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
USP38	84640	broad.mit.edu	37	4	144134960	144134960	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr4:144134960G>T	ENST00000307017.4	+	9	2337	c.1831G>T	c.(1831-1833)Gaa>Taa	p.E611*	USP38_ENST00000510377.1_Nonsense_Mutation_p.E611*	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	611					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					ACAAAAAGTGGAAGCCTTTAC	0.413000													28	69					1.5548e-18	1.63725e-18	1	1	0
SORT1	6272	broad.mit.edu	37	1	109897138	109897138	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr1:109897138C>G	ENST00000256637.6	-	5	617	c.559G>C	c.(559-561)Gag>Cag	p.E187Q	SORT1_ENST00000482236.1_5'UTR|SORT1_ENST00000538502.1_Missense_Mutation_p.E51Q	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	187					endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		CCAGACACCTCTGCTGTTAAC	0.418000													42	117					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152520352	152520352	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr2:152520352C>T	ENST00000427231.2	-	45	5675	c.5473G>A	c.(5473-5475)Gaa>Aaa	p.E1825K	NEB_ENST00000172853.10_Missense_Mutation_p.E1825K|NEB_ENST00000604864.1_Missense_Mutation_p.E1825K|NEB_ENST00000603639.1_Missense_Mutation_p.E1825K|NEB_ENST00000409198.1_Missense_Mutation_p.E1825K|NEB_ENST00000397345.3_Missense_Mutation_p.E1825K	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	1825					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTGGCTTGTTCATAGGCTTTC	0.448000													4	41					0	0	1	0	0
NOM1	64434	broad.mit.edu	37	7	156743089	156743089	+	Silent	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr7:156743089C>T	ENST00000275820.3	+	1	673	c.658C>T	c.(658-660)Ctg>Ttg	p.L220L		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	220	Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.				RNA metabolic process	nucleolus	protein binding			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TGACTATATTCTGGGAGCCCT	0.562000													23	103					0	0	1	0	0
OR2T3	343173	broad.mit.edu	37	1	248637253	248637253	+	Missense_Mutation	SNP	A	A	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr1:248637253A>T	ENST00000359594.2	+	1	627	c.602A>T	c.(601-603)aAg>aTg	p.K201M		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCCCTCTATAAGACGCTCATG	0.512000													6	228					0	0	1	0	0
FAM135A	57579	broad.mit.edu	37	6	71185219	71185219	+	Silent	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr6:71185219C>T	ENST00000418814.2	+	6	878	c.264C>T	c.(262-264)atC>atT	p.I88I	FAM135A_ENST00000361499.3_Silent_p.I88I|FAM135A_ENST00000457062.2_Silent_p.I45I|FAM135A_ENST00000505769.1_Silent_p.I88I|FAM135A_ENST00000505868.1_Silent_p.I88I|FAM135A_ENST00000370479.3_Silent_p.I45I	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	88										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						ATGTTATGATCTTCAAAGTAA	0.274000													5	22					0	0	1	0	0
OR1A1	8383	broad.mit.edu	37	17	3119569	3119569	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr17:3119569C>G	ENST00000304094.1	+	1	655	c.655C>G	c.(655-657)Cga>Gga	p.R219G		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						CTCCTATATTCGAGTCTTCTC	0.473000													27	143					0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	94068112	94068112	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr6:94068112A>G	ENST00000369303.4	-	4	1034	c.850T>C	c.(850-852)Tac>Cac	p.Y284H		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	284	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GAAGACTTGTAGAACCCACGG	0.393000													9	36					0	0	1	0	0
CD300C	10871	broad.mit.edu	37	17	72539069	72539069	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr17:72539069G>A	ENST00000330793.1	-	3	818	c.458C>T	c.(457-459)aCg>aTg	p.T153M		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	153	Pro-rich.				cellular defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						GGGCAGCTTCGTGGGAGGACC	0.642000													5	46					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140777294	140777294	+	Silent	SNP	G	G	C			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr9:140777294G>C	ENST00000371372.1	+	3	634	c.489G>C	c.(487-489)cgG>cgC	p.R163R	CACNA1B_ENST00000371355.4_Silent_p.R163R|CACNA1B_ENST00000371357.1_Silent_p.R163R|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Silent_p.R163R|RP11-188C12.3_ENST00000371390.1_RNA|CACNA1B_ENST00000371363.1_Silent_p.R163R	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	163					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CTTACCTGCGGAACGGCTGGA	0.587000													20	182					0	0	1	0	0
PAQR8	85315	broad.mit.edu	37	6	52268628	52268628	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr6:52268628C>T	ENST00000442253.2	+	2	791	c.617C>T	c.(616-618)cCa>cTa	p.P206L	PAQR8_ENST00000360726.3_Missense_Mutation_p.P206L	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	206					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					AGGCCTTATCCAGTCATGAGG	0.547000													13	65					0	0	1	0	0
WNT8A	7478	broad.mit.edu	37	5	137426630	137426630	+	Silent	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr5:137426630C>T	ENST00000506684.1	+	5	1214	c.978C>T	c.(976-978)gtC>gtT	p.V326V	WNT8A_ENST00000398754.1_Silent_p.V308V			Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family, member 8A	308					brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AAACTGAGGTCATAAGCAGCT	0.557000													16	31					0	0	1	0	0
SLC35C2	51006	broad.mit.edu	37	20	44984468	44984468	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr20:44984468G>C	ENST00000372227.1	-	5	921	c.381C>G	c.(379-381)ttC>ttG	p.F127L	SLC35C2_ENST00000243896.2_Missense_Mutation_p.F127L|SLC35C2_ENST00000372229.1_Intron|SLC35C2_ENST00000543605.1_Missense_Mutation_p.F156L|SLC35C2_ENST00000372230.5_Missense_Mutation_p.F127L|SLC35C2_ENST00000317734.8_Missense_Mutation_p.F127L	NM_001281458.1|NM_001281460.1	NP_001268387.1|NP_001268389.1	Q9NQQ7	S35C2_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C2	127					transport	integral to membrane				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16		Myeloproliferative disorder(115;0.0122)				AGATCAGAGAGAAGATCAAGA	0.517000													31	69					0	0	1	0	0
OSTCP1	202459	broad.mit.edu	37	6	159262996	159262996	+	RNA	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr6:159262996C>T	ENST00000522287.1	-	0	347					NR_028496.1																						CTACTGGCCTCTGATGCCCGT	0.418000													23	83					0	0	1	0	0
ZNF284	342909	broad.mit.edu	37	19	44590110	44590110	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr19:44590110C>G	ENST00000421176.3	+	5	695	c.479C>G	c.(478-480)tCc>tGc	p.S160C	ZNF223_ENST00000591793.1_3'UTR	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	160					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				AGTGATGTCTCCATCCTTGAT	0.413000													4	29					0	0	1	0	0
XPO6	23214	broad.mit.edu	37	16	28157512	28157512	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr16:28157512C>G	ENST00000304658.5	-	9	1737	c.1237G>C	c.(1237-1239)Ggt>Cgt	p.G413R	XPO6_ENST00000565698.1_Missense_Mutation_p.G399R	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	413					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						GAGAAGTAACCTTCATGAGTA	0.368000													7	85					0	0	1	0	0
GOLGA8M	653720	broad.mit.edu	37	15	23261104	23261104	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr15:23261104C>T	ENST00000450802.3	+	10	877	c.779C>T	c.(778-780)tCg>tTg	p.S260L		NM_001282468.1|NM_001282472.1|NM_001282484.1|NM_001282490.1|NM_001282493.1|NM_001282494.1	NP_001269397.1|NP_001269401.1|NP_001269413.1|NP_001269419.1|NP_001269422.1|NP_001269423.1																					AGAAAAATGTCGCAGGAGGTG	0.468000													25	69					0	0	1	0	0
CKB	1152	broad.mit.edu	37	14	103986245	103986245	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr14:103986245C>T	ENST00000348956.2	-	8	1459	c.1102G>A	c.(1102-1104)Gag>Aag	p.E368K		NM_001823.4	NP_001814.2	P12277	KCRB_HUMAN	creatine kinase, brain	368					creatine metabolic process	cytosol	ATP binding|creatine kinase activity			lung(2)|prostate(1)	3		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)	TGGCCCTGCTCCAGCCGCTGC	0.632000													5	24					0	0	1	0	0
JUP	3728	broad.mit.edu	37	17	39919236	39919236	+	Splice_Site	SNP	T	T	C			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr17:39919236T>C	ENST00000393931.3	-	8	1614	c.1496A>G	c.(1495-1497)aAg>aGg	p.K499R	JUP_ENST00000540235.1_Intron|JUP_ENST00000393930.1_Splice_Site_p.K499R|JUP_ENST00000310706.5_Splice_Site_p.K499R	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	499					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CAGCAGTACCTTGACCAGTGG	0.562000													12	48					0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	131984404	131984404	+	Silent	SNP	C	C	G			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr2:131984404C>G	ENST00000356920.5	+	4	913	c.819C>G	c.(817-819)ctC>ctG	p.L273L	POTEE_ENST00000358087.5_Silent_p.L283L|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	273							ATP binding										AGCATGGCCTCACACCACTGT	0.333000													11	97					0	0	1	0	0
CD99	4267	broad.mit.edu	37	X	2658837	2658837	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chrX:2658837G>C	ENST00000381192.3	+	10	732	c.550G>C	c.(550-552)Gag>Cag	p.E184Q	CD99_ENST00000381187.3_Missense_Mutation_p.E168Q	NM_001277710.1|NM_002414.3	NP_001264639.1|NP_002405.1	P14209	CD99_HUMAN	CD99 molecule	184					cell adhesion	cytoplasm|integral to plasma membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11						TACTCTTTTAGAGAAATAGAA	0.527000													18	82					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90359844	90359844	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr6:90359844C>G	ENST00000369393.3	-	97	16220	c.16105G>C	c.(16105-16107)Gac>Cac	p.D5369H	MDN1_ENST00000428876.1_Missense_Mutation_p.D5369H			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	5369					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CAAATCTTGTCTTTCCGAAAT	0.403000													4	47					0	0	1	0	0
KLF5	688	broad.mit.edu	37	13	73649892	73649892	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr13:73649892C>G	ENST00000377687.4	+	4	1778	c.1242C>G	c.(1240-1242)ttC>ttG	p.F414L	KLF5_ENST00000539231.1_Missense_Mutation_p.F323L	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	414					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		ACTGGAGGTTCGCGCGATCGG	0.582000													7	87					0	0	1	0	0
PRDM4	11108	broad.mit.edu	37	12	108138415	108138415	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr12:108138415G>A	ENST00000228437.5	-	7	1759	c.1300C>T	c.(1300-1302)Cct>Tct	p.P434S	RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	434	SET.				cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						GTCCGCACAGGAATGGTTTCT	0.463000													24	49					0	0	1	0	0
FAM64A	54478	broad.mit.edu	37	17	6350812	6350812	+	Silent	SNP	C	C	G			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr17:6350812C>G	ENST00000572447.1	+	3	433	c.324C>G	c.(322-324)acC>acG	p.T108T	FAM64A_ENST00000576056.1_Silent_p.T108T|FAM64A_ENST00000572595.2_Silent_p.T139T|FAM64A_ENST00000570337.2_Silent_p.T108T|FAM64A_ENST00000250056.8_Silent_p.T108T|FAM64A_ENST00000571373.1_Silent_p.T108T	NM_019013.2	NP_061886.2	Q9BSJ6	FA64A_HUMAN	family with sequence similarity 64, member A	108						nucleolus	protein binding			breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				COAD - Colon adenocarcinoma(228;0.141)		AAAGTGGCACCAAGTGGCTGG	0.587000													13	125					0	0	1	0	0
ETV7	51513	broad.mit.edu	37	6	36336705	36336705	+	Splice_Site	SNP	C	C	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr6:36336705C>A	ENST00000373738.1	-	5	1488		c.e5+1		ETV7_ENST00000538992.1_Splice_Site|ETV7_ENST00000373737.4_Splice_Site|ETV7_ENST00000339796.5_Splice_Site|ETV7_ENST00000340181.4_Splice_Site	NM_001207036.1	NP_001193965.1	Q9Y603	ETV7_HUMAN	ets variant 7						organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						CCGAGGCTCACCTTGTGATTT	0.542000													43	114					4.10826e-27	4.39268e-27	1	1	0
CIZ1	25792	broad.mit.edu	37	9	130931351	130931351	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr9:130931351C>T	ENST00000538431.1	-	15	2600	c.2353G>A	c.(2353-2355)Gag>Aag	p.E785K	CIZ1_ENST00000277465.4_Missense_Mutation_p.E731K|CIZ1_ENST00000357558.5_Missense_Mutation_p.E731K|CIZ1_ENST00000372954.1_Missense_Mutation_p.E679K|CIZ1_ENST00000541172.1_Missense_Mutation_p.E658K|CIZ1_ENST00000393608.1_Missense_Mutation_p.E759K|CIZ1_ENST00000325721.8_Missense_Mutation_p.E730K|CIZ1_ENST00000372938.5_Missense_Mutation_p.E759K|CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000372948.3_Missense_Mutation_p.E703K	NM_001257975.1	NP_001244904.1	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	759						nucleus	nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						AGTtcctcctcaacctcgatc	0.582000													40	98					0	0	1	0	0
MECR	51102	broad.mit.edu	37	1	29528535	29528535	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr1:29528535C>G	ENST00000373791.3	-	6	820	c.448G>C	c.(448-450)Gac>Cac	p.D150H	MECR_ENST00000263702.6_Missense_Mutation_p.D226H	NM_001024732.1|NM_016011.2	NP_001019903|NP_057095.3	Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	226					fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		TTCAGTCTGTCACTCAGCTTC	0.507000													53	201					0	0	1	0	0
ZNF551	90233	broad.mit.edu	37	19	58198938	58198938	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr19:58198938C>T	ENST00000282296.5	+	3	1480	c.1295C>T	c.(1294-1296)tCg>tTg	p.S432L	ZNF551_ENST00000356715.4_Missense_Mutation_p.S416L|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Intron			Q7Z340	ZN551_HUMAN	zinc finger protein 551	432					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AGCTGCAAATCGGAACTCATT	0.398000													4	114					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333000	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			29	41					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60902601	60902601	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr20:60902601G>A	ENST00000252999.3	-	37	4988	c.4922C>T	c.(4921-4923)tCc>tTc	p.S1641F		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1641	Laminin IV type A.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCGGGTGTAGGACGAGCTCCG	0.637000													10	49					0	0	1	0	0
ZNF224	7767	broad.mit.edu	37	19	44611954	44611954	+	Silent	SNP	G	G	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr19:44611954G>A	ENST00000336976.6	+	6	1895	c.1641G>A	c.(1639-1641)aaG>aaA	p.K547K	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	547					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				AATGTGGGAAGAGTTTTGGCT	0.418000													31	92					0	0	1	0	0
ABHD1	84696	broad.mit.edu	37	2	27353230	27353230	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr2:27353230C>T	ENST00000316470.4	+	8	1066	c.952C>T	c.(952-954)Cgg>Tgg	p.R318W		NM_032604.3	NP_115993	Q96SE0	ABHD1_HUMAN	abhydrolase domain containing 1	318						integral to membrane	carboxylesterase activity			endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGATGCCATCCGGATCCCTGT	0.522000													6	121					0	0	1	0	0
KRTAP10-8	386681	broad.mit.edu	37	21	46032697	46032697	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr21:46032697C>A	ENST00000334662.2	+	1	702	c.680C>A	c.(679-681)tCc>tAc	p.S227Y	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	227	19 X 5 AA repeats of C-C-X(3).					keratin filament				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						cctgtcccctcctgttgtgtc	0.711000													15	63					1.3612e-06	1.39636e-06	1	1	0
N4BP2L2	10443	broad.mit.edu	37	13	33096356	33096356	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr13:33096356T>C	ENST00000267068.3	-	4	1600	c.1436A>G	c.(1435-1437)aAt>aGt	p.N479S	N4BP2L2_ENST00000504114.1_Missense_Mutation_p.N35S|N4BP2L2_ENST00000357505.6_Missense_Mutation_p.N35S|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.N50S|N4BP2L2_ENST00000446957.2_Missense_Mutation_p.N479S	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	479										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		AGCTTGTATATTAGTGTTATC	0.254000													25	112					0	0	1	0	0
CLMP	79827	broad.mit.edu	37	11	122953896	122953896	+	Silent	SNP	T	T	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr11:122953896T>A	ENST00000448775.2	-	5	916	c.576A>T	c.(574-576)cgA>cgT	p.R192R	CLMP_ENST00000530371.1_5'UTR	NM_024769.2	NP_079045.1	Q9H6B4	CLMP_HUMAN	CXADR-like membrane protein	192	Ig-like C2-type 2.					integral to membrane|tight junction				endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						GCAGCAGAACTCGTCCAGGGT	0.448000													5	83					0	0	1	0	0
ARHGAP24	83478	broad.mit.edu	37	4	86491847	86491847	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr4:86491847C>G	ENST00000395184.1	+	2	619	c.153C>G	c.(151-153)ttC>ttG	p.F51L	ARHGAP24_ENST00000503995.1_Missense_Mutation_p.F51L|ARHGAP24_ENST00000506421.1_3'UTR	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	51	PH.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		TCTATTATTTCAAAGATGAAG	0.448000													18	48					0	0	1	0	0
TRPM7	54822	broad.mit.edu	37	15	50884255	50884255	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr15:50884255G>A	ENST00000313478.7	-	26	4458	c.4177C>T	c.(4177-4179)Cat>Tat	p.H1393Y	TRPM7_ENST00000560955.1_Missense_Mutation_p.H1393Y	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1393					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		GATGACAGATGTGGTATGCTA	0.388000													9	79					0	0	1	0	0
ANO6	196527	broad.mit.edu	37	12	45803269	45803269	+	Splice_Site	SNP	G	G	C			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr12:45803269G>C	ENST00000320560.8	+	16	2212	c.2010G>C	c.(2008-2010)atG>atC	p.M670I	ANO6_ENST00000435642.1_Splice_Site_p.M670I|ANO6_ENST00000425752.2_Splice_Site_p.M670I|ANO6_ENST00000441606.2_Splice_Site_p.M652I|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000423947.3_Splice_Site_p.M691I	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	670					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						ATCTTGAAATGAGTAAGTTGT	0.353000													33	73					0	0	1	0	0
KCNJ9	3765	broad.mit.edu	37	1	160057491	160057491	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr1:160057491C>G	ENST00000368088.3	+	3	1308	c.1066C>G	c.(1066-1068)Cgg>Ggg	p.R356G		NM_004983.2	NP_004974.2	Q92806	IRK9_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 9	356					synaptic transmission	integral to membrane|plasma membrane	G-protein activated inward rectifier potassium channel activity|protein binding			biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CATCCCCAGCCGGCTGGATGA	0.662000													3	23					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27089676	27089676	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr1:27089676C>T	ENST00000324856.7	+	8	3003	c.2632C>T	c.(2632-2634)Cag>Tag	p.Q878*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q495*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q878*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	878					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.Q878*(3)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TATGCCACCTCAGGTTGGGTC	0.577000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								11	25					0	0	1	0	0
PCNA	5111	broad.mit.edu	37	20	5099478	5099478	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr20:5099478C>T	ENST00000379160.3	-	3	498	c.256G>A	c.(256-258)Gat>Aat	p.D86N	PCNA_ENST00000379143.5_Missense_Mutation_p.D86N	NM_002592.2	NP_002583.1	P12004	PCNA_HUMAN	proliferating cell nuclear antigen	86	Interaction with NUDT15.				cell proliferation|DNA strand elongation involved in DNA replication|mismatch repair|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|positive regulation of deoxyribonuclease activity|regulation of DNA replication|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair|translesion synthesis	cytoplasm|DNA replication factor C complex|microtubule cytoskeleton|nuclear replication fork|nucleoplasm|PCNA complex|PCNA-p21 complex	dinucleotide insertion or deletion binding|DNA polymerase processivity factor activity|MutLalpha complex binding|purine-specific mismatch base pair DNA N-glycosylase activity	p.D86Y(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(2)	9						GTAATGATATCTTCATTGCCG	0.453000								DNA polymerases (catalytic subunits)					43	147					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186094813	186094813	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr1:186094813G>A	ENST00000271588.4	+	82	12806	c.12577G>A	c.(12577-12579)Gat>Aat	p.D4193N	HMCN1_ENST00000367492.2_Missense_Mutation_p.D4193N	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4193	Ig-like C2-type 41.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATGCGTAGCTGATGGAATCCC	0.393000													14	78					0	0	1	0	0
AK9	221264	broad.mit.edu	37	6	109827600	109827600	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr6:109827600C>G	ENST00000424296.2	-	35	4855	c.4779G>C	c.(4777-4779)tgG>tgC	p.W1593C	RP5-919F19.5_ENST00000423747.2_RNA	NM_001145128.2	NP_001138600.2			adenylate kinase 9																		TGACTTCATTCCATACCCACC	0.333000													14	64					0	0	1	0	0
PI4KB	5298	broad.mit.edu	37	1	151276057	151276057	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr1:151276057C>G	ENST00000368875.2	-	7	2096	c.1516G>C	c.(1516-1518)Gag>Cag	p.E506Q	PI4KB_ENST00000271657.5_Missense_Mutation_p.E506Q|PI4KB_ENST00000529142.1_Missense_Mutation_p.E162Q|PI4KB_ENST00000368872.1_Missense_Mutation_p.E479Q|PI4KB_ENST00000368873.1_Missense_Mutation_p.E494Q|PI4KB_ENST00000368874.4_Missense_Mutation_p.E479Q	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	494					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCCTTGCTCTCCTGGCTGGTG	0.537000													49	170					0	0	1	0	0
NEURL4	84461	broad.mit.edu	37	17	7229863	7229863	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr17:7229863C>T	ENST00000399464.2	-	5	1112	c.1097G>A	c.(1096-1098)cGt>cAt	p.R366H	NEURL4_ENST00000570460.1_Missense_Mutation_p.R344H|NEURL4_ENST00000315614.7_Missense_Mutation_p.R366H	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4									p.R366H(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTTGTCGATACGGATCTGGCA	0.547000													3	34					0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12123690	12123690	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr6:12123690G>A	ENST00000379388.2	+	4	3994	c.3662G>A	c.(3661-3663)gGa>gAa	p.G1221E		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1221					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CATGTGTTAGGACAGCCCTCA	0.507000													12	33					0	0	1	0	0
MIEN1	84299	broad.mit.edu	37	17	37886523	37886523	+	Silent	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr17:37886523C>T	ENST00000394231.3	-	2	402	c.111G>A	c.(109-111)gcG>gcA	p.A37A	ERBB2_ENST00000584888.1_3'UTR|MIEN1_ENST00000577810.1_Silent_p.A37A|MIEN1_ENST00000474210.1_Intron			Q9BRT3	CQ037_HUMAN	migration and invasion enhancer 1	37					cell redox homeostasis	cytosol|membrane	selenium binding										CCAGGTAGGTCGCCTCGAAGC	0.687000											OREG0024383	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	11					0	0	1	0	0
KDM6A	7403	broad.mit.edu	37	X	44929469	44929469	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chrX:44929469G>A	ENST00000377967.4	+	17	2610	c.2569G>A	c.(2569-2571)Gaa>Aaa	p.E857K	KDM6A_ENST00000543216.1_Missense_Mutation_p.E778K|KDM6A_ENST00000382899.4_Missense_Mutation_p.E864K|KDM6A_ENST00000536777.1_Missense_Mutation_p.E812K	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	857					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AATTAATGGAGAAGGGATGGA	0.448000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								9	38					0	0	1	0	0
PQLC1	80148	broad.mit.edu	37	18	77710815	77710815	+	Translation_Start_Site	SNP	G	G	C			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr18:77710815G>C	ENST00000409073.1	-	0	2				PQLC1_ENST00000357575.4_Missense_Mutation_p.R38G|PQLC1_ENST00000397778.2_Missense_Mutation_p.R38G|PQLC1_ENST00000590381.1_Missense_Mutation_p.R38G			Q8N2U9	PQLC1_HUMAN	PQ loop repeat containing 1							integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	9		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)		CGAATGTCCCGATACTGCGGG	0.647000													4	24					0	0	1	0	0
GJB2	2706	broad.mit.edu	37	13	20763093	20763093	+	Missense_Mutation	SNP	A	A	C			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr13:20763093A>C	ENST00000382844.1	-	1	826	c.628T>G	c.(628-630)Ttg>Gtg	p.L210V	GJB2_ENST00000382848.4_Missense_Mutation_p.L210V			P29033	CXB2_HUMAN	gap junction protein, beta 2, 26kDa	210					cell-cell signaling|cellular membrane organization|gap junction assembly|sensory perception of sound|transport	connexon complex|ER-Golgi intermediate compartment|integral to membrane				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738)		AAATAACACAATTCAGTGACA	0.428000									Keratitis, Ichthyosis and Deafness syndrome				22	77					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53574942	53574942	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chrX:53574942A>G	ENST00000342160.3	-	67	10785	c.10328T>C	c.(10327-10329)aTc>aCc	p.I3443T	HUWE1_ENST00000262854.6_Missense_Mutation_p.I3443T|HUWE1_ENST00000474288.1_5'UTR			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3443					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GCTCCGGCGGATGACTGGGTG	0.537000													5	27					0	0	1	0	0
MIS18BP1	55320	broad.mit.edu	37	14	45693640	45693640	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr14:45693640C>T	ENST00000310806.4	-	11	2608	c.2150G>A	c.(2149-2151)cGt>cAt	p.R717H		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	717					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						AAGTAAGTCACGTTCATCGCA	0.348000													11	71					0	0	1	0	0
RB1CC1	9821	broad.mit.edu	37	8	53570011	53570011	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr8:53570011G>C	ENST00000025008.5	-	15	2901	c.2378C>G	c.(2377-2379)tCt>tGt	p.S793C	RB1CC1_ENST00000539297.1_Missense_Mutation_p.S793C|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.S793C	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	793					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				GACATTCAGAGAAGTATGATC	0.383000													5	186					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113205985	113205985	+	Silent	SNP	C	C	G			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr9:113205985C>G	ENST00000401783.2	-	27	4815	c.4479G>C	c.(4477-4479)gtG>gtC	p.V1493V	SVEP1_ENST00000302728.8_Silent_p.V1493V|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Silent_p.V1470V	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1493	Pentaxin.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCCTGCCATTCACATAAAGAA	0.428000													7	24					0	0	1	0	0
TRHR	7201	broad.mit.edu	37	8	110099824	110099824	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr8:110099824C>T	ENST00000518632.1	+	2	434	c.83C>T	c.(82-84)aCc>aTc	p.T28I	TRHR_ENST00000311762.2_Missense_Mutation_p.T28I			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	28						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CAGGTGGTCACCATCTTACTT	0.468000													28	37					0	0	1	0	0
KIT	3815	broad.mit.edu	37	4	55569979	55569979	+	Silent	SNP	T	T	G			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr4:55569979T>G	ENST00000288135.5	+	5	943	c.846T>G	c.(844-846)gtT>gtG	p.V282V		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	282	Ig-like C2-type 3.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CAGCGAGAGTTAATGATTCTG	0.398000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				10	134					0	0	1	0	0
SYCE2	256126	broad.mit.edu	37	19	13015350	13015350	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr19:13015350C>T	ENST00000293695.7	-	3	280	c.262G>A	c.(262-264)Gac>Aac	p.D88N	SYCE2_ENST00000591229.1_5'UTR	NM_001105578.1	NP_001099048.1	Q6PIF2	SYCE2_HUMAN	synaptonemal complex central element protein 2	88					cell division	central element				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						AGTGCATGGTCCTTTTGCCGG	0.527000													19	120					0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155200468	155200468	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr3:155200468G>C	ENST00000460012.1	-	23	3614	c.3257C>G	c.(3256-3258)tCa>tGa	p.S1086*	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Nonsense_Mutation_p.S1086*|PLCH1_ENST00000340059.7_Nonsense_Mutation_p.S1124*|PLCH1_ENST00000414191.1_Nonsense_Mutation_p.S1086*			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1124					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GACGCTTCCTGACAAGATGCT	0.468000													10	79					0	0	1	0	0
SPTBN1	6711	broad.mit.edu	37	2	54891635	54891635	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr2:54891635G>T	ENST00000356805.4	+	33	6747	c.6466G>T	c.(6466-6468)Gaa>Taa	p.E2156*		NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	2156					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CGGCGCTACAGAACAAAGGAC	0.592000													47	114					6.68952e-21	7.07105e-21	1	1	0
IRAK2	3656	broad.mit.edu	37	3	10280688	10280688	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr3:10280688C>G	ENST00000256458.4	+	12	1820	c.1730C>G	c.(1729-1731)tCt>tGt	p.S577C		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	577					activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						GACTCCTCCTCTGAGGCCTGT	0.602000													12	25					0	0	1	0	0
ZNF382	84911	broad.mit.edu	37	19	37100889	37100889	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr19:37100889G>C	ENST00000435416.1	+	1	1568	c.73G>C	c.(73-75)Gac>Cac	p.D25H	ZNF382_ENST00000439428.1_Missense_Mutation_p.D24H|ZNF382_ENST00000292928.2_Missense_Mutation_p.D25H|ZNF382_ENST00000423582.1_Intron			Q96SR6	ZN382_HUMAN	zinc finger protein 382	25	KRAB.|Mediates interaction with TRIM28 (By similarity).|Represses transcription (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GCAGCAACTAGACCCTGCTCA	0.478000													13	93					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216061779	216061779	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr1:216061779C>T	ENST00000366943.2	-	41	8598	c.8212G>A	c.(8212-8214)Gat>Aat	p.D2738N	USH2A_ENST00000307340.3_Missense_Mutation_p.D2738N|RP5-1111A8.3_ENST00000414995.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2738	Fibronectin type-III 14.				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)		TGGACTGCATCGGGTTCCAGC	0.502000										HNSCC(13;0.011)			6	45					0	0	1	0	0
ZMPSTE24	10269	broad.mit.edu	37	1	40747027	40747027	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr1:40747027C>T	ENST00000372759.3	+	7	947	c.782C>T	c.(781-783)tCt>tTt	p.S261F		NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	261						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			TCTAAACGCTCTTCCCACAGC	0.363000													14	156					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41526055	41526055	+	Silent	SNP	C	C	T	rs143994699		TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr8:41526055C>T	ENST00000396942.1	-	39	5207	c.5124G>A	c.(5122-5124)tcG>tcA	p.S1708S	ANK1_ENST00000347528.4_Silent_p.S1708S|ANK1_ENST00000379758.2_Silent_p.S1708S|ANK1_ENST00000396945.1_Silent_p.S1708S|ANK1_ENST00000289734.7_Silent_p.S1708S|ANK1_ENST00000265709.8_Silent_p.S1749S|ANK1_ENST00000352337.4_Silent_p.S1708S			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1708	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			ATGAGACAATCGAGCCGTCTG	0.562000													10	26					0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97822687	97822687	+	Silent	SNP	G	G	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr7:97822687G>A	ENST00000297293.5	+	11	3203	c.2910G>A	c.(2908-2910)tcG>tcA	p.S970S		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	970					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CCCTCTCCTCGGACTCAACCA	0.552000													19	84					0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18721542	18721542	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr9:18721542G>A	ENST00000380548.4	+	15	2224	c.1885G>A	c.(1885-1887)Gag>Aag	p.E629K	ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.E629K	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	629	TSP type-1 5.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		AGGTGTCCAGGAGGCTGTGGT	0.597000													17	55					0	0	1	0	0
LUC7L	55692	broad.mit.edu	37	16	258098	258098	+	Silent	SNP	G	G	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr16:258098G>A	ENST00000337351.4	-	4	468	c.345C>T	c.(343-345)atC>atT	p.I115I	LUC7L_ENST00000397783.1_Silent_p.I115I|LUC7L_ENST00000293872.8_Silent_p.I115I|LUC7L_ENST00000397780.1_Silent_p.I62I	NM_018032.3	NP_060502.1	Q9NQ29	LUC7L_HUMAN	LUC7-like (S. cerevisiae)	115							metal ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	11		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				CTTCCGCACTGATTTCCTCCT	0.468000													12	86					0	0	1	0	0
SDC4	6385	broad.mit.edu	37	20	43959198	43959198	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr20:43959198G>C	ENST00000372733.3	-	4	292	c.253C>G	c.(253-255)Cta>Gta	p.L85V	SDC4_ENST00000537976.1_Missense_Mutation_p.L13V	NM_002999.3	NP_002990.2	P31431	SDC4_HUMAN	syndecan 4	85						extracellular region|integral to plasma membrane	cytoskeletal protein binding|thrombospondin receptor activity		SDC4/ROS1(7)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5		Myeloproliferative disorder(115;0.0122)				TGGTTATCTAGAGGCACCTGG	0.537000			T	ROS1	NSCLC								8	17					0	0	1	0	0
DBX2	440097	broad.mit.edu	37	12	45417677	45417677	+	Splice_Site	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr12:45417677C>T	ENST00000332700.6	-	3	671	c.500G>A	c.(499-501)aGa>aAa	p.R167K		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	167						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		GCTCTCTTCTCCTAGAGTCGA	0.453000													7	22					0	0	1	0	0
ZBTB7B	51043	broad.mit.edu	37	1	154988052	154988052	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr1:154988052G>A	ENST00000368426.3	+	3	1053	c.916G>A	c.(916-918)Gat>Aat	p.D306N	ZBTB7B_ENST00000535420.1_Missense_Mutation_p.D306N|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.D306N|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.D340N	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	306					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCTGGGCTCAGATGAGGATGC	0.622000													4	22					0	0	1	0	0
TMEM170B	100113407	broad.mit.edu	37	6	11575764	11575764	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr6:11575764C>G	ENST00000379426.1	+	3	369	c.369C>G	c.(367-369)atC>atG	p.I123M	TMEM170B_ENST00000543875.1_Missense_Mutation_p.I123M	NM_001100829.1	NP_001094299.1	Q5T4T1	T170B_HUMAN	transmembrane protein 170B	123						integral to membrane				large_intestine(3)|lung(5)	8						CATTAATCATCTCCTTTTCAA	0.468000													16	94					0	0	1	0	0
CHMP2A	27243	broad.mit.edu	37	19	59065496	59065496	+	Silent	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr19:59065496C>T	ENST00000600118.1	-	1	509	c.84G>A	c.(82-84)gaG>gaA	p.E28E	CHMP2A_ENST00000601220.1_Silent_p.E28E|CHMP2A_ENST00000312547.2_Silent_p.E28E			O43633	CHM2A_HUMAN	charged multivesicular body protein 2A	28					cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein domain specific binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		CGCGGTCCAGCTCCCGCATGG	0.567000													21	160					0	0	1	0	0
LDLRAD4	753	broad.mit.edu	37	18	13438363	13438363	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr18:13438363C>T	ENST00000361205.4	+	4	829	c.161C>T	c.(160-162)cCg>cTg	p.P54L	LDLRAD4_ENST00000359446.5_Missense_Mutation_p.P54L|LDLRAD4_ENST00000399848.3_Missense_Mutation_p.P54L	NM_001276249.1|NM_181481.3	NP_001263178.1|NP_852146.1			low density lipoprotein receptor class A domain containing 4																		ACCGAGCACCCGCCTCCGGGC	0.547000													5	57					0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121413923	121413923	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr3:121413923C>T	ENST00000393667.3	-	13	5557	c.5447G>A	c.(5446-5448)tGt>tAt	p.C1816Y	GOLGB1_ENST00000340645.5_Missense_Mutation_p.C1811Y	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	1811					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CGATTCTGAACATGTAGGTCT	0.428000													93	144					0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20345046	20345046	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr14:20345046C>T	ENST00000298642.2	+	1	656	c.620C>T	c.(619-621)gCg>gTg	p.A207V		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A207V(1)|p.A207E(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGCATAATTGCGTTGTCCTGT	0.398000													27	292					0	0	1	0	0
PPP1R15B	84919	broad.mit.edu	37	1	204380497	204380497	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr1:204380497G>A	ENST00000367188.4	-	1	422	c.43C>T	c.(43-45)Cgg>Tgg	p.R15W	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	15					regulation of translation					breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			AAGCCCGCCCGAGGGCCAAGC	0.647000													14	86					0	0	1	0	0
TCF23	150921	broad.mit.edu	37	2	27373073	27373073	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr2:27373073C>G	ENST00000296096.5	+	2	435	c.305C>G	c.(304-306)gCt>gGt	p.A102G		NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	102	Helix-loop-helix motif.				cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGCAGGCTGCTCTGCCTGCC	0.692000													5	67					0	0	1	0	0
LRRC30	339291	broad.mit.edu	37	18	7231979	7231979	+	Silent	SNP	G	G	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr18:7231979G>A	ENST00000383467.2	+	1	857	c.843G>A	c.(841-843)ccG>ccA	p.P281P		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	281										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						AGCCTCTGCCGGAGCTGGTGG	0.592000													21	245					0	0	1	0	0
LDHC	3948	broad.mit.edu	37	11	18451308	18451308	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr11:18451308G>A	ENST00000541669.1	+	4	380	c.269G>A	c.(268-270)aGa>aAa	p.R90K	LDHC_ENST00000535809.1_Missense_Mutation_p.R90K|LDHC_ENST00000546146.1_Intron|LDHC_ENST00000544105.1_Missense_Mutation_p.R90K|LDHC_ENST00000537486.1_Missense_Mutation_p.R90K|LDHC_ENST00000280704.4_Missense_Mutation_p.R90K|LDHC_ENST00000536880.1_Intron			P07864	LDHC_HUMAN	lactate dehydrogenase C	90					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					NADH(DB00157)	GCAAACTCCAGAATAGTTATT	0.403000													7	53					0	0	1	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88874861	88874861	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr2:88874861G>T	ENST00000303236.3	-	13	2441	c.2140C>A	c.(2140-2142)Cct>Act	p.P714T	EIF2AK3_ENST00000470706.1_Intron|EIF2AK3_ENST00000419748.1_Missense_Mutation_p.P563T|AC104134.2_ENST00000413234.1_RNA	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	714	Protein kinase.				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						TGTGGTGAAGGAGCTATGATT	0.448000													58	143					1.08141e-31	1.16074e-31	1	1	0
CHRM1	1128	broad.mit.edu	37	11	62677791	62677791	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr11:62677791C>T	ENST00000306960.3	-	2	1323	c.782G>A	c.(781-783)cGc>cAc	p.R261H	AP000438.2_ENST00000543624.1_RNA	NM_000738.2	NP_000729.2	P11229	ACM1_HUMAN	cholinergic receptor, muscarinic 1	261					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process	cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding			large_intestine(5)|lung(3)|stomach(1)	9					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209)	CCGGCAGCAGCGACAGCAGCG	0.652000													30	59					0	0	1	0	0
FCN3	8547	broad.mit.edu	37	1	27700473	27700473	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr1:27700473C>A	ENST00000270879.4	-	3	220	c.215G>T	c.(214-216)gGc>gTc	p.G72V	FCN3_ENST00000354982.2_Missense_Mutation_p.G72V	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN	ficolin (collagen/fibrinogen domain containing) 3	72	Collagen-like.				complement activation, lectin pathway|signal transduction	collagen|extracellular space	receptor binding|sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		ACCCTTGGGGCCCATCTTGCC	0.577000													7	89					5.18039e-06	5.29466e-06	1	1	0
PAFAH1B1	5048	broad.mit.edu	37	17	2570426	2570426	+	Silent	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr17:2570426C>T	ENST00000397195.5	+	5	784	c.333C>T	c.(331-333)gtC>gtT	p.V111V	PAFAH1B1_ENST00000572915.2_3'UTR	NM_000430.3	NP_000421.1	P43034	LIS1_HUMAN	platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)	111	Interaction with dynein and dynactin.				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						GGAGTCCAGTCACTCGAGTCA	0.443000													15	83					0	0	1	0	0
BCL2L13	23786	broad.mit.edu	37	22	18209497	18209497	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr22:18209497G>A	ENST00000317582.5	+	7	1002	c.655G>A	c.(655-657)Gaa>Aaa	p.E219K	BCL2L13_ENST00000418951.2_3'UTR|BCL2L13_ENST00000355028.3_Silent_p.Q147Q|BCL2L13_ENST00000337612.5_Missense_Mutation_p.E57K|BCL2L13_ENST00000538149.1_Missense_Mutation_p.E95K|BCL2L13_ENST00000485631.1_3'UTR|BCL2L13_ENST00000543133.1_Missense_Mutation_p.E57K	NM_015367.3	NP_056182.2	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	219					induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity			breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		AATCACTGCAGAAGATAGCAA	0.468000													12	44					0	0	1	0	0
FCGR2A	2212	broad.mit.edu	37	1	161487893	161487893	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr1:161487893C>G	ENST00000271450.6	+	7	947	c.909C>G	c.(907-909)atC>atG	p.I303M	RP11-25K21.6_ENST00000537821.2_RNA|FCGR2A_ENST00000486608.1_3'UTR|FCGR2A_ENST00000367972.4_Missense_Mutation_p.I302M	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	303						integral to membrane|plasma membrane	IgG binding|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ATAAAAACATCTACCTGACTC	0.443000													24	69					0	0	1	0	0
MED1	5469	broad.mit.edu	37	17	37566429	37566429	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr17:37566429G>A	ENST00000300651.6	-	17	2268	c.2045C>T	c.(2044-2046)tCg>tTg	p.S682L	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	682	Interaction with ESR1.|Interaction with GATA1 (By similarity).|Interaction with PPARGC1A and THRA.|Interaction with VDR.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GTTGCTCCCCGAGCATATTTC	0.458000										HNSCC(31;0.082)			43	110					0	0	1	0	0
ARSJ	79642	broad.mit.edu	37	4	114823588	114823588	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr4:114823588C>A	ENST00000315366.7	-	2	2508	c.1642G>T	c.(1642-1644)Gga>Tga	p.G548*	ARSJ_ENST00000541197.1_Nonsense_Mutation_p.G548*	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	548						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		CAGACCCCTCCATTGAGCCTA	0.458000													11	23					2.68362e-12	2.79418e-12	1	1	0
ABI3BP	25890	broad.mit.edu	37	3	100605051	100605051	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr3:100605051C>G	ENST00000471714.1	-	5	708	c.599G>C	c.(598-600)gGa>gCa	p.G200A	ABI3BP_ENST00000284322.5_Missense_Mutation_p.G200A|ABI3BP_ENST00000495063.1_Missense_Mutation_p.G200A			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	200	Fibronectin type-III 1.					extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GTCTTTCACTCCAAATTCATA	0.353000													5	82					0	0	1	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88874770	88874770	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr2:88874770G>C	ENST00000303236.3	-	13	2532	c.2231C>G	c.(2230-2232)tCa>tGa	p.S744*	EIF2AK3_ENST00000470706.1_Intron|EIF2AK3_ENST00000419748.1_Nonsense_Mutation_p.S593*|AC104134.2_ENST00000413234.1_RNA	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	744	Protein kinase.				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						GTCCATTCCTGAGAATTCCAG	0.473000													103	254					0	0	1	0	0
SLC35C2	51006	broad.mit.edu	37	20	44987141	44987141	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr20:44987141C>G	ENST00000372227.1	-	2	545	c.5G>C	c.(4-6)gGg>gCg	p.G2A	SLC35C2_ENST00000243896.2_Missense_Mutation_p.G2A|SLC35C2_ENST00000372229.1_Intron|SLC35C2_ENST00000543605.1_Missense_Mutation_p.G31A|SLC35C2_ENST00000372230.5_Missense_Mutation_p.G2A|SLC35C2_ENST00000317734.8_Missense_Mutation_p.G2A	NM_001281458.1|NM_001281460.1	NP_001268387.1|NP_001268389.1	Q9NQQ7	S35C2_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C2	2					transport	integral to membrane				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16		Myeloproliferative disorder(115;0.0122)				GGCCCACCTCCCCATTCGTGG	0.597000													4	33					0	0	1	0	0
KIF6	221458	broad.mit.edu	37	6	39545860	39545860	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr6:39545860C>G	ENST00000287152.7	-	10	1247	c.1153G>C	c.(1153-1155)Gag>Cag	p.E385Q	KIF6_ENST00000538893.1_Missense_Mutation_p.E385Q|KIF6_ENST00000373216.3_Missense_Mutation_p.E385Q|KIF6_ENST00000373215.3_Missense_Mutation_p.E385Q|KIF6_ENST00000373213.4_Missense_Mutation_p.E224Q	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	385					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GTGAGTGCCTCTGTCCTCTGC	0.433000													28	81					0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73835139	73835139	+	Missense_Mutation	SNP	A	A	C			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr6:73835139A>C	ENST00000355635.3	+	9	1229	c.1229A>C	c.(1228-1230)cAg>cCg	p.Q410P	KCNQ5_ENST00000402622.2_Intron|KCNQ5_ENST00000355194.4_Intron|KCNQ5_ENST00000342056.2_Intron|KCNQ5_ENST00000414165.2_Intron|KCNQ5_ENST00000403813.2_Intron|KCNQ5_ENST00000370398.1_Intron			Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	409					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		AGGCAGAACCAGCAAGGAGAA	0.448000													4	17					0	0	1	0	0
C3orf20	84077	broad.mit.edu	37	3	14731530	14731530	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr3:14731530G>A	ENST00000253697.3	+	5	1104	c.652G>A	c.(652-654)Ggg>Agg	p.G218R	C3orf20_ENST00000435614.1_Missense_Mutation_p.G96R|C3orf20_ENST00000412910.1_Missense_Mutation_p.G96R	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	218						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GTCCGCCATTGGGGTGAACTC	0.428000													19	81					0	0	1	0	0
CNBD1	168975	broad.mit.edu	37	8	88365950	88365950	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr8:88365950C>A	ENST00000518476.1	+	10	1290	c.1239C>A	c.(1237-1239)ttC>ttA	p.F413L		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	413										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						AAGTTCCTTTCACGTGCACAA	0.328000													25	28					2.50493e-22	2.66809e-22	1	1	0
PDHA1	5160	broad.mit.edu	37	X	19375801	19375801	+	Missense_Mutation	SNP	G	G	C	rs137853258		TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chrX:19375801G>C	ENST00000379806.5	+	10	1122	c.977G>C	c.(976-978)cGt>cCt	p.R326P	PDHA1_ENST00000379804.1_Missense_Mutation_p.R7P|PDHA1_ENST00000545074.1_Missense_Mutation_p.R295P|PDHA1_ENST00000540249.1_Missense_Mutation_p.R257P|PDHA1_ENST00000478795.1_3'UTR|PDHA1_ENST00000422285.2_Missense_Mutation_p.R288P	NM_001173454.1	NP_001166925.1	P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	288					glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)				NADH(DB00157)	CAGACTTACCGTTACCACGGA	0.527000													4	193					0	0	1	0	0
NKRF	55922	broad.mit.edu	37	X	118724536	118724536	+	Silent	SNP	C	C	G			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chrX:118724536C>G	ENST00000371527.1	-	2	1504	c.852G>C	c.(850-852)cgG>cgC	p.R284R	NKRF_ENST00000487600.1_Intron|NKRF_ENST00000542113.1_Silent_p.R299R|NKRF_ENST00000304449.5_Silent_p.R284R	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	284	Active repression domain.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						TGAATTTCCGCCGGACAACTC	0.483000													18	134					0	0	1	0	0
HECTD2	143279	broad.mit.edu	37	10	93252127	93252127	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr10:93252127G>C	ENST00000446394.1	+	14	1430	c.1330G>C	c.(1330-1332)Gat>Cat	p.D444H	HECTD2_ENST00000371667.1_Missense_Mutation_p.D90H|HECTD2_ENST00000536715.1_Missense_Mutation_p.D29H|HECTD2_ENST00000298068.5_Missense_Mutation_p.D440H	NM_001284274.1	NP_001271203.1	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	440	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	p.D440Y(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						GAAAAGAGCCGATTTGAAAAA	0.343000													11	55					0	0	1	0	0
RIOK3	8780	broad.mit.edu	37	18	21053464	21053464	+	Missense_Mutation	SNP	T	T	G			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr18:21053464T>G	ENST00000339486.3	+	8	1504	c.887T>G	c.(886-888)cTt>cGt	p.L296R	RIOK3_ENST00000577501.1_Missense_Mutation_p.L296R|RIOK3_ENST00000581585.1_Missense_Mutation_p.L280R	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	296	Protein kinase.				chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AAAACAACCCTTAATGAATTT	0.338000													4	52					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963494	73963494	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chrX:73963494C>A	ENST00000055682.6	-	3	1509	c.898G>T	c.(898-900)Gaa>Taa	p.E300*		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022						base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						AGTGTTGATTCATCATCATCA	0.398000													30	126					2.61193e-14	2.72976e-14	1	1	0
DDX21	9188	broad.mit.edu	37	10	70721909	70721909	+	Silent	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr10:70721909C>T	ENST00000354185.4	+	3	701	c.603C>T	c.(601-603)ctC>ctT	p.L201L		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	201						nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						TTAAACTTCTCAAAGGTAATG	0.323000													5	53					0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21870196	21870196	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr14:21870196C>T	ENST00000399982.2	-	19	4046	c.3982G>A	c.(3982-3984)Gag>Aag	p.E1328K	CHD8_ENST00000430710.3_Missense_Mutation_p.E1049K|CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000557364.1_Missense_Mutation_p.E1328K	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1328					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TCAATGTCCTCTTCACAAAAC	0.418000													11	85					0	0	1	0	0
LRSAM1	90678	broad.mit.edu	37	9	130236155	130236155	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr9:130236155G>A	ENST00000323301.4	+	10	1299	c.695G>A	c.(694-696)cGg>cAg	p.R232Q	LRSAM1_ENST00000373322.1_Missense_Mutation_p.R232Q|LRSAM1_ENST00000373324.4_Missense_Mutation_p.R232Q|LRSAM1_ENST00000300417.6_Missense_Mutation_p.R232Q	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	232					negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						GAGAACTCTCGGGACAGCCCT	0.547000													11	45					0	0	1	0	0
ADGRG1	9289	broad.mit.edu	37	16	57695846	57695846	+	Silent	SNP	C	C	G			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr16:57695846C>G	ENST00000562631.1	+	13	2434	c.1902C>G	c.(1900-1902)ctC>ctG	p.L634L	GPR56_ENST00000544297.1_Silent_p.L459L|GPR56_ENST00000388813.5_Silent_p.L634L|GPR56_ENST00000379696.3_Silent_p.L640L|GPR56_ENST00000540164.2_Silent_p.L634L|GPR56_ENST00000388812.4_Silent_p.L640L|GPR56_ENST00000568908.1_Silent_p.L634L|GPR56_ENST00000538815.1_Silent_p.L634L|GPR56_ENST00000379694.4_Silent_p.L470L|GPR56_ENST00000567835.1_Silent_p.L640L|GPR56_ENST00000562558.1_Silent_p.L634L|GPR56_ENST00000568909.1_Silent_p.L640L|GPR56_ENST00000456916.1_Silent_p.L640L			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	640					brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						TTGTCGTCCTCTACCTTTTCA	0.572000													19	67					0	0	1	0	0
SLC12A4	6560	broad.mit.edu	37	16	67985831	67985831	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr16:67985831A>G	ENST00000422611.2	-	7	1072	c.1033T>C	c.(1033-1035)Tgc>Cgc	p.C345R	SLC12A4_ENST00000338335.3_Missense_Mutation_p.C343R|SLC12A4_ENST00000316341.3_Missense_Mutation_p.C343R|SLC12A4_ENST00000537830.2_Missense_Mutation_p.C337R|SLC12A4_ENST00000576616.1_Missense_Mutation_p.C343R|SLC12A4_ENST00000572037.1_Missense_Mutation_p.C295R|SLC12A4_ENST00000541864.2_Missense_Mutation_p.C312R	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	343					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GGGCTGTGGCAGAAGAAACTC	0.582000													13	29					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100676991	100676991	+	Missense_Mutation	SNP	G	G	A	rs71557226		TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr7:100676991G>A	ENST00000306151.4	+	3	2358	c.2294G>A	c.(2293-2295)aGc>aAc	p.S765N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	765	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCTGAGGCTAGCACCCTTTCA	0.488000													41	285					0	0	1	0	0
BTN2A2	10385	broad.mit.edu	37	6	26390280	26390280	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr6:26390280A>G	ENST00000356709.4	+	5	883	c.772A>G	c.(772-774)Atc>Gtc	p.I258V	BTN2A2_ENST00000482536.1_Missense_Mutation_p.I48V|BTN2A2_ENST00000416795.2_Missense_Mutation_p.I258V|BTN2A2_ENST00000352867.2_Missense_Mutation_p.I142V|BTN2A2_ENST00000432533.2_Missense_Mutation_p.I164V|BTN2A2_ENST00000469230.1_Missense_Mutation_p.I258V	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	258					negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						CCTAGCTGTCATCCTGACCGC	0.473000													6	148					0	0	1	0	0
LRRN3	54674	broad.mit.edu	37	7	110764477	110764477	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr7:110764477C>G	ENST00000451085.1	+	4	2695	c.1649C>G	c.(1648-1650)tCt>tGt	p.S550C	IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000447215.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.S550C|IMMP2L_ENST00000331762.3_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.S550C|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000450877.1_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	550	Fibronectin type-III.					integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		ATTCTCAAATCTAGTGTTAAA	0.358000													5	21					0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87969936	87969936	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr6:87969936C>G	ENST00000369577.3	+	8	6632	c.6589C>G	c.(6589-6591)Cat>Gat	p.H2197D	ZNF292_ENST00000339907.4_Missense_Mutation_p.H2192D	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CATGAAACTTCATGAAATGAC	0.353000													60	153					0	0	1	0	0
TARSL2	123283	broad.mit.edu	37	15	102226192	102226192	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr15:102226192G>A	ENST00000335968.3	-	11	1610	c.1394C>T	c.(1393-1395)tCa>tTa	p.S465L		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	465					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCAGTGGCCTGAGGCTTCCCA	0.453000													9	81					0	0	1	0	0
PDCD2L	84306	broad.mit.edu	37	19	34895659	34895659	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr19:34895659C>T	ENST00000246535.3	+	2	261	c.214C>T	c.(214-216)Cac>Tac	p.H72Y	RP11-618P17.4_ENST00000606020.1_Missense_Mutation_p.H67Y	NM_032346.1	NP_115722.1	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	72						cytoplasm				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CTCCCCGTTTCACCGTCTGCT	0.706000													3	17					0	0	1	0	0
NKX2-2	4821	broad.mit.edu	37	20	21492707	21492707	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr20:21492707C>T	ENST00000377142.4	-	2	1032	c.676G>A	c.(676-678)Gcc>Acc	p.A226T	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	226					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						TGGAAGGTGGCGGCTGCCAGG	0.677000													3	25					0	0	1	0	0
PDXDC2P	283970	broad.mit.edu	37	16	70070411	70070411	+	RNA	SNP	G	G	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr16:70070411G>A	ENST00000531894.1	-	0	484					NR_003610.1																						TCTTCGTCCAGAGTCAAAATA	0.378000													13	92					0	0	1	0	0
PPP1R16A	84988	broad.mit.edu	37	8	145727029	145727029	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr8:145727029C>T	ENST00000292539.4	+	11	2247	c.1330C>T	c.(1330-1332)Ccc>Tcc	p.P444S	PPP1R16A_ENST00000435887.1_Missense_Mutation_p.P444S			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	444						plasma membrane	protein binding			NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CAGCACCACCCCCCACACCCT	0.667000													7	5					0	0	1	0	0
METTL16	79066	broad.mit.edu	37	17	2341488	2341488	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr17:2341488G>C	ENST00000263092.6	-	8	930	c.803C>G	c.(802-804)cCc>cGc	p.P268R	METTL16_ENST00000538844.1_Missense_Mutation_p.P50R|METTL16_ENST00000571669.2_5'UTR	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN	methyltransferase like 16								methyltransferase activity			kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						CGTTACTTTGGGAACCTGAAA	0.413000													6	102					0	0	1	0	0
LRRCC1	85444	broad.mit.edu	37	8	86027790	86027790	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr8:86027790G>C	ENST00000414626.2	+	5	1730	c.841G>C	c.(841-843)Gat>Cat	p.D281H	LRRCC1_ENST00000360375.3_Missense_Mutation_p.D301H			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	301					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						TCAGAAATTAGATGACCAAAT	0.294000													12	8					0	0	1	0	0
STK17A	9263	broad.mit.edu	37	7	43664257	43664257	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr7:43664257C>A	ENST00000319357.5	+	7	1240	c.1061C>A	c.(1060-1062)tCg>tAg	p.S354*		NM_004760.2	NP_004751.2	Q9UEE5	ST17A_HUMAN	serine/threonine kinase 17a	354					apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						GAAATTAATTCGGATACCGAC	0.403000													14	63					1.3612e-06	1.39636e-06	1	1	0
SNTG2	54221	broad.mit.edu	37	2	1079216	1079216	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr2:1079216A>G	ENST00000308624.5	+	2	214	c.85A>G	c.(85-87)Att>Gtt	p.I29V	SNTG2_ENST00000407292.1_Missense_Mutation_p.I29V	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	29					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GAAAACCACTATTGCTCTGTT	0.488000													7	59					0	0	1	0	0
DPY19L3	147991	broad.mit.edu	37	19	32954836	32954836	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr19:32954836G>C	ENST00000342179.5	+	14	1722	c.1507G>C	c.(1507-1509)Gaa>Caa	p.E503Q	DPY19L3_ENST00000392250.2_Missense_Mutation_p.E503Q|DPY19L3_ENST00000586987.1_Missense_Mutation_p.E503Q|DPY19L3_ENST00000590651.1_3'UTR	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	503						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					ATGTAGCCCTGAAATATGGGA	0.438000													76	176					0	0	1	0	0
CLCN5	1184	broad.mit.edu	37	X	49851524	49851524	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chrX:49851524G>T	ENST00000376088.3	+	11	2195	c.1554G>T	c.(1552-1554)atG>atT	p.M518I	CLCN5_ENST00000376108.3_Missense_Mutation_p.M448I|CLCN5_ENST00000376091.3_Missense_Mutation_p.M518I|CLCN5_ENST00000307367.2_Missense_Mutation_p.M448I	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	448					excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					CCTTTGGCATGAAGGTGAGGA	0.488000													7	31					0.00198382	0.00199819	1	1	0
MBD2	8932	broad.mit.edu	37	18	51750449	51750449	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr18:51750449T>C	ENST00000256429.3	-	1	709	c.481A>G	c.(481-483)Aag>Gag	p.K161E	MBD2_ENST00000583046.1_Missense_Mutation_p.K161E|MBD2_ENST00000398398.2_Missense_Mutation_p.K161E	NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2	161	MBD.				transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	Hexobarbital(DB01355)	ACTTCCTCCTTCTTCCATCCG	0.687000													5	14					0	0	1	0	0
SLC26A5	375611	broad.mit.edu	37	7	103061935	103061935	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr7:103061935G>C	ENST00000306312.3	-	3	288	c.27C>G	c.(25-27)atC>atG	p.I9M	SLC26A5_ENST00000393730.1_Missense_Mutation_p.I9M|SLC26A5_ENST00000432958.2_Missense_Mutation_p.I9M|SLC26A5_ENST00000339444.6_Missense_Mutation_p.I9M|SLC26A5_ENST00000393727.1_Missense_Mutation_p.I9M|SLC26A5_ENST00000356767.4_Missense_Mutation_p.I9M|SLC26A5_ENST00000393729.1_Missense_Mutation_p.I9M|SLC26A5_ENST00000393723.1_Missense_Mutation_p.I9M|SLC26A5_ENST00000354356.4_De_novo_Start_InFrame|SLC26A5_ENST00000393735.2_Missense_Mutation_p.I9M	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	9					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						TTGCTGCAAGGATTTCATTTT	0.428000													3	65					0	0	1	0	0
NR0B1	190	broad.mit.edu	37	X	30327072	30327072	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chrX:30327072C>T	ENST00000378970.4	-	1	643	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K	NR0B1_ENST00000453287.1_Missense_Mutation_p.E137K	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	137	4 X 67 AA tandem repeats.				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	GGGTGGTCTTCACCACAAAAG	0.692000											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	34					0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87160643	87160643	+	Silent	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr7:87160643C>T	ENST00000265724.3	-	22	3069	c.2652G>A	c.(2650-2652)ctG>ctA	p.L884L	ABCB1_ENST00000543898.1_Silent_p.L820L|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	884	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TCTTATCTTTCAGTGCTTGTC	0.338000													29	105					0	0	1	0	0
PKD2	5311	broad.mit.edu	37	4	88996751	88996751	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr4:88996751C>T	ENST00000237596.2	+	15	2878	c.2812C>T	c.(2812-2814)Caa>Taa	p.Q938*	PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000502363.1_Nonsense_Mutation_p.Q356*|PKD2_ENST00000508588.1_Nonsense_Mutation_p.Q356*	NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	938	C-terminal coiled coil domain.					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		ACTAAATGGTCAACCTCGCCC	0.522000													36	103					0	0	1	0	0
ELP4	26610	broad.mit.edu	37	11	31625337	31625337	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr11:31625337G>A	ENST00000395934.2	+	5	543	c.536G>A	c.(535-537)aGa>aAa	p.R179K	ELP4_ENST00000379163.5_Missense_Mutation_p.R180K|ELP4_ENST00000350638.5_Missense_Mutation_p.R179K			Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	179					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					TCATCTTCAAGATTTGGTCAC	0.323000													5	88					0	0	1	0	0
EFCAB7	84455	broad.mit.edu	37	1	64011692	64011692	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr1:64011692C>G	ENST00000371088.4	+	7	1156	c.910C>G	c.(910-912)Cta>Gta	p.L304V		NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	304							calcium ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						CATGGTTTATCTAACAATTAA	0.343000													12	75					0	0	1	0	0
OR1L1	26737	broad.mit.edu	37	9	125424779	125424779	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr9:125424779C>G	ENST00000373686.1	+	1	935	c.935C>G	c.(934-936)cCc>cGc	p.P312R	OR1L1_ENST00000309623.1_Missense_Mutation_p.P262R			Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						TATTTTCAGCCCCTGTCCAAC	0.418000													12	201					0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146755708	146755708	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr6:146755708G>C	ENST00000361719.2	+	9	3831	c.3361G>C	c.(3361-3363)Gaa>Caa	p.E1121Q	GRM1_ENST00000282753.1_Missense_Mutation_p.E1121Q|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000392299.2_3'UTR	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1121	Asp/Glu-rich (acidic).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GAACACGGAAGAAGACGAACT	0.637000													8	84					0	0	1	0	0
ZNF621	285268	broad.mit.edu	37	3	40574039	40574039	+	Missense_Mutation	SNP	G	G	C	rs141557940	by1000genomes	TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr3:40574039G>C	ENST00000339296.5	+	5	1230	c.778G>C	c.(778-780)Gag>Cag	p.E260Q	ZNF621_ENST00000403205.2_Missense_Mutation_p.E260Q|ZNF621_ENST00000490457.1_Intron|ZNF621_ENST00000310898.1_Intron|ZNF621_ENST00000431278.1_Missense_Mutation_p.E149Q	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	260					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		ACACACGGGAGAGAAACTCTA	0.433000													10	66					0	0	1	0	0
USP3	9960	broad.mit.edu	37	15	63855159	63855159	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr15:63855159G>A	ENST00000268049.7	+	9	971	c.647G>A	c.(646-648)aGc>aAc	p.S216N	USP3_ENST00000380324.3_Missense_Mutation_p.S238N|USP3-AS1_ENST00000559357.1_RNA|USP3-AS1_ENST00000559861.1_RNA|USP3_ENST00000558285.1_Missense_Mutation_p.S221N|USP3_ENST00000536001.1_3'UTR|USP3_ENST00000539772.1_5'UTR|USP3_ENST00000540797.1_Missense_Mutation_p.S194N|USP3-AS1_ENST00000560350.1_RNA|USP3_ENST00000559711.1_Missense_Mutation_p.S149N			Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	238					DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		ACTGCATTTAGCCCAGAGTCC	0.358000													17	98					0	0	1	0	0
USP19	10869	broad.mit.edu	37	3	49154958	49154958	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr3:49154958G>A	ENST00000453664.1	-	5	836	c.518C>T	c.(517-519)tCt>tTt	p.S173F	USP19_ENST00000398898.2_Missense_Mutation_p.S111F|USP19_ENST00000398896.1_5'UTR|USP19_ENST00000398888.2_Missense_Mutation_p.S173F|USP19_ENST00000488993.1_5'UTR|USP19_ENST00000417901.1_Missense_Mutation_p.S173F|USP19_ENST00000398892.3_Missense_Mutation_p.S111F|USP19_ENST00000434032.2_Missense_Mutation_p.S173F	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	173	CS 1.				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TTTAGCACAAGAGCTTTTTAT	0.527000													10	53					0	0	1	0	0
ANKHD1	54882	broad.mit.edu	37	5	139885448	139885448	+	Silent	SNP	T	T	C			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr5:139885448T>C	ENST00000297183.6	+	18	3526	c.3402T>C	c.(3400-3402)cgT>cgC	p.R1134R	ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.R1134R|ANKHD1_ENST00000360839.2_Silent_p.R1134R	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGGACGTCAGGAGGTGT	0.333000													35	225					0	0	1	0	0
SLC13A1	6561	broad.mit.edu	37	7	122821104	122821104	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr7:122821104C>T	ENST00000194130.2	-	2	190	c.151G>A	c.(151-153)Gaa>Aaa	p.E51K	SLC13A1_ENST00000539873.1_5'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	51						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	GGCAATGCTTCTGTGAGCCAA	0.438000													5	55					0	0	1	0	0
SH3BP5	9467	broad.mit.edu	37	3	15297740	15297740	+	Silent	SNP	G	G	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr3:15297740G>A	ENST00000383791.3	-	9	1441	c.1221C>T	c.(1219-1221)agC>agT	p.S407S	SH3BP5-AS1_ENST00000420195.1_RNA|SH3BP5_ENST00000426925.1_Silent_p.S250S|SH3BP5_ENST00000408919.3_Silent_p.S250S|SH3BP5_ENST00000253688.5_Silent_p.S250S	NM_004844.4	NP_004835.2	O60239	3BP5_HUMAN	SH3-domain binding protein 5 (BTK-associated)	407	Poly-Ser.|Ser-rich.				intracellular signal transduction	mitochondrion	protein kinase inhibitor activity|SH3 domain binding			NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						cactgccactgctactgctga	0.527000													17	106					0	0	1	0	0
DOCK7	85440	broad.mit.edu	37	1	62970400	62970400	+	Silent	SNP	G	G	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr1:62970400G>A	ENST00000251157.5	-	37	4671	c.4638C>T	c.(4636-4638)ctC>ctT	p.L1546L	DOCK7_ENST00000340370.5_Silent_p.L1524L	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1555					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GGAGAAGCCTGAGGCATAAAT	0.423000													4	33					0	0	1	0	0
SERINC3	10955	broad.mit.edu	37	20	43135557	43135557	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr20:43135557C>G	ENST00000342374.4	-	6	851	c.694G>C	c.(694-696)Gat>Cat	p.D232H	SERINC3_ENST00000255175.1_Missense_Mutation_p.D232H|SERINC3_ENST00000541235.1_Missense_Mutation_p.D177H	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	232						integral to membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			GTGCAGCCATCTGGTTTGGTG	0.403000													16	65					0	0	1	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88874949	88874949	+	Silent	SNP	G	G	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr2:88874949G>A	ENST00000303236.3	-	13	2353	c.2052C>T	c.(2050-2052)ctC>ctT	p.L684L	EIF2AK3_ENST00000419748.1_Silent_p.L533L|AC104134.2_ENST00000413234.1_RNA	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	684	Protein kinase.				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding	p.L684L(1)		ovary(3)	3						TAGGAGAGCTGAGTGGCCAGT	0.408000													16	58					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10428259	10428259	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr17:10428259G>C	ENST00000245503.5	-	34	5170	c.4786C>G	c.(4786-4788)Cac>Gac	p.H1596D	MYH2_ENST00000532183.2_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.H1596D|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1596					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ATTCTAATGTGGTTTCTCTTC	0.458000													36	103					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94008943	94008943	+	Silent	SNP	G	G	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr14:94008943G>A	ENST00000553484.1	+	14	1810	c.1656G>A	c.(1654-1656)ctG>ctA	p.L552L	UNC79_ENST00000256339.4_Silent_p.L375L|UNC79_ENST00000555664.1_Silent_p.L552L|UNC79_ENST00000393151.2_Silent_p.L552L			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	552						integral to membrane		p.L375L(1)|p.L552L(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TGGAAAAGCTGAAGCCTCAGT	0.498000													14	55					0	0	1	0	0
ABCC4	10257	broad.mit.edu	37	13	95861690	95861690	+	Silent	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr13:95861690C>T	ENST00000376887.4	-	6	897	c.783G>A	c.(781-783)ctG>ctA	p.L261L	ABCC4_ENST00000431522.1_Silent_p.L261L|ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000536256.1_Silent_p.L186L|ABCC4_ENST00000412704.1_Silent_p.L261L	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	261	ABC transmembrane type-1 1.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TCTCTTACCTCAGTGATGAGA	0.398000													5	61					0	0	1	0	0
RNF138	51444	broad.mit.edu	37	18	29704794	29704794	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr18:29704794C>T	ENST00000261593.3	+	6	1005	c.547C>T	c.(547-549)Cag>Tag	p.Q183*	RNF138_ENST00000257190.5_Nonsense_Mutation_p.Q89*	NM_001191324.1|NM_016271.4	NP_001178253.2|NP_057355.2	Q8WVD3	RN138_HUMAN	ring finger protein 138, E3 ubiquitin protein ligase	183					Wnt receptor signaling pathway	intracellular	ligase activity|protein kinase binding|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						TCACCTATTTCAGATAGTTCC	0.363000													13	67					0	0	1	0	0
HNRNPL	3191	broad.mit.edu	37	19	39329054	39329054	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr19:39329054C>G	ENST00000221419.5	-	10	1906	c.1540G>C	c.(1540-1542)Gag>Cag	p.E514Q	HNRNPL_ENST00000600873.1_Missense_Mutation_p.E381Q|AC104534.3_ENST00000594769.1_Silent_p.P130P	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	514					nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			AAGTTCTCCTCGGTCACCTCC	0.592000													7	25					0	0	1	0	0
SPDL1	54908	broad.mit.edu	37	5	169028406	169028406	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr5:169028406C>G	ENST00000265295.4	+	11	1726	c.1447C>G	c.(1447-1449)Cag>Gag	p.Q483E		NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1																		ATTACCGCCTCAGAAAGAGGA	0.448000													10	46					0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72191031	72191031	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr15:72191031C>G	ENST00000356056.5	-	25	4285	c.3813G>C	c.(3811-3813)aaG>aaC	p.K1271N	MYO9A_ENST00000564571.1_Missense_Mutation_p.K1271N|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.K1271N|MYO9A_ENST00000566885.1_Missense_Mutation_p.K891N|MYO9A_ENST00000444904.1_Missense_Mutation_p.K1252N	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1271	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TACTTTCTCTCTTAGCCCGGC	0.458000													23	94					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39424199	39424199	+	Missense_Mutation	SNP	G	G	A	rs149325030		TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr13:39424199G>A	ENST00000280481.7	+	9	6620	c.6404G>A	c.(6403-6405)cGa>cAa	p.R2135Q	FREM2_ENST00000482551.1_3'UTR	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2135	Calx-beta 4.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.R2135Q(1)		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)		TTCAAAGAACGAATATATACT	0.413000													15	52					0	0	1	0	0
KCNC4	3749	broad.mit.edu	37	1	110754601	110754601	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr1:110754601C>G	ENST00000369787.3	+	1	507	c.480C>G	c.(478-480)atC>atG	p.I160M	KCNC4_ENST00000438661.2_Missense_Mutation_p.I160M|KCNC4_ENST00000413138.3_Missense_Mutation_p.I160M	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	160					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		CGCTCGACATCTTCGAGAGCC	0.716000													4	11					0	0	1	0	0
YY1AP1	55249	broad.mit.edu	37	1	155638472	155638472	+	Silent	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr1:155638472C>T	ENST00000368340.5	-	8	1287	c.1179G>A	c.(1177-1179)ctG>ctA	p.L393L	YY1AP1_ENST00000355499.4_Silent_p.L275L|YY1AP1_ENST00000361831.5_Silent_p.L264L|YY1AP1_ENST00000347088.5_Silent_p.L275L|YY1AP1_ENST00000311573.5_Silent_p.L244L|YY1AP1_ENST00000404643.1_Silent_p.L255L|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000535662.1_Silent_p.L121L|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000407221.1_Silent_p.L244L|YY1AP1_ENST00000295566.4_Silent_p.L321L|YY1AP1_ENST00000368330.2_Silent_p.L275L|YY1AP1_ENST00000405763.3_Silent_p.L413L|YY1AP1_ENST00000368339.5_Silent_p.L413L|YY1AP1_ENST00000359205.5_Silent_p.L264L	NM_001198904.1	NP_001185833.1			YY1 associated protein 1											central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TTCTCACTGTCAGTTGGCGGG	0.443000													15	84					0	0	1	0	0
OR5D16	390144	broad.mit.edu	37	11	55606419	55606419	+	Silent	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr11:55606419C>T	ENST00000378396.1	+	1	192	c.192C>T	c.(190-192)ttC>ttT	p.F64F		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TGTATTTTTTCCTCAACCACC	0.423000													24	137					0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87026019	87026019	+	Missense_Mutation	SNP	A	A	C			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr1:87026019A>C	ENST00000370563.3	+	3	468	c.426A>C	c.(424-426)aaA>aaC	p.K142N	CLCA4_ENST00000263723.5_5'UTR	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	142						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		TTGGAAAAAAACAAAATGAAT	0.398000													4	66					0	0	1	0	0
PRKACA	5566	broad.mit.edu	37	19	14204512	14204512	+	Silent	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr19:14204512C>T	ENST00000308677.4	-	9	1054	c.858G>A	c.(856-858)aaG>aaA	p.K286K	PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000589994.1_Silent_p.K278K|PRKACA_ENST00000590853.1_Intron	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	286	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						TGACCCCATTCTTGAGGTTCC	0.547000													12	93					0	0	1	0	0
UTP15	84135	broad.mit.edu	37	5	72865329	72865329	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr5:72865329C>T	ENST00000296792.4	+	5	631	c.376C>T	c.(376-378)Cat>Tat	p.H126Y	UTP15_ENST00000508491.1_Missense_Mutation_p.H107Y|UTP15_ENST00000543251.1_5'UTR	NM_001284431.1|NM_032175.2	NP_001271360.1|NP_115551.2	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)	126					rRNA processing	cytoplasm|nucleolus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		CAGAGCAGTTCATACAGTAGA	0.313000													9	33					0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87160653	87160653	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr7:87160653C>A	ENST00000265724.3	-	22	3059	c.2642G>T	c.(2641-2643)gGa>gTa	p.G881V	ABCB1_ENST00000543898.1_Missense_Mutation_p.G817V|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	881	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CAGTGCTTGTCCAGACAACAT	0.343000													26	103					1.06801e-11	1.10786e-11	1	1	0
TRPA1	8989	broad.mit.edu	37	8	72967993	72967993	+	Missense_Mutation	SNP	T	T	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr8:72967993T>A	ENST00000262209.4	-	11	1499	c.1292A>T	c.(1291-1293)aAc>aTc	p.N431I	RP11-383H13.1_ENST00000457356.4_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	431						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GCCAAGTAGGTTATTTACAGA	0.428000													14	28					0	0	1	0	0
OPN4	94233	broad.mit.edu	37	10	88414588	88414588	+	Silent	SNP	G	G	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr10:88414588G>A	ENST00000372071.2	+	1	275	c.48G>A	c.(46-48)gaG>gaA	p.E16E	OPN4_ENST00000241891.5_Silent_p.E16E	NM_001030015.2	NP_001025186.1	Q9UHM6	OPN4_HUMAN	opsin 4	16					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						CAACCCAAGAGCCCAGCTGCA	0.637000													5	41					0	0	1	0	0
C14orf37	145407	broad.mit.edu	37	14	58471826	58471826	+	Silent	SNP	G	G	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr14:58471826G>A	ENST00000267485.7	-	7	2390	c.2196C>T	c.(2194-2196)ctC>ctT	p.L732L		NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	732						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						TAATGCTGTAGAGGGCTCCCA	0.448000													4	61					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71892340	71892340	+	Silent	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr2:71892340C>T	ENST00000258104.3	+	46	5383	c.5106C>T	c.(5104-5106)ctC>ctT	p.L1702L	DYSF_ENST00000394120.2_Silent_p.L1703L|DYSF_ENST00000409651.1_Silent_p.L1734L|DYSF_ENST00000409744.1_Silent_p.L1710L|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000413539.2_Silent_p.L1733L|DYSF_ENST00000429174.2_Silent_p.L1723L|DYSF_ENST00000409762.1_Silent_p.L1719L|DYSF_ENST00000410041.1_Silent_p.L1720L|DYSF_ENST00000410020.3_Silent_p.L1741L|DYSF_ENST00000409582.3_Silent_p.L1740L|DYSF_ENST00000409366.1_Silent_p.L1724L	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1702						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CCCAGCTCCTCCACCTCTTCT	0.532000													28	68					0	0	1	0	0
STRN3	29966	broad.mit.edu	37	14	31405713	31405713	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr14:31405713C>T	ENST00000355683.5	-	6	1049	c.834G>A	c.(832-834)atG>atA	p.M278I	STRN3_ENST00000357479.5_Missense_Mutation_p.M278I	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	278					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		TATGTTTATTCATCCGATGTT	0.323000													6	40					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131343206	131343206	+	Silent	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr9:131343206C>T	ENST00000372739.3	+	11	1439	c.1329C>T	c.(1327-1329)acC>acT	p.T443T	SPTAN1_ENST00000358161.5_Silent_p.T443T|SPTAN1_ENST00000372731.4_Silent_p.T443T	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	443					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CCAAGCTGACCGTCCTTTCCG	0.597000													6	52					0	0	1	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58565117	58565117	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr19:58565117G>A	ENST00000282326.1	+	6	1172	c.925G>A	c.(925-927)Gag>Aag	p.E309K		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	309					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E309K(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCACTTCATCGAGCACCAGAA	0.627000													17	38					0	0	1	0	0
NOL8	55035	broad.mit.edu	37	9	95077805	95077805	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr9:95077805C>T	ENST00000545558.1	-	7	1594	c.1102G>A	c.(1102-1104)Gat>Aat	p.D368N	NOL8_ENST00000358855.4_Missense_Mutation_p.D300N|NOL8_ENST00000535387.1_Missense_Mutation_p.D368N|NOL8_ENST00000442668.2_Missense_Mutation_p.D368N|NOL8_ENST00000542053.1_Missense_Mutation_p.D300N			Q76FK4	NOL8_HUMAN	nucleolar protein 8	368					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						CTCATAATATCATCATCACTA	0.338000													3	25					0	0	1	0	0
ITGA11	22801	broad.mit.edu	37	15	68606139	68606139	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr15:68606139C>T	ENST00000423218.2	-	23	2955	c.2860G>A	c.(2860-2862)Gag>Aag	p.E954K	ITGA11_ENST00000315757.7_Missense_Mutation_p.E954K			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	954					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	ACGTCAGCCTCGTATTTGAGG	0.637000													3	8					0	0	1	0	0
TEX30	93081	broad.mit.edu	37	13	103418900	103418900	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr13:103418900G>A	ENST00000376019.1	-	4	1248	c.412C>T	c.(412-414)Caa>Taa	p.Q138*	TEX30_ENST00000376032.4_Nonsense_Mutation_p.Q179*|TEX30_ENST00000376029.3_Missense_Mutation_p.A110V|TEX30_ENST00000376022.1_Missense_Mutation_p.A69V|TEX30_ENST00000376021.4_Nonsense_Mutation_p.Q138*|TEX30_ENST00000376027.1_Missense_Mutation_p.A110V			Q5JUR7	CM027_HUMAN	testis expressed 30	179										lung(1)|urinary_tract(1)	2						TGGGGAGCTTGCATTTTCTGT	0.378000													4	63					0	0	1	0	0
FMO3	2328	broad.mit.edu	37	1	171076826	171076826	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr1:171076826C>T	ENST00000367755.4	+	4	443	c.332C>T	c.(331-333)tCc>tTc	p.S111F	FMO3_ENST00000392085.2_Missense_Mutation_p.S111F|FMO3_ENST00000542847.1_Missense_Mutation_p.S91F|FMO3_ENST00000538429.1_Missense_Mutation_p.S48F	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	111					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ACATTTGTATCCAGTGTAAAT	0.368000													16	49					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41526063	41526063	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr8:41526063C>G	ENST00000396942.1	-	39	5199	c.5116G>C	c.(5116-5118)Gac>Cac	p.D1706H	ANK1_ENST00000347528.4_Missense_Mutation_p.D1706H|ANK1_ENST00000379758.2_Missense_Mutation_p.D1706H|ANK1_ENST00000396945.1_Missense_Mutation_p.D1706H|ANK1_ENST00000289734.7_Missense_Mutation_p.D1706H|ANK1_ENST00000265709.8_Missense_Mutation_p.D1747H|ANK1_ENST00000352337.4_Missense_Mutation_p.D1706H			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1706	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			ATCGAGCCGTCTGCATCCCAG	0.547000													10	26					0	0	1	0	0
MECR	51102	broad.mit.edu	37	1	29528531	29528531	+	Missense_Mutation	SNP	C	C	T	rs11544658	byFrequency	TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr1:29528531C>T	ENST00000373791.3	-	6	824	c.452G>A	c.(451-453)aGa>aAa	p.R151K	MECR_ENST00000263702.6_Missense_Mutation_p.R227K	NM_001024732.1|NM_016011.2	NP_001019903|NP_057095.3	Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	227					fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		ACTCTTCAGTCTGTCACTCAG	0.507000													54	205					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18064712	18064712	+	Silent	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr17:18064712C>T	ENST00000205890.5	+	57	9806	c.9468C>T	c.(9466-9468)ctC>ctT	p.L3156L	MYO15A_ENST00000451725.2_Silent_p.L48L|MYO15A_ENST00000418233.3_Silent_p.L420L	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3156	MyTH4 2.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					ACCCACACCTCACTCGCTTCC	0.627000													26	66					0	0	1	0	0
KRT14	3861	broad.mit.edu	37	17	39742778	39742778	+	Silent	SNP	G	G	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr17:39742778G>T	ENST00000167586.6	-	1	395	c.309C>A	c.(307-309)ggC>ggA	p.G103G		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	103	Head.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				caccagcaaagccaccaccaa	0.607000													23	42					2.44723e-14	2.56728e-14	1	1	0
NOP58	51602	broad.mit.edu	37	2	203147169	203147169	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr2:203147169G>A	ENST00000264279.5	+	4	497	c.271G>A	c.(271-273)Gat>Aat	p.D91N	NOP58_ENST00000467734.1_3'UTR	NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	91					cell growth|rRNA processing|snRNP protein import into nucleus	box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex	protein binding|snoRNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						GGCAGTAGCTGATGCTAAACT	0.423000													10	52					0	0	1	0	0
PIK3R4	30849	broad.mit.edu	37	3	130452578	130452578	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr3:130452578G>A	ENST00000356763.3	-	4	1821	c.1264C>T	c.(1264-1266)Ctt>Ttt	p.L422F		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	422					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						AAATGCAAAAGATATGGAGTA	0.418000													42	115					0	0	1	0	0
TRIP10	9322	broad.mit.edu	37	19	6751082	6751082	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr19:6751082G>A	ENST00000600428.1	+	14	1820	c.1174G>A	c.(1174-1176)Gag>Aag	p.E392K	TRIP10_ENST00000596758.1_Silent_p.A509A|TRIP10_ENST00000313285.8_Missense_Mutation_p.E500K|TRIP10_ENST00000313244.9_Missense_Mutation_p.E556K|CTD-3128G10.6_ENST00000594056.1_RNA			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	556	Interaction with CDC42.|Interaction with PDE6G (By similarity).				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						AGGGTCCAGCGAGGGCACTAT	0.542000													6	46					0	0	1	0	0
MCM4	4173	broad.mit.edu	37	8	48887453	48887453	+	Missense_Mutation	SNP	C	C	T	rs149597772		TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr8:48887453C>T	ENST00000262105.2	+	14	2505	c.2296C>T	c.(2296-2298)Cgg>Tgg	p.R766W	MCM4_ENST00000523944.1_Missense_Mutation_p.R766W	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	766					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				ACGCCTCCATCGGGAAGCTCT	0.453000													32	89					0	0	1	0	0
DPY19L1	23333	broad.mit.edu	37	7	35050977	35050977	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr7:35050977C>G	ENST00000310974.4	-	5	560	c.416G>C	c.(415-417)aGa>aCa	p.R139T		NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	139						integral to membrane				endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						TCCTTCTCCTCTGGTAACCGT	0.333000													8	57					0	0	1	0	0
VWA8	23078	broad.mit.edu	37	13	42390853	42390853	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr13:42390853C>G	ENST00000379310.3	-	16	1996	c.1928G>C	c.(1927-1929)aGa>aCa	p.R643T	VWA8_ENST00000281496.6_Missense_Mutation_p.R643T	NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		CTGTGTTTCTCTGAGTTTGTG	0.358000													13	132					0	0	1	0	0
C11orf71	54494	broad.mit.edu	37	11	114270894	114270894	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr11:114270894G>A	ENST00000325636.4	-	1	245	c.160C>T	c.(160-162)Cgg>Tgg	p.R54W	RBM7_ENST00000540163.1_5'UTR	NM_019021.3	NP_061894.2	Q6IPW1	CK071_HUMAN	chromosome 11 open reading frame 71	54										large_intestine(3)|lung(1)	4		all_cancers(61;1.15e-11)|all_epithelial(67;5.3e-06)|all_hematologic(158;0.000303)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.6e-06)|Epithelial(105;4.31e-05)|all cancers(92;0.00036)		ACCGCCTGCCGAGGTCCTAGA	0.682000													4	12					0	0	1	0	0
CWC27	10283	broad.mit.edu	37	5	64079685	64079685	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr5:64079685G>A	ENST00000508024.1	+	4	476	c.275G>A	c.(274-276)cGt>cAt	p.R92H	CWC27_ENST00000381070.3_Missense_Mutation_p.R92H			Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	92	PPIase cyclophilin-type.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						TCACGGTTGCGTTTTAATCGG	0.408000													26	181					0	0	1	0	0
MAP10	54627	broad.mit.edu	37	1	232941880	232941880	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr1:232941880G>A	ENST00000418460.1	+	1	1238	c.1111G>A	c.(1111-1113)Gag>Aag	p.E371K		NM_019090.2	NP_061963.2			microtubule-associated protein 10																		AAGCCCAAAAGAGGCTGATAA	0.542000													21	145					0	0	1	0	0
ALPI	248	broad.mit.edu	37	2	233321091	233321091	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr2:233321091C>G	ENST00000295463.3	+	2	177	c.100C>G	c.(100-102)Cag>Gag	p.Q34E		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	34					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CTGGAACCGCCAGGCAGCTGA	0.627000													9	47					0	0	1	0	0
RP1-241P17.4	0	broad.mit.edu	37	X	114953273	114953273	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chrX:114953273C>T	ENST00000449327.1	-	1	396	c.277G>A	c.(277-279)Ggt>Agt	p.G93S																								CAGTAGACACCTCCCGTCTGC	0.423000													6	34					0	0	1	0	0
C10orf76	79591	broad.mit.edu	37	10	103609556	103609556	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr10:103609556C>T	ENST00000370033.4	-	25	2073	c.1954G>A	c.(1954-1956)Gaa>Aaa	p.E652K	C10orf76_ENST00000495001.1_5'UTR	NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	652						integral to membrane				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		AAGGCAGCTTCCTTGTGCTGC	0.592000													11	66					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32752544	32752544	+	Silent	SNP	C	C	G			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr13:32752544C>G	ENST00000380250.3	+	21	3148	c.2652C>G	c.(2650-2652)ctC>ctG	p.L884L		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	884					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TCACTCGGCTCCAGTCGGTGA	0.522000													4	168					0	0	1	0	0
NDUFB11	54539	broad.mit.edu	37	X	47004013	47004013	+	Silent	SNP	G	G	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chrX:47004013G>A	ENST00000377811.3	-	1	890	c.66C>T	c.(64-66)ctC>ctT	p.L22L	NDUFB11_ENST00000276062.8_Silent_p.L22L	NM_001135998.2	NP_001129470.1	Q9NX14	NDUBB_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa	22					respiratory electron transport chain|transport	integral to membrane|mitochondrial respiratory chain complex I				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7						GGGCGGCCGGGAGCCCTCGCG	0.697000											OREG0019755	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	9					0	0	1	0	0
FBXL13	222235	broad.mit.edu	37	7	102604026	102604026	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr7:102604026C>G	ENST00000393772.2	-	8	1104	c.678G>C	c.(676-678)ttG>ttC	p.L226F	FBXL13_ENST00000379308.3_Missense_Mutation_p.L226F|FBXL13_ENST00000379306.3_Missense_Mutation_p.L226F|FBXL13_ENST00000436908.1_Missense_Mutation_p.L226F|FBXL13_ENST00000455112.2_Missense_Mutation_p.L226F|FBXL13_ENST00000471074.1_5'UTR|FBXL13_ENST00000379305.3_Missense_Mutation_p.L226F|FBXL13_ENST00000313221.4_Missense_Mutation_p.L226F|FBXL13_ENST00000456695.1_Missense_Mutation_p.L226F			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	226										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						CACGAAAATTCAAACGCAGCA	0.328000													13	57					0	0	1	0	0
TAF2	6873	broad.mit.edu	37	8	120756538	120756538	+	Silent	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr8:120756538C>T	ENST00000378164.2	-	24	3502	c.3204G>A	c.(3202-3204)ccG>ccA	p.P1068P		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	1068					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CTGGAGTTGACGGCCTTTCAA	0.373000													45	65					0	0	1	0	0
SEC24A	10802	broad.mit.edu	37	5	134002573	134002573	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr5:134002573C>T	ENST00000398844.2	+	3	914	c.626C>T	c.(625-627)cCt>cTt	p.P209L	SEC24A_ENST00000322887.4_Missense_Mutation_p.P209L	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	209	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCAGGAGCTCCTCATGGGCCC	0.522000													14	67					0	0	1	0	0
SLC5A4	6527	broad.mit.edu	37	22	32651314	32651314	+	Translation_Start_Site	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr22:32651314C>T	ENST00000266086.4	-	1	14	c.3G>A	c.(1-3)atG>atA	p.M1I	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	1					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CCGTACTGGCCATGGCTGCAG	0.522000											OREG0003502	type=REGULATORY REGION|Gene=SLC5A4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	21	156					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100373015	100373015	+	RNA	SNP	A	A	G			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr7:100373015A>G	ENST00000542585.1	+	0	5990				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TAACCATTCTATCCCGGACGC	0.572000													6	16					0	0	1	0	0
PPM1B	5495	broad.mit.edu	37	2	44429085	44429085	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr2:44429085G>A	ENST00000378551.2	+	2	1159	c.747G>A	c.(745-747)atG>atA	p.M249I	PPM1B_ENST00000378540.4_3'UTR|PPM1B_ENST00000409895.4_Missense_Mutation_p.M249I|PPM1B_ENST00000345249.4_Intron|PPM1B_ENST00000409432.3_Missense_Mutation_p.M249I|PPM1B_ENST00000282412.4_Missense_Mutation_p.M249I	NM_177968.2	NP_808907.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B	249					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GGGATGTTATGAGTAATGAGG	0.403000													9	52					0	0	1	0	0
FOXK1	221937	broad.mit.edu	37	7	4800834	4800834	+	Silent	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr7:4800834C>T	ENST00000328914.4	+	8	1836	c.1836C>T	c.(1834-1836)ctC>ctT	p.L612L	FOXK1_ENST00000446823.1_Silent_p.L449L	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN	forkhead box K1	612					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.L612L(1)|p.L590L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		CCGTGACCCTCGGGCAGCACC	0.687000													5	18					0	0	1	0	0
MPP1	4354	broad.mit.edu	37	X	154010078	154010078	+	Splice_Site	SNP	C	C	G			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chrX:154010078C>G	ENST00000413259.3	-	11	1249		c.e11-1		MPP1_ENST00000393531.1_Splice_Site|MPP1_ENST00000369534.3_Splice_Site	NM_001166462.1	NP_001159934.1	Q00013	EM55_HUMAN	membrane protein, palmitoylated 1, 55kDa						regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CGTGTTGTATCTGTGTACAAG	0.507000													6	118					0	0	1	0	0
CA8	767	broad.mit.edu	37	8	61139440	61139440	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr8:61139440G>T	ENST00000317995.4	-	5	832	c.568C>A	c.(568-570)Cag>Aag	p.Q190K	CA8_ENST00000528666.1_5'UTR	NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	190					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)				ACCTTATACTGAATATCTTGG	0.393000													5	24					0.0215528	0.0215528	1	1	0
FCGR1A	2209	broad.mit.edu	37	1	149760120	149760120	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr1:149760120C>G	ENST00000369168.4	+	4	560	c.506C>G	c.(505-507)tCa>tGa	p.S169*	RP11-196G18.3_ENST00000428289.1_RNA|HIST2H2BF_ENST00000545683.1_Intron|RP11-196G18.21_ENST00000420462.1_RNA	NM_000566.3	NP_000557.1	P12314	FCGR1_HUMAN	Fc fragment of IgG, high affinity Ia, receptor (CD64)	169	Ig-like C2-type 2.				interferon-gamma-mediated signaling pathway|phagocytosis, engulfment	integral to membrane|plasma membrane	IgG binding|receptor activity|receptor signaling protein activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10	Breast(34;0.0124)|all_hematologic(923;0.127)				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TACCATTGCTCAGGCATGGGA	0.428000													12	91					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47841940	47841940	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr21:47841940C>G	ENST00000359568.5	+	32	7188	c.7081C>G	c.(7081-7083)Caa>Gaa	p.Q2361E	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2361			Q -> R (in dbSNP:rs7277175).		cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CCCTGAGGCTCAAACTGCTGG	0.602000													8	47					0	0	1	0	0
SYN3	8224	broad.mit.edu	37	22	33376633	33376633	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr22:33376633C>A	ENST00000358763.2	-	3	608	c.366G>T	c.(364-366)gaG>gaT	p.E122D	SYN3_ENST00000332840.5_Missense_Mutation_p.E122D	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	122	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CACCTACCTGCTCCACTCGGA	0.478000													25	188					2.24059e-21	2.37742e-21	1	1	0
HEATR4	399671	broad.mit.edu	37	14	73989210	73989210	+	Missense_Mutation	SNP	C	C	T	rs139615409		TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr14:73989210C>T	ENST00000553558.1	-	3	968	c.647G>A	c.(646-648)cGa>cAa	p.R216Q	HEATR4_ENST00000560393.1_Missense_Mutation_p.R169Q|HEATR4_ENST00000334988.2_Missense_Mutation_p.R216Q	NM_001220484.1	NP_001207413.1			HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		CTGGATCCATCGGGCTGTGCG	0.607000													4	19					0	0	1	0	0
CYP2U1	113612	broad.mit.edu	37	4	108866330	108866330	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr4:108866330T>C	ENST00000332884.6	+	2	970	c.695T>C	c.(694-696)aTt>aCt	p.I232T	RP11-286E11.1_ENST00000513071.1_RNA|CYP2U1_ENST00000508453.1_Missense_Mutation_p.I23T	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U, polypeptide 1	232					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		TCTAACATCATTTGCTCCTTG	0.423000													4	102					0	0	1	0	0
KIAA1324	57535	broad.mit.edu	37	1	109704542	109704542	+	Silent	SNP	G	G	A	rs77326388	byFrequency	TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr1:109704542G>A	ENST00000369939.3	+	2	363	c.180G>A	c.(178-180)gcG>gcA	p.A60A	KIAA1324_ENST00000529753.1_Silent_p.A60A	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	60					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		AGTACACGGCGTGTGACAGCA	0.592000													4	61					0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146755088	146755088	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr6:146755088C>T	ENST00000361719.2	+	9	3211	c.2741C>T	c.(2740-2742)tCt>tTt	p.S914F	GRM1_ENST00000282753.1_Missense_Mutation_p.S914F|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000355289.4_Silent_p.L902L|GRM1_ENST00000392299.2_3'UTR	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	914					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CACCGCCTCTCTGTGCACGTG	0.507000													4	59					0	0	1	0	0
RERG	85004	broad.mit.edu	37	12	15262277	15262277	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr12:15262277C>T	ENST00000256953.2	-	5	703	c.367G>A	c.(367-369)Gac>Aac	p.D123N	RERG_ENST00000546331.1_Missense_Mutation_p.D104N|RERG_ENST00000538313.1_Missense_Mutation_p.D123N|RERG_ENST00000536465.1_Missense_Mutation_p.D123N	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	123					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						CTGGAGTGGTCCAAGTCAGCT	0.473000													27	151					0	0	1	0	0
GPATCH2	55105	broad.mit.edu	37	1	217793807	217793807	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr1:217793807C>T	ENST00000366935.3	-	2	201	c.91G>A	c.(91-93)Gac>Aac	p.D31N	GPATCH2_ENST00000366934.3_Missense_Mutation_p.D31N	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	31						intracellular	nucleic acid binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		GAGACAAGGTCATGAACCAGC	0.418000													4	100					0	0	1	0	0
ARHGEF26	26084	broad.mit.edu	37	3	153909150	153909150	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr3:153909150G>A	ENST00000356448.4	+	8	1997	c.1713G>A	c.(1711-1713)atG>atA	p.M571I	ARHGEF26_ENST00000465093.1_Missense_Mutation_p.M571I|ARHGEF26_ENST00000465817.1_Intron	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	571	DH.				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						ACTTACCCATGATCTCTTTTC	0.463000													3	38					0	0	1	0	0
ASAP1	50807	broad.mit.edu	37	8	131172136	131172136	+	Silent	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr8:131172136C>T	ENST00000357668.1	-	11	1011	c.984G>A	c.(982-984)aaG>aaA	p.K328K	ASAP1_ENST00000518721.1_Silent_p.K328K			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	328	PH.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						GCAGGTACCCCTTCTTTTCAC	0.443000													50	127					0	0	1	0	0
GNL1	2794	broad.mit.edu	37	6	30520354	30520354	+	Missense_Mutation	SNP	T	T	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr6:30520354T>A	ENST00000376621.3	-	8	1959	c.989A>T	c.(988-990)gAg>gTg	p.E330V		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	330					response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						GCCATCCTCCTCTTCCTCCTC	0.602000													5	65					0	0	1	0	0
HMGN5	79366	broad.mit.edu	37	X	80373935	80373935	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chrX:80373935G>A	ENST00000358130.2	-	5	453	c.125C>T	c.(124-126)tCa>tTa	p.S42L	HMGN5_ENST00000491275.1_5'UTR	NM_030763.2	NP_110390.1	P82970	HMGN5_HUMAN	high mobility group nucleosome binding domain 5	42					chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|nucleolus	chromatin binding|DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	10						ATTTACCCTTGAACTTGATGT	0.299000													9	39					0	0	1	0	0
ATXN10	25814	broad.mit.edu	37	22	46125304	46125304	+	Splice_Site	SNP	G	G	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr22:46125304G>A	ENST00000252934.5	+	7	993		c.e7-1		ATXN10_ENST00000381061.4_Splice_Site	NM_013236.3	NP_037368.1	Q9UBB4	ATX10_HUMAN	ataxin 10						cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		ATGTTTTACAGAGTTACACTG	0.343000													24	65					0	0	1	0	0
PRDX4	10549	broad.mit.edu	37	X	23701817	23701817	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chrX:23701817G>A	ENST00000379341.4	+	6	885	c.760G>A	c.(760-762)Gaa>Aaa	p.E254K		NM_006406.1	NP_006397.1	Q13162	PRDX4_HUMAN	peroxiredoxin 4	254					cell redox homeostasis|I-kappaB phosphorylation		thioredoxin peroxidase activity			lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						ACCTGGTAGTGAAACAGTAAG	0.403000													29	314					0	0	1	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73205249	73205249	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr4:73205249C>G	ENST00000286657.4	-	5	859	c.823G>C	c.(823-825)Gag>Cag	p.E275Q		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	275	Peptidase M12B.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGGACGTGCTCTTTGCCATGG	0.433000													65	398					0	0	1	0	0
PTGES3L-AARSD1	100885850	broad.mit.edu	37	17	41108502	41108502	+	Silent	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr17:41108502C>T	ENST00000421990.2	-	10	1332	c.987G>A	c.(985-987)gaG>gaA	p.E329E	PTGES3L-AARSD1_ENST00000360221.4_Silent_p.E268E|AARSD1_ENST00000427569.2_Silent_p.E155E|AARSD1_ENST00000416949.1_5'UTR|PTGES3L-AARSD1_ENST00000409103.1_Silent_p.E238E|PTGES3L-AARSD1_ENST00000409399.1_Silent_p.E329E	NM_001136042.2	NP_001129514.2																					TGACGCTCTGCTCAATGGCAG	0.532000													17	29					0	0	1	0	0
PSMB5	5693	broad.mit.edu	37	14	23495374	23495374	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr14:23495374C>T	ENST00000361611.6	-	3	979	c.716G>A	c.(715-717)cGg>cAg	p.R239Q	PSMB5_ENST00000460922.2_3'UTR|PSMB5_ENST00000425762.2_Missense_Mutation_p.R136Q|PSMB5_ENST00000493471.2_3'UTR	NM_002797.3	NP_002788.1	P28074	PSB5_HUMAN	proteasome (prosome, macropain) subunit, beta type, 5	239					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus	protein binding|threonine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0121)	Bortezomib(DB00188)	GCCATCCTCCCGCACGTGGTA	0.557000													4	94					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63950767	63950767	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr15:63950767C>T	ENST00000443617.2	-	48	9662	c.9575G>A	c.(9574-9576)aGa>aAa	p.R3192K		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3192					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AGACAGCGCTCTCATGACCAT	0.493000													8	26					0	0	1	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803672	142803672	+	RNA	SNP	G	G	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr1:142803672G>T	ENST00000423385.1	-	0	1293																											tatgttctatgcatttatcat	0.308000													3	43					0.014758	0.0148113	1	1	0
TMEM104	54868	broad.mit.edu	37	17	72787094	72787094	+	Splice_Site	SNP	G	G	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr17:72787094G>A	ENST00000335464.5	+	6	508		c.e6-1		TMEM104_ENST00000582773.1_Splice_Site|TMEM104_ENST00000582330.1_Splice_Site|TMEM104_ENST00000417024.2_Splice_Site	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104							integral to membrane				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					TGGCTCTGCAGAGAGACGTGG	0.483000													7	36					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140938263	140938263	+	Silent	SNP	G	G	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr9:140938263G>A	ENST00000277549.5	+	21	3469	c.900G>A	c.(898-900)aaG>aaA	p.K300K	CACNA1B_ENST00000371355.4_Silent_p.K1109K|CACNA1B_ENST00000371357.1_Silent_p.K1109K|CACNA1B_ENST00000277551.2_Silent_p.K1108K|CACNA1B_ENST00000371372.1_Silent_p.K1108K|CACNA1B_ENST00000545473.1_Silent_p.K134K|CACNA1B_ENST00000371363.1_Silent_p.K1108K			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1108					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CAGAGGGGAAGAAGGAGGTGG	0.587000													22	85					0	0	1	0	0
RPL17-C18orf32	100526842	broad.mit.edu	37	18	47015893	47015893	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr18:47015893C>G	ENST00000584895.1	-	5	357	c.343G>C	c.(343-345)Gag>Cag	p.E115Q	RPL17_ENST00000580210.1_Missense_Mutation_p.E105Q|RPL17_ENST00000579248.1_Missense_Mutation_p.E115Q|RPL17_ENST00000580261.1_Missense_Mutation_p.E115Q|MIR1539_ENST00000581232.1_RNA|RPL17_ENST00000581373.1_Missense_Mutation_p.E77Q|RPL17-C18orf32_ENST00000332968.6_Missense_Mutation_p.E77Q|RPL17_ENST00000581091.1_5'UTR|RPL17_ENST00000418495.1_Missense_Mutation_p.E115Q|RPL17_ENST00000579408.1_Missense_Mutation_p.E115Q	NM_001199355.1|NM_001199356.1	NP_001186284.1|NP_001186285.1																					TGGATATGCTCAATGACCAGA	0.448000													7	45					0	0	1	0	0
RTN4RL1	146760	broad.mit.edu	37	17	1840117	1840117	+	Silent	SNP	G	G	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr17:1840117G>A	ENST00000331238.6	-	2	1478	c.999C>T	c.(997-999)caC>caT	p.H333H		NM_178568.2	NP_848663.1	Q86UN2	R4RL1_HUMAN	reticulon 4 receptor-like 1						axon regeneration	anchored to plasma membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						TGGTGGGGCCGTGGGGTGAGT	0.672000													5	12					0	0	1	0	0
PPP2R3B	28227	broad.mit.edu	37	X	299630	299630	+	Splice_Site	SNP	C	C	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chrX:299630C>A	ENST00000390665.3	-	11	1371	c.1353G>T	c.(1351-1353)ggG>ggT	p.G451G		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	451					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCGTGATCTTCCCTGCGGGGA	0.622000													12	68					0.000308642	0.000312009	1	1	0
CHRNB2	1141	broad.mit.edu	37	1	154544322	154544322	+	Silent	SNP	G	G	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr1:154544322G>A	ENST00000368476.3	+	5	1287	c.1023G>A	c.(1021-1023)gaG>gaA	p.E341E		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	341					B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	TCTTCCTGGAGAAGCTGCCCG	0.682000													3	10					0	0	1	0	0
ATP2A2	488	broad.mit.edu	37	12	110777385	110777385	+	Silent	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr12:110777385C>T	ENST00000395494.2	+	12	2102	c.1539C>T	c.(1537-1539)gtC>gtT	p.V513V	ATP2A2_ENST00000539276.2_Silent_p.V540V|ATP2A2_ENST00000308664.6_Silent_p.V540V			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	540					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						CCTCTGGAGTCAAACAGAAGA	0.502000													3	18					0	0	1	0	0
NNT	23530	broad.mit.edu	37	5	43628486	43628486	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr5:43628486C>T	ENST00000264663.5	+	7	1182	c.961C>T	c.(961-963)Cca>Tca	p.P321S	NNT_ENST00000344920.4_Missense_Mutation_p.P321S|NNT_ENST00000512996.2_Missense_Mutation_p.P190S	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	321					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)	AGCACTTATTCCAGGTATGCC	0.328000													5	121					0	0	1	0	0
VMP1	81671	broad.mit.edu	37	17	57917142	57917142	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr17:57917142T>C	ENST00000262291.4	+	12	1401	c.1091T>C	c.(1090-1092)tTg>tCg	p.L364S	VMP1_ENST00000539763.1_Missense_Mutation_p.L172S|VMP1_ENST00000536180.1_Missense_Mutation_p.L267S|VMP1_ENST00000537567.1_Missense_Mutation_p.L230S|VMP1_ENST00000545362.1_Missense_Mutation_p.L308S|VMP1_ENST00000588617.1_3'UTR	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN	vacuole membrane protein 1	364					autophagy|cell adhesion	endoplasmic reticulum|ER-Golgi intermediate compartment membrane|integral to membrane|plasma membrane|vacuolar membrane				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						GAAAACTGGTTGTCCTGGATG	0.378000													136	254					0	0	1	0	0
NRDE2	55051	broad.mit.edu	37	14	90782950	90782950	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr14:90782950C>T	ENST00000354366.3	-	3	611	c.379G>A	c.(379-381)Ggc>Agc	p.G127S	NRDE2_ENST00000357904.3_Intron|NRDE2_ENST00000557106.1_5'UTR	NM_017970.3	NP_060440.2			NRDE-2, necessary for RNA interference, domain containing																		TTTTTACTGCCTCCAACGCCT	0.448000													9	142					0	0	1	0	0
WIPF2	147179	broad.mit.edu	37	17	38430138	38430138	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr17:38430138G>A	ENST00000323571.4	+	6	1307	c.1067G>A	c.(1066-1068)cGa>cAa	p.R356Q	WIPF2_ENST00000394103.3_Missense_Mutation_p.R98Q|WIPF2_ENST00000536600.1_Missense_Mutation_p.R98Q|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000583130.1_Missense_Mutation_p.R356Q|WIPF2_ENST00000585043.1_Missense_Mutation_p.R356Q	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	356						cytoplasm|cytoskeleton	actin binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						CCCCCGAGCCGAGGAAAGCCC	0.647000										HNSCC(43;0.11)			7	57					0	0	1	0	0
GEMIN4	50628	broad.mit.edu	37	17	650517	650517	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr17:650517C>T	ENST00000576778.1	-	1	2074	c.733G>A	c.(733-735)Gac>Aac	p.D245N	GEMIN4_ENST00000437269.1_Silent_p.T168T|GEMIN4_ENST00000319004.5_Missense_Mutation_p.D256N			P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	256					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TCCTGGGGGTCGTCCTCTGTC	0.607000													14	62					0	0	1	0	0
ZNF217	7764	broad.mit.edu	37	20	52192323	52192323	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr20:52192323C>A	ENST00000371471.2	-	4	3405	c.2980G>T	c.(2980-2982)Ggg>Tgg	p.G994W	ZNF217_ENST00000302342.3_Missense_Mutation_p.G994W			O75362	ZN217_HUMAN	zinc finger protein 217	994					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TAAAGTGGCCCGGAGCCACCA	0.557000													6	32					3.59834e-05	3.65087e-05	1	1	0
NR2F1	7025	broad.mit.edu	37	5	92923700	92923700	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr5:92923700G>T	ENST00000327111.3	+	2	2228	c.541G>T	c.(541-543)Ggc>Tgc	p.G181C		NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	181					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		CCCCCTCAACGGCCACTGCTA	0.597000													20	58					1.96292e-10	2.0286e-10	1	1	0
UGDH	7358	broad.mit.edu	37	4	39506909	39506909	+	Silent	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr4:39506909C>T	ENST00000316423.6	-	9	1461	c.1119G>A	c.(1117-1119)agG>agA	p.R373R	UGDH_ENST00000507089.1_Silent_p.R276R|UGDH_ENST00000506179.1_Silent_p.R373R|UGDH_ENST00000501493.2_Silent_p.R306R	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	373					glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity			breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27					NADH(DB00157)	CTATTTGTTCCCTAGGTACTT	0.348000													19	61					0	0	1	0	0
ZNF471	57573	broad.mit.edu	37	19	57037124	57037124	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr19:57037124G>T	ENST00000308031.5	+	5	1821	c.1688G>T	c.(1687-1689)aGa>aTa	p.R563I	ZNF471_ENST00000591537.1_3'UTR|ZNF471_ENST00000593197.1_3'UTR	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	563					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		CAACATCAAAGAATTCATACT	0.418000													12	86					5.50884e-06	5.60973e-06	1	1	0
TCERG1L	256536	broad.mit.edu	37	10	133106606	133106606	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr10:133106606C>T	ENST00000368642.4	-	3	623	c.538G>A	c.(538-540)Gag>Aag	p.E180K		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	180	WW 1.									cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		CTTGACTCCTCAGGATGTATC	0.473000													3	36					0	0	1	0	0
CIDECP	152302	broad.mit.edu	37	3	10065315	10065315	+	RNA	SNP	C	C	G			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr3:10065315C>G	ENST00000432401.1	-	0	433																											AAGTCGCCTTCATGTTCAGGC	0.498000													8	72					0	0	1	0	0
ZNF878	729747	broad.mit.edu	37	19	12155673	12155673	+	Missense_Mutation	SNP	A	A	C			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr19:12155673A>C	ENST00000602107.1	-	5	683	c.684T>G	c.(682-684)agT>agG	p.S228R	CTD-2006C1.10_ENST00000547473.1_Intron|ZNF878_ENST00000547628.1_Missense_Mutation_p.S181R|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA			C9JN71	ZN878_HUMAN	zinc finger protein 878	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AACTGGGAAAACTGAATGCTT	0.403000													4	172					0	0	1	0	0
USP51	158880	broad.mit.edu	37	X	55515340	55515340	+	Silent	SNP	G	G	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chrX:55515340G>A	ENST00000500968.3	-	2	115	c.33C>T	c.(31-33)tcC>tcT	p.S11S		NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	11					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	p.S11S(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						CCCCAGAGCCGGAGGGCAAAG	0.622000													3	21					0	0	1	0	0
MRS2	57380	broad.mit.edu	37	6	24418452	24418452	+	Missense_Mutation	SNP	T	T	G			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr6:24418452T>G	ENST00000378386.3	+	8	1070	c.977T>G	c.(976-978)aTt>aGt	p.I326S	MRS2_ENST00000483634.1_3'UTR|MRS2_ENST00000543597.1_Missense_Mutation_p.I35S|MRS2_ENST00000274747.7_3'UTR|MRS2_ENST00000535061.1_Missense_Mutation_p.I276S|MRS2_ENST00000378353.1_Missense_Mutation_p.I326S|MRS2_ENST00000443868.2_Missense_Mutation_p.I329S	NM_020662.2	NP_065713.1	Q9HD23	MRS2_HUMAN	MRS2 magnesium transporter	326					ion transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						ATTATTTTCATTAATCTGGAC	0.328000													19	68					0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210561679	210561679	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr2:210561679G>A	ENST00000360351.4	+	9	4932	c.4426G>A	c.(4426-4428)Gtt>Att	p.V1476I	MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000475600.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.V1472I|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1476					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AAAAACAGAAGTTCAGGCCCA	0.383000													7	51					0	0	1	0	0
ZC3H12A	80149	broad.mit.edu	37	1	37948757	37948757	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr1:37948757G>C	ENST00000373087.6	+	6	1461	c.1345G>C	c.(1345-1347)Gaa>Caa	p.E449Q		NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	449					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCAGATGTCGGAACTTTGGGG	0.657000													10	39					0	0	1	0	0
VAX2	25806	broad.mit.edu	37	2	71148366	71148366	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr2:71148366G>A	ENST00000234392.2	+	2	418	c.386G>A	c.(385-387)gGc>gAc	p.G129D		NM_012476.2	NP_036608.1	Q9UIW0	VAX2_HUMAN	ventral anterior homeobox 2	129					ectoderm development|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	7						TATGTGGTGGGCCGCGAGCGC	0.657000													12	39					0	0	1	0	0
DENND5A	23258	broad.mit.edu	37	11	9225496	9225496	+	Silent	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr11:9225496C>T	ENST00000328194.3	-	4	980	c.660G>A	c.(658-660)cgG>cgA	p.R220R	DENND5A_ENST00000530044.1_Silent_p.R220R	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	220	DENN.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CCAGCACGCTCCGACATGCCT	0.547000													4	14					0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37586781	37586781	+	Silent	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr21:37586781C>T	ENST00000399151.3	+	9	1141	c.1056C>T	c.(1054-1056)gaC>gaT	p.D352D		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	352					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TAGATGCTGACGTGGAGGAAC	0.388000													4	42					0	0	1	0	0
MECR	51102	broad.mit.edu	37	1	29528483	29528483	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr1:29528483C>G	ENST00000373791.3	-	6	872	c.500G>C	c.(499-501)aGa>aCa	p.R167T	MECR_ENST00000263702.6_Missense_Mutation_p.R243T	NM_001024732.1|NM_016011.2	NP_001019903|NP_057095.3	Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	243					fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		TTCGGGCCTTCTTAGCTCCTC	0.488000													65	260					0	0	1	0	0
OR51M1	390059	broad.mit.edu	37	11	5410829	5410829	+	Silent	SNP	G	G	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr11:5410829G>A	ENST00000328611.3	+	1	223	c.201G>A	c.(199-201)ctG>ctA	p.L67L	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	67						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCCTCGTCTGCACACACCCA	0.463000													8	69					0	0	1	0	0
KIF14	9928	broad.mit.edu	37	1	200572410	200572410	+	Silent	SNP	C	C	T	rs149518634		TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr1:200572410C>T	ENST00000367350.4	-	10	2361	c.1923G>A	c.(1921-1923)tcG>tcA	p.S641S		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	641					microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TTGCTTGTTCCGAAAGTGCAG	0.303000													17	113					0	0	1	0	0
NPY4R	5540	broad.mit.edu	37	10	47087175	47087175	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr10:47087175C>T	ENST00000374312.1	+	3	811	c.392C>T	c.(391-393)tCg>tTg	p.S131L	NPY4R_ENST00000395716.1_Missense_Mutation_p.S131L	NM_005972.4	NP_005963.4			neuropeptide Y receptor Y4																		TCCATCCTCTCGCTCGTCCTC	0.577000													16	117					0	0	1	0	0
GSAP	54103	broad.mit.edu	37	7	77004396	77004396	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr7:77004396G>C	ENST00000257626.7	-	11	842	c.764C>G	c.(763-765)tCa>tGa	p.S255*		NM_017439.3	NP_059135.2			gamma-secretase activating protein																		GTTGCTTAATGATATGTCCAA	0.308000													8	17					0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72400023	72400023	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr4:72400023C>T	ENST00000340595.3	+	15	2424	c.2228C>T	c.(2227-2229)cCg>cTg	p.P743L	SLC4A4_ENST00000264485.5_Missense_Mutation_p.P787L|SLC4A4_ENST00000425175.1_Missense_Mutation_p.P787L|SLC4A4_ENST00000351898.6_Missense_Mutation_p.P787L	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	787						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	p.P787Q(1)|p.P743Q(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			GCTGCTATCCCGGCTTTGTTG	0.433000													13	24					0	0	1	0	0
TRIP10	9322	broad.mit.edu	37	19	6741124	6741124	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr19:6741124C>G	ENST00000313244.9	+	2	163	c.128C>G	c.(127-129)gCc>gGc	p.A43G	TRIP10_ENST00000600428.1_5'UTR|TRIP10_ENST00000596543.1_3'UTR|TRIP10_ENST00000596758.1_Missense_Mutation_p.A43G|TRIP10_ENST00000313285.8_Missense_Mutation_p.A43G			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	43	FCH.|Induction of membrane tubulation.|Required for podosome formation and interaction with AKAP9 and microtubules.|Required for translocation to the plasma membrane in response to insulin (By similarity).				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						CAGGCTTACGCCAAACAACTG	0.637000													6	35					0	0	1	0	0
TULP3	7289	broad.mit.edu	37	12	3031463	3031463	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr12:3031463G>A	ENST00000448120.2	+	4	340	c.289G>A	c.(289-291)Gaa>Aaa	p.E97K	TULP3_ENST00000397132.2_Missense_Mutation_p.E97K	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	97					G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GAAACCAGACGAAGTTCATGC	0.428000													30	128					0	0	1	0	0
CACNG4	27092	broad.mit.edu	37	17	65014374	65014374	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr17:65014374C>T	ENST00000262138.3	+	2	292	c.290C>T	c.(289-291)tCg>tTg	p.S97L		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	97					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			CACGACAGCTCGGAGTACCTC	0.567000													7	43					0	0	1	0	0
STAT2	6773	broad.mit.edu	37	12	56743001	56743001	+	Silent	SNP	G	G	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr12:56743001G>A	ENST00000314128.4	-	16	1409	c.1386C>T	c.(1384-1386)ctC>ctT	p.L462L	STAT2_ENST00000557235.1_Silent_p.L458L|STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000418572.2_Intron			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	462					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						AGGCAATTGAGAGCTGGTTCA	0.542000													14	67					0	0	1	0	0
DENND2C	163259	broad.mit.edu	37	1	115167897	115167898	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr1:115167897_115167898insT	ENST00000393274.1	-	4	1333_1334	c.708_709insA	c.(706-711)aaatacfs	p.Y237fs	DENND2C_ENST00000393277.1_Frame_Shift_Ins_p.Y237fs|DENND2C_ENST00000393276.3_Frame_Shift_Ins_p.Y237fs|DENND2C_ENST00000481894.1_5'UTR	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	237										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTTCACAGTATTTTTTGTCAC	0.381													13	129	---	---	---	---					
ELF3	1999	broad.mit.edu	37	1	201981084	201981085	+	Splice_Site	INS	-	-	A			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr1:201981084_201981085insA	ENST00000359651.3	+	2	3355_3356		c.e2-1		ELF3_ENST00000367284.5_Splice_Site|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000495848.1_Splice_Site|ELF3_ENST00000367283.3_Splice_Site			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )						epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GGCCCTTGCAGAGAAGGCCAGC	0.540													61	99	---	---	---	---					
SAP130	79595	broad.mit.edu	37	2	128707874	128707874	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr2:128707874delT	ENST00000357702.5	-	17	2740	c.2609delA	c.(2608-2610)aagfs	p.K870fs	SAP130_ENST00000259234.6_Frame_Shift_Del_p.K843fs|SAP130_ENST00000259235.3_Frame_Shift_Del_p.K835fs	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	835	Interactions with SIN3A and HDAC1.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CTTTCGAGGCTTTTTCCTTGG	0.498													7	145	---	---	---	---					
PRMT7	54496	broad.mit.edu	37	16	68380160	68380164	+	Frame_Shift_Del	DEL	CGATA	CGATA	-			TCGA-GD-A76B-01A-11D-A32B-08	TCGA-GD-A76B-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3456d6-4a87-4162-ace9-720eb4173a10	c7c5ccda-cd86-4cc6-aee2-4081c93c7c69	g.chr16:68380160_68380164delCGATA	ENST00000339507.5	+	11	1998_2002	c.1168_1172delCGATA	c.(1168-1173)cgatacfs	p.RY390fs	PRMT7_ENST00000449359.3_Frame_Shift_Del_p.RY340fs|PRMT7_ENST00000348497.4_Frame_Shift_Del_p.RY316fs|PRMT7_ENST00000441236.1_Frame_Shift_Del_p.RY340fs			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	390					cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		CAGAACTGATCGATACGTCCAGGCT	0.556													11	38	---	---	---	---