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
PSG8	440533	broad.mit.edu	37	19	43258583	43258583	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr19:43258583G>T	ENST00000404209.4	-	5	1241	c.1145C>A	c.(1144-1146)cCc>cAc	p.P382H	PSG8_ENST00000401467.2_Missense_Mutation_p.P289H|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000306511.4_Missense_Mutation_p.P382H|PSG8_ENST00000406636.3_Missense_Mutation_p.P260H	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	382	Ig-like C2-type 3.					extracellular region		p.P382L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				AGTAATTTGGGGGATAAAGAG	0.463000													8	438					7.48243e-07	8.16922e-07	1	1	0
PLCB4	5332	broad.mit.edu	37	20	9402028	9402028	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr20:9402028C>G	ENST00000378501.2	+	23	2218	c.2203C>G	c.(2203-2205)Cgt>Ggt	p.R735G	PLCB4_ENST00000378473.3_Missense_Mutation_p.R747G|PLCB4_ENST00000334005.3_Missense_Mutation_p.R735G|PLCB4_ENST00000278655.4_Missense_Mutation_p.R735G|PLCB4_ENST00000414679.2_Missense_Mutation_p.R747G|PLCB4_ENST00000378493.1_Missense_Mutation_p.R735G|PLCB4_ENST00000492632.1_3'UTR	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	735	C2.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TGACACCATACGTAAGGAATT	0.413000													5	84					0	0	1	0	0
TRIP11	9321	broad.mit.edu	37	14	92480763	92480763	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr14:92480763C>T	ENST00000267622.4	-	7	1355	c.982G>A	c.(982-984)Gac>Aac	p.D328N		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	328					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		ATATCTCTGTCATTTTCTGCA	0.289000			T	PDGFRB	AML								9	34					0	0	1	0	0
SPG11	80208	broad.mit.edu	37	15	44856771	44856771	+	Silent	SNP	G	G	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr15:44856771G>T	ENST00000261866.7	-	39	7141	c.7125C>A	c.(7123-7125)tcC>tcA	p.S2375S	SPG11_ENST00000427534.2_Intron|SPG11_ENST00000535302.2_Silent_p.S2262S	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	2375					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CAAATATACTGGACTTTAATA	0.323000													6	36					3.59834e-05	3.81795e-05	1	1	0
AHNAK	79026	broad.mit.edu	37	11	62292516	62292516	+	Missense_Mutation	SNP	C	C	T	rs79187953	by1000genomes	TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr11:62292516C>T	ENST00000378024.4	-	5	9647	c.9373G>A	c.(9373-9375)Gtg>Atg	p.V3125M	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3125					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTAATATCCACGTCAGGAACT	0.458000													80	382					0	0	1	0	0
PRKACG	5568	broad.mit.edu	37	9	71628437	71628437	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr9:71628437C>T	ENST00000377276.2	-	1	602	c.572G>A	c.(571-573)cGc>cAc	p.R191H		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	191	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GCCCTTCACGCGCTTGGCGAA	0.627000													3	39					0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30976005	30976005	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr2:30976005G>T	ENST00000295055.8	-	10	1177	c.1001C>A	c.(1000-1002)cCa>cAa	p.P334Q	CAPN13_ENST00000534090.2_Missense_Mutation_p.P334Q	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	334					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					CAGGGTAATTGGAATTTCGCT	0.418000													7	214					0.0381472	0.0383168	1	1	0
LIX1	167410	broad.mit.edu	37	5	96460172	96460172	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr5:96460172G>A	ENST00000274382.4	-	2	539	c.244C>T	c.(244-246)Cag>Tag	p.Q82*	CTD-2215E18.1_ENST00000509481.1_Intron	NM_153234.4	NP_694966.3	Q8N485	LIX1_HUMAN	Lix1 homolog (chicken)	82										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.0733)		CTTCTTACCTGAAAGTTGCCA	0.428000													19	76					0	0	1	0	0
DAXX	1616	broad.mit.edu	37	6	33288849	33288849	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr6:33288849G>C	ENST00000374542.5	-	3	907	c.703C>G	c.(703-705)Ctc>Gtc	p.L235V	DAXX_ENST00000414083.2_Missense_Mutation_p.L160V|DAXX_ENST00000266000.6_Missense_Mutation_p.L235V|DAXX_ENST00000477162.1_Intron	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	235					activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						CGCCCAAAGAGGCGGATCAGC	0.572000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								4	81					0	0	1	0	0
MAG	4099	broad.mit.edu	37	19	35786626	35786626	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr19:35786626G>A	ENST00000361922.4	+	4	307	c.157G>A	c.(157-159)Gct>Act	p.A53T	MAG_ENST00000392213.3_Missense_Mutation_p.A53T|MAG_ENST00000597035.1_Missense_Mutation_p.A53T|MAG_ENST00000537831.2_Missense_Mutation_p.A28T	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	myelin associated glycoprotein	53	Ig-like V-type.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	p.A53T(4)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GCTGCGGCCCGCTGTGGTGCA	0.622000													5	148					0	0	1	0	0
PEX6	5190	broad.mit.edu	37	6	42935145	42935145	+	Silent	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr6:42935145G>A	ENST00000304611.8	-	8	1914	c.1845C>T	c.(1843-1845)ggC>ggT	p.G615G	PEX6_ENST00000244546.4_Silent_p.G615G	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	615					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			TCACCTCCTGGCCCAGGGGAA	0.602000													6	21					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152284654	152284654	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr1:152284654C>G	ENST00000368799.1	-	3	2743	c.2708G>C	c.(2707-2709)aGa>aCa	p.R903T	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	903	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAGCCGTCTCTTGATTGTTC	0.562000									Ichthyosis				215	442					0	0	1	0	0
LPIN1	23175	broad.mit.edu	37	2	11924028	11924028	+	Silent	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr2:11924028G>A	ENST00000256720.2	+	8	1323	c.1230G>A	c.(1228-1230)gcG>gcA	p.A410A	LPIN1_ENST00000396097.1_Silent_p.A140A|LPIN1_ENST00000396099.1_Silent_p.A452A|LPIN1_ENST00000425416.2_Silent_p.A416A|LPIN1_ENST00000449576.2_Silent_p.A495A|LPIN1_ENST00000396098.1_Silent_p.A452A	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	410					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		CTGAAGTGGCGGCCCTGTATT	0.428000													7	267					0	0	1	0	0
MAPKAP1	79109	broad.mit.edu	37	9	128201270	128201270	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr9:128201270G>A	ENST00000265960.3	-	12	1797	c.1465C>T	c.(1465-1467)Cga>Tga	p.R489*	MAPKAP1_ENST00000483937.1_5'UTR|MAPKAP1_ENST00000350766.3_Nonsense_Mutation_p.R453*|MAPKAP1_ENST00000373498.1_Nonsense_Mutation_p.R489*|MAPKAP1_ENST00000373497.5_Nonsense_Mutation_p.R202*|MAPKAP1_ENST00000373511.2_Nonsense_Mutation_p.R442*|MAPKAP1_ENST00000394063.1_Nonsense_Mutation_p.R297*|MAPKAP1_ENST00000373503.3_Nonsense_Mutation_p.R297*	NM_001006617.1	NP_001006618.1	Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	489	Interaction with ATF2.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						GTGCTAGCTCGCGATTCCAGG	0.557000													15	87					0	0	1	0	0
ANKRD17	26057	broad.mit.edu	37	4	74005792	74005792	+	Silent	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr4:74005792C>T	ENST00000358602.4	-	15	2657	c.2541G>A	c.(2539-2541)aaG>aaA	p.K847K	ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000330838.6_Intron|ANKRD17_ENST00000509867.2_Silent_p.K734K	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	847					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCTCCTCGATCTTCTCCTTGG	0.413000													6	245					0	0	1	0	0
ASB9	140462	broad.mit.edu	37	X	15262664	15262664	+	Silent	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chrX:15262664G>A	ENST00000380488.4	-	7	1122	c.849C>T	c.(847-849)ctC>ctT	p.L283L	ASB9_ENST00000380485.3_3'UTR|ASB9_ENST00000546332.1_3'UTR|ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380483.3_3'UTR	NM_001031739.2	NP_001026909.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	283	SOCS box.				intracellular signal transduction					breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					GATCCTCTGGGAGGACGAGTT	0.423000													5	123					0	0	1	0	0
TMIGD2	126259	broad.mit.edu	37	19	4294804	4294804	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr19:4294804G>A	ENST00000301272.2	-	3	461	c.416C>T	c.(415-417)aCa>aTa	p.T139I	TMIGD2_ENST00000600349.1_Intron|TMIGD2_ENST00000600114.1_Missense_Mutation_p.T19I|TMIGD2_ENST00000595645.1_Missense_Mutation_p.T139I	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	139						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTGTTCTGTGTGGGGTCATC	0.592000													7	51					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76912672	76912672	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr11:76912672C>T	ENST00000409709.3	+	36	5304	c.5032C>T	c.(5032-5034)Cgg>Tgg	p.R1678W	MYO7A_ENST00000409619.2_Missense_Mutation_p.R1629W|MYO7A_ENST00000458637.2_Missense_Mutation_p.R1640W	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1678					actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.R1678W(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CATGCCACCGCGGGAGATTGT	0.592000													10	53					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179604390	179604390	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr2:179604390C>G	ENST00000589042.1	-	48	13794	c.13570G>C	c.(13570-13572)Gtt>Ctt	p.V4524L	TTN_ENST00000591111.1_Missense_Mutation_p.V4207L|TTN_ENST00000342175.6_Missense_Mutation_p.V4353L|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V4161L|TTN_ENST00000359218.5_Missense_Mutation_p.V4286L|TTN_ENST00000342992.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4207	Ig-like 25.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTAGATTCAACTTCTGGTTCA	0.398000													7	121					0	0	1	0	0
MTMR8	55613	broad.mit.edu	37	X	63569920	63569920	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chrX:63569920C>A	ENST00000374852.3	-	5	566	c.499G>T	c.(499-501)Gtt>Ttt	p.V167F	MTMR8_ENST00000453546.1_Missense_Mutation_p.V167F	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	167	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						GATTTAGGAACCACTATTTCA	0.348000													15	88					7.07596e-05	7.47274e-05	1	1	0
MEGF8	1954	broad.mit.edu	37	19	42880569	42880569	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr19:42880569G>T	ENST00000334370.4	+	41	8614	c.7979G>T	c.(7978-7980)cGc>cTc	p.R2660L	MEGF8_ENST00000378073.4_Missense_Mutation_p.R321L|MEGF8_ENST00000251268.6_Missense_Mutation_p.R2727L	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2727						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GCCTTCCGCCGCTCTGAGCCC	0.731000													3	17					0.00909568	0.00925957	1	1	0
SCAP	22937	broad.mit.edu	37	3	47468956	47468956	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr3:47468956C>A	ENST00000265565.5	-	5	1024	c.612G>T	c.(610-612)caG>caT	p.Q204H	SCAP_ENST00000441517.2_Intron|SCAP_ENST00000545718.1_Intron	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	204					cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		TGGCTGAAGTCTGCAGGGTTT	0.522000													40	122					7.53189e-24	8.91208e-24	1	1	0
ARHGEF2	9181	broad.mit.edu	37	1	155920659	155920659	+	Silent	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr1:155920659G>A	ENST00000368316.1	-	24	3050	c.2580C>T	c.(2578-2580)ccC>ccT	p.P860P	ARHGEF2_ENST00000313667.4_Silent_p.P887P|ARHGEF2_ENST00000313695.7_Silent_p.P860P|ARHGEF2_ENST00000368315.3_Silent_p.P889P|ARHGEF2_ENST00000361247.4_Silent_p.P888P			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	888					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CATCGCCTGCGGGGAGGCTGC	0.672000													42	53					0	0	1	0	0
B4GALT7	11285	broad.mit.edu	37	5	177035995	177035995	+	Missense_Mutation	SNP	C	C	T	rs28937869		TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr5:177035995C>T	ENST00000029410.5	+	5	919	c.808C>T	c.(808-810)Cgc>Tgc	p.R270C		NM_007255.2	NP_009186.1	Q9UBV7	B4GT7_HUMAN	xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7	270					fibril organization|glycosaminoglycan biosynthetic process|negative regulation of fibroblast proliferation|protein modification process|proteoglycan metabolic process	Golgi cisterna membrane|integral to membrane	metal ion binding|xylosylprotein 4-beta-galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	7	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGACCAGAAGCGCATCGCAGC	0.597000													10	44					0	0	1	0	0
GPC2	221914	broad.mit.edu	37	7	99773975	99773975	+	Silent	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr7:99773975C>T	ENST00000292377.2	-	2	347	c.180G>A	c.(178-180)cgG>cgA	p.R60R		NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN	glypican 2	60						anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGGGACAGACCCGGAGGTGCT	0.577000													12	43					0	0	1	0	0
TET2	54790	broad.mit.edu	37	4	106157590	106157590	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr4:106157590C>T	ENST00000513237.1	+	3	3351	c.2554C>T	c.(2554-2556)Cag>Tag	p.Q852*	TET2_ENST00000394764.1_Nonsense_Mutation_p.Q831*|TET2_ENST00000545826.1_Nonsense_Mutation_p.Q831*|TET2_ENST00000305737.2_Nonsense_Mutation_p.Q831*|TET2_ENST00000540549.1_Nonsense_Mutation_p.Q831*|TET2_ENST00000413648.2_Nonsense_Mutation_p.Q831*|TET2_ENST00000380013.4_Nonsense_Mutation_p.Q831*			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	831	Gln-rich.				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		ATGCAAAATACAGGTTTCTTG	0.378000			"""Mis N, F"""		MDS								11	54					0	0	1	0	0
ACLY	47	broad.mit.edu	37	17	40042444	40042444	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr17:40042444C>T	ENST00000352035.2	-	18	2123	c.1993G>A	c.(1993-1995)Ggc>Agc	p.G665S	ACLY_ENST00000590151.1_Missense_Mutation_p.G665S|ACLY_ENST00000353196.1_Missense_Mutation_p.G655S|ACLY_ENST00000393896.2_Missense_Mutation_p.G655S|ACLY_ENST00000537919.1_Missense_Mutation_p.G394S	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	665					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				TTGGACATGCCTCCGGAACGT	0.567000													43	193					0	0	1	0	0
AGO2	27161	broad.mit.edu	37	8	141572716	141572716	+	Silent	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr8:141572716C>T	ENST00000220592.5	-	4	466	c.354G>A	c.(352-354)acG>acA	p.T118T	AGO2_ENST00000519980.1_Silent_p.T118T	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2																		CTCCTGGCAGCGTGACCTCCA	0.607000													28	135					0	0	1	0	0
FN3KRP	79672	broad.mit.edu	37	17	80680699	80680699	+	Silent	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr17:80680699G>A	ENST00000269373.6	+	4	478	c.405G>A	c.(403-405)gaG>gaA	p.E135E	FN3KRP_ENST00000535965.1_Silent_p.E85E	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	135							kinase activity			breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			GTGGGCAGGAGGAACGGCCCT	0.532000													11	56					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139626142	139626142	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr8:139626142G>T	ENST00000303045.6	-	56	4392	c.3946C>A	c.(3946-3948)Cca>Aca	p.P1316T	COL22A1_ENST00000435777.1_Missense_Mutation_p.P1296T|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1316	Collagen-like 13.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGACCCTGTGGCCCAGTGGGT	0.478000										HNSCC(7;0.00092)			20	174					1.2644e-06	1.37382e-06	1	1	0
OR2M5	127059	broad.mit.edu	37	1	248308964	248308964	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr1:248308964G>A	ENST00000366476.1	+	1	515	c.515G>A	c.(514-516)cGg>cAg	p.R172Q		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TGTGGGTCTCGGGAAATAGCC	0.428000													5	389					0	0	1	0	0
RBM33	155435	broad.mit.edu	37	7	155534637	155534637	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr7:155534637G>A	ENST00000401878.3	+	13	2372	c.2174G>A	c.(2173-2175)cGc>cAc	p.R725H		NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	725							nucleotide binding|RNA binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		AGCAGCAGCCGCTGCTCTGCC	0.592000													4	136					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178938934	178938934	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr3:178938934G>A	ENST00000263967.3	+	14	2333	c.2176G>A	c.(2176-2178)Gaa>Aaa	p.E726K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	726					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.E726K(8)		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)			GAAGAAGGATGAAACACAAAA	0.428000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			13	64					0	0	1	0	0
SEPT3	55964	broad.mit.edu	37	22	42390637	42390637	+	Silent	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr22:42390637G>A	ENST00000396425.3	+	10	1061	c.930G>A	c.(928-930)caG>caA	p.Q310Q	SEPT3_ENST00000291236.11_Silent_p.Q246Q|SEPT3_ENST00000406029.1_Silent_p.Q246Q|SEPT3_ENST00000396426.3_Silent_p.Q310Q|SEPT3_ENST00000328414.8_3'UTR	NM_019106.5	NP_061979.3	Q9UH03	SEPT3_HUMAN	septin 3	310					cell cycle|cytokinesis	cell junction|septin complex	GTP binding			breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						CCCACCTCCAGGACCTCAAGG	0.577000													16	69					0	0	1	0	0
SCUBE2	57758	broad.mit.edu	37	11	9068965	9068965	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr11:9068965C>A	ENST00000457346.2	-	16	2014	c.1940G>T	c.(1939-1941)aGa>aTa	p.R647I	RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000450649.2_Missense_Mutation_p.R492I|SCUBE2_ENST00000309263.3_Missense_Mutation_p.R618I|SCUBE2_ENST00000520467.1_Missense_Mutation_p.R647I			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	618						extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		TTCAGATGTTCTGGGAGGCTT	0.562000													9	62					3.09899e-07	3.41644e-07	1	1	0
DNHD1	144132	broad.mit.edu	37	11	6524004	6524004	+	Silent	SNP	T	T	C			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr11:6524004T>C	ENST00000254579.6	+	4	1332	c.768T>C	c.(766-768)gtT>gtC	p.V256V	DNHD1_ENST00000354685.3_Silent_p.V256V|DNHD1_ENST00000527990.2_Silent_p.V256V	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	256					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ACTATGAAGTTCCCAGGGAAA	0.498000													5	52					0	0	1	0	0
AK5	26289	broad.mit.edu	37	1	77752659	77752659	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr1:77752659G>A	ENST00000344720.5	+	2	1042	c.16G>A	c.(16-18)Gaa>Aaa	p.E6K	AK5_ENST00000354567.2_Missense_Mutation_p.E32K|AK5_ENST00000317704.4_3'UTR	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	32					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						TTCTAAGCCCGAAGATCCAGT	0.333000													11	63					0	0	1	0	0
DYRK1A	1859	broad.mit.edu	37	21	38862527	38862527	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr21:38862527G>T	ENST00000339659.3	+	6	2158	c.688G>T	c.(688-690)Gaa>Taa	p.E230*	DYRK1A_ENST00000338785.3_Nonsense_Mutation_p.E239*|DYRK1A_ENST00000398956.2_Nonsense_Mutation_p.E239*|DYRK1A_ENST00000451934.1_Nonsense_Mutation_p.E239*|DYRK1A_ENST00000455387.2_Nonsense_Mutation_p.E11*|DYRK1A_ENST00000398960.2_Nonsense_Mutation_p.E239*|DYRK1A_ENST00000321219.8_Nonsense_Mutation_p.E239*	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	239	Protein kinase.				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						TTTAGTTTTTGAAATGCTGTC	0.378000													11	57					1.08611e-07	1.20324e-07	1	1	0
TMC7	79905	broad.mit.edu	37	16	19033066	19033066	+	Silent	SNP	G	G	A	rs111625310		TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr16:19033066G>A	ENST00000421369.3	+	4	804	c.246G>A	c.(244-246)acG>acA	p.T82T	TMC7_ENST00000569532.1_Silent_p.T192T|TMC7_ENST00000304381.5_Silent_p.T192T	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	192						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						TCTTACTCACGAAATACAAGA	0.418000													11	58					0	0	1	0	0
GATA6	2627	broad.mit.edu	37	18	19780729	19780729	+	Silent	SNP	G	G	A	rs144224065		TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr18:19780729G>A	ENST00000269216.3	+	7	2008	c.1731G>A	c.(1729-1731)ccG>ccA	p.P577P	GATA6_ENST00000581694.1_Silent_p.P577P|RP11-627G18.1_ENST00000583442.1_RNA	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	577					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			TCGCCTCGCCGGCCGAAGTCA	0.677000													4	64					0	0	1	0	0
PARP10	84875	broad.mit.edu	37	8	145059674	145059674	+	Silent	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr8:145059674C>T	ENST00000313028.7	-	4	673	c.579G>A	c.(577-579)ctG>ctA	p.L193L	PARP10_ENST00000533665.1_5'UTR|PARP10_ENST00000524918.1_Silent_p.L193L|PARP10_ENST00000525773.1_Silent_p.L205L	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	193	Poly-Leu.					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCTCATTCTCCAGGTACAACT	0.677000													10	55					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9070969	9070969	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr19:9070969T>C	ENST00000397910.4	-	3	16680	c.16477A>G	c.(16477-16479)Agc>Ggc	p.S5493G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5495	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCAGACGTGCTGCTCTCCCTC	0.483000													13	88					0	0	1	0	0
NAA35	60560	broad.mit.edu	37	9	88622379	88622379	+	Splice_Site	SNP	A	A	C			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr9:88622379A>C	ENST00000361671.5	+	14	1356	c.1223_splice	c.e14+1	p.K408_splice		NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	408					smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						CTTTCCCCCAAGTAAGTATTG	0.408000													5	97					0	0	1	0	0
EFNB1	1947	broad.mit.edu	37	X	68060232	68060232	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chrX:68060232C>T	ENST00000204961.4	+	5	1556	c.776C>T	c.(775-777)aCg>aTg	p.T259M		NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN	ephrin-B1	259					cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding	p.T259M(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						ATCTTCCTGACGGTCCTACTA	0.617000													6	44					0	0	1	0	0
BTBD7	55727	broad.mit.edu	37	14	93730165	93730165	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr14:93730165T>A	ENST00000334746.5	-	4	1644	c.1337A>T	c.(1336-1338)cAt>cTt	p.H446L	BTBD7_ENST00000393170.2_Intron|BTBD7_ENST00000554565.1_Missense_Mutation_p.H95L	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	446										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		AGTAAGCAGATGGTCTTTGCT	0.423000													15	81					0	0	1	0	0
BTBD16	118663	broad.mit.edu	37	10	124045696	124045696	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr10:124045696G>C	ENST00000368994.2	+	5	572	c.321G>C	c.(319-321)aaG>aaC	p.K107N	BTBD16_ENST00000260723.4_Missense_Mutation_p.K106N			Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	106										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				CCTTGGCCAAGCTCTACCTGA	0.587000													58	189					0	0	1	0	0
CPNE4	131034	broad.mit.edu	37	3	131283145	131283145	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr3:131283145A>G	ENST00000512055.1	-	15	3102	c.976T>C	c.(976-978)Tcc>Ccc	p.S326P	CPNE4_ENST00000502818.1_Missense_Mutation_p.S344P|CPNE4_ENST00000429747.1_Missense_Mutation_p.S326P|CPNE4_ENST00000511604.1_Missense_Mutation_p.S326P|CPNE4_ENST00000512332.1_Missense_Mutation_p.S344P			Q96A23	CPNE4_HUMAN	copine IV	326	VWFA.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TAGTGCAAGGAACAGCTGTTC	0.443000													18	75					0	0	1	0	0
WNT6	7475	broad.mit.edu	37	2	219735804	219735804	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr2:219735804C>T	ENST00000233948.3	+	2	353	c.136C>T	c.(136-138)Cgg>Tgg	p.R46W	WNT6_ENST00000486233.1_Intron	NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family, member 6	46					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	p.R46W(1)		large_intestine(1)|ovary(2)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAAGGCACGGCGGCTGGCCGG	0.652000													26	64					0	0	1	0	0
ZXDA	7789	broad.mit.edu	37	X	57935934	57935934	+	Silent	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chrX:57935934G>A	ENST00000358697.4	-	1	1133	c.921C>T	c.(919-921)tgC>tgT	p.C307C		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	307	Required for interaction with ZXDC.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						AGGTCCAGCCGCAGCCACCCA	0.632000													4	22					0	0	1	0	0
DNMT3A	1788	broad.mit.edu	37	2	25472552	25472552	+	Missense_Mutation	SNP	G	G	A	rs151168784		TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr2:25472552G>A	ENST00000380746.4	-	2	159	c.46C>T	c.(46-48)Cgt>Tgt	p.R16C	DNMT3A_ENST00000264709.3_Intron|DNMT3A_ENST00000402667.1_Intron|DNMT3A_ENST00000321117.5_Intron	NM_153759.3	NP_715640.2	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	56					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCAGGCTACGATCCACGCGC	0.478000			"""Mis, F, N, S"""		AML								5	88					0	0	1	0	0
GALNT7	51809	broad.mit.edu	37	4	174213302	174213302	+	Missense_Mutation	SNP	G	G	A	rs146899388		TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr4:174213302G>A	ENST00000265000.4	+	3	714	c.631G>A	c.(631-633)Gtt>Att	p.V211I	GALNT7_ENST00000512285.1_Missense_Mutation_p.V211I|GALNT7_ENST00000502407.1_3'UTR	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)	211	Catalytic subdomain A.				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		CACTTCGAGCGTTGTCATTGT	0.363000													10	45					0	0	1	0	0
EPB41L4B	54566	broad.mit.edu	37	9	111962564	111962564	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr9:111962564G>A	ENST00000374566.3	-	20	2514	c.1997C>T	c.(1996-1998)cCg>cTg	p.P666L		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	666						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTTGATTTCCGGCTTTTCCAC	0.403000													9	73					0	0	1	0	0
OR5D16	390144	broad.mit.edu	37	11	55607047	55607047	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr11:55607047A>G	ENST00000378396.1	+	1	820	c.820A>G	c.(820-822)Aaa>Gaa	p.K274E		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	274					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)				GCACACAGTCAAAGTGGCCTC	0.478000													13	67					0	0	1	0	0
RAB6A	5870	broad.mit.edu	37	11	73429683	73429683	+	Silent	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr11:73429683C>T	ENST00000336083.3	-	4	719	c.264G>A	c.(262-264)gtG>gtA	p.V88V	RAB6A_ENST00000310653.6_Intron|RAB6A_ENST00000536566.1_Intron|RAB6A_ENST00000541588.1_Intron	NM_198896.1	NP_942599.1	P20340	RAB6A_HUMAN	RAB6A, member RAS oncogene family	88					minus-end-directed organelle transport along microtubule|peptidyl-cysteine methylation|protein targeting to Golgi|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction	cytoplasmic vesicle|cytosol|Golgi membrane|trans-Golgi network	GTP binding|GTPase activity|protein domain specific binding			large_intestine(2)|lung(2)	4						CAACAACTGCCACAGTGGAGT	0.418000													7	39					0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73152119	73152119	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr9:73152119C>T	ENST00000377110.2	-	25	4117	c.3874G>A	c.(3874-3876)Gcc>Acc	p.A1292T	TRPM3_ENST00000423814.3_Missense_Mutation_p.A1319T|TRPM3_ENST00000377105.1_Missense_Mutation_p.A1151T|TRPM3_ENST00000408909.2_Missense_Mutation_p.A1151T|TRPM3_ENST00000396280.5_Missense_Mutation_p.A1141T|TRPM3_ENST00000377106.1_Missense_Mutation_p.A1164T|TRPM3_ENST00000377111.2_Missense_Mutation_p.A1292T|TRPM3_ENST00000396285.1_Missense_Mutation_p.A1151T|TRPM3_ENST00000360823.2_Missense_Mutation_p.A1154T|TRPM3_ENST00000396292.4_Missense_Mutation_p.A1164T|TRPM3_ENST00000357533.2_Missense_Mutation_p.A1296T|TRPM3_ENST00000358082.3_Missense_Mutation_p.A1154T	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1317						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						ATGTAGGCGGCGTCCGTGCAG	0.612000													6	130					0	0	1	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659734	24659734	+	RNA	SNP	T	T	C			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr22:24659734T>C	ENST00000414583.2	+	0	3259					NR_003714.1																						CTCTCTCCTGTGGGAGGGGGG	0.632000													4	23					0	0	1	0	0
CHUK	1147	broad.mit.edu	37	10	101961881	101961881	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr10:101961881C>A	ENST00000370397.7	-	14	1619	c.1533G>T	c.(1531-1533)tgG>tgT	p.W511C		NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	511					I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|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	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)		CCATTTCTTTCCATGCTTTTA	0.348000													10	46					5.16669e-11	5.83836e-11	1	1	0
NOTCH1	4851	broad.mit.edu	37	9	139412697	139412697	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr9:139412697C>A	ENST00000277541.6	-	7	1222	c.1147G>T	c.(1147-1149)Gag>Tag	p.E383*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	383	EGF-like 10.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.E383K(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TTGGAGCCCTCGTTACAGGGG	0.667000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			4	6					1.23904e-05	1.32712e-05	1	1	0
DMD	1756	broad.mit.edu	37	X	31676189	31676189	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chrX:31676189G>A	ENST00000357033.4	-	54	8151	c.7945C>T	c.(7945-7947)Cgg>Tgg	p.R2649W	DMD_ENST00000378677.2_Missense_Mutation_p.R2645W|DMD_ENST00000343523.2_Missense_Mutation_p.R189W|DMD_ENST00000474231.1_Missense_Mutation_p.R189W|DMD_ENST00000359836.1_Missense_Mutation_p.R189W|DMD_ENST00000541735.1_Missense_Mutation_p.R189W|DMD_ENST00000378707.3_Missense_Mutation_p.R189W	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2649					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.R189W(2)|p.R2645W(2)|p.R2644W(1)|p.R1308W(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GAATAATCCCGGAGAAGTTTC	0.393000													16	77					0	0	1	0	0
ADCY9	115	broad.mit.edu	37	16	4016809	4016809	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr16:4016809C>T	ENST00000294016.3	-	11	3567	c.3029G>A	c.(3028-3030)gGa>gAa	p.G1010E		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1010					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TTCCACGTCTCCGTGGTAGTG	0.572000													36	174					0	0	1	0	0
NELFA	7469	broad.mit.edu	37	4	1991455	1991455	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr4:1991455C>G	ENST00000382882.3	-	3	1674	c.557G>C	c.(556-558)cGg>cCg	p.R186P	NELFA_ENST00000411638.1_Missense_Mutation_p.R175P|NELFA_ENST00000542778.1_Missense_Mutation_p.R40P	NM_005663.4	NP_005654.3			negative elongation factor complex member A																		CAGCTCCGCCCGCAGCGTGGC	0.562000													70	281					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86415740	86415740	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr7:86415740C>T	ENST00000361669.2	+	3	1731	c.632C>T	c.(631-633)aCc>aTc	p.T211I	GRM3_ENST00000439827.1_Missense_Mutation_p.T211I|GRM3_ENST00000536043.1_Missense_Mutation_p.T83I|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000394720.2_Missense_Mutation_p.T209I|AC005009.2_ENST00000418031.1_RNA|AC005009.2_ENST00000452471.1_RNA	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	211					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TTCAACTGGACCTACGTGTCC	0.587000													19	91					0	0	1	0	0
RCBTB1	55213	broad.mit.edu	37	13	50108311	50108311	+	Silent	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr13:50108311G>A	ENST00000378302.2	-	13	1803	c.1543C>T	c.(1543-1545)Ctg>Ttg	p.L515L	RCBTB1_ENST00000258646.3_Silent_p.L515L|RCBTB1_ENST00000471984.1_5'UTR	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	515					cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		TCCTTTAGCAGAGGGCCATCC	0.443000													6	164					0	0	1	0	0
PER1	5187	broad.mit.edu	37	17	8051406	8051406	+	Silent	SNP	C	C	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr17:8051406C>A	ENST00000317276.4	-	10	1380	c.1143G>T	c.(1141-1143)ctG>ctT	p.L381L	PER1_ENST00000354903.5_Silent_p.L365L|PER1_ENST00000581082.1_Silent_p.L361L	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	381	PAS 2.				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GCAGGTAGCCCAGCAGGGGGG	0.637000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					8	33					0.00307968	0.00314936	1	1	0
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													6	11					0	0	1	0	0
KIAA1984	84960	broad.mit.edu	37	9	139699072	139699072	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr9:139699072A>G	ENST00000338005.6	+	7	820	c.785A>G	c.(784-786)tAc>tGc	p.Y262C	KIAA1984-AS1_ENST00000414656.1_RNA|KIAA1984_ENST00000371682.3_3'UTR	NM_001039374.4	NP_001034463.4	Q5T5S1	K1984_HUMAN	KIAA1984	262										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		AGCGAGAAGTACCGCCGGGTA	0.652000													4	115					0	0	1	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659813	24659813	+	RNA	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr22:24659813C>T	ENST00000414583.2	+	0	3338					NR_003714.1																						ATCTGCGCACCCGGAGGTGGG	0.607000													4	6					0	0	1	0	0
PCDHA10	56139	broad.mit.edu	37	5	140235928	140235928	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr5:140235928G>A	ENST00000307360.5	+	1	295	c.295G>A	c.(295-297)Gtg>Atg	p.V99M	PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.V99M|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGCGGAGCGTGGAGTGCAG	0.562000													42	228					0	0	1	0	0
ORMDL1	94101	broad.mit.edu	37	2	190636519	190636519	+	Missense_Mutation	SNP	G	G	A	rs149214557	by1000genomes	TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr2:190636519G>A	ENST00000325795.3	-	3	1222	c.436C>T	c.(436-438)Cgg>Tgg	p.R146W	ORMDL1_ENST00000392350.3_Missense_Mutation_p.R146W|ORMDL1_ENST00000496543.1_5'UTR|ORMDL1_ENST00000392349.4_Missense_Mutation_p.R146W			Q9P0S3	ORML1_HUMAN	ORM1-like 1 (S. cerevisiae)	146					ceramide metabolic process	endoplasmic reticulum membrane|integral to membrane				breast(1)|urinary_tract(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00177)|Epithelial(96;0.0317)|all cancers(119;0.0889)			CCAAAGATCCGAACACCATGT	0.353000													11	45					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38893984	38893984	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr6:38893984C>T	ENST00000359357.3	+	72	10719	c.10465C>T	c.(10465-10467)Cag>Tag	p.Q3489*	DNAH8_ENST00000449981.2_Nonsense_Mutation_p.Q3706*|RP1-207H1.3_ENST00000416948.1_RNA|RP1-207H1.3_ENST00000418399.1_RNA|DNAH8_ENST00000441566.1_Nonsense_Mutation_p.Q3453*					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAATGATTTACAGGTATGTAG	0.368000													6	75					0	0	1	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659741	24659741	+	RNA	SNP	G	G	A	rs144618782	by1000genomes	TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr22:24659741G>A	ENST00000414583.2	+	0	3266					NR_003714.1																						CTGTGGGAGGGGGGAATGTTC	0.622000													3	24					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71788949	71788949	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr2:71788949C>T	ENST00000258104.3	+	23	2507	c.2230C>T	c.(2230-2232)Cgc>Tgc	p.R744C	DYSF_ENST00000409651.1_Missense_Mutation_p.R776C|DYSF_ENST00000409366.1_Missense_Mutation_p.R745C|DYSF_ENST00000429174.2_Missense_Mutation_p.R744C|DYSF_ENST00000413539.2_Missense_Mutation_p.R775C|DYSF_ENST00000410020.3_Missense_Mutation_p.R762C|DYSF_ENST00000410041.1_Missense_Mutation_p.R762C|DYSF_ENST00000409762.1_Missense_Mutation_p.R761C|DYSF_ENST00000409744.1_Missense_Mutation_p.R731C|DYSF_ENST00000409582.3_Missense_Mutation_p.R761C|DYSF_ENST00000394120.2_Missense_Mutation_p.R745C	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	744						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						GTACCAGCTGCGCACCCATCA	0.627000													7	68					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109617881	109617881	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr12:109617881G>A	ENST00000338432.7	+	11	1926	c.1807G>A	c.(1807-1809)Gcc>Acc	p.A603T	ACACB_ENST00000377854.5_Missense_Mutation_p.A603T|ACACB_ENST00000377848.3_Missense_Mutation_p.A603T			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	603	ATP-grasp.|Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TCTGCCGGCCGCCCAGCTACA	0.562000													12	58					0	0	1	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659809	24659809	+	RNA	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr22:24659809G>A	ENST00000414583.2	+	0	3334					NR_003714.1																						CCCTATCTGCGCACCCGGAGG	0.612000													4	7					0	0	1	0	0
AP2B1	163	broad.mit.edu	37	17	33997895	33997895	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr17:33997895G>A	ENST00000312678.8	+	15	2139	c.2009G>A	c.(2008-2010)gGg>gAg	p.G670E	AP2B1_ENST00000589344.1_Missense_Mutation_p.G670E|AP2B1_ENST00000538556.1_Intron|AP2B1_ENST00000262325.7_Intron|AP2B1_ENST00000592545.1_Missense_Mutation_p.G632E|AP2B1_ENST00000537622.2_Missense_Mutation_p.G670E|AP2B1_ENST00000545922.2_3'UTR	NM_001030006.1	NP_001025177.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	663	Pro-rich (stalk region).				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		GACCTTGGCGGGGGCATTGGA	0.458000													4	134					0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56387406	56387406	+	Silent	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr17:56387406C>T	ENST00000355701.3	-	21	4683	c.3813G>A	c.(3811-3813)gaG>gaA	p.E1271E	BZRAP1_ENST00000268893.6_Silent_p.E1211E|BZRAP1_ENST00000343736.4_Silent_p.E1271E	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1271	Poly-Glu.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					Gctcctcttcctcctcctcct	0.592000													4	96					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152284667	152284667	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr1:152284667C>G	ENST00000368799.1	-	3	2730	c.2695G>C	c.(2695-2697)Gag>Cag	p.E899Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	899	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATTGTTCCTCATTACGTGTT	0.562000									Ichthyosis				214	455					0	0	1	0	0
CLMN	79789	broad.mit.edu	37	14	95669476	95669476	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr14:95669476G>T	ENST00000298912.4	-	9	2323	c.2210C>A	c.(2209-2211)gCt>gAt	p.A737D		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	737						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		CAAAACTGCAGCCAGGGGAAC	0.517000													12	45					7.03913e-09	7.87546e-09	1	1	0
RTN4	57142	broad.mit.edu	37	2	55254006	55254006	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr2:55254006C>T	ENST00000337526.6	-	3	1472	c.1229G>A	c.(1228-1230)gGt>gAt	p.G410D	RTN4_ENST00000404909.1_Missense_Mutation_p.G204D|RTN4_ENST00000405240.1_Missense_Mutation_p.G204D|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000394611.2_Missense_Mutation_p.G204D|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000357376.3_Missense_Mutation_p.G204D|RTN4_ENST00000354474.6_Missense_Mutation_p.G178D|RTN4_ENST00000317610.7_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	410					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						CTCGATTTTACCTCCAGCAGC	0.388000													7	244					0	0	1	0	0
BCRP7	100133163	broad.mit.edu	37	22	18844888	18844888	+	RNA	SNP	A	A	G			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr22:18844888A>G	ENST00000412938.1	+	0	3138																											GCTCACGGAAATACAGCTTCA	0.587000													5	52					0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97821149	97821149	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr7:97821149G>A	ENST00000297293.5	+	11	1665	c.1372G>A	c.(1372-1374)Gaa>Aaa	p.E458K		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	458					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)					GCTGGGTCGTGAAATGGAGGA	0.582000													17	69					0	0	1	0	0
NME7	29922	broad.mit.edu	37	1	169200024	169200024	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr1:169200024C>T	ENST00000367811.3	-	10	1178	c.922G>A	c.(922-924)Gta>Ata	p.V308I	NME7_ENST00000472647.1_Missense_Mutation_p.V272I	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN	NME/NM23 family member 7	308					CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					TCCATTGCTACACAAGGGCCA	0.308000													14	25					0	0	1	0	0
GATA2	2624	broad.mit.edu	37	3	128200786	128200786	+	Splice_Site	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr3:128200786G>A	ENST00000341105.2	-	5	1350	c.1017_splice	c.e5-1	p.S340_splice	GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000487848.1_Splice_Site_p.S340_splice|GATA2_ENST00000430265.2_Intron	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	340					blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		TCTGGCGGCCGACTGGGAGGG	0.657000			Mis		AML(CML blast transformation)								8	59					0	0	1	0	0
SEPHS1	22929	broad.mit.edu	37	10	13361156	13361156	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr10:13361156C>T	ENST00000327347.5	-	9	1540	c.1165G>A	c.(1165-1167)Ggg>Agg	p.G389R	SEPHS1_ENST00000378614.4_Missense_Mutation_p.G318R|SEPHS1_ENST00000545675.1_3'UTR|SEPHS1_ENST00000537130.1_Missense_Mutation_p.G322R	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	P49903	SPS1_HUMAN	selenophosphate synthetase 1	389				PQVATQNVNPTPGATS -> HKWPLKT (in Ref. 1; AAA87567).	protein modification process		ATP binding|GTP binding|selenide, water dikinase activity			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						GAGGTGGCCCCGGGTGTGGGA	0.418000													4	230					0	0	1	0	0
IRX6	79190	broad.mit.edu	37	16	55363084	55363084	+	Silent	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr16:55363084C>T	ENST00000290552.7	+	5	2526	c.1194C>T	c.(1192-1194)tcC>tcT	p.S398S	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	398						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CCAGAGACTCCGCGTGCGACG	0.647000													4	84					0	0	1	0	0
PUF60	22827	broad.mit.edu	37	8	144899920	144899920	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr8:144899920C>A	ENST00000526683.1	-	9	1405	c.850G>T	c.(850-852)Gtg>Ttg	p.V284L	PUF60_ENST00000456095.2_Missense_Mutation_p.V255L|PUF60_ENST00000349157.6_Missense_Mutation_p.V267L|PUF60_ENST00000313352.7_Missense_Mutation_p.V224L|PUF60_ENST00000453551.2_Missense_Mutation_p.V241L|PUF60_ENST00000524570.1_5'UTR|PUF60_ENST00000527197.1_Missense_Mutation_p.V238L	NM_001271098.1|NM_078480.1	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa	284	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.|RRM 2.				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			ATGGAAGACACAGCATCTTGG	0.647000													4	34					0.150653	0.150653	1	1	0
PJA1	64219	broad.mit.edu	37	X	68381791	68381791	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chrX:68381791C>T	ENST00000361478.1	-	2	1668	c.1291G>A	c.(1291-1293)Gcc>Acc	p.A431T	PJA1_ENST00000374571.4_Missense_Mutation_p.A376T|PJA1_ENST00000374584.3_Missense_Mutation_p.A243T|PJA1_ENST00000374583.1_Missense_Mutation_p.A431T	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	431							zinc ion binding			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						CCAGCACTGGCCCCGGCGCCA	0.602000													33	109					0	0	1	0	0
BRD8	10902	broad.mit.edu	37	5	137501542	137501542	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr5:137501542T>C	ENST00000254900.5	-	11	1624	c.1253A>G	c.(1252-1254)gAc>gGc	p.D418G	BRD8_ENST00000230901.5_Missense_Mutation_p.D491G|BRD8_ENST00000455658.2_Missense_Mutation_p.D377G|BRD8_ENST00000411594.2_Missense_Mutation_p.D421G|BRD8_ENST00000402931.1_Missense_Mutation_p.D418G	NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	418					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGCAATGATGTCTCCAACAGT	0.463000													15	78					0	0	1	0	0
RFFL	117584	broad.mit.edu	37	17	33341759	33341759	+	Splice_Site	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr17:33341759C>T	ENST00000315249.7	-	6	1132	c.910_splice	c.e6+1	p.G304_splice	RFFL_ENST00000584655.1_Intron|RFFL_ENST00000447669.2_Splice_Site_p.G304_splice|RFFL_ENST00000415395.2_Splice_Site_p.G304_splice|RFFL_ENST00000394597.2_Splice_Site_p.G304_splice|RFFL_ENST00000378516.2_Intron|RFFL_ENST00000268850.7_Intron|RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000413582.2_Intron			Q8WZ73	RFFL_HUMAN	ring finger and FYVE-like domain containing E3 ubiquitin protein ligase	304					apoptosis	membrane	ligase activity|zinc ion binding			kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		AACTACATACCGTTTTGGTCT	0.438000													4	120					0	0	1	0	0
NAF1	92345	broad.mit.edu	37	4	164061530	164061530	+	Silent	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr4:164061530G>A	ENST00000274054.2	-	5	916	c.723C>T	c.(721-723)ttC>ttT	p.F241F	NAF1_ENST00000422287.2_Silent_p.F241F	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	241					rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				CAAATATCTCGAATATCTGTA	0.303000													4	63					0	0	1	0	0
TOR3A	64222	broad.mit.edu	37	1	179055002	179055002	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr1:179055002C>A	ENST00000367627.3	+	3	1365	c.613C>A	c.(613-615)Cac>Aac	p.H205N	TOR3A_ENST00000495145.1_3'UTR|TOR3A_ENST00000352445.6_Missense_Mutation_p.H205N	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	205					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum	ATP binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						CCACTTTCCTCACCCCAAATA	0.587000													30	31					1.39806e-14	1.62031e-14	1	1	0
KIAA1009	22832	broad.mit.edu	37	6	84913764	84913764	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr6:84913764T>C	ENST00000403245.3	-	7	736	c.622A>G	c.(622-624)Act>Gct	p.T208A	KIAA1009_ENST00000257766.4_Missense_Mutation_p.T132A	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	208					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TCATCTTTAGTAGTCAACGGT	0.308000													3	64					0	0	1	0	0
PNPLA4	8228	broad.mit.edu	37	X	7889801	7889801	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chrX:7889801C>A	ENST00000381042.4	-	4	534	c.364G>T	c.(364-366)Gaa>Taa	p.E122*	PNPLA4_ENST00000537427.1_Nonsense_Mutation_p.E35*|PNPLA4_ENST00000444736.1_Nonsense_Mutation_p.E122*	NM_004650.2	NP_004641.1	P41247	PLPL4_HUMAN	patatin-like phospholipase domain containing 4	122	Patatin.				lipid catabolic process		triglyceride lipase activity			kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)				AAGTGATTTTCTCTGGTTTTG	0.458000													22	70					1.50039e-11	1.70396e-11	1	1	0
LRRC42	115353	broad.mit.edu	37	1	54426145	54426145	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr1:54426145C>T	ENST00000371370.3	+	5	1243	c.722C>T	c.(721-723)tCa>tTa	p.S241L	LRRC42_ENST00000319223.4_Missense_Mutation_p.S241L	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	241										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						TTAGACTTATCATGTAAGTTT	0.363000													34	41					0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126708286	126708286	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr3:126708286C>T	ENST00000251772.4	+	1	850	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W	PLXNA1_ENST00000393409.2_Missense_Mutation_p.R284W			Q9UIW2	PLXA1_HUMAN	plexin A1	284	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CAAGATCGTGCGGCTCTGTGT	0.602000													5	221					0	0	1	0	0
GRIPAP1	56850	broad.mit.edu	37	X	48846087	48846087	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chrX:48846087G>C	ENST00000376423.4	-	10	679	c.647C>G	c.(646-648)gCt>gGt	p.A216G	GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376425.3_Missense_Mutation_p.A269G|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.A224G|GRIPAP1_ENST00000376441.1_Missense_Mutation_p.A269G	NM_207672.1	NP_997555.1	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	269						early endosome				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						TTTGTGATCAGCTTCCTTCCG	0.557000													20	101					0	0	1	0	0
RSU1	6251	broad.mit.edu	37	10	16794653	16794653	+	Splice_Site	SNP	C	C	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr10:16794653C>A	ENST00000377921.3	-	6	785		c.e6-1		RSU1_ENST00000464074.2_Splice_Site|RSU1_ENST00000602389.1_Splice_Site|RSU1_ENST00000345264.5_Splice_Site			Q15404	RSU1_HUMAN	Ras suppressor protein 1						cell junction assembly|signal transduction	cytosol	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(1;7.54e-08)		TAAGGCTGAGCTAAACAGAAG	0.458000													6	70					5.9392e-07	6.51582e-07	1	1	0
FAM71B	153745	broad.mit.edu	37	5	156593128	156593128	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr5:156593128T>C	ENST00000302938.4	-	1	147	c.52A>G	c.(52-54)Atg>Gtg	p.M18V		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	18						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AACGCACTCATTGAAGAGTAG	0.438000													26	88					0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45402885	45402885	+	Silent	SNP	C	C	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr15:45402885C>A	ENST00000389039.6	-	8	1291	c.906G>T	c.(904-906)ctG>ctT	p.L302L	DUOX2_ENST00000603300.1_Silent_p.L302L			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	302	Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GGAAGCTGGGCAGCCACTCAT	0.617000													11	50					1.08611e-07	1.20324e-07	1	1	0
ELAVL1	1994	broad.mit.edu	37	19	8045975	8045975	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr19:8045975T>G	ENST00000407627.2	-	3	397	c.268A>C	c.(268-270)Acc>Ccc	p.T90P	ELAVL1_ENST00000596459.1_Missense_Mutation_p.T90P|ELAVL1_ENST00000593807.1_Missense_Mutation_p.T90P|ELAVL1_ENST00000351593.5_Missense_Mutation_p.T117P	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	90	RRM 1.				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						ACCTTAATGGTTTTTGACTGG	0.562000													11	48					0	0	1	0	0
CEP120	153241	broad.mit.edu	37	5	122718571	122718571	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr5:122718571C>T	ENST00000306467.5	-	13	2177	c.1873G>A	c.(1873-1875)Gta>Ata	p.V625I	CEP120_ENST00000328236.5_Missense_Mutation_p.V625I|CEP120_ENST00000306481.6_Missense_Mutation_p.V599I			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	625						centrosome				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						TTTTGCTGTACGGCAGATACA	0.393000													12	41					0	0	1	0	0
FN3KRP	79672	broad.mit.edu	37	17	80680718	80680718	+	Missense_Mutation	SNP	C	C	T	rs144422621		TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr17:80680718C>T	ENST00000269373.6	+	4	497	c.424C>T	c.(424-426)Cgg>Tgg	p.R142W	FN3KRP_ENST00000535965.1_Missense_Mutation_p.R92W	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	142							kinase activity			breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			CTTTGTGGCCCGGTTTGGATT	0.537000													12	50					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237729889	237729889	+	Silent	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr1:237729889C>T	ENST00000366574.2	+	28	3554	c.3237C>T	c.(3235-3237)agC>agT	p.S1079S	RYR2_ENST00000360064.6_Silent_p.S1077S|RYR2_ENST00000542537.1_Silent_p.S1063S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1079	4 X approximate repeats.|B30.2/SPRY 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAGTGTGCAGCGGCACCGGGG	0.502000													22	42					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49434415	49434415	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr12:49434415G>A	ENST00000301067.7	-	31	7137	c.7138C>T	c.(7138-7140)Cag>Tag	p.Q2380*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.Q2110*(1)|p.Q2380*(1)									AATGGGGGCTGAGCATATGGG	0.652000													13	58					0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121411412	121411412	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr3:121411412G>A	ENST00000393667.3	-	14	6909	c.6799C>T	c.(6799-6801)Cag>Tag	p.Q2267*	GOLGB1_ENST00000340645.5_Nonsense_Mutation_p.Q2262*	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2262					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)		TCCCAAATCTGCTTGTCATGT	0.423000													9	62					0	0	1	0	0
DDX47	51202	broad.mit.edu	37	12	12974938	12974938	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr12:12974938A>G	ENST00000358007.3	+	5	504	c.482A>G	c.(481-483)aAa>aGa	p.K161R	RP11-59H1.3_ENST00000534843.1_3'UTR|DDX47_ENST00000352940.4_Missense_Mutation_p.K161R	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	161	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		GAAAATACGAAAGGTTTCAAC	0.403000													13	52					0	0	1	0	0
GPRIN2	9721	broad.mit.edu	37	10	46998915	46998915	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr10:46998915C>A	ENST00000374314.4	+	1	990	c.35C>A	c.(34-36)gCa>gAa	p.A12E	GPRIN2_ENST00000374317.1_Missense_Mutation_p.A12E			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	12										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GGTCCCTGGGCACCCCTGAGC	0.662000													15	202					1.56452e-12	1.79483e-12	1	1	0
AMER1	139285	broad.mit.edu	37	X	63413165	63413165	+	Translation_Start_Site	SNP	A	A	G			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chrX:63413165A>G	ENST00000330258.3	-	2	274	c.2T>C	c.(1-3)aTg>aCg	p.M1T	AMER1_ENST00000374869.3_Start_Codon_SNP_p.M1T|AMER1_ENST00000403336.1_Start_Codon_SNP_p.M1T	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									TTGGGTCTCCATGATGATGGG	0.527000													4	91					0	0	1	0	0
TECPR1	25851	broad.mit.edu	37	7	97873901	97873901	+	Silent	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr7:97873901G>A	ENST00000447648.2	-	5	812	c.513C>T	c.(511-513)tcC>tcT	p.S171S	TECPR1_ENST00000542604.1_Silent_p.S92S|TECPR1_ENST00000379795.3_Silent_p.S171S			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	171						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGATGTCCCGGGACTTGTATC	0.582000													13	63					0	0	1	0	0
MAGEB4	4115	broad.mit.edu	37	X	30260337	30260337	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chrX:30260337C>T	ENST00000378982.2	+	1	281	c.85C>T	c.(85-87)Cag>Tag	p.Q29*		NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	29										breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						CAAGGTTGGTCAGCCTACTGC	0.567000													6	39					0	0	1	0	0
OAF	220323	broad.mit.edu	37	11	120099625	120099625	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr11:120099625C>T	ENST00000328965.4	+	4	1109	c.596C>T	c.(595-597)gCg>gTg	p.A199V	OAF_ENST00000531220.1_Missense_Mutation_p.A83V	NM_178507.2	NP_848602.1	Q86UD1	OAF_HUMAN	OAF homolog (Drosophila)	199										kidney(1)|lung(5)	6		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		TCAGAGCAGGCGGAGCTGCCT	0.662000													5	52					0	0	1	0	0
MYOD1	4654	broad.mit.edu	37	11	17741781	17741781	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr11:17741781G>A	ENST00000250003.3	+	1	667	c.452G>A	c.(451-453)cGc>cAc	p.R151H		NM_002478.4	NP_002469.2	P15172	MYOD1_HUMAN	myogenic differentiation 1	151	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development	nuclear chromatin|transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	17						GAGATCCTGCGCAACGCCATC	0.667000													8	19					0	0	1	0	0
MTM1	4534	broad.mit.edu	37	X	149807467	149807467	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chrX:149807467G>T	ENST00000370396.2	+	7	550	c.496G>T	c.(496-498)Gtt>Ttt	p.V166F	MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000413012.2_Missense_Mutation_p.V129F|MTM1_ENST00000542741.1_Missense_Mutation_p.V71F|MTM1_ENST00000543350.1_Missense_Mutation_p.V51F	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	166	Myotubularin phosphatase.				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	p.V166I(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					TGGATGGACAGTTTACAATCC	0.363000													4	206					0.0215528	0.0217452	1	1	0
CYP27A1	1593	broad.mit.edu	37	2	219674325	219674325	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr2:219674325C>T	ENST00000258415.4	+	2	708	c.281C>T	c.(280-282)cCa>cTa	p.P94L		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	94					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	AAGTACGGTCCAATGTGGATG	0.557000													32	57					0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111078162	111078162	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chrX:111078162T>C	ENST00000262839.2	-	7	2801	c.1883A>G	c.(1882-1884)tAt>tGt	p.Y628C		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	628					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AATAAGCTGATAGGAGTTGTT	0.438000													8	236					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100133446	100133446	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr8:100133446C>T	ENST00000395996.1	+	8	1090	c.979C>T	c.(979-981)Cag>Tag	p.Q327*	VPS13B_ENST00000358544.2_Nonsense_Mutation_p.Q327*|VPS13B_ENST00000357162.2_Nonsense_Mutation_p.Q327*|VPS13B_ENST00000441350.2_Nonsense_Mutation_p.Q327*|VPS13B_ENST00000355155.1_Nonsense_Mutation_p.Q327*			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	327					protein transport			p.Q327*(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATATCCTGCTCAGCATAAAGG	0.373000													5	40					0	0	1	0	0
RAP1B	5908	broad.mit.edu	37	12	69042539	69042539	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr12:69042539G>A	ENST00000250559.9	+	2	266	c.35G>A	c.(34-36)gGa>gAa	p.G12E	RAP1B_ENST00000537460.1_Missense_Mutation_p.G12E|RAP1B_ENST00000341355.5_Missense_Mutation_p.G12E|RAP1B_ENST00000543697.1_Missense_Mutation_p.G12E|RAP1B_ENST00000543393.1_Intron|RAP1B_ENST00000542145.1_Missense_Mutation_p.G12E|RAP1B_ENST00000541216.1_Missense_Mutation_p.G12E|RAP1B_ENST00000393436.5_Missense_Mutation_p.G12E|RAP1B_ENST00000378985.3_Intron|RAP1B_ENST00000450214.2_Missense_Mutation_p.G12E|RAP1B_ENST00000463493.1_Intron|RAP1B_ENST00000539091.1_Missense_Mutation_p.G12E|RAP1B_ENST00000540209.1_Missense_Mutation_p.G12E	NM_001010942.2|NM_001251921.1|NM_001251922.1|NM_015646.5	NP_001010942.1|NP_001238850.1|NP_001238851.1|NP_056461.1	P61224	RAP1B_HUMAN	RAP1B, member of RAS oncogene family	12					blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion	cell-cell junction|cytosol	GDP binding|GTP binding|GTPase activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2)	12	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)		CTTGGCTCAGGAGGCGTTGGA	0.363000													8	29					0	0	1	0	0
SMC2	10592	broad.mit.edu	37	9	106864325	106864325	+	Silent	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr9:106864325C>T	ENST00000286398.7	+	8	1009	c.721C>T	c.(721-723)Ctg>Ttg	p.L241L	SMC2_ENST00000374793.3_Silent_p.L241L|SMC2_ENST00000374787.3_Silent_p.L241L|SMC2_ENST00000303219.8_Silent_p.L241L	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	241					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						TCAGTTTTTGCTGGCTGAAGA	0.333000													4	100					0	0	1	0	0
TSSK1B	83942	broad.mit.edu	37	5	112769745	112769745	+	Silent	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr5:112769745G>A	ENST00000390666.3	-	1	983	c.792C>T	c.(790-792)gaC>gaT	p.D264D	MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000416046.2_RNA|CTD-2201G3.1_ENST00000383058.4_RNA	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	264	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		TGAGGATCTCGTCGATGTGGA	0.617000													10	41					0	0	1	0	0
KDM3B	51780	broad.mit.edu	37	5	137766020	137766020	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr5:137766020G>A	ENST00000314358.5	+	22	5176	c.4976G>A	c.(4975-4977)cGt>cAt	p.R1659H	KDM3B_ENST00000542866.1_Missense_Mutation_p.R691H|KDM3B_ENST00000394866.1_Missense_Mutation_p.R1315H	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1659	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CAGACCCTCCGTAAGCGACTC	0.517000													28	131					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89400811	89400811	+	Silent	SNP	A	A	G			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr15:89400811A>G	ENST00000439576.2	+	12	5369	c.4995A>G	c.(4993-4995)acA>acG	p.T1665T	ACAN_ENST00000561243.1_Silent_p.T1665T|ACAN_ENST00000352105.7_Silent_p.T1665T|ACAN_ENST00000559004.1_Silent_p.T1665T	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1665					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TGGATTCTACATTGGTGGAAG	0.537000													32	162					0	0	1	0	0
ZNF324	25799	broad.mit.edu	37	19	58982600	58982600	+	Silent	SNP	C	C	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr19:58982600C>A	ENST00000536459.2	+	4	1450	c.741C>A	c.(739-741)ggC>ggA	p.G247G	ZNF324_ENST00000535298.1_Silent_p.G24G|ZNF324_ENST00000196482.3_Silent_p.G247G			O75467	Z324A_HUMAN	zinc finger protein 324	247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		ACGAGCTGGGCGAGGCTCTTC	0.637000													14	36					9.05144e-12	1.03314e-11	1	1	0
MAGEB3	4114	broad.mit.edu	37	X	30254196	30254196	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chrX:30254196A>C	ENST00000361644.2	+	5	892	c.155A>C	c.(154-156)aAa>aCa	p.K52T	MAGEB3_ENST00000378986.1_Missense_Mutation_p.K52T	NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	52										NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						ACTATCCAGAAAAAGTCTGCT	0.458000													5	36					0	0	1	0	0
SLC6A7	6534	broad.mit.edu	37	5	149576667	149576667	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr5:149576667G>T	ENST00000230671.2	+	4	783	c.412G>T	c.(412-414)Gcc>Tcc	p.A138S	SLC6A7_ENST00000524041.1_Missense_Mutation_p.A138S	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	138						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	CATGATCATCGCCTACGTGCT	0.617000													7	54					2.0095e-06	2.17295e-06	1	1	0
DDX47	51202	broad.mit.edu	37	12	12977529	12977529	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr12:12977529T>C	ENST00000358007.3	+	9	975	c.953T>C	c.(952-954)cTa>cCa	p.L318P	RP11-59H1.3_ENST00000534843.1_3'UTR|DDX47_ENST00000352940.4_Missense_Mutation_p.L269P	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	318	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		TCCATTCTTCTAGCAACTGAC	0.428000													15	55					0	0	1	0	0
AKAP8L	26993	broad.mit.edu	37	19	15512056	15512056	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr19:15512056C>A	ENST00000397410.4	-	5	785	c.721G>T	c.(721-723)Gcc>Tcc	p.A241S	AKAP8L_ENST00000595465.1_Missense_Mutation_p.A180S|AKAP8L_ENST00000595136.1_5'UTR	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	241						cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						CCCGGGAAGGCGCCCCCACCT	0.642000													42	247					8.20599e-20	9.65913e-20	1	1	0
PSG11	5680	broad.mit.edu	37	19	43528980	43528980	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr19:43528980C>T	ENST00000401740.1	-	2	396	c.293G>A	c.(292-294)cGa>cAa	p.R98Q	PSG11_ENST00000403486.1_Intron|PSG11_ENST00000320078.7_Missense_Mutation_p.R98Q|PSG11_ENST00000306322.7_Intron			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	98	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				TACTGTTTCTCGTCCACTGTA	0.448000													68	259					0	0	1	0	0
IQSEC1	9922	broad.mit.edu	37	3	12977263	12977263	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr3:12977263C>T	ENST00000273221.4	-	3	1511	c.1295G>A	c.(1294-1296)cGg>cAg	p.R432Q		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	432					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGGCTCCTCCCGGGGGAGGCT	0.682000													5	22					0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105152868	105152868	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chrX:105152868C>A	ENST00000428173.2	+	13	1541	c.1238C>A	c.(1237-1239)gCa>gAa	p.A413E	NRK_ENST00000243300.9_Missense_Mutation_p.A412E			Q7Z2Y5	NRK_HUMAN	Nik related kinase	412	Gln-rich.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CTACAGGGAGCAGCCAGGGTA	0.592000										HNSCC(51;0.14)			13	74					4.36969e-10	4.91318e-10	1	1	0
FN3KRP	79672	broad.mit.edu	37	17	80685036	80685036	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr17:80685036C>A	ENST00000269373.6	+	6	992	c.919C>A	c.(919-921)Ctg>Atg	p.L307M	FN3KRP_ENST00000535965.1_Missense_Mutation_p.L257M	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	307							kinase activity			breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			CATGAGGAATCTGGTCAAGTG	0.493000													12	88					0.0135373	0.0137194	1	1	0
PLXNA3	55558	broad.mit.edu	37	X	153696270	153696270	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chrX:153696270C>T	ENST00000369682.3	+	21	3921	c.3746C>T	c.(3745-3747)gCg>gTg	p.A1249V		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	1249					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACTCAGGACGCGGACCGTACC	0.672000													8	75					0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480924	140480924	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr5:140480924C>A	ENST00000231130.2	+	1	691	c.691C>A	c.(691-693)Cag>Aag	p.Q231K	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		231	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GATAAACATCCAGGTCTTAGA	0.537000													7	115					8.12818e-05	8.54404e-05	1	1	0
PCDHGA5	56110	broad.mit.edu	37	5	140745676	140745676	+	Silent	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr5:140745676G>A	ENST00000518069.1	+	1	1779	c.1779G>A	c.(1777-1779)gcG>gcA	p.A593A	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGGTAGCGGTGGACAAAG	0.652000													32	146					0	0	1	0	0
NEK5	341676	broad.mit.edu	37	13	52646189	52646189	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr13:52646189A>C	ENST00000355568.4	-	21	1954	c.1815T>G	c.(1813-1815)aaT>aaG	p.N605K		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	605							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		TCAAAGTTTCATTTGGTATAT	0.328000													5	21					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130284217	130284217	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr3:130284217C>A	ENST00000358511.6	+	3	1072	c.1041C>A	c.(1039-1041)aaC>aaA	p.N347K	COL6A6_ENST00000453409.2_Missense_Mutation_p.N347K	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	347	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CAGAAGACAACGTGACAAAAG	0.557000													34	219					2.87052e-16	3.34401e-16	1	1	0
TIE1	7075	broad.mit.edu	37	1	43772858	43772858	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr1:43772858C>A	ENST00000372476.3	+	5	765	c.686C>A	c.(685-687)cCa>cAa	p.P229Q	TIE1_ENST00000441333.2_Missense_Mutation_p.P229Q|TIE1_ENST00000538015.1_Missense_Mutation_p.P229Q	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	229	EGF-like 1.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.P229Q(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AAGGAGTGCCCAGGTTGCCTA	0.632000													40	66					1.59361e-14	1.83753e-14	1	1	0
CAD	790	broad.mit.edu	37	2	27459689	27459689	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr2:27459689C>T	ENST00000264705.4	+	27	4549	c.4387C>T	c.(4387-4389)Cga>Tga	p.R1463*	CAD_ENST00000403525.1_Nonsense_Mutation_p.R1400*	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1463	DHOase (dihydroorotase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	p.R1463*(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	AAAGCTTGTGCGACTGCCGGG	0.572000													4	162					0	0	1	0	0
A2M	2	broad.mit.edu	37	12	9229471	9229471	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr12:9229471C>T	ENST00000318602.7	-	28	3720	c.3413G>A	c.(3412-3414)gGg>gAg	p.G1138E		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1138					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	GCCATGGTCCCCTTCTTGTGC	0.498000													30	104					0	0	1	0	0
KIAA1468	57614	broad.mit.edu	37	18	59972701	59972701	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr18:59972701G>C	ENST00000256858.6	+	30	3935	c.3687G>C	c.(3685-3687)ttG>ttC	p.L1229F	KIAA1468_ENST00000398130.2_Missense_Mutation_p.L1195F			Q9P260	K1468_HUMAN	KIAA1468	1195							binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				CCAAGTTTTTGAACAAAATGG	0.358000													25	128					0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7399626	7399626	+	Silent	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr17:7399626C>T	ENST00000322644.6	+	3	723	c.324C>T	c.(322-324)cgC>cgT	p.R108R	POLR2A_ENST00000572844.1_Silent_p.R108R	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	108					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				AAGTTTTGCGCTGTGTCTGCT	0.562000													30	163					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2159044	2159044	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr16:2159044C>T	ENST00000262304.4	-	15	6332	c.6124G>A	c.(6124-6126)Gcc>Acc	p.A2042T	PKD1_ENST00000423118.1_Missense_Mutation_p.A2042T	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2042	PKD 16.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCGTTGAAGGCGCGCACCTGG	0.682000													3	19					0	0	1	0	0
KLF10	7071	broad.mit.edu	37	8	103664140	103664140	+	Silent	SNP	G	G	A	rs147912564		TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr8:103664140G>A	ENST00000395884.3	-	3	1289	c.387C>T	c.(385-387)agC>agT	p.S129S	KLF10_ENST00000285407.6_Silent_p.S140S	NM_001032282.2	NP_001027453.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	140					cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			CAGATACTGGGCTCTTTTCTT	0.498000											OREG0018913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	56	105					0	0	1	0	0
ASAP3	55616	broad.mit.edu	37	1	23759684	23759684	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr1:23759684C>T	ENST00000336689.3	-	22	2253	c.2209G>A	c.(2209-2211)Gcc>Acc	p.A737T	ASAP3_ENST00000437606.2_Missense_Mutation_p.A728T|ASAP3_ENST00000484906.1_5'UTR|ASAP3_ENST00000495646.1_Missense_Mutation_p.A241T	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	737					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						CCCAGGCTGGCGACAGTCTCA	0.607000													4	122					0	0	1	0	0
CRYGS	1427	broad.mit.edu	37	3	186257301	186257301	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr3:186257301C>T	ENST00000392499.2	-	3	446	c.107G>A	c.(106-108)cGc>cAc	p.R36H	CRYGS_ENST00000307944.5_Missense_Mutation_p.R36H	NM_017541.2	NP_060011.1	P22914	CRBS_HUMAN	crystallin, gamma S	36	Beta/gamma crystallin 'Greek key' 1.						structural constituent of eye lens			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	11	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)		GGAGTTGCAGCGACTTAGGTA	0.463000													14	75					0	0	1	0	0
ZNF449	203523	broad.mit.edu	37	X	134481370	134481370	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chrX:134481370G>C	ENST00000339249.4	+	2	467	c.327G>C	c.(325-327)caG>caC	p.Q109H	ZNF449_ENST00000370760.3_Missense_Mutation_p.Q109H|ZNF449_ENST00000370761.3_Missense_Mutation_p.Q109H	NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	109	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AAGACTTACAGAGAGAACTTG	0.473000													9	55					0	0	1	0	0
MIA3	375056	broad.mit.edu	37	1	222802715	222802715	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr1:222802715C>G	ENST00000344922.5	+	4	2178	c.2153C>G	c.(2152-2154)tCt>tGt	p.S718C	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Missense_Mutation_p.S718C	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	718					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GCTTTCCTTTCTAAAGTAGAA	0.443000													9	117					0	0	1	0	0
ZACN	353174	broad.mit.edu	37	17	74076046	74076046	+	Silent	SNP	C	C	G			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr17:74076046C>G	ENST00000334586.5	+	4	428	c.345C>G	c.(343-345)ctC>ctG	p.L115L	ZACN_ENST00000392503.2_Intron	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	115					response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						GGGAGTCTCTCTGGACACCAA	0.607000													3	10					0	0	1	0	0
JPH1	56704	broad.mit.edu	37	8	75157339	75157339	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr8:75157339C>A	ENST00000342232.4	-	4	1370	c.1330G>T	c.(1330-1332)Gaa>Taa	p.E444*		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	444					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GGTGGCTTTTCTGGTACCTTT	0.443000													22	101					2.32416e-17	2.72155e-17	1	1	0
DAB2IP	153090	broad.mit.edu	37	9	124526081	124526081	+	Silent	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr9:124526081C>T	ENST00000408936.3	+	8	1565	c.1383C>T	c.(1381-1383)gcC>gcT	p.A461A	DAB2IP_ENST00000259371.2_Silent_p.A433A|DAB2IP_ENST00000309989.1_Silent_p.A337A			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	461	Ras-GAP.				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						AGTGCTCGGCCGCTGACCTCC	0.577000													33	66					0	0	1	0	0
SLC12A9	56996	broad.mit.edu	37	7	100452263	100452263	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr7:100452263G>T	ENST00000354161.3	+	3	328	c.203G>T	c.(202-204)gGg>gTg	p.G68V	SLC12A9_ENST00000415287.1_Intron|SLC12A9_ENST00000275729.3_Intron|SLC12A9_ENST00000428758.1_Missense_Mutation_p.G68V|SLC12A9_ENST00000540482.1_Missense_Mutation_p.G68V	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	68						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGTCATGCTGGGCTACTGCAG	0.627000													17	77					2.23348e-06	2.40365e-06	1	1	0
NIPAL4	348938	broad.mit.edu	37	5	156899532	156899532	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr5:156899532G>A	ENST00000311946.7	+	6	1081	c.965G>A	c.(964-966)cGg>cAg	p.R322Q	NIPAL4_ENST00000435489.2_Missense_Mutation_p.R303Q|ADAM19_ENST00000430702.2_Intron	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	322						integral to membrane	receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						CCAGTTGTCCGGCACCCGCTC	0.562000											OREG0016979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	169					0	0	1	0	0
ABCA1	19	broad.mit.edu	37	9	107591253	107591253	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr9:107591253T>C	ENST00000374736.3	-	15	2453	c.2059A>G	c.(2059-2061)Att>Gtt	p.I687V	ABCA1_ENST00000494467.1_5'UTR	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	687					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGGCTACTAATGAACCAGCTA	0.532000													22	47					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49698235	49698235	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr3:49698235G>A	ENST00000296452.4	+	6	9071	c.8957G>A	c.(8956-8958)cGc>cAc	p.R2986H		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2986					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		ATCACACAACGCAAAGAGTCT	0.557000													15	33					0	0	1	0	0
PDGFB	5155	broad.mit.edu	37	22	39627811	39627811	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr22:39627811G>A	ENST00000331163.6	-	4	1059	c.272C>T	c.(271-273)cCg>cTg	p.P91L	PDGFB_ENST00000381551.4_Missense_Mutation_p.P76L	NM_002608.2	NP_002599.1	P01127	PDGFB_HUMAN	platelet-derived growth factor beta polypeptide	91					activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway	basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity		COL1A1/PDGFB(429)	central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Melanoma(58;0.04)				Becaplermin(DB00102)	GATCATGGCCGGCTCAGCAAT	0.652000			T	COL1A1	DFSP								9	22					0	0	1	0	0
THOC2	57187	broad.mit.edu	37	X	122799667	122799667	+	Silent	SNP	A	A	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chrX:122799667A>T	ENST00000245838.8	-	12	1243	c.1212T>A	c.(1210-1212)gcT>gcA	p.A404A	THOC2_ENST00000355725.4_Silent_p.A404A|THOC2_ENST00000491737.1_Silent_p.A289A	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	404					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GTGAGCCTTTAGCACCTTTAG	0.308000													24	114					0	0	1	0	0
WHSC1	7468	broad.mit.edu	37	4	1957799	1957799	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr4:1957799T>G	ENST00000382895.3	+	17	3196	c.2765T>G	c.(2764-2766)tTc>tGc	p.F922C	WHSC1_ENST00000382891.5_Missense_Mutation_p.F922C|WHSC1_ENST00000508803.1_Missense_Mutation_p.F922C|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Missense_Mutation_p.F270C|WHSC1_ENST00000382892.2_Missense_Mutation_p.F922C	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	922	PWWP 2.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		CCTGTGTTTTTCTTTGGGTCT	0.498000			T	IGH@	MM								70	395					0	0	1	0	0
MRPL19	9801	broad.mit.edu	37	2	75879657	75879657	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr2:75879657C>T	ENST00000393909.2	+	4	374	c.349C>T	c.(349-351)Ctt>Ttt	p.L117F	MRPL19_ENST00000358788.6_Missense_Mutation_p.L117F|MRPL19_ENST00000409374.1_Missense_Mutation_p.L117F	NM_014763.3	NP_055578.2	P49406	RM19_HUMAN	mitochondrial ribosomal protein L19	117					translation	mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome			kidney(1)|large_intestine(1)|lung(6)	8						AGGAAGTATTCTTCGTGTTAC	0.383000													4	105					0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46658193	46658193	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr22:46658193C>T	ENST00000253255.5	-	1	1026	c.1027G>A	c.(1027-1029)Gat>Aat	p.D343N		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	343	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ATGTTGGCATCGCCAAGCATC	0.572000													47	169					0	0	1	0	0
FBXW7	55294	broad.mit.edu	37	4	153249385	153249385	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr4:153249385G>A	ENST00000281708.4	-	9	2622	c.1393C>T	c.(1393-1395)Cgt>Tgt	p.R465C	FBXW7_ENST00000393956.3_Missense_Mutation_p.R289C|FBXW7_ENST00000263981.5_Missense_Mutation_p.R385C|FBXW7_ENST00000603548.1_Missense_Mutation_p.R465C|FBXW7_ENST00000296555.5_Missense_Mutation_p.R347C|FBXW7_ENST00000603841.1_Missense_Mutation_p.R465C	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	465			R -> C (in a acute lymphoblastic leukemia cell line).|R -> H (in a colorectal cancer sample; somatic mutation).		interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R465C(71)|p.R226C(11)|p.R385C(11)|p.R347C(3)|p.R465Y(2)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGCATACAACGCACAGTGGAA	0.413000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								32	154					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237893651	237893651	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr1:237893651T>A	ENST00000366574.2	+	77	11247	c.10930T>A	c.(10930-10932)Tta>Ata	p.L3644I	RYR2_ENST00000360064.6_Missense_Mutation_p.L3642I|RYR2_ENST00000542537.1_Missense_Mutation_p.L3628I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3644					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GATAGAAGATTTAGCAGTATG	0.388000													13	27					0	0	1	0	0
NOTCH2NL	388677	broad.mit.edu	37	1	145273243	145273243	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr1:145273243C>T	ENST00000369340.3	+	4	541	c.97C>T	c.(97-99)Cgc>Tgc	p.R33C	RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.R33C|NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.R33C|NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.R33C			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	33	EGF-like 2.				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						TGAGAAGAACCGCTGCCAGAA	0.532000													5	224					0	0	1	0	0
MAATS1	89876	broad.mit.edu	37	3	119426376	119426376	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr3:119426376G>T	ENST00000273390.5	+	3	404	c.327G>T	c.(325-327)gaG>gaT	p.E109D	MAATS1_ENST00000463700.1_Missense_Mutation_p.E109D	NM_033364.3	NP_203528.2			MYCBP-associated, testis expressed 1																		GACATAAGGAGAAACACAGAG	0.433000													4	36					0.00024832	0.000257433	1	1	0
ANKZF1	55139	broad.mit.edu	37	2	220100549	220100549	+	Silent	SNP	T	T	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr2:220100549T>A	ENST00000323348.5	+	12	2097	c.1923T>A	c.(1921-1923)cgT>cgA	p.R641R	ANKZF1_ENST00000410034.3_Silent_p.R641R|ANKZF1_ENST00000409849.1_Silent_p.R431R	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	641						intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGAGGAGCGTGAACGAGAAG	0.612000													5	178					0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50053263	50053263	+	Silent	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chrX:50053263G>A	ENST00000376042.1	+	6	2392	c.2094G>A	c.(2092-2094)gaG>gaA	p.E698E	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Silent_p.E698E			Q8WWL7	CCNB3_HUMAN	cyclin B3	698					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TCTTGCAAGAGAAGACTGATG	0.448000													10	43					0	0	1	0	0
GOLGA3	2802	broad.mit.edu	37	12	133373153	133373153	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr12:133373153G>A	ENST00000204726.3	-	10	2630	c.2072C>T	c.(2071-2073)gCg>gTg	p.A691V	GOLGA3_ENST00000537452.1_Missense_Mutation_p.A691V|GOLGA3_ENST00000456883.2_Missense_Mutation_p.A691V|GOLGA3_ENST00000545875.1_Missense_Mutation_p.A691V|GOLGA3_ENST00000450791.2_Missense_Mutation_p.A691V	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	691	Gln-rich.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CAGGGATGCCGCCGAGTCCGC	0.627000													30	251					0	0	1	0	0
ACOX2	8309	broad.mit.edu	37	3	58494664	58494664	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr3:58494664C>T	ENST00000302819.5	-	14	2230	c.1939G>A	c.(1939-1941)Gaa>Aaa	p.E647K	ACOX2_ENST00000481527.1_5'UTR|ACOX2_ENST00000459701.2_Missense_Mutation_p.E633K	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	647					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		AACAGGCGTTCGTAGACGTTT	0.433000													13	77					0	0	1	0	0
VAMP7	6845	broad.mit.edu	37	X	155169401	155169401	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chrX:155169401C>T	ENST00000286448.6	+	7	703	c.538C>T	c.(538-540)Cga>Tga	p.R180*	VAMP7_ENST00000479687.1_3'UTR|VAMP7_ENST00000262640.6_Missense_Mutation_p.S157L|VAMP7_ENST00000460621.1_Nonsense_Mutation_p.R139*	NM_001145149.2|NM_005638.5	NP_001138621.1|NP_005629.1	P51809	VAMP7_HUMAN	vesicle-associated membrane protein 7	180	v-SNARE coiled-coil homology.				calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding	p.R180R(1)|p.S157*(1)		large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AAATCTTGCTCGAGCCATGTG	0.378000													5	215					0	0	1	0	0
GPR6	2830	broad.mit.edu	37	6	110301323	110301323	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr6:110301323C>G	ENST00000414000.2	+	3	1292	c.1053C>G	c.(1051-1053)atC>atG	p.I351M	GPR6_ENST00000275169.3_Missense_Mutation_p.I336M			P46095	GPR6_HUMAN	G protein-coupled receptor 6	336						integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		ACCAGGAGATCCAGCGCGCCC	0.612000													36	160					0	0	1	0	0
RAD54L2	23132	broad.mit.edu	37	3	51679077	51679077	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr3:51679077C>T	ENST00000409535.1	+	16	2613	c.2488C>T	c.(2488-2490)Cga>Tga	p.R830*	RAD54L2_ENST00000296477.3_Nonsense_Mutation_p.R524*	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	830	Helicase C-terminal.					nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		TGGTGCCAACCGAGTGGTGGT	0.463000													10	69					0	0	1	0	0
KLHL32	114792	broad.mit.edu	37	6	97575321	97575321	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr6:97575321G>C	ENST00000369261.4	+	8	1759	c.1396G>C	c.(1396-1398)Gtg>Ctg	p.V466L	KLHL32_ENST00000544166.1_Missense_Mutation_p.V22L|KLHL32_ENST00000539200.1_Missense_Mutation_p.V397L|KLHL32_ENST00000536676.1_Missense_Mutation_p.V430L	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	466										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		CAGGCTAATGGTGTATGAACC	0.323000													23	97					0	0	1	0	0
PRKCG	5582	broad.mit.edu	37	19	54385779	54385779	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr19:54385779T>A	ENST00000263431.3	+	1	313	c.31T>A	c.(31-33)Tca>Aca	p.S11T	PRKCG_ENST00000536044.1_Missense_Mutation_p.S11T|PRKCG_ENST00000540413.1_Missense_Mutation_p.S11T	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	11					activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		CGTAGGCGATTCAGAGGGGGG	0.617000													47	188					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82586121	82586121	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr7:82586121G>T	ENST00000423517.2	-	5	4485	c.4148C>A	c.(4147-4149)aCt>aAt	p.T1383N	PCLO_ENST00000333891.8_Missense_Mutation_p.T1383N	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1314					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTTTTCATCAGTTGGAATAAG	0.443000													7	39					0.00198382	0.00203792	1	1	0
NXPH1	30010	broad.mit.edu	37	7	8791053	8791053	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr7:8791053C>A	ENST00000405863.1	+	3	1381	c.470C>A	c.(469-471)tCa>tAa	p.S157*	NXPH1_ENST00000497400.1_3'UTR|NXPH1_ENST00000602349.1_Nonsense_Mutation_p.S40*	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	157	III.					extracellular region				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		AGGCATAATTCAACTGGTCAA	0.398000													15	35					0.000219431	0.00022959	1	1	0
RPAP3	79657	broad.mit.edu	37	12	48060842	48060842	+	Silent	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr12:48060842G>A	ENST00000005386.3	-	16	1948	c.1833C>T	c.(1831-1833)atC>atT	p.I611I	RPAP3_ENST00000380650.4_Silent_p.I577I|RPAP3_ENST00000432584.3_Silent_p.I452I	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3	611							binding			endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					AGATTTCAAAGATGAGTAATG	0.284000													3	28					0	0	1	0	0
POLG2	11232	broad.mit.edu	37	17	62493003	62493003	+	Silent	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr17:62493003C>T	ENST00000539111.2	-	1	151	c.84G>A	c.(82-84)ggG>ggA	p.G28G		NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	28					DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			GCTCCGGCTGCCCCGCATCTA	0.622000													22	97					0	0	1	0	0
RAE1	8480	broad.mit.edu	37	20	55929772	55929772	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr20:55929772T>C	ENST00000395841.2	+	3	515	c.95T>C	c.(94-96)aTt>aCt	p.I32T	RAE1_ENST00000527947.1_Missense_Mutation_p.I32T|RAE1_ENST00000371242.2_Missense_Mutation_p.I32T|RAE1_ENST00000395840.2_Missense_Mutation_p.I32T	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	ribonucleic acid export 1	32					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore	microtubule binding|RNA binding			breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			CCGCAGGATATTGAAGTAACA	0.413000													10	51					0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	67802391	67802391	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr13:67802391C>T	ENST00000544246.1	-	2	873	c.182G>A	c.(181-183)aGc>aAc	p.S61N	PCDH9_ENST00000328454.5_Missense_Mutation_p.S61N|PCDH9_ENST00000456367.1_Missense_Mutation_p.S61N|PCDH9_ENST00000377865.2_Missense_Mutation_p.S61N|PCDH9_ENST00000377861.3_Missense_Mutation_p.S61N	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	61	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GTAGACAAGGCTGGCGCTGGT	0.463000													5	90					0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139904002	139904002	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr9:139904002G>A	ENST00000265662.5	-	44	6872	c.6725C>T	c.(6724-6726)aCa>aTa	p.T2242I	ABCA2_ENST00000341511.6_Missense_Mutation_p.T2242I|ABCA2_ENST00000371605.3_Missense_Mutation_p.T2241I			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2241	ABC transporter 2.				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CCTGTGTGATGTCAGCACCAC	0.652000													46	55					0	0	1	0	0
OR52I1	390037	broad.mit.edu	37	11	4615722	4615722	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr11:4615722G>A	ENST00000450052.2	+	2	526	c.526G>A	c.(526-528)Gtc>Atc	p.V176I	OR52I1_ENST00000530443.2_Missense_Mutation_p.V152I			Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAGTATGGCCGTCACCATCAG	0.488000													4	96					0	0	1	0	0
ATP1A1	476	broad.mit.edu	37	1	116941554	116941554	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr1:116941554C>T	ENST00000537345.1	+	17	2659	c.2296C>T	c.(2296-2298)Cgt>Tgt	p.R766C	ATP1A1_ENST00000369496.4_Missense_Mutation_p.R735C|ATP1A1_ENST00000295598.5_Missense_Mutation_p.R766C	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	766					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	TTTCATAGGTCGTCTGATCTT	0.373000													8	141					0	0	1	0	0
CLMP	79827	broad.mit.edu	37	11	122954517	122954517	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr11:122954517G>C	ENST00000448775.2	-	4	767	c.427C>G	c.(427-429)Ctg>Gtg	p.L143V		NM_024769.2	NP_079045.1	Q9H6B4	CLMP_HUMAN	CXADR-like membrane protein	143	Ig-like C2-type 2.					integral to membrane|tight junction				endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						CCTTCTGTCAGCTCTCCTTCC	0.488000													22	46					0	0	1	0	0
FADS2	9415	broad.mit.edu	37	11	61596042	61596042	+	Silent	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr11:61596042C>T	ENST00000278840.4	+	1	810	c.180C>T	c.(178-180)atC>atT	p.I60I	FADS2_ENST00000521849.1_Silent_p.I60I|FADS2_ENST00000257261.6_Intron|FADS2_ENST00000522056.1_Intron	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	60	Cytochrome b5 heme-binding.				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	AGCGGGTCATCGGGCACTACG	0.632000											OREG0021015	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	43					0	0	1	0	0
GIF	2694	broad.mit.edu	37	11	59609961	59609961	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr11:59609961G>A	ENST00000541311.1	-	4	625	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C	GIF_ENST00000257248.2_Missense_Mutation_p.R156C			P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	156					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						TTGGCAAAGCGGACGGCTATC	0.577000													15	70					0	0	1	0	0
KIF26B	55083	broad.mit.edu	37	1	245530218	245530218	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr1:245530218G>A	ENST00000407071.2	+	3	988	c.548G>A	c.(547-549)cGc>cAc	p.R183H	KIF26B_ENST00000479506.1_3'UTR	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	183					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CGGGACAACCGCTGTGACATT	0.582000													6	36					0	0	1	0	0
RGL3	57139	broad.mit.edu	37	19	11526654	11526654	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr19:11526654G>A	ENST00000380456.3	-	5	659	c.596C>T	c.(595-597)gCt>gTt	p.A199V	RGL3_ENST00000393423.3_Missense_Mutation_p.A199V	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	199	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						CTCTCGCTCAGCCTCCTCCAA	0.577000													67	252					0	0	1	0	0
CHSY3	337876	broad.mit.edu	37	5	129520147	129520147	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr5:129520147G>A	ENST00000305031.4	+	3	1670	c.1312G>A	c.(1312-1314)Gaa>Aaa	p.E438K	CHSY3_ENST00000507545.1_3'UTR	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	438						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		CAGTAACACAGAAGTGAGCAA	0.502000													6	72					0	0	1	0	0
UBTF	7343	broad.mit.edu	37	17	42290280	42290280	+	Silent	SNP	A	A	G			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr17:42290280A>G	ENST00000302904.4	-	7	1059	c.567T>C	c.(565-567)aaT>aaC	p.N189N	UBTF_ENST00000529383.1_Silent_p.N189N|UBTF_ENST00000527034.1_Silent_p.N189N|UBTF_ENST00000436088.1_Silent_p.N189N|UBTF_ENST00000393606.3_Silent_p.N189N|UBTF_ENST00000533177.1_Silent_p.N189N|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000343638.5_Silent_p.N189N|UBTF_ENST00000526094.1_Silent_p.N189N			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	189					positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		ATTTCTTGGCATTCTGGATTA	0.587000													27	107					0	0	1	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105367205	105367205	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr8:105367205G>C	ENST00000297581.2	+	3	1179	c.1130G>C	c.(1129-1131)tGg>tCg	p.W377S	DCSTAMP_ENST00000517991.1_Intron|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	377					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											TCTGAGACCTGGGTTCCTCTC	0.383000													14	84					0	0	1	0	0
POLI	11201	broad.mit.edu	37	18	51818389	51818389	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr18:51818389G>A	ENST00000579534.1	+	9	1528	c.1385G>A	c.(1384-1386)cGc>cAc	p.R462H	POLI_ENST00000217800.5_Missense_Mutation_p.R336H|POLI_ENST00000579434.1_Missense_Mutation_p.R359H|POLI_ENST00000406285.3_Missense_Mutation_p.R383H|POLI_ENST00000582366.1_3'UTR	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	462					DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		ACTACTTCACGCTCTGGCAAG	0.353000								DNA polymerases (catalytic subunits)					10	79					0	0	1	0	0
NAALAD2	10003	broad.mit.edu	37	11	89903252	89903252	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr11:89903252G>A	ENST00000534061.1	+	13	1588	c.1358G>A	c.(1357-1359)aGa>aAa	p.R453K	NAALAD2_ENST00000321955.4_Missense_Mutation_p.R420K|NAALAD2_ENST00000375944.3_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	453	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TATACTCTCAGAGTTGACTGT	0.274000													6	98					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23894526	23894526	+	Silent	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr14:23894526G>A	ENST00000355349.3	-	21	2550	c.2388C>T	c.(2386-2388)ctC>ctT	p.L796L		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	796	IQ.		L -> F (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCATTCTGGCGAGCACACCTC	0.592000													9	53					0	0	1	0	0
FAM212A	389119	broad.mit.edu	37	3	49842263	49842263	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr3:49842263G>A	ENST00000333323.4	+	2	840	c.707G>A	c.(706-708)cGg>cAg	p.R236Q		NM_203370.1	NP_976248.1	Q96EL1	CC054_HUMAN	family with sequence similarity 212, member A	234																	CTTCGGCGCCGGCTGGCCAGG	0.667000													4	125					0	0	1	0	0
WIPF3	644150	broad.mit.edu	37	7	29915498	29915498	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr7:29915498C>T	ENST00000409290.1	+	2	143	c.143C>T	c.(142-144)gCg>gTg	p.A48V	WIPF3_ENST00000409123.1_Missense_Mutation_p.A48V|WIPF3_ENST00000242140.5_Missense_Mutation_p.A48V	NM_001080529.2	NP_001073998.2	B8ZZV2	B8ZZV2_HUMAN	WAS/WASL interacting protein family, member 3	48								p.A48V(1)		breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						GGCCGGAGTGCGCTGTTGGCT	0.542000													16	59					0	0	1	0	0
ANKRD27	84079	broad.mit.edu	37	19	33113417	33113417	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr19:33113417C>T	ENST00000306065.4	-	18	1896	c.1738G>A	c.(1738-1740)Gtc>Atc	p.V580I		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	580					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	p.V580I(1)		breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					GTCTCTATGACGCCTTGGTAG	0.537000													34	127					0	0	1	0	0
ASB5	140458	broad.mit.edu	37	4	177146431	177146431	+	Silent	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr4:177146431C>T	ENST00000296525.3	-	2	371	c.258G>A	c.(256-258)ctG>ctA	p.L86L	ASB5_ENST00000512254.1_Silent_p.L33L|ASB5_ENST00000511879.1_5'UTR	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	86					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		ATAATGTTCTCAGAGCAAGAA	0.353000													13	70					0	0	1	0	0
BTN3A3	10384	broad.mit.edu	37	6	26445952	26445952	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr6:26445952A>T	ENST00000244519.2	+	5	697	c.454A>T	c.(454-456)Att>Ttt	p.I152F	BTN3A3_ENST00000339789.4_Missense_Mutation_p.I110F|BTN3A3_ENST00000361232.3_Missense_Mutation_p.I110F	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	152	Ig-like V-type 2.					integral to membrane				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						TGATCTTCACATTGAAGTGAA	0.493000													10	59					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152276245	152276245	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr1:152276245C>T	ENST00000368799.1	-	3	11152	c.11117G>A	c.(11116-11118)cGt>cAt	p.R3706H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3706	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGACCCTGAACGTCCAGACCT	0.607000									Ichthyosis				101	226					0	0	1	0	0
KIAA0556	23247	broad.mit.edu	37	16	27772898	27772898	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr16:27772898C>T	ENST00000261588.4	+	19	3815	c.3796C>T	c.(3796-3798)Cgg>Tgg	p.R1266W		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1266										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TGACGACTCCCGGGCCCTGGA	0.542000													5	46					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39025965	39025965	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr19:39025965G>C	ENST00000355481.4	+	80	11565	c.11434G>C	c.(11434-11436)Gat>Cat	p.D3812H	RYR1_ENST00000359596.3_Missense_Mutation_p.D3817H|RYR1_ENST00000360985.3_Missense_Mutation_p.D3817H	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3817					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GAAAATGCTGGATTATCTTAA	0.507000													5	99					0	0	1	0	0
MIDN	90007	broad.mit.edu	37	19	1255048	1255048	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr19:1255048G>A	ENST00000300952.2	+	6	1359	c.844G>A	c.(844-846)Ggg>Agg	p.G282R	MIDN_ENST00000591446.2_Missense_Mutation_p.G282R	NM_177401.4	NP_796375.3	Q504T8	MIDN_HUMAN	midnolin	282						nucleolus				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTCTTCTCAGGGACCTTCTC	0.627000													15	63					0	0	1	0	0
KIT	3815	broad.mit.edu	37	4	55598102	55598102	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr4:55598102G>A	ENST00000288135.5	+	16	2396	c.2299G>A	c.(2299-2301)Gaa>Aaa	p.E767K		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	767	Protein kinase.				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)	CCTAGACTTAGAAGACTTGCT	0.453000		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				20	84					0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61613164	61613164	+	Silent	SNP	G	G	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr17:61613164G>A	ENST00000583023.1	+	6	1247	c.1236G>A	c.(1234-1236)gcG>gcA	p.A412A	KCNH6_ENST00000314672.5_Silent_p.A412A|KCNH6_ENST00000580652.1_Silent_p.A412A|KCNH6_ENST00000581784.1_Silent_p.A412A|KCNH6_ENST00000456941.2_Silent_p.A412A	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	412					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	CGCTCATAGCGCACTGGCTGG	0.627000													4	123					0	0	1	0	0
HECTD3	79654	broad.mit.edu	37	1	45473174	45473174	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr1:45473174G>T	ENST00000372172.4	-	10	1485	c.1414C>A	c.(1414-1416)Cca>Aca	p.P472T	HECTD3_ENST00000372168.3_Missense_Mutation_p.P82T	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	472					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					TATAGGCGTGGCATGAAGCTG	0.607000													5	115					0.00116845	0.00120579	1	1	0
COL4A6	1288	broad.mit.edu	37	X	107403883	107403883	+	Splice_Site	SNP	T	T	G			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chrX:107403883T>G	ENST00000394872.2	-	43	4569	c.4336_splice	c.e43-1	p.G1446_splice	COL4A6_ENST00000545689.1_Splice_Site_p.G1421_splice|COL4A6_ENST00000372216.4_Splice_Site_p.G1446_splice|COL4A6_ENST00000538570.1_Splice_Site_p.G1388_splice|COL4A6_ENST00000334504.7_Splice_Site_p.G1445_splice			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1446	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GCCCTGGAGCTCCTGAGAGAG	0.522000									Alport syndrome with Diffuse Leiomyomatosis				16	68					0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885685	88885685	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr8:88885685C>T	ENST00000319675.3	-	1	611	c.515G>A	c.(514-516)cGt>cAt	p.R172H		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	172										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GCCAGGCCGACGCATTCCTGG	0.567000													20	152					0	0	1	0	0
LPHN1	22859	broad.mit.edu	37	19	14263627	14263627	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr19:14263627C>T	ENST00000340736.6	-	20	3704	c.3407G>A	c.(3406-3408)cGa>cAa	p.R1136Q	CTB-55O6.12_ENST00000588658.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.R1131Q	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1136					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGTGTTGCTTCGCATGGCTGA	0.627000													19	112					0	0	1	0	0
C1orf56	54964	broad.mit.edu	37	1	151021108	151021110	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr1:151021108_151021110delGCC	ENST00000368926.5	+	1	893_895	c.785_787delGCC	c.(784-789)tcc>t	p.CP262del	C1orf56_ENST00000465135.1_3'UTR	NM_017860.3	NP_060330.2	Q9BUN1	CA056_HUMAN	chromosome 1 open reading frame 56	262						extracellular region				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CGGGAAGAGTGCCCCCTGGACAC	0.601											OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	84	137	---	---	---	---					
ATP6V1B1	525	broad.mit.edu	37	2	71191572	71191573	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr2:71191572_71191573insC	ENST00000234396.4	+	12	1221_1222	c.1148_1149insC	c.(1147-1149)tccfs	p.S383fs	AC007040.11_ENST00000606025.1_Intron|ATP6V1B1_ENST00000412314.1_Frame_Shift_Ins_p.S366fs	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	383					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						CCTCAGATCTACCCCCCCATCA	0.545											OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	62	---	---	---	---					
MYLK	4638	broad.mit.edu	37	3	123368043	123368044	+	Splice_Site	INS	-	-	G	rs138786404		TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr3:123368043_123368044insG	ENST00000360772.3	-	26	4667		c.e26-2		MYLK_ENST00000475616.1_Splice_Site|MYLK_ENST00000359169.1_Splice_Site|MYLK_ENST00000360304.3_Splice_Site|MYLK_ENST00000354792.5_Splice_Site|MYLK_ENST00000346322.5_Splice_Site			Q15746	MYLK_HUMAN	myosin light chain kinase						aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCTTCGGCTCTGGGGGGGGCAC	0.624													16	86	---	---	---	---					
NOA1	84273	broad.mit.edu	37	4	57840083	57840085	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr4:57840083_57840085delTCT	ENST00000264230.4	-	2	2485_2487	c.1248_1250delAGA	c.(1246-1251)gat>ga	p.ED416del		NM_032313.2	NP_115689.1	Q8NC60	CD014_HUMAN	nitric oxide associated 1	416							GTP binding										CTCACTAAGATCTTCTTCAGCTT	0.374													20	84	---	---	---	---					
MBLAC2	153364	broad.mit.edu	37	5	89757342	89757342	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr5:89757342delT	ENST00000316610.6	-	2	957	c.482delA	c.(481-483)cgfs	p.Q161fs		NM_203406.1	NP_981951.1	Q68D91	MBLC2_HUMAN	metallo-beta-lactamase domain containing 2	161							hydrolase activity|metal ion binding			kidney(1)|liver(1)|lung(3)	5						AACAGTGAGCTGTCTGTCACC	0.428													8	41	---	---	---	---					
MCHR2	84539	broad.mit.edu	37	6	100382358	100382358	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr6:100382358delA	ENST00000281806.2	-	5	937	c.623delT	c.(622-624)tcfs	p.F208fs	MCHR2_ENST00000369212.1_Frame_Shift_Del_p.F208fs|MCHR2_ENST00000445970.1_Frame_Shift_Del_p.F208fs	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	208						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.F208fs*5(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		GGGTAGAGGGAAAAAAAAAGT	0.343													15	71	---	---	---	---					
RP11-405A12.2	0	broad.mit.edu	37	12	20096042	20096042	+	RNA	DEL	A	A	-			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr12:20096042delA	ENST00000535764.1	+	0	212																											ACAAGCTGTTAAAAAAAAAAT	0.303													3	5	---	---	---	---					
ALDH1A2	8854	broad.mit.edu	37	15	58254352	58254354	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr15:58254352_58254354delTTG	ENST00000249750.4	-	10	1874_1876	c.1107_1109delCAA	c.(1105-1110)aag>aa	p.NK369del	ALDH1A2_ENST00000537372.1_In_Frame_Del_p.NK348del|ALDH1A2_ENST00000347587.3_In_Frame_Del_p.NK331del|ALDH1A2_ENST00000558231.1_In_Frame_Del_p.NK340del|ALDH1A2_ENST00000559517.1_In_Frame_Del_p.NK273del	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	369					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	TTCCAAGATCTTGTTGTACTGTT	0.433													14	95	---	---	---	---					
CTCF	10664	broad.mit.edu	37	16	67663416	67663438	+	Splice_Site	DEL	AAGAAGATTCCTCTGACAGTGGT	AAGAAGATTCCTCTGACAGTGGT	-			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr16:67663416_67663438delAAGAAGATTCCTCTGACAGTGGT	ENST00000264010.4	+	10	2261_2281	c.1837_splice	c.e10+1	p.S606_splice	CTCF_ENST00000401394.1_Splice_Site_p.S278_splice	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	606					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	p.?(1)		breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		CGCTCTAAGAAAGAAGATTCCTCTGACAGTGGTAAGTGACTTG	0.457													8	103	---	---	---	---					
EVI2A	2123	broad.mit.edu	37	17	29645635	29645637	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr17:29645635_29645637delTGT	ENST00000247270.3	-	3	800_802	c.464_466delACA	c.(463-468)atg>a	p.NM155del	EVI2A_ENST00000461237.1_In_Frame_Del_p.NM132del|NF1_ENST00000356175.3_Intron|EVI2A_ENST00000462804.2_In_Frame_Del_p.NM132del|NF1_ENST00000358273.4_Intron|NF1_ENST00000581113.2_Intron|CTD-2370N5.3_ENST00000578584.1_In_Frame_Del_p.QH71del	NM_001003927.2	NP_001003927.1	P22794	EVI2A_HUMAN	ecotropic viral integration site 2A	132						integral to membrane	transmembrane receptor activity	p.0?(8)|p.?(3)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)		AGCATAGCCATGTTGTTGTTGTT	0.365													18	96	---	---	---	---					
PTPN2	5771	broad.mit.edu	37	18	12825830	12825845	+	Frame_Shift_Del	DEL	TAGATGTACTGTATAA	TAGATGTACTGTATAA	-			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr18:12825830_12825845delTAGATGTACTGTATAA	ENST00000309660.5	-	5	552_567	c.459_474delTTATACAGTACATCTA	c.(457-474)tafs	p.YYTVHL153fs	PTPN2_ENST00000591497.1_Frame_Shift_Del_p.YYTVHL124fs|PTPN2_ENST00000591115.1_Frame_Shift_Del_p.YYTVHL153fs|PTPN2_ENST00000353319.4_Frame_Shift_Del_p.YYTVHL153fs|PTPN2_ENST00000327283.3_Frame_Shift_Del_p.YYTVHL153fs	NM_002828.3	NP_002819.2	P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type 2	153	Tyrosine-protein phosphatase.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway	endoplasmic reticulum|nucleoplasm	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13		Lung NSC(161;8.94e-06)				CTAATTGTAGTAGATGTACTGTATAATACGACTTCA	0.333													7	68	---	---	---	---					
ZNF492	57615	broad.mit.edu	37	19	22846645	22846646	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr19:22846645_22846646insA	ENST00000456783.2	+	4	418_419	c.174_175insA	c.(172-177)ggaaaafs	p.GK58fs		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	58					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				CAAAGCAGGGCAAAAAAAATTA	0.302													7	10	---	---	---	---					
KMT2B	9757	broad.mit.edu	37	19	36211899	36211899	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr19:36211899delC	ENST00000222270.7	+	3	1650	c.1650delC	c.(1648-1650)gafs	p.D550fs	KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000341701.1_Intron|WBP7_ENST00000420124.1_Frame_Shift_Del_p.D550fs	NM_014727.1	NP_055542.1																					TGGATGAAGACCCCCCCAAAC	0.592													9	26	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11047461	11047462	+	RNA	INS	-	-	A			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chr21:11047461_11047462insA	ENST00000470054.1	-	0	774									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACAGAGGATTTAAAAAAGTAAA	0.312													7	224	---	---	---	---					
APOO	79135	broad.mit.edu	37	X	23898999	23898999	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BA-A6DF-01A-11D-A30E-08	TCGA-BA-A6DF-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f50035d-1dcc-41c0-98ce-73fd6e07efce	4f9104d5-7c07-4709-9bfb-8297cb421ddb	g.chrX:23898999delT	ENST00000379226.4	-	2	311	c.80delA	c.(79-81)agfs	p.K27fs	APOO_ENST00000379220.3_Frame_Shift_Del_p.K27fs	NM_024122.4	NP_077027.1	Q9BUR5	APOO_HUMAN	apolipoprotein O	27					lipid transport	high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1)	9						AGGTGAGTCCTTTTTTGGTGC	0.428													13	60	---	---	---	---