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
TNFRSF12A	51330	broad.mit.edu	37	16	3071909	3071909	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr16:3071909G>T	ENST00000575124.1	+	3	658	c.635G>T	c.(634-636)cGg>cTg	p.R212L	TNFRSF12A_ENST00000573001.1_3'UTR|TNFRSF12A_ENST00000341627.5_3'UTR|TNFRSF12A_ENST00000326577.4_3'UTR			Q9NP84	TNR12_HUMAN	tumor necrosis factor receptor superfamily, member 12A	106					angiogenesis|apoptosis	integral to membrane	receptor activity			lung(1)|skin(1)	2						TCCCAGACGCGGCGGGAGCCA	0.632000													5	13					0.0215528	0.0219023	1	1	0
TP53	7157	broad.mit.edu	37	17	7577534	7577534	+	Missense_Mutation	SNP	C	C	G	rs28934571		TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr17:7577534C>G	ENST00000420246.2	-	7	879	c.747G>C	c.(745-747)agG>agC	p.R249S	TP53_ENST00000359597.4_Missense_Mutation_p.R249S|TP53_ENST00000269305.4_Missense_Mutation_p.R249S|TP53_ENST00000413465.2_Missense_Mutation_p.R249S|TP53_ENST00000455263.2_Missense_Mutation_p.R249S|TP53_ENST00000445888.2_Missense_Mutation_p.R249S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	249	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; dbSNP:rs28934571).|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R249S(348)|p.0?(8)|p.R249R(5)|p.?(5)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.R249_P250insR(1)|p.R249_P250>SS(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*14(1)|p.R249_T256delRPILTIIT(1)|p.P250fs*14(1)|p.R249_I251delRPI(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGAGGATGGGCCTCCGGTTCA	0.572000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			47	38					0	0	1	0	0
CSAD	51380	broad.mit.edu	37	12	53555162	53555162	+	Silent	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr12:53555162C>T	ENST00000267085.4	-	11	1028	c.795G>A	c.(793-795)ccG>ccA	p.P265P	CSAD_ENST00000453446.2_Silent_p.P238P|CSAD_ENST00000444623.1_Silent_p.P238P|CSAD_ENST00000379846.1_Silent_p.P91P|CSAD_ENST00000379843.3_Silent_p.P91P	NM_001244706.1|NM_015989.4	NP_001231635.1|NP_057073.4	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	238					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	TGACCAGGAACGGCACAGCAC	0.552000													6	81					0	0	1	0	0
RNF115	27246	broad.mit.edu	37	1	145650515	145650515	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr1:145650515A>G	ENST00000369291.4	+	3	398	c.194A>G	c.(193-195)aAt>aGt	p.N65S		NM_014455.2	NP_055270.1	Q9Y4L5	RN115_HUMAN	ring finger protein 115	65					protein autoubiquitination	cytosol	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						CGGATAGACAATACCACAACA	0.403000													22	47					0	0	1	0	0
TRAV8-7	28679	broad.mit.edu	37	14	22600915	22600915	+	RNA	SNP	G	G	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr14:22600915G>A	ENST00000390456.3	+	0	260																											TTTAAGAAGAGCGAAACCTCC	0.507000													13	41					0	0	1	0	0
UBAP2L	9898	broad.mit.edu	37	1	154221753	154221753	+	Silent	SNP	A	A	G			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr1:154221753A>G	ENST00000428931.1	+	12	1220	c.1053A>G	c.(1051-1053)gaA>gaG	p.E351E	UBAP2L_ENST00000343815.6_Silent_p.E351E|UBAP2L_ENST00000271877.7_Silent_p.E362E|UBAP2L_ENST00000361546.2_Silent_p.E351E	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	351					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ATGTCGGTGAAGCTAAAGGCG	0.488000													20	95					0	0	1	0	0
PRRT3	285368	broad.mit.edu	37	3	9991857	9991857	+	Splice_Site	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr3:9991857C>T	ENST00000412055.1	-	2	73		c.e2-1		PRRT3-AS1_ENST00000431558.1_RNA|PRRT3_ENST00000411976.2_Splice_Site	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3							integral to membrane				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						CTGGATGAGCCTAAAAAAAAA	0.572000													5	3					0	0	1	0	0
GIT2	9815	broad.mit.edu	37	12	110370840	110370840	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr12:110370840G>T	ENST00000360185.4	-	19	2237	c.2073C>A	c.(2071-2073)gaC>gaA	p.D691E	GIT2_ENST00000553118.1_Missense_Mutation_p.D613E|GIT2_ENST00000355312.3_Missense_Mutation_p.D741E|GIT2_ENST00000356259.4_Missense_Mutation_p.D628E|GIT2_ENST00000338373.5_Missense_Mutation_p.D643E|GIT2_ENST00000343646.5_Missense_Mutation_p.D631E|GIT2_ENST00000551209.1_Missense_Mutation_p.D690E|GIT2_ENST00000457474.2_Missense_Mutation_p.D663E|GIT2_ENST00000361006.5_Missense_Mutation_p.D711E|GIT2_ENST00000354574.4_Missense_Mutation_p.D663E			Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	741					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						CCTTGGCGATGTCGTACGCAC	0.567000													10	47					3.86212e-05	4.0563e-05	1	1	0
SNX19	399979	broad.mit.edu	37	11	130785621	130785621	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr11:130785621C>T	ENST00000265909.4	-	1	783	c.214G>A	c.(214-216)Gtg>Atg	p.V72M	SNX19_ENST00000533318.1_Intron|SNX19_ENST00000528555.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.V72M|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000539184.1_Intron	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN	sorting nexin 19	72					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		CCTGAAGCCACTCCAGCGAGG	0.607000													17	35					0	0	1	0	0
LINGO1	84894	broad.mit.edu	37	15	77906970	77906970	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr15:77906970G>A	ENST00000355300.6	-	2	1453	c.1279C>T	c.(1279-1281)Cgg>Tgg	p.R427W	LINGO1_ENST00000561030.1_Missense_Mutation_p.R421W	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	427	Ig-like C2-type.				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						TTGCGGTCCCGGATGCGGGCG	0.672000													3	25					0	0	1	0	0
FMNL3	91010	broad.mit.edu	37	12	50041554	50041554	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr12:50041554C>T	ENST00000335154.5	-	23	2943	c.2710G>A	c.(2710-2712)Gag>Aag	p.E904K	FMNL3_ENST00000293590.5_Missense_Mutation_p.E904K|FMNL3_ENST00000550488.1_Missense_Mutation_p.E903K|FMNL3_ENST00000352151.5_Missense_Mutation_p.E853K	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	904	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TTGGGACTCTCGCCAAAGTAG	0.517000													19	48					0	0	1	0	0
CUL2	8453	broad.mit.edu	37	10	35299242	35299242	+	Silent	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr10:35299242C>T	ENST00000374748.1	-	22	2548	c.2235G>A	c.(2233-2235)gcG>gcA	p.A745A	CUL2_ENST00000374742.1_Silent_p.A706A|CUL2_ENST00000602371.1_Silent_p.A688A|CUL2_ENST00000374751.3_Silent_p.A745A|CUL2_ENST00000537177.1_Silent_p.A764A|CUL2_ENST00000374746.1_Silent_p.A706A|CUL2_ENST00000374749.3_Silent_p.A745A			Q13617	CUL2_HUMAN	cullin 2	745					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						AGCGACATCACGCGACGTAGC	0.473000													6	46					0	0	1	0	0
HSPA13	6782	broad.mit.edu	37	21	15746392	15746392	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr21:15746392G>C	ENST00000285667.3	-	5	1029	c.962C>G	c.(961-963)cCt>cGt	p.P321R	HSPA13_ENST00000544452.1_Missense_Mutation_p.P113R	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	321						endoplasmic reticulum|microsome	ATP binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						ACTACTGTGAGGTTCCTTCCT	0.448000													30	34					0	0	1	0	0
NME8	51314	broad.mit.edu	37	7	37890269	37890269	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr7:37890269G>A	ENST00000199447.4	+	5	502	c.130G>A	c.(130-132)Gca>Aca	p.A44T	NME8_ENST00000440017.1_Missense_Mutation_p.A44T|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	44	Thioredoxin.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										ACCTTGCAGAGCAATGCAACC	0.348000													50	112					0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140811264	140811264	+	Silent	SNP	C	C	T	rs61737612	by1000genomes	TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr4:140811264C>T	ENST00000509479.2	-	2	2182	c.1326G>A	c.(1324-1326)ccG>ccA	p.P442P	MAML3_ENST00000327122.5_Silent_p.P286P	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	442					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					TCACTGCTGCCGGATTCAGGA	0.587000													5	48					0	0	1	0	0
CHRM3	1131	broad.mit.edu	37	1	240070964	240070964	+	Silent	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr1:240070964C>T	ENST00000255380.4	+	5	992	c.213C>T	c.(211-213)atC>atT	p.I71I		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	71					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	TGGTCTTCATCGCTTTCTTAA	0.512000													22	71					0	0	1	0	0
BPHL	670	broad.mit.edu	37	6	3123964	3123964	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr6:3123964C>T	ENST00000380368.2	+	3	774	c.130C>T	c.(130-132)Cac>Tac	p.H44Y	BPHL_ENST00000434640.1_Missense_Mutation_p.H44Y|BPHL_ENST00000380379.5_Missense_Mutation_p.H61Y|BPHL_ENST00000380375.3_Missense_Mutation_p.H44Y			Q86WA6	BPHL_HUMAN	biphenyl hydrolase-like (serine hydrolase)	61					cellular amino acid metabolic process|response to toxin	mitochondrion	hydrolase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)	13	Ovarian(93;0.0386)	all_hematologic(90;0.108)				AGAGGGAGATCACGCAGTCCT	0.458000													26	85					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883981	228883981	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr2:228883981G>C	ENST00000392056.3	-	7	1635	c.1589C>G	c.(1588-1590)cCa>cGa	p.P530R	SPHKAP_ENST00000344657.5_Missense_Mutation_p.P530R	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	530						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ACTGCTCCCTGGGGGAAAGTT	0.507000													14	86					0	0	1	0	0
WDR41	55255	broad.mit.edu	37	5	76758924	76758924	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr5:76758924A>G	ENST00000296679.4	-	4	719	c.344T>C	c.(343-345)gTt>gCt	p.V115A	WDR41_ENST00000507029.1_Missense_Mutation_p.V60A|WDR41_ENST00000414719.2_5'UTR	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	115										NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		GGATACAATAACTGTTCTATC	0.378000													13	19					0	0	1	0	0
IQCH	64799	broad.mit.edu	37	15	67664575	67664575	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr15:67664575G>C	ENST00000335894.4	+	9	946	c.880G>C	c.(880-882)Gct>Cct	p.A294P	IQCH_ENST00000546225.1_Missense_Mutation_p.A42P|IQCH_ENST00000358767.3_Missense_Mutation_p.A121P|IQCH_ENST00000360277.4_Missense_Mutation_p.A46P	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	294										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		TTTTAGCTTAGCTTGGGGAGG	0.393000													6	58					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179443337	179443337	+	Splice_Site	SNP	C	C	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr2:179443337C>A	ENST00000589042.1	-	321	68554		c.e321+1		TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Splice_Site|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Splice_Site|TTN_ENST00000359218.5_Splice_Site|TTN_ENST00000342992.6_Splice_Site|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Splice_Site|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin								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)			AAACAAAATACCTGTAATTGG	0.408000													8	22					0.00448238	0.00460485	1	1	0
SYNE1	23345	broad.mit.edu	37	6	152469240	152469240	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr6:152469240C>T	ENST00000367255.5	-	137	25517	c.24916G>A	c.(24916-24918)Gag>Aag	p.E8306K	SYNE1_ENST00000354674.4_Missense_Mutation_p.E461K|SYNE1_ENST00000539504.1_Missense_Mutation_p.E461K|SYNE1_ENST00000356820.4_Missense_Mutation_p.E2830K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E8235K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E8306K|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000423061.1_Missense_Mutation_p.E8235K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E7918K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8306					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)		TCTTCATCCTCAGAGGGCAGA	0.542000										HNSCC(10;0.0054)			11	45					0	0	1	0	0
OR5M8	219484	broad.mit.edu	37	11	56258603	56258603	+	Nonsense_Mutation	SNP	C	C	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr11:56258603C>A	ENST00000327216.2	-	1	268	c.244G>T	c.(244-246)Gag>Tag	p.E82*		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					AGGAAAATCTCCAGCATCTTT	0.478000													12	60					2.80697e-09	3.12255e-09	1	1	0
CD209	30835	broad.mit.edu	37	19	7807999	7807999	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr19:7807999C>T	ENST00000315599.7	-	7	1163	c.1141G>A	c.(1141-1143)Gca>Aca	p.A381T	CD209_ENST00000593821.1_Missense_Mutation_p.A245T|CD209_ENST00000593660.1_Missense_Mutation_p.A311T|CD209_ENST00000394161.5_Missense_Mutation_p.A145T|CD209_ENST00000394173.4_Missense_Mutation_p.A220T|CD209_ENST00000601951.1_Missense_Mutation_p.A357T|CD209_ENST00000301357.8_Missense_Mutation_p.A245T|CD209_ENST00000204801.8_Missense_Mutation_p.A337T|CD209_ENST00000602261.1_Missense_Mutation_p.A289T|CD209_ENST00000315591.8_Missense_Mutation_p.A357T|CD209_ENST00000354397.6_Missense_Mutation_p.A375T	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	381					cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CAGGAGGCTGCGGACTTTTTG	0.532000													50	122					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168100081	168100081	+	Nonsense_Mutation	SNP	G	G	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr2:168100081G>T	ENST00000409195.1	+	9	2268	c.2179G>T	c.(2179-2181)Gga>Tga	p.G727*	XIRP2_ENST00000295237.9_Nonsense_Mutation_p.G727*|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Nonsense_Mutation_p.G505*|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	552					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGAAATTAAGGGAAATGTTAA	0.353000													15	42					3.27435e-08	3.62105e-08	1	1	0
ATP13A4	84239	broad.mit.edu	37	3	193220321	193220321	+	Silent	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr3:193220321C>T	ENST00000342695.4	-	3	664	c.342G>A	c.(340-342)gaG>gaA	p.E114E	ATP13A4_ENST00000295548.3_Silent_p.E114E|ATP13A4_ENST00000392443.3_Silent_p.E114E	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	114					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TTATGATATACTCCTCATCTG	0.393000													33	93					0	0	1	0	0
SCYL3	57147	broad.mit.edu	37	1	169824959	169824959	+	Silent	SNP	G	G	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr1:169824959G>A	ENST00000367772.4	-	12	1649	c.1452C>T	c.(1450-1452)taC>taT	p.Y484Y	SCYL3_ENST00000367771.5_Intron|SCYL3_ENST00000367770.1_Silent_p.Y484Y	NM_181093.3	NP_851607.2	Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	484					cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GAGTATTGTAGTAATCTCGCT	0.383000													7	42					0	0	1	0	0
DENND6B	414918	broad.mit.edu	37	22	50754160	50754160	+	Silent	SNP	G	G	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr22:50754160G>A	ENST00000413817.2	-	9	812	c.741C>T	c.(739-741)caC>caT	p.H247H	XX-C283C717.1_ENST00000453835.1_RNA	NM_001001794.3	NP_001001794.3			DENN/MADD domain containing 6B																		GGTCCAGCTCGTGGACGCTAG	0.602000													4	12					0	0	1	0	0
SRRM1	10250	broad.mit.edu	37	1	24993386	24993386	+	Missense_Mutation	SNP	G	G	T	rs78787676	byFrequency	TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr1:24993386G>T	ENST00000323848.9	+	13	2024	c.1709G>T	c.(1708-1710)cGc>cTc	p.R570L	SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.R582L|SRRM1_ENST00000374389.4_Missense_Mutation_p.R579L|SRRM1_ENST00000537199.1_3'UTR	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	570	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding	p.R570L(2)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CCTCGACGGCGCAGGACTCCC	0.557000													4	53					1.024e-07	1.11926e-07	1	1	0
HCN1	348980	broad.mit.edu	37	5	45462091	45462091	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr5:45462091C>G	ENST00000303230.4	-	3	925	c.868G>C	c.(868-870)Gat>Cat	p.D290H		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	290						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.D290N(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTGGCGAGATCATATGTCATG	0.373000													15	36					0	0	1	0	0
HSP90AB2P	391634	broad.mit.edu	37	4	13339892	13339892	+	RNA	SNP	G	G	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr4:13339892G>A	ENST00000602906.1	+	0	1243																				kidney(3)|lung(1)	4						ACCTACAGCTGGACAGCCAAT	0.488000													9	41					0	0	1	0	0
STK10	6793	broad.mit.edu	37	5	171520497	171520497	+	Silent	SNP	G	G	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr5:171520497G>A	ENST00000176763.5	-	9	1816	c.1473C>T	c.(1471-1473)tgC>tgT	p.C491C	STK10_ENST00000517775.1_5'UTR	NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	491							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCTCAGAGGTGCAGAGGCTGC	0.597000													48	80					0	0	1	0	0
OLIG3	167826	broad.mit.edu	37	6	137815225	137815225	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr6:137815225C>T	ENST00000367734.2	-	1	306	c.83G>A	c.(82-84)cGc>cAc	p.R28H		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	28	Poly-His.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		gtggtggtggcggtggtggtg	0.587000													4	84					0	0	1	0	0
PNLIPRP1	5407	broad.mit.edu	37	10	118354364	118354364	+	Silent	SNP	C	C	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr10:118354364C>A	ENST00000528052.1	+	5	524	c.453C>A	c.(451-453)ctC>ctA	p.L151L	PNLIPRP1_ENST00000534537.1_Silent_p.L151L|PNLIPRP1_ENST00000358834.4_Silent_p.L151L			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	151					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		CCCAGATGCTCGACATCCTCT	0.572000													9	31					4.68919e-08	5.15537e-08	1	1	0
ZNF675	171392	broad.mit.edu	37	19	23836269	23836269	+	Missense_Mutation	SNP	A	A	C			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr19:23836269A>C	ENST00000359788.4	-	4	1634	c.1466T>G	c.(1465-1467)tTt>tGt	p.F489C	ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000600313.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	489					bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				GGAGTGTTTAAAAGCTTTGCC	0.378000													13	33					0	0	1	0	0
ZNF142	7701	broad.mit.edu	37	2	219515169	219515169	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr2:219515169C>T	ENST00000411696.2	-	4	1140	c.361G>A	c.(361-363)Gag>Aag	p.E121K	ZNF142_ENST00000449707.1_Missense_Mutation_p.E121K			P52746	ZN142_HUMAN	zinc finger protein 142	121					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TCTACATTCTCCTCTTCAGCT	0.512000													61	180					0	0	1	0	0
SLFN5	162394	broad.mit.edu	37	17	33586247	33586247	+	Missense_Mutation	SNP	C	C	T	rs139273106		TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr17:33586247C>T	ENST00000299977.4	+	2	686	c.538C>T	c.(538-540)Cgg>Tgg	p.R180W	SLFN5_ENST00000542451.1_Missense_Mutation_p.R180W|SLFN5_ENST00000592325.1_Missense_Mutation_p.R180W	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	180					cell differentiation		ATP binding	p.R180W(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		TGATAGAAAGCGGCTTCAGTA	0.403000													48	95					0	0	1	0	0
ZNF599	148103	broad.mit.edu	37	19	35251387	35251387	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr19:35251387G>A	ENST00000329285.7	-	4	692	c.319C>T	c.(319-321)Ctt>Ttt	p.L107F		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	107					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TGTGCCAGAAGTTCCTGGAAA	0.438000													21	99					0	0	1	0	0
TCP11	6954	broad.mit.edu	37	6	35088707	35088707	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr6:35088707C>T	ENST00000311875.5	-	6	1150	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K	TCP11_ENST00000512012.1_Missense_Mutation_p.E232K|TCP11_ENST00000244645.3_Missense_Mutation_p.E170K|TCP11_ENST00000412155.2_Missense_Mutation_p.E194K|TCP11_ENST00000373974.4_Missense_Mutation_p.E199K|TCP11_ENST00000444780.2_Missense_Mutation_p.E240K|TCP11_ENST00000373979.2_Missense_Mutation_p.E170K|TCP11_ENST00000418521.2_Missense_Mutation_p.E169K			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	232					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						TTGAGGAGTTCCTGGAATTTA	0.443000													51	286					0	0	1	0	0
SMC4	10051	broad.mit.edu	37	3	160150976	160150976	+	Silent	SNP	C	C	G			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr3:160150976C>G	ENST00000357388.3	+	23	4144	c.3693C>G	c.(3691-3693)tcC>tcG	p.S1231S	SMC4_ENST00000469762.1_Silent_p.S1206S|SMC4_ENST00000360111.2_Silent_p.S1173S|TRIM59_ENST00000543469.1_3'UTR|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000344722.5_Silent_p.S1231S|SMC4_ENST00000462787.1_Silent_p.S1173S	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	1231					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AAAATGTGTCCATTGTTGCAT	0.338000													4	115					0	0	1	0	0
PLCG1	5335	broad.mit.edu	37	20	39791907	39791907	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr20:39791907T>C	ENST00000373272.2	+	8	1186	c.781T>C	c.(781-783)Tac>Cac	p.Y261H	PLCG1_ENST00000244007.3_Missense_Mutation_p.Y261H|PLCG1_ENST00000373271.1_Missense_Mutation_p.Y261H	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	261					activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				CCTTCTTGACTACCAGGGGGT	0.612000													34	104					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1266085	1266085	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr11:1266085C>G	ENST00000447027.1	+	31	8042	c.7984C>G	c.(7984-7986)Ccc>Gcc	p.P2662A	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.P2659A			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2659	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.P2638A(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACCCACACCCCCACAGTGCT	0.617000													5	50					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9457384	9457384	+	Silent	SNP	A	A	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr20:9457384A>T	ENST00000378501.2	+	35	3495	c.3480A>T	c.(3478-3480)gcA>gcT	p.A1160A	PLCB4_ENST00000414679.2_Intron|PLCB4_ENST00000378473.3_Intron|PLCB4_ENST00000378493.1_Intron|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Silent_p.A1160A|PLCB4_ENST00000278655.4_Intron	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	493					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						CCTGTCATGCAGTGTCCCAAA	0.373000													5	29					0	0	1	0	0
MT-CO2	4513	broad.mit.edu	37	MT	7919	7919	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chrM:7919G>A	ENST00000361739.1	+	1	334	c.334G>A	c.(334-336)Gac>Aac	p.D112N						mitochondrially encoded cytochrome c oxidase II											endometrium(5)|kidney(8)|lung(2)|pancreas(3)|prostate(1)	19						ACGAGTACACCGACTACGGCG	0.493000													16	3					0	0	1	0	0
CHML	1122	broad.mit.edu	37	1	241797858	241797858	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr1:241797858T>A	ENST00000366553.1	-	1	1374	c.1211A>T	c.(1210-1212)cAt>cTt	p.H404L	OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	404					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TTGTACTTTATGACGAAGACA	0.378000													26	56					0	0	1	0	0
SPDEF	25803	broad.mit.edu	37	6	34511953	34511953	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr6:34511953G>A	ENST00000374037.3	-	2	694	c.280C>T	c.(280-282)Ccg>Tcg	p.P94S	SPDEF_ENST00000544425.1_Missense_Mutation_p.P94S	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	94					negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						TCAATGACCGGGCACTGCTCA	0.662000													14	55					0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57415489	57415489	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr20:57415489G>C	ENST00000313949.7	+	1	717	c.328G>C	c.(328-330)Gag>Cag	p.E110Q	GNAS-AS1_ENST00000598163.1_RNA|GNAS-AS1_ENST00000424094.2_RNA|GNAS_ENST00000371098.2_Missense_Mutation_p.E110Q|GNAS-AS1_ENST00000443966.1_RNA|GNAS_ENST00000371075.3_Missense_Mutation_p.E110Q			P63092	GNAS2_HUMAN	GNAS complex locus	123					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	p.E110K(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GTTCGACTACGAGACCGAGAG	0.622000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			10	130					0	0	1	0	0
THNSL1	79896	broad.mit.edu	37	10	25313350	25313350	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr10:25313350A>G	ENST00000524413.1	+	3	1545	c.1198A>G	c.(1198-1200)Agg>Ggg	p.R400G	THNSL1_ENST00000376356.4_Missense_Mutation_p.R400G			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	400					threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)	TGATAAGCAAAGGATAGCTGT	0.393000													38	64					0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97821155	97821155	+	Nonsense_Mutation	SNP	G	G	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr7:97821155G>T	ENST00000297293.5	+	11	1671	c.1378G>T	c.(1378-1380)Gag>Tag	p.E460*		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	460					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)					TCGTGAAATGGAGGAAGTCCT	0.587000													13	55					5.50884e-06	5.85119e-06	1	1	0
ZNF479	90827	broad.mit.edu	37	7	57188272	57188272	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr7:57188272G>C	ENST00000331162.4	-	5	1120	c.850C>G	c.(850-852)Ctt>Gtt	p.L284V		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	284					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TGGTTAGTAAGTGCTGAGGAG	0.463000													18	137					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79032587	79032587	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr5:79032587C>T	ENST00000446378.2	+	2	8030	c.7999C>T	c.(7999-8001)Cca>Tca	p.P2667S		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2667						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CAGAGATATGCCAGATCACAG	0.403000													3	33					0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117150019	117150019	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr6:117150019T>C	ENST00000310357.3	-	1	179	c.158A>G	c.(157-159)gAc>gGc	p.D53G	GPRC6A_ENST00000368549.3_Missense_Mutation_p.D53G|GPRC6A_ENST00000530250.1_Missense_Mutation_p.D53G	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	53					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TCTGGGAGAGTCTTCTGAGGA	0.428000													19	48					0	0	1	0	0
ABCC5	10057	broad.mit.edu	37	3	183671041	183671041	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr3:183671041C>T	ENST00000334444.6	-	18	2740	c.2500G>A	c.(2500-2502)Gaa>Aaa	p.E834K	ABCC5_ENST00000265586.6_Missense_Mutation_p.E834K	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	834						integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCTTTCTCTTCCAGCTGCACA	0.483000													11	67					0	0	1	0	0
NBEAL1	65065	broad.mit.edu	37	2	204066426	204066426	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr2:204066426A>G	ENST00000449802.1	+	49	7645	c.7312A>G	c.(7312-7314)Atc>Gtc	p.I2438V		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2438							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CTCACACATCATCCGGCATAT	0.343000													20	56					0	0	1	0	0
ZNF765	91661	broad.mit.edu	37	19	53911046	53911046	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr19:53911046C>G	ENST00000396408.3	+	4	355	c.238C>G	c.(238-240)Cat>Gat	p.H80D	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	80	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		ACATGAAAGTCATCACAATGG	0.383000													12	46					0	0	1	0	0
GLOD4	51031	broad.mit.edu	37	17	681930	681930	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr17:681930C>T	ENST00000536578.1	-	3	337	c.45G>A	c.(43-45)atG>atA	p.M15I	GLOD4_ENST00000301328.5_Intron|GLOD4_ENST00000301329.6_Intron			Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	0						mitochondrion				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		AACAAGGTATCATACCCATTA	0.403000													9	24					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102472319	102472319	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr14:102472319G>A	ENST00000360184.4	+	27	5692	c.5528G>A	c.(5527-5529)cGa>cAa	p.R1843Q		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1843	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AGCCAGATGCGATTTTACTTT	0.408000													5	165					0	0	1	0	0
DNM2	1785	broad.mit.edu	37	19	10935874	10935874	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr19:10935874A>G	ENST00000314646.5	+	18	2199	c.2035A>G	c.(2035-2037)Atc>Gtc	p.I679V	DNM2_ENST00000389253.4_Missense_Mutation_p.I679V|DNM2_ENST00000359692.6_Missense_Mutation_p.I675V|DNM2_ENST00000408974.4_Missense_Mutation_p.I675V|DNM2_ENST00000585892.1_Missense_Mutation_p.I679V|DNM2_ENST00000355667.6_Missense_Mutation_p.I679V			P50570	DYN2_HUMAN	dynamin 2	679	GED.				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			GCCAAAGACCATCATGCACCT	0.547000			"""F, N, Splice, Mis, O"""		ETP ALL								8	100					0	0	1	0	0
NPY2R	4887	broad.mit.edu	37	4	156135461	156135461	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr4:156135461C>G	ENST00000329476.3	+	2	859	c.370C>G	c.(370-372)Cac>Gac	p.H124D	NPY2R_ENST00000506608.1_Missense_Mutation_p.H124D	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	124					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				TGTCCTGTGCCACCTGGTGCC	0.527000													9	49					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78321853	78321853	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr17:78321853C>T	ENST00000582970.1	+	29	9861	c.9718C>T	c.(9718-9720)Cgg>Tgg	p.R3240W	RNF213_ENST00000508628.2_Missense_Mutation_p.R3289W|RNF213_ENST00000336301.6_Missense_Mutation_p.R1313W	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCAGGGTCCCCGGGCCTTGAC	0.617000													22	59					0	0	1	0	0
IRAK4	51135	broad.mit.edu	37	12	44166765	44166765	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr12:44166765G>A	ENST00000431837.1	+	4	477	c.169G>A	c.(169-171)Gat>Aat	p.D57N	IRAK4_ENST00000440781.2_Missense_Mutation_p.D57N|IRAK4_ENST00000448290.2_Missense_Mutation_p.D181N|IRAK4_ENST00000551736.1_Missense_Mutation_p.D181N	NM_001145256.1|NM_001145257.1	NP_001138728.1|NP_001138729.1	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	181	Death.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		AAATAACTTTGATGAACGACC	0.308000													6	42					0	0	1	0	0
DCUN1D4	23142	broad.mit.edu	37	4	52765532	52765532	+	Silent	SNP	T	T	C			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr4:52765532T>C	ENST00000334635.5	+	8	783	c.603T>C	c.(601-603)ttT>ttC	p.F201F	DCUN1D4_ENST00000451288.2_Silent_p.F245F|DCUN1D4_ENST00000381441.3_Silent_p.F201F|DCUN1D4_ENST00000381437.4_Silent_p.F141F	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4	201	DCUN1.									endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			GATATGCGTTTGACTTTGCAC	0.363000													4	47					0	0	1	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187703778	187703778	+	Silent	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr2:187703778C>T	ENST00000295131.2	-	4	441	c.402G>A	c.(400-402)ggG>ggA	p.G134G		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	134					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			GTTTAATGTACCCATCTTCTT	0.398000													41	157					0	0	1	0	0
TLR9	54106	broad.mit.edu	37	3	52256957	52256957	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr3:52256957C>T	ENST00000597542.1	-	9	2404	c.1447G>A	c.(1447-1449)Gac>Aac	p.D483N	TLR9_ENST00000360658.2_Missense_Mutation_p.D459N|TLR9_ENST00000494383.1_Missense_Mutation_p.G612E			Q9NR96	TLR9_HUMAN	toll-like receptor 9	459					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	CTGGGAGTGTCCACTGGGGCC	0.622000													29	72					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10415858	10415858	+	Silent	SNP	G	G	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr17:10415858G>A	ENST00000226207.5	-	12	1108	c.1014C>T	c.(1012-1014)gcC>gcT	p.A338A	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	338	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GAATTTCAATGGCACTCTACC	0.398000													6	82					0	0	1	0	0
RAB7A	7879	broad.mit.edu	37	3	128525319	128525319	+	Silent	SNP	A	A	C			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr3:128525319A>C	ENST00000265062.3	+	4	531	c.285A>C	c.(283-285)acA>acC	p.T95T	RAB7A_ENST00000482525.1_Intron|RAB7A_ENST00000485280.1_Intron	NM_004637.5	NP_004628.4	P51149	RAB7A_HUMAN	RAB7A, member RAS oncogene family	95					endocytosis|endosome to lysosome transport|epidermal growth factor catabolic process|protein transport|small GTPase mediated signal transduction	Golgi apparatus|late endosome|lysosome|melanosome|phagocytic vesicle	GDP binding|GTP binding|GTPase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(114;0.231)		CCCCCAACACATTCAAAACCC	0.512000													26	79					0	0	1	0	0
SOD3	6649	broad.mit.edu	37	4	24801406	24801406	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr4:24801406C>T	ENST00000382120.3	+	2	468	c.263C>T	c.(262-264)gCg>gTg	p.A88V		NM_003102.2	NP_003093.2	P08294	SODE_HUMAN	superoxide dismutase 3, extracellular	88					removal of superoxide radicals	extracellular space|nucleus|soluble fraction	copper ion binding|heparin binding|protein binding|superoxide dismutase activity|zinc ion binding			prostate(1)|urinary_tract(1)	2		Breast(46;0.0503)				CGGCAGCTTGCGCCCCGCGCC	0.741000													5	16					0	0	1	0	0
GGH	8836	broad.mit.edu	37	8	63939806	63939806	+	Silent	SNP	T	T	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr8:63939806T>A	ENST00000260118.6	-	4	696	c.294A>T	c.(292-294)ggA>ggT	p.G98G	GGH_ENST00000518113.1_5'UTR	NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	98	Gamma-glutamyl hydrolase.				glutamine metabolic process	extracellular space|lysosome|melanosome	gamma-glutamyl-peptidase activity			breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|L-Glutamic Acid(DB00142)	GGTCAACACTTCCTCCAGGGA	0.368000													18	61					0	0	1	0	0
KCNMA1	3778	broad.mit.edu	37	10	79163724	79163724	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr10:79163724C>T	ENST00000286627.5	-	2	1388	c.436G>A	c.(436-438)Gat>Aat	p.D146N	KCNMA1_ENST00000354353.5_Missense_Mutation_p.D146N|KCNMA1_ENST00000406533.3_Missense_Mutation_p.D146N|KCNMA1_ENST00000372443.1_Missense_Mutation_p.D146N|KCNMA1_ENST00000404857.1_Missense_Mutation_p.D146N|KCNMA1_ENST00000286628.8_Missense_Mutation_p.D146N|KCNMA1_ENST00000404771.3_Missense_Mutation_p.D146N|KCNMA1_ENST00000372440.1_Missense_Mutation_p.D146N	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	146					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TCTTTTTCATCCACTGGTTTG	0.562000													11	57					0	0	1	0	0
CCDC62	84660	broad.mit.edu	37	12	123265746	123265746	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr12:123265746C>T	ENST00000253079.6	+	3	609	c.265C>T	c.(265-267)Ctc>Ttc	p.L89F	CCDC62_ENST00000392441.4_Missense_Mutation_p.L89F|CCDC62_ENST00000537566.1_5'UTR	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	89						cytoplasm|nucleus				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		AATCAGGTCACTCACGAAGAA	0.383000													6	54					0	0	1	0	0
SLC22A7	10864	broad.mit.edu	37	6	43266252	43266252	+	Silent	SNP	G	G	A	rs144441599	byFrequency	TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr6:43266252G>A	ENST00000372585.5	+	1	251	c.156G>A	c.(154-156)ccG>ccA	p.P52P	SLC22A7_ENST00000372574.3_Silent_p.P52P|SLC22A7_ENST00000487175.1_Intron|SLC22A7_ENST00000372589.3_Silent_p.P52P	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	52						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			GTGCCCTGCCGGGTGCCCCTG	0.657000													5	58					0	0	1	0	0
CUL3	8452	broad.mit.edu	37	2	225342986	225342986	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr2:225342986C>G	ENST00000264414.4	-	15	2444	c.2106G>C	c.(2104-2106)gaG>gaC	p.E702D	CUL3_ENST00000409096.1_Missense_Mutation_p.E678D|CUL3_ENST00000344951.4_Missense_Mutation_p.E636D|CUL3_ENST00000409777.1_Missense_Mutation_p.E678D	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	702					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding	p.E702D(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CAGCTTCTATCTCATGTTTTC	0.408000													30	80					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33684143	33684143	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr5:33684143G>A	ENST00000504830.1	-	4	987	c.652C>T	c.(652-654)Cag>Tag	p.Q218*	ADAMTS12_ENST00000352040.3_Nonsense_Mutation_p.Q218*|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	218					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCTTGCTTCTGGGAGATGTTA	0.453000										HNSCC(64;0.19)			6	50					0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19563522	19563522	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr14:19563522G>C	ENST00000409832.3	+	5	1088	c.1036G>C	c.(1036-1038)Gtt>Ctt	p.V346L	CTD-2311B13.5_ENST00000548748.1_lincRNA	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	346										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AGAGTATGCTGTTTCTAGTCA	0.348000													29	538					0	0	1	0	0
FNDC3B	64778	broad.mit.edu	37	3	171969269	171969269	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr3:171969269G>A	ENST00000336824.4	+	6	827	c.728G>A	c.(727-729)gGa>gAa	p.G243E	FNDC3B_ENST00000416957.1_Missense_Mutation_p.G243E|FNDC3B_ENST00000415807.2_Missense_Mutation_p.G243E	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	243	Poly-Gly.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		AGTGGTCCCGGAATTAAGAAA	0.473000													15	59					0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19027866	19027866	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr16:19027866C>T	ENST00000421369.3	+	3	634	c.76C>T	c.(76-78)Cga>Tga	p.R26*	TMC7_ENST00000569532.1_Nonsense_Mutation_p.R136*|TMC7_ENST00000304381.5_Nonsense_Mutation_p.R136*	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	136						integral to membrane		p.R136R(1)		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						AGAGAAGGCTCGAGAGATGAC	0.542000													8	40					0	0	1	0	0
RTKN	6242	broad.mit.edu	37	2	74659633	74659633	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr2:74659633C>T	ENST00000305557.5	-	3	818	c.233G>A	c.(232-234)cGg>cAg	p.R78Q	RTKN_ENST00000272430.5_Missense_Mutation_p.R91Q|RTKN_ENST00000233330.6_Missense_Mutation_p.R41Q	NM_033046.2	NP_149035.1	Q9BST9	RTKN_HUMAN	rhotekin	91					apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity			endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						CTCCTTGCGCCGCTGCAGCTC	0.672000													19	141					0	0	1	0	0
ANKRD6	22881	broad.mit.edu	37	6	90276732	90276732	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr6:90276732C>T	ENST00000369408.5	+	2	386	c.37C>T	c.(37-39)Cgc>Tgc	p.R13C	ANKRD6_ENST00000520793.1_Missense_Mutation_p.R13C|ANKRD6_ENST00000520886.2_Intron|ANKRD6_ENST00000485637.1_Missense_Mutation_p.R13C|ANKRD6_ENST00000339746.4_Missense_Mutation_p.R13C|RP11-16C18.3_ENST00000438267.1_RNA|ANKRD6_ENST00000522441.1_Missense_Mutation_p.R13C|ANKRD6_ENST00000447838.2_Missense_Mutation_p.R13C	NM_001242813.1	NP_001229742.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	13							protein binding			NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		ACTTTCAGAGCGCCTTCTCGT	0.488000													7	14					0	0	1	0	0
SLC25A21	89874	broad.mit.edu	37	14	37153953	37153953	+	Nonsense_Mutation	SNP	C	C	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr14:37153953C>A	ENST00000331299.5	-	8	1296	c.781G>T	c.(781-783)Gaa>Taa	p.E261*	SLC25A21_ENST00000555449.1_Nonsense_Mutation_p.E261*	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial oxoadipate carrier), member 21	261					lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		TGTTACCCTTCTTCCTGATAG	0.388000													35	113					1.42033e-22	1.58942e-22	1	1	0
SNW1	22938	broad.mit.edu	37	14	78205121	78205121	+	Splice_Site	SNP	C	C	G			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr14:78205121C>G	ENST00000261531.7	-	5	595	c.533_splice	c.e5+1	p.R178_splice	SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000554775.1_Splice_Site_p.R16_splice|SNW1_ENST00000555761.1_Splice_Site_p.R178_splice	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	178	SNW.				negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		TGATTCATACCGGATATACTG	0.433000													10	63					0	0	1	0	0
SPG11	80208	broad.mit.edu	37	15	44892690	44892690	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr15:44892690T>C	ENST00000261866.7	-	21	3677	c.3661A>G	c.(3661-3663)Atc>Gtc	p.I1221V	SPG11_ENST00000558319.1_Missense_Mutation_p.I1221V|SPG11_ENST00000535302.2_Missense_Mutation_p.I1221V|SPG11_ENST00000427534.2_Missense_Mutation_p.I1221V	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1221					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)		TTGCTCTTGATTAATTCCTGG	0.393000													25	121					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139207536	139207536	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr8:139207536C>T	ENST00000395297.1	-	9	1008	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	280										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGTGTTTCTTCAACAGCAAGG	0.408000										HNSCC(54;0.14)			14	78					0	0	1	0	0
MT-ND5	4540	broad.mit.edu	37	MT	13369	13369	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chrM:13369T>C	ENST00000361567.2	+	1	1033	c.1033T>C	c.(1033-1035)Tcc>Ccc	p.S345P				P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	345					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74					NADH(DB00157)	TGTGCTCCGGGTCCATCATCC	0.448000													7	3					0	0	1	0	0
FBXL7	23194	broad.mit.edu	37	5	15936735	15936735	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr5:15936735C>T	ENST00000504595.1	+	4	1397	c.916C>T	c.(916-918)Cgc>Tgc	p.R306C	FBXL7_ENST00000329673.7_Missense_Mutation_p.R294C|FBXL7_ENST00000510662.1_Missense_Mutation_p.R259C	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	306					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.R306C(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CCTCTACCTGCGCCGCTGCGT	0.647000													21	28					0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1440030	1440030	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr2:1440030T>C	ENST00000345913.4	+	5	447	c.356T>C	c.(355-357)tTa>tCa	p.L119S	TPO_ENST00000329066.4_Missense_Mutation_p.L119S|TPO_ENST00000346956.3_Missense_Mutation_p.L119S|TPO_ENST00000349624.3_Missense_Mutation_p.L119S|TPO_ENST00000382201.3_Missense_Mutation_p.L119S|TPO_ENST00000539820.1_Missense_Mutation_p.L119S|TPO_ENST00000382198.1_Missense_Mutation_p.L119S|TPO_ENST00000337415.3_Missense_Mutation_p.L119S|TPO_ENST00000497517.2_Intron|TPO_ENST00000382269.3_Missense_Mutation_p.L119S	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	119					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	ACAGATGCTTTATCAGAAGAT	0.423000													13	82					0	0	1	0	0
BOC	91653	broad.mit.edu	37	3	112989708	112989708	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr3:112989708A>T	ENST00000495514.1	+	6	1288	c.584A>T	c.(583-585)gAg>gTg	p.E195V	BOC_ENST00000355385.3_Missense_Mutation_p.E195V|BOC_ENST00000273395.4_Missense_Mutation_p.E195V			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	195	Ig-like C2-type 2.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			CAGGAGGACGAGGGCATGTAC	0.607000													47	131					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65270407	65270407	+	RNA	SNP	A	A	G			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr11:65270407A>G	ENST00000534336.1	+	0	5175					NR_002819.2																						GAGAAATACAATGAAGAGGCA	0.294000													9	8					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144995673	144995673	+	Silent	SNP	G	G	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr8:144995673G>A	ENST00000322810.4	-	32	8896	c.8727C>T	c.(8725-8727)cgC>cgT	p.R2909R	PLEC_ENST00000354589.3_Silent_p.R2772R|PLEC_ENST00000436759.2_Silent_p.R2799R|PLEC_ENST00000356346.3_Silent_p.R2758R|PLEC_ENST00000357649.2_Silent_p.R2776R|PLEC_ENST00000398774.2_Silent_p.R2740R|PLEC_ENST00000345136.3_Silent_p.R2772R|PLEC_ENST00000354958.2_Silent_p.R2750R|PLEC_ENST00000527096.1_Silent_p.R2795R	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2909	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CAGTGACGGCGCGCTCGGCCG	0.662000													27	75					0	0	1	0	0
GOLGA2P5	55592	broad.mit.edu	37	12	100550594	100550594	+	RNA	SNP	G	G	C			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr12:100550594G>C	ENST00000397112.4	-	0	2227					NR_036632.1															large_intestine(1)|lung(3)	4						TGCTGGCAAGGCTCACCTCAC	0.592000													6	12					0	0	1	0	0
DCTN1	1639	broad.mit.edu	37	2	74597797	74597797	+	Silent	SNP	G	G	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr2:74597797G>A	ENST00000361874.3	-	10	1316	c.999C>T	c.(997-999)gaC>gaT	p.D333D	DCTN1_ENST00000407639.2_Silent_p.D199D|DCTN1_ENST00000409438.1_Silent_p.D199D|DCTN1_ENST00000409868.1_Silent_p.D316D|DCTN1_ENST00000394003.3_Silent_p.D326D|DCTN1_ENST00000409567.3_Silent_p.D313D|DCTN1_ENST00000409240.1_Silent_p.D296D	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	333					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TAGTGAGCTCGTCCACCCGCT	0.582000													17	89					0	0	1	0	0
KIAA1804	84451	broad.mit.edu	37	1	233514966	233514966	+	Silent	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr1:233514966C>T	ENST00000366624.3	+	9	2475	c.2214C>T	c.(2212-2214)gaC>gaT	p.D738D	MLK4_ENST00000366622.1_Silent_p.D184D	NM_032435.2	NP_115811.2																					TGGGACTGGACCTCAGAGAGC	0.542000													23	82					0	0	1	0	0
POM121	9883	broad.mit.edu	37	7	72397439	72397439	+	Silent	SNP	G	G	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr7:72397439G>A	ENST00000395270.1	+	6	1206	c.165G>A	c.(163-165)gaG>gaA	p.E55E	POM121_ENST00000358357.3_Silent_p.E55E|POM121_ENST00000257622.4_Silent_p.E55E|POM121_ENST00000434423.2_Silent_p.E320E|POM121_ENST00000446813.1_Silent_p.E55E	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	320	Required for targeting to the nucleus and nuclear pore complex.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				AAGAGAAGGAGAAGAAAAGGA	0.483000													35	172					0	0	1	0	0
RRP12	23223	broad.mit.edu	37	10	99148069	99148069	+	Silent	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr10:99148069C>T	ENST00000370992.4	-	8	1068	c.957G>A	c.(955-957)ccG>ccA	p.P319P	RRP12_ENST00000315563.6_Silent_p.P219P|RRP12_ENST00000414986.1_Silent_p.P258P|RRP12_ENST00000536831.1_Intron	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	319						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		CCAGGCCTTCCGGGAAGCAGG	0.592000													9	50					0	0	1	0	0
LIMK1	3984	broad.mit.edu	37	7	73530278	73530278	+	Silent	SNP	G	G	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr7:73530278G>A	ENST00000418310.1	+	13	1749	c.1647G>A	c.(1645-1647)gaG>gaA	p.E549E	LIMK1_ENST00000336180.2_Silent_p.E519E|LIMK1_ENST00000538333.3_Silent_p.E485E			P53667	LIMK1_HUMAN	LIM domain kinase 1	519	Protein kinase.				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				TGGCACCTGAGATGATCAACG	0.632000													16	34					0	0	1	0	0
ETFDH	2110	broad.mit.edu	37	4	159627474	159627474	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr4:159627474C>G	ENST00000511912.1	+	11	1751	c.1419C>G	c.(1417-1419)atC>atG	p.I473M	ETFDH_ENST00000307738.5_Missense_Mutation_p.I426M	NM_004453.2	NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	473					fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		ACACTGGAATCTTTTACTGGA	0.388000													15	88					0	0	1	0	0
STX16	8675	broad.mit.edu	37	20	57245658	57245658	+	Splice_Site	SNP	G	G	C			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr20:57245658G>C	ENST00000371141.4	+	6	1371	c.648_splice	c.e6+1	p.R216_splice	STX16_ENST00000359617.4_Splice_Site_p.R163_splice|STX16-NPEPL1_ENST00000530122.1_Splice_Site_p.R216_splice|STX16_ENST00000371132.4_Splice_Site_p.R195_splice|STX16_ENST00000496003.1_3'UTR|STX16_ENST00000358029.4_Splice_Site_p.R212_splice|STX16_ENST00000361770.5_Splice_Site_p.R199_splice|STX16_ENST00000361830.3_Splice_Site_p.R216_splice|STX16_ENST00000355957.5_Splice_Site_p.R199_splice	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	syntaxin 16	216					intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|microsome|SNARE complex	SNAP receptor activity			breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			CTTTACCATCGGGTACGTGAA	0.473000													8	85					0	0	1	0	0
NUPL1	9818	broad.mit.edu	37	13	25883402	25883402	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr13:25883402A>T	ENST00000463407.1	+	3	411	c.268A>T	c.(268-270)Act>Tct	p.T90S	NUPL1_ENST00000466694.1_3'UTR|NUPL1_ENST00000381736.3_Missense_Mutation_p.T90S|NUPL1_ENST00000381718.3_Intron			Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	90	14 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		AACAACTATAACTACAGGATT	0.328000													16	23					0	0	1	0	0
THAP10	56906	broad.mit.edu	37	15	71184275	71184275	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr15:71184275C>T	ENST00000249861.4	-	1	849	c.337G>A	c.(337-339)Gga>Aga	p.G113R	LRRC49_ENST00000544974.2_Intron	NM_020147.3	NP_064532.1	Q9P2Z0	THA10_HUMAN	THAP domain containing 10	113							DNA binding|metal ion binding			NS(1)|kidney(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TGGAGCTCTCCTCGCGTGTCC	0.687000													3	21					0	0	1	0	0
ITLN1	55600	broad.mit.edu	37	1	160850392	160850392	+	Nonsense_Mutation	SNP	G	G	C			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr1:160850392G>C	ENST00000326245.3	-	6	786	c.671C>G	c.(670-672)tCa>tGa	p.S224*	ITLN1_ENST00000487531.1_5'UTR	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	224	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GCCATAGGGTGAGTAATAAGA	0.468000													86	161					0	0	1	0	0
KIAA1211	57482	broad.mit.edu	37	4	57176857	57176857	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr4:57176857G>C	ENST00000504228.1	+	4	416	c.311G>C	c.(310-312)aGt>aCt	p.S104T	KIAA1211_ENST00000541073.1_Missense_Mutation_p.S97T|KIAA1211_ENST00000505410.1_3'UTR|KIAA1211_ENST00000264229.6_Missense_Mutation_p.S104T			Q6ZU35	K1211_HUMAN	KIAA1211	104										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AGTTCTCTAAGTCCTCTGAAT	0.423000													6	69					0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31404690	31404690	+	Silent	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr16:31404690C>T	ENST00000389202.2	+	1	58	c.9C>T	c.(7-9)ttC>ttT	p.F3F		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	3					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGATGACCTTCGGCACTGTGC	0.587000													23	112					0	0	1	0	0
RNF139	11236	broad.mit.edu	37	8	125498726	125498726	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr8:125498726A>G	ENST00000303545.3	+	2	1208	c.836A>G	c.(835-837)aAt>aGt	p.N279S		NM_007218.3	NP_009149.2	Q8WU17	RN139_HUMAN	ring finger protein 139	279					negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CTCATTTGCAATCTTATAATT	0.398000													13	74					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137573	40137573	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr11:40137573G>C	ENST00000278198.2	-	2	2233	c.270C>G	c.(268-270)atC>atG	p.I90M	LRRC4C_ENST00000530763.1_Missense_Mutation_p.I90M|LRRC4C_ENST00000527150.1_Missense_Mutation_p.I90M|LRRC4C_ENST00000528697.1_Missense_Mutation_p.I90M			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	90					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TCACTTTGATGATCTGGATTT	0.468000													8	60					0	0	1	0	0
KCTD8	386617	broad.mit.edu	37	4	44176962	44176962	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr4:44176962T>C	ENST00000360029.3	-	2	1550	c.1267A>G	c.(1267-1269)Aca>Gca	p.T423A		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	423						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						GACAGATTTGTTTCCCGGGAC	0.408000										HNSCC(17;0.042)			62	135					0	0	1	0	0
USP3	9960	broad.mit.edu	37	15	63881009	63881009	+	Silent	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr15:63881009C>T	ENST00000268049.7	+	14	1582	c.1258C>T	c.(1258-1260)Cta>Tta	p.L420L	USP3-AS1_ENST00000558831.1_RNA|USP3-AS1_ENST00000560962.1_RNA|USP3_ENST00000558285.1_Silent_p.L425L|USP3-AS1_ENST00000559861.1_RNA|USP3_ENST00000540797.1_Silent_p.L398L|USP3_ENST00000539772.1_Silent_p.L193L|USP3_ENST00000380324.3_Silent_p.L442L|USP3-AS1_ENST00000559737.1_RNA|USP3_ENST00000559711.1_Silent_p.L353L|USP3_ENST00000558218.1_3'UTR|USP3-AS1_ENST00000559357.1_RNA|USP3-AS1_ENST00000560350.1_RNA			Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	442					DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		ATGCTACTTACTAGAGGTAAG	0.373000													23	60					0	0	1	0	0
TMEM151A	256472	broad.mit.edu	37	11	66063113	66063113	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr11:66063113G>A	ENST00000327259.4	+	2	1540	c.1396G>A	c.(1396-1398)Ggt>Agt	p.G466S		NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	466						integral to membrane				central_nervous_system(1)|kidney(4)|lung(6)	11						GGATGGGCAGGGTGCTCTCTG	0.652000													9	12					0	0	1	0	0
CLSTN3	9746	broad.mit.edu	37	12	7288484	7288484	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr12:7288484A>G	ENST00000537408.1	+	4	1251	c.713A>G	c.(712-714)aAg>aGg	p.K238R	CLSTN3_ENST00000266546.6_Missense_Mutation_p.K226R			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	226	Cadherin 2.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						TGTGGGAAGAAGCGGGCAGCA	0.537000													17	55					0	0	1	0	0
NCAM1	4684	broad.mit.edu	37	11	113085207	113085207	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr11:113085207A>G	ENST00000316851.7	+	7	1003	c.1003A>G	c.(1003-1005)Acc>Gcc	p.T335A	NCAM1_ENST00000533760.1_Missense_Mutation_p.T227A|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.T344A	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	345	Ig-like C2-type 4.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GAGGACTTCTACCCGGAACAT	0.517000													6	7					0	0	1	0	0
NOLC1	9221	broad.mit.edu	37	10	103921897	103921897	+	Silent	SNP	A	A	G			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr10:103921897A>G	ENST00000405356.1	+	13	2236	c.2001A>G	c.(1999-2001)cgA>cgG	p.R667R	NOLC1_ENST00000477977.1_Intron|NOLC1_ENST00000488254.2_Silent_p.R658R|NOLC1_ENST00000603742.1_Silent_p.R376R|NOLC1_ENST00000605788.1_Silent_p.R657R			Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	657					mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		GGGGAGAGCGAGCCAATCAGG	0.532000													42	160					0	0	1	0	0
RP11-1407O15.2	0	broad.mit.edu	37	17	36352487	36352487	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr17:36352487C>G	ENST00000312412.4	-	11	1299	c.1300G>C	c.(1300-1302)Gat>Cat	p.D434H	RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.D279H|TBC1D3_ENST00000537432.1_5'UTR																kidney(1)|lung(3)	4						GATATAGCATCAAATATCTCA	0.393000													6	67					0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	76975981	76975981	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr2:76975981C>A	ENST00000409911.1	-	3	1839	c.1616G>T	c.(1615-1617)tGc>tTc	p.C539F	LRRTM4_ENST00000409884.1_Missense_Mutation_p.C538F|LRRTM4_ENST00000409093.1_Missense_Mutation_p.C538F	NM_001134745.1	NP_001128217.1	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	538						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GTGGGCCTGGCAGTACCCGAT	0.537000													10	36					6.40141e-05	6.68592e-05	1	1	0
INO80	54617	broad.mit.edu	37	15	41313173	41313173	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr15:41313173G>A	ENST00000361937.3	-	26	3623	c.3199C>T	c.(3199-3201)Cag>Tag	p.Q1067*	INO80_ENST00000401393.3_Nonsense_Mutation_p.Q1067*|RP11-540O11.4_ENST00000558967.1_RNA			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1067	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GGGAAGAACTGTGATCGTCTA	0.522000													11	36					0	0	1	0	0
PXDC1	221749	broad.mit.edu	37	6	3737363	3737363	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr6:3737363T>C	ENST00000380283.4	-	3	910	c.416A>G	c.(415-417)gAt>gGt	p.D139G	PXDC1_ENST00000477592.2_5'UTR	NM_183373.3	NP_899229.2	Q5TGL8	CF145_HUMAN	PX domain containing 1	139					cell communication		phosphatidylinositol binding										ATGCACATTATCATTTTTTAA	0.433000													60	145					0	0	1	0	0
ZCCHC6	79670	broad.mit.edu	37	9	88967696	88967696	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr9:88967696T>C	ENST00000375961.2	-	2	633	c.419A>G	c.(418-420)tAt>tGt	p.Y140C	ZCCHC6_ENST00000375963.3_Missense_Mutation_p.Y140C|ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.Y140C			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	140					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						TTGCCACCTATAACCATCTTC	0.413000													56	86					0	0	1	0	0
ZNF451	26036	broad.mit.edu	37	6	56989595	56989595	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr6:56989595C>T	ENST00000370706.4	+	4	494	c.250C>T	c.(250-252)Cgt>Tgt	p.R84C	RP11-203B9.4_ENST00000586053.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.R84C|ZNF451_ENST00000357489.3_Missense_Mutation_p.R84C|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|ZNF451_ENST00000370711.5_3'UTR|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	84					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AACTCTGGCTCGTCTAGCCCG	0.308000													10	23					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17169924	17169924	+	Splice_Site	SNP	C	C	G			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr10:17169924C>G	ENST00000377833.4	-	3	318		c.e3-1		CUBN_ENST00000377823.1_Splice_Site	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)						cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTTTCTGGATCTAATTTTAGA	0.274000													4	51					0	0	1	0	0
XPNPEP1	7511	broad.mit.edu	37	10	111667465	111667465	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr10:111667465G>A	ENST00000502935.1	-	3	349	c.230C>T	c.(229-231)tCg>tTg	p.S77L	XPNPEP1_ENST00000322238.8_Missense_Mutation_p.S77L|XPNPEP1_ENST00000369683.1_5'UTR|XPNPEP1_ENST00000369680.4_Missense_Mutation_p.S34L|XPNPEP1_ENST00000430337.1_5'UTR			Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1, soluble	34					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		AGCATCTCCCGATGGGATGAT	0.498000													28	100					0	0	1	0	0
ZNF750	79755	broad.mit.edu	37	17	80790264	80790264	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr17:80790264A>G	ENST00000269394.3	-	2	900	c.67T>C	c.(67-69)Ttc>Ctc	p.F23L	ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	23						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TTATACTTGAAGGGCTTTCCT	0.418000													15	40					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196436881	196436881	+	Silent	SNP	T	T	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr1:196436881T>A	ENST00000367433.5	-	7	596	c.495A>T	c.(493-495)ccA>ccT	p.P165P	KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000294725.8_Silent_p.P165P|KCNT2_ENST00000367431.4_Silent_p.P165P			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	165						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TCAGAAAGACTGGGACAAATA	0.313000													12	50					0	0	1	0	0
TMEM179	388021	broad.mit.edu	37	14	105071043	105071043	+	Silent	SNP	G	G	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr14:105071043G>A	ENST00000341595.3	-	1	941	c.36C>T	c.(34-36)gcC>gcT	p.A12A	TMEM179_ENST00000556573.1_Silent_p.A12A	NM_207379.1	NP_997262.1	Q6ZVK1	T179A_HUMAN	transmembrane protein 179	12						integral to membrane				endometrium(1)|lung(2)|skin(1)	4			all cancers(16;0.00276)|OV - Ovarian serous cystadenocarcinoma(23;0.0262)|Epithelial(46;0.058)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.129)		AGAAGTAGCAGGCGCACTGAG	0.701000													8	13					0	0	1	0	0
TRAV12-2	28673	broad.mit.edu	37	14	22356168	22356168	+	RNA	SNP	G	G	C			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr14:22356168G>C	ENST00000390437.2	+	0	132																											TTTTACTAGTGATCCTGTGGC	0.368000													6	19					0	0	1	0	0
TMEM213	155006	broad.mit.edu	37	7	138482852	138482852	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr7:138482852G>A	ENST00000422794.2	+	1	158	c.156G>A	c.(154-156)atG>atA	p.M52I	ATP6V0A4_ENST00000310018.2_5'UTR|TMEM213_ENST00000397602.3_Start_Codon_SNP_p.M1I|TMEM213_ENST00000458494.1_Start_Codon_SNP_p.M1I|TMEM213_ENST00000442682.2_Start_Codon_SNP_p.M1I|TMEM213_ENST00000413208.1_Start_Codon_SNP_p.M1I			A2RRL7	TM213_HUMAN	transmembrane protein 213	1						integral to membrane		p.Q2fs*7(2)		breast(1)|endometrium(3)|kidney(1)|lung(1)	6						CCTCCAGCATGCAGCGCCTCC	0.657000													3	14					0	0	1	0	0
AK5	26289	broad.mit.edu	37	1	77987628	77987628	+	Splice_Site	SNP	G	G	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr1:77987628G>T	ENST00000344720.5	+	12	2376	c.1350_splice	c.e12+1	p.R450_splice	AK5_ENST00000354567.2_Splice_Site_p.R476_splice	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	476					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						TCGGACGCAGGGTGAGTGGTT	0.517000													10	19					3.86212e-05	4.0563e-05	1	1	0
SMG1	23049	broad.mit.edu	37	16	18882711	18882711	+	Silent	SNP	T	T	C			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr16:18882711T>C	ENST00000446231.2	-	16	2689	c.2277A>G	c.(2275-2277)aaA>aaG	p.K759K	SMG1_ENST00000389467.3_Silent_p.K759K			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	759	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CTTTGCAAAATTTATGGAAAG	0.353000													4	12					0	0	1	0	0
SEMA6C	10500	broad.mit.edu	37	1	151105571	151105571	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr1:151105571C>T	ENST00000341697.3	-	19	3873	c.2182G>A	c.(2182-2184)Gcc>Acc	p.A728T				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	728						integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|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)			CCCTCCTTGGCGTTGTTCCTG	0.786000													6	19					0	0	1	0	0
ALG5	29880	broad.mit.edu	37	13	37569650	37569650	+	Silent	SNP	T	T	C			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr13:37569650T>C	ENST00000239891.3	-	2	216	c.150A>G	c.(148-150)aaA>aaG	p.K50K	ALG5_ENST00000496689.1_5'UTR|ALG5_ENST00000413537.2_Silent_p.K50K|ALG5_ENST00000443765.1_Silent_p.K50K	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN	ALG5, dolichyl-phosphate beta-glucosyltransferase	50					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		CTTTCTGGCCTTTGGCATTTA	0.403000													23	35					0	0	1	0	0
SLAMF6	114836	broad.mit.edu	37	1	160460471	160460471	+	Silent	SNP	A	A	G			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr1:160460471A>G	ENST00000368059.3	-	4	720	c.651T>C	c.(649-651)gtT>gtC	p.V217V	SLAMF6_ENST00000368055.1_Silent_p.V106V|SLAMF6_ENST00000368057.3_Silent_p.V217V	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	SLAM family member 6	217						integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			ATTGAATTTTAACATCTGAAA	0.393000													3	30					0	0	1	0	0
FAM160B1	57700	broad.mit.edu	37	10	116606427	116606427	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr10:116606427A>G	ENST00000369248.4	+	11	1843	c.1508A>G	c.(1507-1509)tAt>tGt	p.Y503C	FAM160B1_ENST00000369250.3_Missense_Mutation_p.Y503C	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	503										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						TATACAGAATATAAACCTTTG	0.353000													13	41					0	0	1	0	0
LRRCC1	85444	broad.mit.edu	37	8	86041489	86041489	+	Nonsense_Mutation	SNP	A	A	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr8:86041489A>T	ENST00000414626.2	+	9	2330	c.1441A>T	c.(1441-1443)Aaa>Taa	p.K481*	LRRCC1_ENST00000360375.3_Nonsense_Mutation_p.K501*			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	501					cell division|mitosis	centriole|nucleus		p.K482fs*2(1)|p.K502fs*2(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						AAATGAAATTAAAAAACTGAC	0.318000													16	105					0	0	1	0	0
ISL1	3670	broad.mit.edu	37	5	50685525	50685525	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr5:50685525A>T	ENST00000230658.7	+	4	1109	c.524A>T	c.(523-525)cAc>cTc	p.H175L	ISL1_ENST00000511384.1_Missense_Mutation_p.H175L|ISL1_ENST00000505475.2_3'UTR	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	175					generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				CCCCACGTCCACAAGCAGCCG	0.716000													16	23					0	0	1	0	0
LRIT2	340745	broad.mit.edu	37	10	85984841	85984841	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr10:85984841C>T	ENST00000372113.4	-	2	145	c.140G>A	c.(139-141)gGa>gAa	p.G47E	LRIT2_ENST00000538192.1_Missense_Mutation_p.G47E	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	47	LRRNT.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						AGGGATCTTTCCCAAGGAGAC	0.463000													12	81					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159654521	159654521	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr6:159654521C>A	ENST00000297267.9	+	11	3177	c.2977C>A	c.(2977-2979)Ccc>Acc	p.P993T	FNDC1_ENST00000340366.6_Missense_Mutation_p.P930T	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	993						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TCCCAGTGTTCCCAGAAGGAT	0.697000													6	24					0.00307968	0.00318121	1	1	0
LMTK3	114783	broad.mit.edu	37	19	49001562	49001562	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr19:49001562G>A	ENST00000600059.1	-	11	2991	c.2764C>T	c.(2764-2766)Cca>Tca	p.P922S	LMTK3_ENST00000270238.3_Missense_Mutation_p.P951S					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CCGTTCACTGGGAGGCTCAGG	0.667000													18	33					0	0	1	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159819384	159819384	+	RNA	SNP	G	G	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr3:159819384G>A	ENST00000497452.1	-	0	517																											TGGCTGACTTGCAGAAAACTC	0.488000													24	109					0	0	1	0	0
TMC6	11322	broad.mit.edu	37	17	76120647	76120647	+	Silent	SNP	G	G	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr17:76120647G>A	ENST00000590602.1	-	8	1008	c.849C>T	c.(847-849)ggC>ggT	p.G283G	TMC6_ENST00000392467.3_Silent_p.G283G|TMC6_ENST00000322933.4_5'UTR|TMC6_ENST00000306591.7_Silent_p.G283G|TMC6_ENST00000589553.1_Silent_p.G56G|TMC6_ENST00000322914.3_Silent_p.G283G			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	283						endoplasmic reticulum membrane|integral to membrane				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CGGGGGCAGGGCCCGGCAGGG	0.667000													11	36					0	0	1	0	0
RARA	5914	broad.mit.edu	37	17	38510721	38510721	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr17:38510721G>C	ENST00000254066.5	+	7	1430	c.975G>C	c.(973-975)gaG>gaC	p.E325D	RARA_ENST00000394086.3_Missense_Mutation_p.E341D|RARA_ENST00000394089.2_Missense_Mutation_p.E325D|RARA_ENST00000425707.3_Missense_Mutation_p.E228D|RARA_ENST00000394081.3_Missense_Mutation_p.E320D|RARA_ENST00000420042.1_3'UTR	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	325	Ligand-binding.				apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	ATGATGCGGAGACGGGGCTGC	0.677000			T	"""PML, ZNF145, TIF1, NUMA1, NPM1"""	APL								20	48					0	0	1	0	0
SRRM1	10250	broad.mit.edu	37	1	24993374	24993374	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr1:24993374C>A	ENST00000323848.9	+	13	2012	c.1697C>A	c.(1696-1698)cCt>cAt	p.P566H	SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.P578H|SRRM1_ENST00000374389.4_Missense_Mutation_p.P575H|SRRM1_ENST00000537199.1_3'UTR	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	566	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding	p.P566H(2)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CCCGCCCCTCCTCCTCGACGG	0.542000													4	47					1	1	1	1	0
LRRK1	79705	broad.mit.edu	37	15	101569183	101569183	+	Silent	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr15:101569183C>T	ENST00000284395.5	+	21	3100	c.2700C>T	c.(2698-2700)acC>acT	p.T900T	LRRK1_ENST00000388948.3_Silent_p.T903T			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	903					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TCATAGAAACCGGCACCCTGC	0.557000													24	105					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109380846	109380846	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr2:109380846G>A	ENST00000283195.6	+	20	3977	c.3851G>A	c.(3850-3852)aGg>aAg	p.R1284K		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1284	RanBD1 1.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CTTGCTATTAGGTTCAAAACT	0.408000													14	95					0	0	1	0	0
ADAM20	8748	broad.mit.edu	37	14	70989921	70989921	+	Silent	SNP	A	A	G			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr14:70989921A>G	ENST00000256389.3	-	2	1948	c.1704T>C	c.(1702-1704)atT>atC	p.I568I	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	518	Cys-rich.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		CTTGGCCAAAAATCTCTTTAC	0.433000													27	99					0	0	1	0	0
TLR10	81793	broad.mit.edu	37	4	38775082	38775082	+	Silent	SNP	G	G	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr4:38775082G>A	ENST00000308973.4	-	4	2735	c.2130C>T	c.(2128-2130)ttC>ttT	p.F710F	TLR10_ENST00000361424.2_Silent_p.F710F|TLR10_ENST00000506111.1_Silent_p.F710F|TLR10_ENST00000508334.1_Silent_p.F710F	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	710	TIR.				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						GGGCAAAGTAGAATTCATAAT	0.363000													12	116					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274291	39274291	+	Missense_Mutation	SNP	T	T	C	rs149439944	by1000genomes	TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr17:39274291T>C	ENST00000391413.2	-	1	315	c.277A>G	c.(277-279)Atg>Gtg	p.M93V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	93	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.M93V(4)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGCAGCACATAGACTGGCAG	0.662000													3	29					0	0	1	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26431129	26431129	+	RNA	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr6:26431129C>T	ENST00000466808.2	+	0	1447																											AGGAGAGCTTCGCCTCAGGGA	0.517000													44	94					0	0	1	0	0
RBCK1	10616	broad.mit.edu	37	20	398389	398389	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr20:398389A>G	ENST00000356286.5	+	4	980	c.275A>G	c.(274-276)tAt>tGt	p.Y92C	RBCK1_ENST00000382181.2_5'UTR|RBCK1_ENST00000353660.3_Missense_Mutation_p.Y50C	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	92	Interaction with IRF3.|Interaction with RNF31.|Interaction with TAB2.|Ubiquitin-like.				interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				TTTCTGGACTATGGCTTCCCA	0.612000													9	37					0	0	1	0	0
CCDC82	79780	broad.mit.edu	37	11	96092212	96092212	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr11:96092212T>A	ENST00000278520.5	-	8	1939	c.1511A>T	c.(1510-1512)aAa>aTa	p.K504I	CCDC82_ENST00000423339.2_Missense_Mutation_p.K504I|CCDC82_ENST00000542662.1_Missense_Mutation_p.K504I			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	504							protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		CACTGTTTCTTTAACTTGTTC	0.343000													5	53					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62285071	62285071	+	Silent	SNP	G	G	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr11:62285071G>A	ENST00000378024.4	-	5	17092	c.16818C>T	c.(16816-16818)ctC>ctT	p.L5606L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5606	Gly-rich.				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)				TGTCCAAGTTGAGAGCAGAGG	0.557000													63	126					0	0	1	0	0
ADAM22	53616	broad.mit.edu	37	7	87792473	87792473	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr7:87792473G>T	ENST00000398204.4	+	23	2377	c.2054G>T	c.(2053-2055)gGc>gTc	p.G685V	ADAM22_ENST00000265727.7_Missense_Mutation_p.G685V|ADAM22_ENST00000315984.7_Missense_Mutation_p.G685V|ADAM22_ENST00000398209.3_Missense_Mutation_p.G685V|ADAM22_ENST00000398201.4_Missense_Mutation_p.G685V	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	685	EGF-like.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			AGTAAAGAAGGCACTATTTGC	0.393000													6	35					0.0293803	0.0296963	1	1	0
BRINP1	1620	broad.mit.edu	37	9	121930221	121930221	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr9:121930221C>T	ENST00000265922.3	-	8	1888	c.1427G>A	c.(1426-1428)aGc>aAc	p.S476N	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		476					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						AGTCTCAAAGCTGATGAACTG	0.567000													11	72					0	0	1	0	0
TMEM61	199964	broad.mit.edu	37	1	55457641	55457641	+	Silent	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr1:55457641C>T	ENST00000371268.3	+	3	772	c.498C>T	c.(496-498)ctC>ctT	p.L166L	RP11-12C17.2_ENST00000436960.1_RNA	NM_182532.1	NP_872338.1	Q8N0U2	TMM61_HUMAN	transmembrane protein 61	166						integral to membrane				endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	4						ATGCCCTGCTCAGCACCCAGC	0.642000													12	112					0	0	1	0	0
KIAA0922	23240	broad.mit.edu	37	4	154478124	154478124	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr4:154478124C>G	ENST00000409663.3	+	6	491	c.439C>G	c.(439-441)Cca>Gca	p.P147A	KIAA0922_ENST00000409959.3_Missense_Mutation_p.P147A|KIAA0922_ENST00000440693.1_Missense_Mutation_p.P147A	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	147						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				TCAGGTAATTCCAGCAATGGG	0.378000													23	36					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80749709	80749709	+	Silent	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr12:80749709C>T	ENST00000458043.2	+	46	5766	c.5760C>T	c.(5758-5760)tgC>tgT	p.C1920C	OTOGL_ENST00000547103.1_Silent_p.C1908C	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						AATGGACCTGCTGTTCAAAGG	0.388000													36	101					0	0	1	0	0
ETFDH	2110	broad.mit.edu	37	4	159627834	159627834	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr4:159627834C>G	ENST00000511912.1	+	12	1854	c.1522C>G	c.(1522-1524)Cca>Gca	p.P508A	ETFDH_ENST00000307738.5_Missense_Mutation_p.P461A	NM_004453.2	NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	508					fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		TATTGAGTATCCAAAACCCGA	0.428000													18	353					0	0	1	0	0
KAZN	23254	broad.mit.edu	37	1	15420822	15420822	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr1:15420822G>A	ENST00000376030.2	+	9	1663	c.1369G>A	c.(1369-1371)Gtg>Atg	p.V457M		NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	457	SAM 1.				keratinization	cornified envelope|cytoplasm|desmosome|nucleus				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						CTGGCTGGAGGTGGTGATGGC	0.652000													4	35					0	0	1	0	0
ERF	2077	broad.mit.edu	37	19	42754049	42754049	+	Silent	SNP	C	C	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr19:42754049C>A	ENST00000222329.4	-	3	460	c.303G>T	c.(301-303)cgG>cgT	p.R101R	ERF_ENST00000440177.2_Silent_p.R26R|AC006486.9_ENST00000594664.1_Intron	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	101					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				TGTAGGTGAACCGTTTCCCCT	0.488000													48	138					4.10826e-27	4.62487e-27	1	1	0
NXF4	55999	broad.mit.edu	37	X	101817596	101817596	+	RNA	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chrX:101817596C>T	ENST00000360035.2	+	0	522					NR_002216.1															endometrium(2)|lung(8)	10						TGCAGTGTCCCCTTCACTCCA	0.488000													5	14					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9046542	9046542	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr19:9046542T>C	ENST00000397910.4	-	5	35292	c.35089A>G	c.(35089-35091)Acc>Gcc	p.T11697A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11699	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						GGTGTGCTGGTCTGTGGAGGA	0.522000													15	80					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126086333	126086333	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr7:126086333T>A	ENST00000339582.2	-	10	3332	c.2524A>T	c.(2524-2526)Att>Ttt	p.I842F	GRM8_ENST00000444921.2_Missense_Mutation_p.I842F|GRM8_ENST00000358373.3_Missense_Mutation_p.I842F			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	842					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GGATGAAAAATTATAATATAA	0.418000										HNSCC(24;0.065)			9	49					0	0	1	0	0
NADSYN1	55191	broad.mit.edu	37	11	71169582	71169582	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr11:71169582C>G	ENST00000319023.2	+	3	443	c.255C>G	c.(253-255)gaC>gaG	p.D85E		NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	85	CN hydrolase.				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TCATCTGCGACGTGGGGATGT	0.567000													11	122					0	0	1	0	0
IZUMO2	126123	broad.mit.edu	37	19	50666045	50666045	+	Silent	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr19:50666045C>T	ENST00000293405.3	-	2	258	c.258G>A	c.(256-258)gcG>gcA	p.A86A		NM_152358.2	NP_689571.2	Q6UXV1	IZUM2_HUMAN	IZUMO family member 2	86						integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						TGACAAAGGACGCCACAAGGT	0.582000													14	84					0	0	1	0	0
ARID3B	10620	broad.mit.edu	37	15	74883702	74883702	+	Silent	SNP	C	C	T			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr15:74883702C>T	ENST00000346246.5	+	6	1323	c.1092C>T	c.(1090-1092)atC>atT	p.I364I		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	364	Interaction with RB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						GCTTTCCCATCCTTGGGCTTG	0.622000													22	98					0	0	1	0	0
FAM41C	284593	broad.mit.edu	37	1	812279	812279	+	RNA	DEL	G	G	-			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr1:812279delG	ENST00000446136.1	-	0	4					NR_027055.1																						GAAGCCTACAGGCAGCAGAAC	0.542													2	4	---	---	---	---					
IFT172	26160	broad.mit.edu	37	2	27669129	27669130	+	Frame_Shift_Ins	INS	-	-	GGCA			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr2:27669129_27669130insGGCA	ENST00000260570.3	-	43	4855_4856	c.4752_4753insTGCC	c.(4750-4755)gcaggcfs	p.G1585fs	KRTCAP3_ENST00000543753.1_Intron	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	1585					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CAGCTCACCTTGGCAGCAATGC	0.505													7	99	---	---	---	---					
MUC20	200958	broad.mit.edu	37	3	195447912	195447914	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr3:195447912_195447914delTTC	ENST00000320736.6	+	1	160_162	c.34_36delTTC	c.(34-36)del	p.F14del	MUC20_ENST00000447234.2_In_Frame_Del_p.F14del|MUC20_ENST00000485430.1_3'UTR|MUC20_ENST00000436408.1_In_Frame_Del_p.F14del	NM_001098516.1|NM_152673.2	NP_001091986.1|NP_689886.2	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	14					protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		TCTGCCCCTTTTCTTCTTCTGCT	0.611													8	22	---	---	---	---					
WDR46	9277	broad.mit.edu	37	6	33255224	33255225	+	Frame_Shift_Ins	INS	-	-	A			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr6:33255224_33255225insA	ENST00000374617.4	-	8	1142_1143	c.786_787insT	c.(784-789)taacaafs	p.*Q262fs		NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	262										NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						CCCTGATTGTCATAGATGTGGA	0.545													23	65	---	---	---	---					
ZNF629	23361	broad.mit.edu	37	16	30793334	30793334	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr16:30793334delT	ENST00000262525.4	-	3	2522	c.2315delA	c.(2314-2316)gtfs	p.D772fs		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	772					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			GGCCCTGCAATCTGAGCAGCG	0.652													56	116	---	---	---	---					
MAP3K14-AS1	100133991	broad.mit.edu	37	17	43339503	43339519	+	RNA	DEL	CTGTGATGTCGCCGCCT	CTGTGATGTCGCCGCCT	-			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr17:43339503_43339519delCTGTGATGTCGCCGCCT	ENST00000585780.1	+	0	360_376				MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000586450.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA																							GCGCCGGTGCCTGTGATGTCGCCGCCTCTGTGACGTC	0.691													3	5	---	---	---	---					
ANKRD20A18P	391269	broad.mit.edu	37	21	15436915	15436915	+	RNA	DEL	G	G	-			TCGA-QK-A8Z9-01B-11D-A391-08	TCGA-QK-A8Z9-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ab8fde7-ae2c-4d20-bb62-e09607343a61	710200ed-7170-473e-9d8e-be2bb2b3320c	g.chr21:15436915delG	ENST00000428809.1	+	0	177																											CCCCTGGGACGGGGGCCTTGG	0.687													4	6	---	---	---	---					
