	0	0
OR52A5	390054	broad.mit.edu	37	11	5153061	5153061	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr11:5153061A>G	ENST00000307388.1	-	1	811	c.812T>C	c.(811-813)aTa>aCa	p.I271T		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		ATATGGTGGTATGTGTGAACC	0.408000													10	36					0	0	1	0	0
TMEM92	162461	broad.mit.edu	37	17	48356274	48356274	+	Missense_Mutation	SNP	C	C	T	rs143844371		TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr17:48356274C>T	ENST00000300433.3	+	5	393	c.283C>T	c.(283-285)Cgg>Tgg	p.R95W	TMEM92_ENST00000507382.1_Missense_Mutation_p.R95W|TMEM92_ENST00000511882.1_3'UTR	NM_001168215.1	NP_001161687.1	Q6UXU6	TMM92_HUMAN	transmembrane protein 92	95	Pro-rich.					integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	7						AGTGGATTGCCGGGGGCCCCT	0.617000													18	27					0	0	1	0	0
SLC39A14	23516	broad.mit.edu	37	8	22275306	22275306	+	Silent	SNP	G	G	A	rs113562598		TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr8:22275306G>A	ENST00000381237.1	+	8	1409	c.1290G>A	c.(1288-1290)gcG>gcA	p.A430A	SLC39A14_ENST00000240095.6_Silent_p.A430A|SLC39A14_ENST00000359741.5_Silent_p.A430A|SLC39A14_ENST00000289952.5_Silent_p.A430A	NM_001128431.2	NP_001121903.1	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14	430						endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity			NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		GGATTTTTGCGCTAGCTGGAG	0.512000													3	36					0	0	1	0	0
ZNF668	79759	broad.mit.edu	37	16	31072622	31072622	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr16:31072622G>T	ENST00000538906.1	-	3	2411	c.1627C>A	c.(1627-1629)Ccc>Acc	p.P543T	ZNF668_ENST00000535577.1_Missense_Mutation_p.P543T|ZNF668_ENST00000539836.3_Missense_Mutation_p.P566T|ZNF668_ENST00000300849.4_Missense_Mutation_p.P543T|ZNF668_ENST00000426488.2_Missense_Mutation_p.P566T|ZNF668_ENST00000394983.2_Missense_Mutation_p.P543T	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN	zinc finger protein 668	543					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CAGGGGAAGGGCCGGAGCTCC	0.657000													44	39					6.07928e-31	7.72232e-31	1	1	0
VANGL2	57216	broad.mit.edu	37	1	160389317	160389317	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr1:160389317C>T	ENST00000368061.2	+	4	1192	c.718C>T	c.(718-720)Cgc>Tgc	p.R240C	VANGL2_ENST00000483408.1_3'UTR	NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	240					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCTGGAGCTGCGCCAGCTCCA	0.657000													20	26					0	0	1	0	0
TMEM107	84314	broad.mit.edu	37	17	8079029	8079029	+	Nonsense_Mutation	SNP	G	G	C	rs8064449	by1000genomes	TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr17:8079029G>C	ENST00000532998.1	-	3	388	c.302C>G	c.(301-303)tCa>tGa	p.S101*	TMEM107_ENST00000316425.5_Intron|TMEM107_ENST00000533070.1_Intron|TMEM107_ENST00000449985.2_Intron|TMEM107_ENST00000431792.2_Intron|TMEM107_ENST00000437139.2_Intron			Q6UX40	TM107_HUMAN	transmembrane protein 107	0						integral to membrane				large_intestine(1)|lung(4)|ovary(1)	6						AGGGAGTCCTGATAGAAGTGG	0.512000													3	36					0	0	1	0	0
CCDC94	55702	broad.mit.edu	37	19	4267641	4267641	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr19:4267641G>T	ENST00000262962.7	+	7	797	c.729G>T	c.(727-729)aaG>aaT	p.K243N		NM_018074.4	NP_060544.2	Q9BW85	CCD94_HUMAN	coiled-coil domain containing 94	243										NS(1)|endometrium(1)|lung(2)|ovary(1)|stomach(2)	7				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183)		CCAAGAGGAAGGTGGAGGTCT	0.682000											OREG0025164	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	36					0.000602214	0.000658234	1	1	0
EPB41L2	2037	broad.mit.edu	37	6	131184804	131184804	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr6:131184804C>T	ENST00000337057.3	-	18	3065	c.2884G>A	c.(2884-2886)Gga>Aga	p.G962R	EPB41L2_ENST00000368128.2_Missense_Mutation_p.G962R|EPB41L2_ENST00000528282.1_Missense_Mutation_p.G704R|EPB41L2_ENST00000524581.1_Missense_Mutation_p.G340R|EPB41L2_ENST00000445890.2_Missense_Mutation_p.G704R|EPB41L2_ENST00000525193.1_Missense_Mutation_p.G663R|EPB41L2_ENST00000527411.1_Missense_Mutation_p.G892R|EPB41L2_ENST00000527659.1_Missense_Mutation_p.G768R|EPB41L2_ENST00000525271.1_Missense_Mutation_p.G630R|EPB41L2_ENST00000392427.3_Missense_Mutation_p.G630R|EPB41L2_ENST00000530481.1_Missense_Mutation_p.G809R|EPB41L2_ENST00000529208.1_Missense_Mutation_p.G892R|EPB41L2_ENST00000531410.1_Missense_Mutation_p.G83R|EPB41L2_ENST00000530757.1_Missense_Mutation_p.G158R	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	962	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TCTCCATCTCCTGTGATCACA	0.363000													7	23					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39451253	39451253	+	Splice_Site	SNP	G	G	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr13:39451253G>T	ENST00000280481.7	+	21	8760		c.e21-1			NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2						cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TTTGGTTTTAGGTCAGTGATC	0.438000													6	71					0.217242	0.221965	1	1	0
AP5S1	55317	broad.mit.edu	37	20	3802913	3802913	+	Missense_Mutation	SNP	G	G	A	rs151265745	byFrequency	TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr20:3802913G>A	ENST00000379573.2	+	2	393	c.149G>A	c.(148-150)cGg>cAg	p.R50Q	AP5S1_ENST00000246041.2_Missense_Mutation_p.R50Q|AP5S1_ENST00000379567.2_Missense_Mutation_p.R50Q	NM_001204446.1|NM_018347.2	NP_001191375.1|NP_060817.1	Q9NUS5	CT029_HUMAN	adaptor-related protein complex 5, sigma 1 subunit	50					double-strand break repair via homologous recombination		protein binding										AGGCTTCTCCGGAAGGAACAG	0.572000													29	19					0	0	1	0	0
NUDT12	83594	broad.mit.edu	37	5	102888022	102888022	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr5:102888022delT	ENST00000230792.2	-	6	1270	c.1174delA	c.(1174-1176)tgfs	p.M392fs	NUDT12_ENST00000507423.1_Frame_Shift_Del_p.M374fs	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	392	Nudix hydrolase.					nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		GAGGAAGGCATTGGCCATGGT	0.423													12	22	---	---	---	---					
RP11-551L14.1	0	broad.mit.edu	37	12	31270080	31270081	+	RNA	INS	-	-	AAA	rs112314315		TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr12:31270080_31270081insAAA	ENST00000542490.1	-	0	52																				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41						CGTTAAACTGGATCTCACTGGA	0.505													3	5	---	---	---	---					
CDK12	51755	broad.mit.edu	37	17	37619348	37619349	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr17:37619348_37619349insT	ENST00000447079.4	+	1	1057_1058	c.1024_1025insT	c.(1024-1026)gagfs	p.E342fs	CDK12_ENST00000430627.2_Frame_Shift_Ins_p.E342fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	342					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CAAGCGGTCTCTGAGTCGGAGT	0.554			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			14	60	---	---	---	---					
