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
PPM1B	5495	broad.mit.edu	37	2	44428625	44428625	+	Missense_Mutation	SNP	A	A	T			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr2:44428625A>T	ENST00000378551.2	+	2	699	c.287A>T	c.(286-288)gAg>gTg	p.E96V	PPM1B_ENST00000282412.4_Missense_Mutation_p.E96V|PPM1B_ENST00000345249.4_Intron|PPM1B_ENST00000378540.4_3'UTR|PPM1B_ENST00000409895.4_Missense_Mutation_p.E96V|PPM1B_ENST00000409432.3_Missense_Mutation_p.E96V	NM_177968.2	NP_808907.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B	96					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TCTGCTCTTGAGCTTTCAGTG	0.408000													37	40					0	0	1	0	0
SCP2D1	140856	broad.mit.edu	37	20	18794772	18794772	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr20:18794772G>T	ENST00000377428.2	+	1	403	c.313G>T	c.(313-315)Gac>Tac	p.D105Y	C20orf78_ENST00000278779.4_Intron	NM_178483.2	NP_848578.1			SCP2 sterol-binding domain containing 1																		GCTCCCAGCAGACACTGTCTT	0.507000													15	26					2.62699e-14	2.78461e-14	1	1	0
UBBP4	0	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs149119138	by1000genomes	TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr17:21731144T>G	ENST00000584755.1	+	2	843	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000583708.1_3'UTR														p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542000													5	64					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40367841	40367841	+	Silent	SNP	T	T	G			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr19:40367841T>G	ENST00000221347.6	-	29	13126	c.13119A>C	c.(13117-13119)gcA>gcC	p.A4373A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4373	TIL 10.					extracellular region	protein binding	p.A4373A(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCGTAAGGGGTGCAGGGGACG	0.627000													8	16					0	0	1	0	0
GLB1	2720	broad.mit.edu	37	3	33109728	33109728	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr3:33109728C>T	ENST00000307363.5	-	4	595	c.451G>A	c.(451-453)Gac>Aac	p.D151N	GLB1_ENST00000307377.8_Intron|GLB1_ENST00000399402.3_Missense_Mutation_p.D121N|GLB1_ENST00000445488.2_Missense_Mutation_p.D199N	NM_000404.2	NP_000395.2	P16278	BGAL_HUMAN	galactosidase, beta 1	151			D -> V (in GM1G1).|D -> Y (in GM1G1; complete lack of protein; no enzymatic activity).		carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				CTACCTGGGTCGGAGGAGCGG	0.488000													27	36					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8521487	8521487	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr9:8521487C>T	ENST00000381196.4	-	17	1294	c.751G>A	c.(751-753)Gga>Aga	p.G251R	PTPRD_ENST00000397606.3_Missense_Mutation_p.G241R|PTPRD_ENST00000397611.3_Missense_Mutation_p.G248R|PTPRD_ENST00000397617.3_Missense_Mutation_p.G241R|PTPRD_ENST00000540109.1_Missense_Mutation_p.G251R|PTPRD_ENST00000360074.4_Missense_Mutation_p.G238R|PTPRD_ENST00000537002.1_Missense_Mutation_p.G248R|PTPRD_ENST00000358503.5_Missense_Mutation_p.G238R|PTPRD_ENST00000486161.1_Missense_Mutation_p.G251R|PTPRD_ENST00000356435.5_Missense_Mutation_p.G251R|PTPRD_ENST00000355233.5_Missense_Mutation_p.G251R	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	251	Ig-like C2-type 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTAACGCTTCCGCCTGGCATG	0.468000										TSP Lung(15;0.13)			22	10					0	0	1	0	0
KDM5C	8242	broad.mit.edu	37	X	53226063	53226063	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chrX:53226063C>T	ENST00000452825.3	-	17	3117	c.2585G>A	c.(2584-2586)cGa>cAa	p.R862Q	KDM5C_ENST00000375401.3_Missense_Mutation_p.R929Q|KDM5C_ENST00000404049.3_Missense_Mutation_p.R928Q|KDM5C_ENST00000375379.3_Missense_Mutation_p.R929Q|KDM5C_ENST00000375383.3_Missense_Mutation_p.R888Q	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	929					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						ATCCAGCCATCGCGCCTGTTC	0.672000			"""N, F, S"""		clear cell renal carcinoma								5	10					0	0	1	0	0
KRTAP21-1	337977	broad.mit.edu	37	21	32127495	32127495	+	Missense_Mutation	SNP	G	G	A	rs149639659	by1000genomes	TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr21:32127495G>A	ENST00000335093.3	-	1	251	c.202C>T	c.(202-204)Cgg>Tgg	p.R68W		NM_181619.1	NP_853650.1	Q3LI58	KR211_HUMAN	keratin associated protein 21-1	68						intermediate filament				breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7						CAAAATGGCCGGTAGCCACAG	0.478000													10	198					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358000													5	17					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117391914	117391914	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr11:117391914C>T	ENST00000321322.6	-	6	1325	c.1324G>A	c.(1324-1326)Ggg>Agg	p.G442R	DSCAML1_ENST00000527706.1_Missense_Mutation_p.G172R	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	382	Ig-like C2-type 5.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TGGTAGGCCCCGGAATGGCTC	0.652000													5	116					0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33574784	33574784	+	Missense_Mutation	SNP	G	G	A	rs115275866	by1000genomes	TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr20:33574784G>A	ENST00000262873.7	+	13	1218	c.1126G>A	c.(1126-1128)Gcc>Acc	p.A376T		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	334	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GGAGCTCATCGCCACCGACGT	0.607000													17	28					0	0	1	0	0
WSB1	26118	broad.mit.edu	37	17	25631850	25631850	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr17:25631850G>A	ENST00000262394.2	+	4	839	c.523G>A	c.(523-525)Gat>Aat	p.D175N	WSB1_ENST00000348811.2_Missense_Mutation_p.D29N|WSB1_ENST00000583193.1_Intron|WSB1_ENST00000427287.2_Missense_Mutation_p.D144N|WSB1_ENST00000579733.1_Missense_Mutation_p.D29N|WSB1_ENST00000581185.1_Missense_Mutation_p.D175N	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box containing 1	175					intracellular signal transduction	intracellular	protein binding			lung(3)	3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		AGTGGTCAGAGATTTAACTTT	0.348000													38	42					0	0	1	0	0
ACOT9	23597	broad.mit.edu	37	X	23723125	23723125	+	Silent	SNP	G	G	A			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chrX:23723125G>A	ENST00000379303.5	-	14	1220	c.1092C>T	c.(1090-1092)ctC>ctT	p.L364L	ACOT9_ENST00000379295.1_Silent_p.L295L|ACOT9_ENST00000336430.7_Silent_p.L355L	NM_001037171.1	NP_001032248.1	Q9Y305	ACOT9_HUMAN	acyl-CoA thioesterase 9	355					acyl-CoA metabolic process	mitochondrion	acetyl-CoA hydrolase activity|carboxylesterase activity			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						AAGAAAGAAAGAGCAATGAGC	0.413000													16	74					0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	119914946	119914946	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr7:119914946G>A	ENST00000331113.4	+	1	1225	c.260G>A	c.(259-261)cGt>cAt	p.R87H		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	87	Interaction with KCNIP1 (By similarity).				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					TTCTTTGACCGTGACCCAGAC	0.527000													4	169					0	0	1	0	0
SRMS	6725	broad.mit.edu	37	20	62172684	62172684	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr20:62172684G>A	ENST00000217188.1	-	7	1185	c.1145C>T	c.(1144-1146)cCg>cTg	p.P382L		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	382	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GCTGCTGCTCGGGGAGTAGAT	0.662000													54	83					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136566252	136566252	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr2:136566252T>C	ENST00000264162.2	-	8	3675	c.3665A>G	c.(3664-3666)aAc>aGc	p.N1222S		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1222	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GGAGGGTGGGTTTAGCCTGGG	0.587000													27	103					0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	518418	518418	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr10:518418G>A	ENST00000280886.6	-	3	316	c.229C>T	c.(229-231)Cga>Tga	p.R77*	DIP2C_ENST00000381496.3_5'UTR	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	77						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GAAGACCGTCGGCGGTGGTAG	0.592000													5	107					0	0	1	0	0
JPH1	56704	broad.mit.edu	37	8	75227343	75227343	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr8:75227343G>A	ENST00000342232.4	-	2	932	c.892C>T	c.(892-894)Cgc>Tgc	p.R298C		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	298					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)			CCATTGGAGCGCTCGCTAACG	0.537000													10	100					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56374648	56374648	+	Silent	SNP	G	G	A			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr6:56374648G>A	ENST00000370754.5	-	74	18710	c.18711C>T	c.(18709-18711)atC>atT	p.I6237I	DST_ENST00000446842.2_Silent_p.I5733I|DST_ENST00000370769.4_Silent_p.I6059I|DST_ENST00000340834.4_5'UTR|DST_ENST00000244364.6_Silent_p.I3645I|DST_ENST00000361203.3_Silent_p.I5948I|DST_ENST00000421834.2_Silent_p.I3971I|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Silent_p.I3862I			Q03001	DYST_HUMAN	dystonin	6057					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GGCTCTCAAGGATCTGATCTA	0.398000													21	10					0	0	1	0	0
ARFIP1	27236	broad.mit.edu	37	4	153791963	153791963	+	Silent	SNP	A	A	G			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr4:153791963A>G	ENST00000451320.2	+	4	425	c.261A>G	c.(259-261)cgA>cgG	p.R87R	ARFIP1_ENST00000405727.2_Intron|ARFIP1_ENST00000353617.2_Silent_p.R87R|ARFIP1_ENST00000429148.2_Intron|ARFIP1_ENST00000511289.1_3'UTR|ARFIP1_ENST00000356064.3_Intron			P53367	ARFP1_HUMAN	ADP-ribosylation factor interacting protein 1	87					intracellular protein transport|regulation of protein secretion	cytosol|Golgi membrane			ARFIP1/FHDC1(2)	cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(180;0.093)					CAGCTAGTCGACTGGCTCAGC	0.448000													30	38					0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42791805	42791805	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr19:42791805A>G	ENST00000572681.2	+	6	3486	c.3418A>G	c.(3418-3420)Agc>Ggc	p.S1140G	CIC_ENST00000575354.2_Missense_Mutation_p.S231G|CIC_ENST00000160740.3_Missense_Mutation_p.S231G			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	231	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCGGACCGTCAGCAAGATCCT	0.622000			"""Mis, F, S"""		oligodendroglioma								32	2					0	0	1	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55360227	55360227	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr6:55360227G>A	ENST00000398661.2	-	8	1006	c.875C>T	c.(874-876)aCg>aTg	p.T292M	HMGCLL1_ENST00000370850.2_Missense_Mutation_p.T159M|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.T262M|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.T230M|HMGCLL1_ENST00000508459.1_Intron	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	292							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			CTGAAGGGCCGTAAGGATATT	0.383000													25	24					0	0	1	0	0
RELT	84957	broad.mit.edu	37	11	73105561	73105561	+	Silent	SNP	G	G	A			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr11:73105561G>A	ENST00000064780.2	+	9	1089	c.828G>A	c.(826-828)ccG>ccA	p.P276P	RELT_ENST00000393580.2_Silent_p.P276P	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	276						cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						ACATCTGCCCGCACCGCCACC	0.706000													4	122					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152647526	152647526	+	Silent	SNP	G	G	A			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr6:152647526G>A	ENST00000367255.5	-	79	15799	c.15198C>T	c.(15196-15198)acC>acT	p.T5066T	SYNE1_ENST00000341594.5_Silent_p.T4813T|SYNE1_ENST00000423061.1_Silent_p.T4995T|SYNE1_ENST00000448038.1_Silent_p.T4995T|SYNE1_ENST00000265368.4_Silent_p.T5066T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5066					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTTCTTTGCCGGTTGGCTTGA	0.522000										HNSCC(10;0.0054)			23	34					0	0	1	0	0
OR2A5	393046	broad.mit.edu	37	7	143748007	143748007	+	Silent	SNP	C	C	T			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr7:143748007C>T	ENST00000408906.2	+	1	547	c.513C>T	c.(511-513)ccC>ccT	p.P171P		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TCTGTGGGCCCCATGAAATCA	0.552000													5	255					0	0	1	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209190050	209190050	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr2:209190050A>G	ENST00000264380.4	+	20	2673	c.2515A>G	c.(2515-2517)Atc>Gtc	p.I839V		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	839					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						AGGCTGTACAATCAAGCTAAG	0.393000													28	11					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A	rs77484671		TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3455								p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423000													3	31					0	0	1	0	0
UBC	7316	broad.mit.edu	37	12	125397725	125397725	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr12:125397725G>A	ENST00000536769.1	-	1	2169	c.593C>T	c.(592-594)gCc>gTc	p.A198V	UBC_ENST00000546120.1_Missense_Mutation_p.A122V|UBC_ENST00000538617.1_Intron|UBC_ENST00000339647.5_Missense_Mutation_p.A198V			P0CG48	UBC_HUMAN	ubiquitin C	198	Ubiquitin-like 3.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CTGTTTTCCGGCAAAGATCAA	0.507000													4	138					0	0	1	0	0
USHBP1	83878	broad.mit.edu	37	19	17362479	17362479	+	Missense_Mutation	SNP	G	G	A	rs139642055	byFrequency	TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr19:17362479G>A	ENST00000252597.3	-	12	2007	c.1834C>T	c.(1834-1836)Cgc>Tgc	p.R612C	USHBP1_ENST00000431146.2_Missense_Mutation_p.R548C|AC010646.3_ENST00000594059.1_5'UTR	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	612							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						AGCTCCCTGCGCAGAGACTGC	0.602000													38	34					0	0	1	0	0
KCNJ12	3768	broad.mit.edu	37	17	21318742	21318742	+	Missense_Mutation	SNP	G	G	A	rs150538033		TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr17:21318742G>A	ENST00000583088.1	+	3	983	c.88G>A	c.(88-90)Ggc>Agc	p.G30S	KCNJ12_ENST00000331718.5_Missense_Mutation_p.G30S	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		GGGCGCCAACGGCTTCGGCAA	0.647000										Prostate(3;0.18)			7	45					0	0	1	0	0
PPP2R5B	5526	broad.mit.edu	37	11	64694345	64694345	+	Missense_Mutation	SNP	C	C	A			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr11:64694345C>A	ENST00000164133.2	+	3	983	c.361C>A	c.(361-363)Ctc>Atc	p.L121I		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	121					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						CCGGGGTGTCCTCATCGAGCC	0.652000													3	37					0.115264	0.117481	1	1	0
KDM5B	10765	broad.mit.edu	37	1	202718147	202718147	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr1:202718147C>T	ENST00000367265.3	-	14	3106	c.1942G>A	c.(1942-1944)Gct>Act	p.A648T	KDM5B_ENST00000367264.2_Missense_Mutation_p.A684T	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	648					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						ACAGTTGAAGCCACTACAACA	0.413000													36	51					0	0	1	0	0
OR2A14	135941	broad.mit.edu	37	7	143826709	143826709	+	Silent	SNP	C	C	T			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr7:143826709C>T	ENST00000408899.2	+	1	559	c.504C>T	c.(502-504)tgC>tgT	p.C168C		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					TGCCCTTCTGCGGGCCTCATG	0.552000													92	208					0	0	1	0	0
PDZD4	57595	broad.mit.edu	37	X	153068982	153068982	+	Silent	SNP	G	G	A			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chrX:153068982G>A	ENST00000164640.4	-	8	2327	c.2136C>T	c.(2134-2136)ggC>ggT	p.G712G	PDZD4_ENST00000393758.2_Silent_p.G637G|PDZD4_ENST00000544474.1_Silent_p.G603G	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	712						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTTGCTGTCGCCATTCTGCT	0.602000													26	60					0	0	1	0	0
C11orf16	56673	broad.mit.edu	37	11	8943016	8943016	+	Silent	SNP	C	C	T			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr11:8943016C>T	ENST00000326053.5	-	6	1357	c.1251G>A	c.(1249-1251)caG>caA	p.Q417Q	C11orf16_ENST00000525780.1_Intron	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	417										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		GTGCTCTCTGCTGTTTGTGAT	0.473000													7	104					0	0	1	0	0
ABHD8	79575	broad.mit.edu	37	19	17405266	17405266	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr19:17405266T>C	ENST00000247706.3	-	4	1219	c.980A>G	c.(979-981)gAg>gGg	p.E327G	MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	327							hydrolase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						AGCGTTGCCCTCCTTTAACAG	0.647000													11	79					0	0	1	0	0
ZNRD1-AS1	0	broad.mit.edu	37	6	29977327	29977327	+	RNA	SNP	T	T	C	rs143365191	by1000genomes	TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr6:29977327T>C	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA																							GACAGCTGCCTTGTGTGGGAC	0.438000													4	44					0	0	1	0	0
MPHOSPH9	10198	broad.mit.edu	37	12	123687257	123687257	+	Silent	SNP	G	G	T			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr12:123687257G>T	ENST00000606320.1	-	10	1901	c.1695C>A	c.(1693-1695)gtC>gtA	p.V565V	MPHOSPH9_ENST00000302349.5_Silent_p.V413V|MPHOSPH9_ENST00000392425.3_Silent_p.V413V|MPHOSPH9_ENST00000541076.2_Silent_p.V535V			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	413					M phase of mitotic cell cycle	centriole|Golgi membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		GGGACTGACTGACTGAGGCCG	0.433000													3	54					6.4e-05	6.65098e-05	1	1	0
LCE3E	353145	broad.mit.edu	37	1	152538494	152538494	+	Missense_Mutation	SNP	C	C	T	rs143470301		TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr1:152538494C>T	ENST00000368789.1	-	2	246	c.191G>A	c.(190-192)cGg>cAg	p.R64Q		NM_178435.2	NP_848522.1	Q5T5B0	LCE3E_HUMAN	late cornified envelope 3E	64					keratinization					lung(6)|ovary(1)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)		CCTCTGGCGCCGGCATCGGTG	0.677000													8	77					0	0	1	0	0
OR51I2	390064	broad.mit.edu	37	11	5475052	5475052	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr11:5475052T>C	ENST00000341449.2	+	1	415	c.334T>C	c.(334-336)Tca>Cca	p.S112P	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATGATGGAATCAGGTATTCT	0.483000													36	70					0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55494451	55494451	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr19:55494451C>T	ENST00000543010.1	+	6	1528	c.1385C>T	c.(1384-1386)aCg>aTg	p.T462M	NLRP2_ENST00000391721.4_Missense_Mutation_p.T438M|NLRP2_ENST00000448584.2_Missense_Mutation_p.T462M|NLRP2_ENST00000339757.7_Missense_Mutation_p.T440M|NLRP2_ENST00000263437.6_Missense_Mutation_p.T459M|NLRP2_ENST00000427260.2_Missense_Mutation_p.T439M|NLRP2_ENST00000537859.1_Missense_Mutation_p.T440M|NLRP2_ENST00000538819.1_Missense_Mutation_p.T438M	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	462	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TGGGCGCAGACGTCCGTGCTT	0.687000													32	2					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								24	17					0	0	1	0	0
CHAT	1103	broad.mit.edu	37	10	50833584	50833584	+	Missense_Mutation	SNP	A	A	C			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr10:50833584A>C	ENST00000395562.2	+	7	1041	c.572A>C	c.(571-573)tAc>tCc	p.Y191S	CHAT_ENST00000339797.1_Missense_Mutation_p.Y155S|CHAT_ENST00000395559.2_Missense_Mutation_p.Y155S|CHAT_ENST00000455728.2_Missense_Mutation_p.Y155S|CHAT_ENST00000351556.3_Missense_Mutation_p.Y155S|CHAT_ENST00000337653.2_Missense_Mutation_p.Y273S	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	273					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	ATGAAGCAATACTATGGGCTC	0.602000													8	8					0	0	1	0	0
FAM65A	79567	broad.mit.edu	37	16	67575592	67575592	+	Silent	SNP	T	T	G			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr16:67575592T>G	ENST00000540839.3	+	13	1267	c.1047T>G	c.(1045-1047)tcT>tcG	p.S349S	FAM65A_ENST00000379312.3_Silent_p.S333S|FAM65A_ENST00000042381.4_Silent_p.S329S|FAM65A_ENST00000428437.2_Silent_p.S343S|FAM65A_ENST00000422602.2_Silent_p.S349S			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	333						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CAGCTGCTTCTTCTGTCAACA	0.597000													15	17					0	0	1	0	0
AC018890.6	0	broad.mit.edu	37	2	175584608	175584608	+	RNA	DEL	G	G	-			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr2:175584608delG	ENST00000442996.1	+	0	217																											CGAAGGAGAAGGGGGGTAAGT	0.602											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	3	---	---	---	---					
NIPBL	25836	broad.mit.edu	37	5	37001134	37001135	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr5:37001134_37001135delAG	ENST00000282516.8	+	14	4117_4118	c.3618_3619delAG	c.(3616-3621)atagfs	p.IE1206fs	NIPBL_ENST00000448238.2_Frame_Shift_Del_p.IE1206fs	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1206			I -> V.|Missing (in CDLS1).		brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CAGCCTCAATAGAGAATATTTT	0.307													21	43	---	---	---	---					
TAP1	6890	broad.mit.edu	37	6	32821013	32821013	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr6:32821013delC	ENST00000354258.4	-	1	742	c.581delG	c.(580-582)gafs	p.G194fs	PSMB9_ENST00000395330.1_Intron	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	194					antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						AGGGTGACTTCCCCAGTGCAG	0.672													2	4	---	---	---	---					
INTS4L2	0	broad.mit.edu	37	7	65150824	65150825	+	RNA	INS	-	-	G			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr7:65150824_65150825insG	ENST00000430126.2	+	0	757																											TCACCCCCCCCCCCGTTAAAAT	0.470													4	3	---	---	---	---					
HELZ2	85441	broad.mit.edu	37	20	62203514	62203514	+	Frame_Shift_Del	DEL	G	G	-			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr20:62203514delG	ENST00000467148.1	-	1	294	c.225delC	c.(223-225)ccfs	p.P75fs	HELZ2_ENST00000479540.1_5'UTR	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		GGTGCTCCCAGGGCAGGGCCT	0.647													7	9	---	---	---	---					
