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
PKD1L2	114780	broad.mit.edu	37	16	81164149	81164149	+	RNA	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr16:81164149C>T	ENST00000533478.1	-	0	4013				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000534142.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CTGAAAAGCCCCTGGTGAAGC	0.592000													7	8					0	0	0.001984	0	0
KCNA6	3742	broad.mit.edu	37	12	4919899	4919899	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr12:4919899C>T	ENST00000433855.1	+	1	1558	c.692C>T	c.(691-693)tCc>tTc	p.S231F	KCNA6_ENST00000280684.3_Missense_Mutation_p.S231F	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	231						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						GAAGACGATTCCTACACATTT	0.547000										HNSCC(72;0.22)			34	88					0	0	0.002836	0	0
SPAG17	200162	broad.mit.edu	37	1	118550790	118550790	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:118550790C>T	ENST00000336338.5	-	31	4529	c.4464G>A	c.(4462-4464)gtG>gtA	p.V1488V		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1488						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GCATACACTTCACCTGCCTGG	0.493000													11	71					0	0	0.001855	0	0
PRSS50	29122	broad.mit.edu	37	3	46753880	46753880	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr3:46753880C>T	ENST00000460241.1	-	11	2684	c.1014G>A	c.(1012-1014)gaG>gaA	p.E338E	PRSS50_ENST00000315170.7_Silent_p.E338E			Q9UI38	TSP50_HUMAN	protease, serine, 50	338	Peptidase S1.				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						TGGGTGGGGCCTCGCTCTTCT	0.642000													16	17					0	0	0.004990	0	0
KIF14	9928	broad.mit.edu	37	1	200559251	200559251	+	Splice_Site	SNP	A	A	G			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:200559251A>G	ENST00000367350.4	-	17	3400		c.e17+1			NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14						microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TCTGCCTTTTACCAGTTCTGC	0.383000													27	121					0	0	0.004656	0	0
KL	9365	broad.mit.edu	37	13	33635527	33635527	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr13:33635527C>T	ENST00000380099.3	+	4	2319	c.2311C>T	c.(2311-2313)Cca>Tca	p.P771S	KL_ENST00000426690.2_3'UTR|KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	771	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TGGAGATTATCCATGGGTGAT	0.443000													22	52					0	0	0.003330	0	0
CCDC158	339965	broad.mit.edu	37	4	77250090	77250090	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr4:77250090C>T	ENST00000388914.3	-	21	3113	c.2961G>A	c.(2959-2961)agG>agA	p.R987R		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	987	Ser-rich.									breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						AGGGATCTTCCCTGTCTCCTG	0.443000													15	26					0	0	0.002450	0	0
AREG	374	broad.mit.edu	37	4	75312296	75312296	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr4:75312296A>G	ENST00000395748.3	+	2	319	c.107A>G	c.(106-108)aAg>aGg	p.K36R	AREG_ENST00000502307.1_Missense_Mutation_p.K36R|AREG_ENST00000264487.2_Missense_Mutation_p.K36R	NM_001657.2	NP_001648.1	P15514	AREG_HUMAN	amphiregulin	36					cell proliferation|cell-cell signaling|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|positive regulation of DNA replication	cell surface|extracellular space|integral to membrane	cytokine activity|growth factor activity			lung(4)	4			Lung(101;0.196)			TACTCTGGGAAGCGTGAACCA	0.478000													55	99					0	0	0.003610	0	0
JAG1	182	broad.mit.edu	37	20	10622123	10622123	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr20:10622123C>T	ENST00000254958.5	-	23	3416	c.2901G>A	c.(2899-2901)aaG>aaA	p.K967K	JAG1_ENST00000423891.2_Silent_p.K808K	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	967					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						ACATCATCTCCTTGTTAAAGG	0.443000									Alagille Syndrome				88	70					0	0	0.003610	0	0
PPP2R2B	5521	broad.mit.edu	37	5	146017869	146017869	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr5:146017869C>T	ENST00000394413.3	-	6	1305	c.735G>A	c.(733-735)ggG>ggA	p.G245G	PPP2R2B_ENST00000504198.1_Silent_p.G251G|PPP2R2B_ENST00000453001.1_Silent_p.G245G|PPP2R2B_ENST00000508545.2_Silent_p.G234G|PPP2R2B_ENST00000394411.4_Silent_p.G245G|PPP2R2B_ENST00000336640.6_Silent_p.G248G|PPP2R2B_ENST00000394410.2_Silent_p.G234G|PPP2R2B_ENST00000356826.3_Silent_p.G245G|PPP2R2B_ENST00000394409.3_Silent_p.G303G|PPP2R2B_ENST00000394414.1_Silent_p.G311G|PPP2R2B_ENST00000530902.1_5'UTR			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	245					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCCGGATTGTCCCTTTGCTGC	0.582000													19	37					0	0	0.001523	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144075893	144075893	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr7:144075893C>T	ENST00000056217.5	+	14	4744	c.4570C>T	c.(4570-4572)Cga>Tga	p.R1524*	ARHGEF5_ENST00000471847.2_Nonsense_Mutation_p.R446*	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	1524	SH3.				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity	p.R1524*(1)		breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					CTACAAGCCCCGAGAGAATGA	0.572000													37	123					0	0	0.008740	0	0
CCDC108	255101	broad.mit.edu	37	2	219894278	219894278	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:219894278G>A	ENST00000341552.5	-	11	1580	c.1497C>T	c.(1495-1497)ttC>ttT	p.F499F	CCDC108_ENST00000453220.1_Silent_p.F499F|CCDC108_ENST00000441968.1_Silent_p.F499F|CCDC108_ENST00000410037.1_Silent_p.F434F|CCDC108_ENST00000409865.3_Silent_p.F488F	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	499						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGCAAACTGGAAGTGGGCCG	0.597000											OREG0015211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	58					0	0	0.006122	0	0
PUS7	54517	broad.mit.edu	37	7	105135651	105135651	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr7:105135651G>A	ENST00000356362.2	-	6	994	c.780C>T	c.(778-780)ttC>ttT	p.F260F	PUS7_ENST00000469408.1_Silent_p.F260F	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)	260					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						TATATAGTACGAAGTGGCAGT	0.318000													38	131					0	0	0.006999	0	0
MIP	4284	broad.mit.edu	37	12	56845221	56845221	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr12:56845221C>T	ENST00000257979.4	-	4	663	c.635G>A	c.(634-636)gGg>gAg	p.G212E		NM_012064.3	NP_036196.1	P30301	MIP_HUMAN	major intrinsic protein of lens fiber	212					response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens	p.G212E(1)		kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	16						GCCCAGACCCCCTCCAATGAT	0.537000													83	70					0	0	0.003610	0	0
SGPP2	130367	broad.mit.edu	37	2	223339413	223339413	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:223339413T>C	ENST00000321276.7	+	2	432	c.346T>C	c.(346-348)Tat>Cat	p.Y116H		NM_152386.2	NP_689599.2	Q8IWX5	SGPP2_HUMAN	sphingosine-1-phosphate phosphatase 2	116					sphingosine metabolic process	endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	18		Renal(207;0.0376)		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)		TATTGACCCTTATTTATCCAG	0.338000													21	54					0	0	0.001882	0	0
KCNB2	9312	broad.mit.edu	37	8	73848346	73848346	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr8:73848346C>T	ENST00000523207.1	+	3	1344	c.756C>T	c.(754-756)ttC>ttT	p.F252F		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	252					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TTTTGCGATTCTTATCCTCAC	0.443000													27	63					0	0	0.004656	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17698408	17698408	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:17698408T>A	ENST00000399080.2	-	1	1298	c.1275A>T	c.(1273-1275)aaA>aaT	p.K425N		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	425										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTTCTTCAGTTTTTTTCATAT	0.294000													18	39					0	0	0.004990	0	0
NEK2	4751	broad.mit.edu	37	1	211840481	211840481	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:211840481C>T	ENST00000366999.4	-	7	1216	c.1078G>A	c.(1078-1080)Gaa>Aaa	p.E360K	NEK2_ENST00000540251.1_Missense_Mutation_p.E317K|NEK2_ENST00000366998.3_Missense_Mutation_p.E360K|NEK2_ENST00000462283.1_5'UTR	NM_002497.3	NP_002488.1	P51955	NEK2_HUMAN	NIMA-related kinase 2	360	Interaction with PCNT.|Necessary for interaction with MAD1L1.|Required for microtubule binding and for localization to the centrosomes.				cell division|centrosome separation|G2/M transition of mitotic cell cycle|meiosis|protein autophosphorylation|regulation of mitosis	centrosome|condensed chromosome kinetochore|cytosol|nucleolus	ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity			breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		AACTTCCGTTCCTTTAGCAAG	0.433000													77	48					0	0	0.003610	0	0
RASD1	51655	broad.mit.edu	37	17	17398703	17398703	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:17398703C>T	ENST00000225688.3	-	2	793	c.582G>A	c.(580-582)atG>atA	p.M194I	RASD1_ENST00000579152.1_3'UTR	NM_001199989.1|NM_016084.4	NP_001186918.1|NP_057168.1	Q9Y272	RASD1_HUMAN	RAS, dexamethasone-induced 1	194					G-protein coupled receptor protein signaling pathway|small GTPase mediated signal transduction	nucleus|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						GCAGCTTGGCCATGGCGAAGA	0.637000													6	12					0	0	0.003080	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45566986	45566986	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr18:45566986C>T	ENST00000588982.1	-	3	994	c.493G>A	c.(493-495)Gat>Aat	p.D165N	ZBTB7C_ENST00000590800.1_Missense_Mutation_p.D165N|ZBTB7C_ENST00000586438.1_Missense_Mutation_p.D165N|ZBTB7C_ENST00000535628.2_Missense_Mutation_p.D165N|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.D165N			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	165	Asp-rich.					intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GTGTCATCATCGTCAtcctcc	0.552000													21	62					0	0	0.002299	0	0
SLC7A4	6545	broad.mit.edu	37	22	21384575	21384575	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr22:21384575C>T	ENST00000382932.2	-	3	1115	c.1048G>A	c.(1048-1050)Gat>Aat	p.D350N	SLC7A4_ENST00000403586.1_Missense_Mutation_p.D350N	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	350					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AAGAGCCCATCGGCGGCCATG	0.642000													40	10					0	0	0.003610	0	0
MSRA	4482	broad.mit.edu	37	8	10285790	10285790	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr8:10285790G>A	ENST00000528246.1	+	7	1101	c.478G>A	c.(478-480)Ggc>Agc	p.G160S	MSRA_ENST00000441698.2_Missense_Mutation_p.G186S|MSRA_ENST00000317173.4_Missense_Mutation_p.G226S|MSRA_ENST00000382490.5_Missense_Mutation_p.G183S	NM_001199729.1	NP_001186658.1	Q9UJ68	MSRA_HUMAN	methionine sulfoxide reductase A	226					methionine metabolic process|protein modification process|response to oxidative stress	mitochondrion|nucleus	peptide-methionine-(S)-S-oxide reductase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4)	8		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	TGGGGGCACCGGCGTGTCCTG	0.512000													34	30					0	0	0.003755	0	0
S1PR3	1903	broad.mit.edu	37	9	91616371	91616371	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr9:91616371C>T	ENST00000375846.3	+	1	4951	c.256C>T	c.(256-258)Ctg>Ttg	p.L86L	S1PR3_ENST00000358157.2_Silent_p.L86L			Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	86					anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						TCTCTGCGACCTGCTGGCCGG	0.493000											OREG0019291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	74	22					0	0	0.003610	0	0
HEPACAM	220296	broad.mit.edu	37	11	124794749	124794749	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr11:124794749A>T	ENST00000298251.4	-	2	707	c.302T>A	c.(301-303)cTc>cAc	p.L101H		NM_152722.4	NP_689935.2	Q14CZ8	HECAM_HUMAN	hepatic and glial cell adhesion molecule	101	Ig-like V-type.				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		ATTTTCAAAGAGTCGGATACG	0.592000													7	86					0	0	0.001984	0	0
ANK1	286	broad.mit.edu	37	8	41552247	41552247	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr8:41552247C>G	ENST00000396942.1	-	28	3273	c.3190G>C	c.(3190-3192)Gtg>Ctg	p.V1064L	ANK1_ENST00000396945.1_Missense_Mutation_p.V1064L|ANK1_ENST00000265709.8_Missense_Mutation_p.V1105L|ANK1_ENST00000289734.7_Missense_Mutation_p.V1064L|ANK1_ENST00000379758.2_Missense_Mutation_p.V1064L|ANK1_ENST00000352337.4_Missense_Mutation_p.V1064L|ANK1_ENST00000347528.4_Missense_Mutation_p.V1064L			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1064					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GACATGATCACGAAGTACAGC	0.602000													33	19					0	0	0.003271	0	0
TSR2	90121	broad.mit.edu	37	X	54470529	54470529	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:54470529G>A	ENST00000375151.4	+	4	374	c.353G>A	c.(352-354)aGa>aAa	p.R118K		NM_058163.1	NP_477511.1	Q969E8	TSR2_HUMAN	TSR2, 20S rRNA accumulation, homolog (S. cerevisiae)	118					rRNA processing		protein binding			breast(1)|endometrium(3)|lung(2)	6						ATCACTCAGAGAAAATGCAAG	0.522000													31	101					0	0	0.001786	0	0
TRAPPC8	22878	broad.mit.edu	37	18	29454427	29454427	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr18:29454427G>A	ENST00000582513.1	-	13	2310	c.1969C>T	c.(1969-1971)Cat>Tat	p.H657Y	TRAPPC8_ENST00000283351.4_Intron|TRAPPC8_ENST00000582539.1_Intron			Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	0					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ATTCCTGAATGAAAATAAGCA	0.284000													9	33					0	0	0.004482	0	0
VPS18	57617	broad.mit.edu	37	15	41188270	41188270	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr15:41188270C>T	ENST00000220509.5	+	2	565	c.226C>T	c.(226-228)Ctg>Ttg	p.L76L	VPS18_ENST00000558474.1_Silent_p.L76L	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	76					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CAAGGATACACTGCTCCGGTA	0.512000													59	61					0	0	0.003610	0	0
CYLC1	1538	broad.mit.edu	37	X	83129238	83129238	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:83129238G>A	ENST00000329312.4	+	4	1559	c.1522G>A	c.(1522-1524)Gat>Aat	p.D508N		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	508					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TTCAAAGAAAGATATCAAGAA	0.353000													4	17					0	0	0.000602	0	0
CACNA1B	774	broad.mit.edu	37	9	140878646	140878646	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr9:140878646C>T	ENST00000371372.1	+	13	1858	c.1713C>T	c.(1711-1713)tcC>tcT	p.S571S	CACNA1B_ENST00000371355.4_Silent_p.S572S|CACNA1B_ENST00000371363.1_Silent_p.S571S|CACNA1B_ENST00000277551.2_Silent_p.S571S|CACNA1B_ENST00000371357.1_Silent_p.S572S|CACNA1B_ENST00000277549.5_5'UTR	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	571					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CGGGAAGCTCCTTTGGGATCA	0.622000													7	12					0	0	0.004482	0	0
CYP1A2	1544	broad.mit.edu	37	15	75042580	75042580	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr15:75042580G>A	ENST00000343932.4	+	2	564	c.501G>A	c.(499-501)aaG>aaA	p.K167K		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	167					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	ATGTGAGCAAGGAGGCTAAGG	0.612000													45	107					0	0	0.003610	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18435178	18435178	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr12:18435178G>A	ENST00000433979.1	+	2	279	c.163G>A	c.(163-165)Gag>Aag	p.E55K	RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.E55K|PIK3C2G_ENST00000535651.1_Missense_Mutation_p.E55K|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.E55K	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	55					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TCCACACTACGAGAGTGAAAT	0.398000													12	38					0	0	0.001368	0	0
CCDC144A	9720	broad.mit.edu	37	17	16593801	16593801	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:16593801C>T	ENST00000443444.2	+	1	227	c.87C>T	c.(85-87)gtC>gtT	p.V29V	CCDC144A_ENST00000399273.1_Silent_p.V29V|RP11-219A15.1_ENST00000448331.3_Silent_p.V29V|CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000456009.1_Silent_p.V29V|CCDC144A_ENST00000340621.5_Silent_p.V29V|CCDC144A_ENST00000360524.8_Silent_p.V29V			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	29																	CCCCTAGCGTCGGGAGCCAGG	0.657000													24	17					0	0	0.003330	0	0
CTBS	1486	broad.mit.edu	37	1	85035652	85035652	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:85035652T>A	ENST00000370630.4	-	3	535	c.487A>T	c.(487-489)Act>Tct	p.T163S	CTBS_ENST00000477677.1_Intron	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-	163						lysosome	cation binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		GAGTCTGTAGTTTCTTTGACT	0.323000													20	39					0	0	0.003954	0	0
PSMC4	5704	broad.mit.edu	37	19	40486287	40486287	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:40486287G>A	ENST00000157812.2	+	9	1211	c.1013G>A	c.(1012-1014)cGc>cAc	p.R338H	PSMC4_ENST00000455878.2_Missense_Mutation_p.R307H	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	338					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CTTCCTGACCGCCGCCAGAAG	0.522000													56	151					0	0	0.003610	0	0
ZNF99	7652	broad.mit.edu	37	19	22940616	22940616	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:22940616G>A	ENST00000397104.3	-	5	1821	c.1822C>T	c.(1822-1824)Cat>Tat	p.H608Y	ZNF99_ENST00000596209.1_Missense_Mutation_p.H699Y					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTTCCAGTATGAATTATCTTA	0.363000													11	31					0	0	0.008291	0	0
PC	5091	broad.mit.edu	37	11	66638662	66638662	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr11:66638662G>A	ENST00000393960.1	-	7	775	c.494C>T	c.(493-495)cCc>cTc	p.P165L	PC_ENST00000393955.2_Missense_Mutation_p.P165L|PC_ENST00000355677.3_Missense_Mutation_p.P165L|PC_ENST00000524491.1_Missense_Mutation_p.P125L|PC_ENST00000393958.2_Missense_Mutation_p.P165L	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	165	ATP-grasp.|Biotin carboxylation.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	AGGGACAACGGGAACACCTGT	0.632000													35	16					0	0	0.003271	0	0
GRIK3	2899	broad.mit.edu	37	1	37282688	37282688	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:37282688C>T	ENST00000373091.3	-	13	2080	c.2064G>A	c.(2062-2064)aaG>aaA	p.K688K	GRIK3_ENST00000373093.4_Silent_p.K688K	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	688					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	TGGCCCCATCCTTGACAGCCC	0.557000													14	28					0	0	0.003163	0	0
CBS	875	broad.mit.edu	37	21	44485567	44485567	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr21:44485567G>A	ENST00000398165.3	-	7	855	c.596C>T	c.(595-597)tCc>tTc	p.S199F	CBS_ENST00000398158.1_Missense_Mutation_p.S199F|CBS_ENST00000544202.1_Missense_Mutation_p.S111F|CBS_ENST00000398168.1_Missense_Mutation_p.S199F|CBS_ENST00000352178.5_Missense_Mutation_p.S199F|CBS_ENST00000359624.3_Missense_Mutation_p.S199F	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	199					cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	TGACTCCGGGGAGTCGAACCT	0.642000													187	278					0	0	0.003610	0	0
ZNF676	163223	broad.mit.edu	37	19	22363414	22363414	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:22363414C>T	ENST00000397121.2	-	3	1422	c.1105G>A	c.(1105-1107)Gga>Aga	p.G369R		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTGCCACATCCTTCACATTTG	0.393000													19	48					0	0	0.007413	0	0
IGHV4-61	28391	broad.mit.edu	37	14	107095556	107095556	+	RNA	SNP	T	T	C			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr14:107095556T>C	ENST00000390630.2	-	0	106																											ACCACAGGTGTTTCATGTTCT	0.532000													4	54					0	0	0.001168	0	0
UBR2	23304	broad.mit.edu	37	6	42625842	42625842	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr6:42625842C>T	ENST00000372901.1	+	27	3211	c.2953C>T	c.(2953-2955)Cac>Tac	p.H985Y	UBR2_ENST00000372883.3_Missense_Mutation_p.H489Y|UBR2_ENST00000372899.1_Missense_Mutation_p.H985Y			Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	985					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			CCTAGAAGTCCACAAAGACAT	0.368000													106	144					0	0	0.003610	0	0
DDHD1	80821	broad.mit.edu	37	14	53525281	53525281	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr14:53525281G>A	ENST00000357758.3	-	9	2089	c.1906C>T	c.(1906-1908)Cca>Tca	p.P636S	DDHD1_ENST00000323669.5_Missense_Mutation_p.P636S|DDHD1_ENST00000395606.1_Missense_Mutation_p.P643S	NM_030637.2	NP_085140.2	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	636	DDHD.				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					GTATTTCCTGGGCGGATGCCA	0.383000													14	39					0	0	0.001855	0	0
NET1	10276	broad.mit.edu	37	10	5498571	5498571	+	Missense_Mutation	SNP	C	C	T	rs150542987		TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr10:5498571C>T	ENST00000355029.4	+	12	1547	c.1405C>T	c.(1405-1407)Cgc>Tgc	p.R469C	NET1_ENST00000542715.1_Missense_Mutation_p.R288C|NET1_ENST00000380359.3_Missense_Mutation_p.R415C	NM_001047160.1	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	469	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity	p.R469C(1)|p.R415C(1)		breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						CTTTAGAATTCGCTTCCATGA	0.403000													55	20					0	0	0.003610	0	0
COL4A5	1287	broad.mit.edu	37	X	107850123	107850123	+	Splice_Site	SNP	G	G	A	rs104886178		TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:107850123G>A	ENST00000328300.6	+	29	2639		c.e29+1		COL4A5_ENST00000361603.2_Splice_Site	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5						axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGACCAAAAGGTATGGAGGCT	0.483000									Alport syndrome with Diffuse Leiomyomatosis				57	68					0	0	0.003610	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110437414	110437414	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr8:110437414C>T	ENST00000378402.5	+	24	2902	c.2798C>T	c.(2797-2799)cCt>cTt	p.P933L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	933					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GCATCTCCACCTCTAAGTGGC	0.348000										HNSCC(38;0.096)			8	20					0	0	0.003080	0	0
ZNF665	79788	broad.mit.edu	37	19	53669139	53669139	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:53669139C>T	ENST00000600412.1	-	2	524	c.409G>A	c.(409-411)Gga>Aga	p.G137R	ZNF665_ENST00000396424.3_Missense_Mutation_p.G202R			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		GGCTTCTCTCCAGTATGAATT	0.388000													66	54					0	0	0.003610	0	0
KLHL4	56062	broad.mit.edu	37	X	86873070	86873070	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:86873070G>A	ENST00000373119.4	+	4	1008	c.863G>A	c.(862-864)cGa>cAa	p.R288Q	KLHL4_ENST00000373114.4_Missense_Mutation_p.R288Q	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	288						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TTAGGGATTCGATCATTTGGA	0.418000													12	44					0	0	0.002450	0	0
DRD2	1813	broad.mit.edu	37	11	113286293	113286293	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr11:113286293G>A	ENST00000362072.3	-	5	917	c.573C>T	c.(571-573)gtC>gtT	p.V191V	DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000542968.1_Silent_p.V191V|DRD2_ENST00000355319.2_Silent_p.V191V|DRD2_ENST00000544518.1_Silent_p.V190V|DRD2_ENST00000346454.3_Silent_p.V191V|DRD2_ENST00000538967.1_Silent_p.V191V	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	191	Agonist binding (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	TGGAGGAGTAGACCACGAAGG	0.597000													8	18					0	0	0.003080	0	0
PHF8	23133	broad.mit.edu	37	X	54014280	54014280	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:54014280C>T	ENST00000338154.6	-	15	2332	c.1828G>A	c.(1828-1830)Gaa>Aaa	p.E610K	PHF8_ENST00000338946.6_Missense_Mutation_p.E509K|PHF8_ENST00000357988.5_Missense_Mutation_p.E646K|PHF8_ENST00000322659.8_Missense_Mutation_p.E610K	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	646					brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						AAGTCAAATTCGTCTTCCATC	0.453000													26	24					0	0	0.006320	0	0
MYOCD	93649	broad.mit.edu	37	17	12656451	12656451	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:12656451G>A	ENST00000425538.1	+	10	2046	c.1846G>A	c.(1846-1848)Gag>Aag	p.E616K	MYOCD_ENST00000395988.1_Missense_Mutation_p.E520K|MYOCD_ENST00000343344.4_Missense_Mutation_p.E616K	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	616					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TCATTGTGTGGAGTCCTCAGA	0.517000													47	111					0	0	0.003610	0	0
SAGE1	55511	broad.mit.edu	37	X	134992215	134992215	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:134992215G>A	ENST00000535938.1	+	15	1917	c.1750G>A	c.(1750-1752)Gaa>Aaa	p.E584K	SAGE1_ENST00000537770.1_Missense_Mutation_p.E208K|SAGE1_ENST00000370709.3_Missense_Mutation_p.E584K|SAGE1_ENST00000324447.3_Missense_Mutation_p.E584K	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	584										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CAATGTCCATGAAGAGAAGAT	0.408000													24	78					0	0	0.003954	0	0
FBN1	2200	broad.mit.edu	37	15	48782256	48782256	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr15:48782256G>A	ENST00000316623.5	-	25	3329	c.2874C>T	c.(2872-2874)tgC>tgT	p.C958C		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	958	TB 5.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ACCTCAGGAAGCAGGTTTCCA	0.587000													19	23					0	0	0.007413	0	0
DUSP15	128853	broad.mit.edu	37	20	30438438	30438438	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr20:30438438G>A	ENST00000278979.3	-	7	544	c.468C>T	c.(466-468)tgC>tgT	p.C156C				Q9H1R2	DUS15_HUMAN	dual specificity phosphatase 15	156						cytoplasm|plasma membrane	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TCATCGGAGGGCATTGGGCAC	0.602000													6	16					0	0	0.003080	0	0
CPA1	1357	broad.mit.edu	37	7	130025088	130025088	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr7:130025088G>A	ENST00000011292.3	+	8	1039	c.889G>A	c.(889-891)Ggg>Agg	p.G297R	CPA1_ENST00000484324.1_Missense_Mutation_p.G209R	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	297					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					GAAGGACCATGGGAACATCAA	0.527000													19	52					0	0	0.007413	0	0
SOX13	9580	broad.mit.edu	37	1	204091084	204091084	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:204091084G>A	ENST00000367204.1	+	8	941	c.832G>A	c.(832-834)Ggg>Agg	p.G278R		NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	278	Pro-rich.				anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			GAAGAGGCCTGGGGCCATGGC	0.637000													5	30					0	0	0.000602	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7518552	7518552	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:7518552C>T	ENST00000593531.1	+	10	1364	c.1364C>T	c.(1363-1365)tCc>tTc	p.S455F	ARHGEF18_ENST00000319670.9_Silent_p.L339L|ARHGEF18_ENST00000359920.6_Silent_p.L497L																							AGCGGCAGCTCCACCTGGAGG	0.582000													17	79					0	0	0.008871	0	0
CSMD1	64478	broad.mit.edu	37	8	2836281	2836281	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr8:2836281G>A	ENST00000520002.1	-	56	8977	c.8422C>T	c.(8422-8424)Cgt>Tgt	p.R2808C	CSMD1_ENST00000400186.3_Missense_Mutation_p.R2750C|CSMD1_ENST00000602557.1_Missense_Mutation_p.R2808C|CSMD1_ENST00000542608.1_Missense_Mutation_p.R2749C|CSMD1_ENST00000537824.1_Missense_Mutation_p.R2807C|CSMD1_ENST00000602723.1_Missense_Mutation_p.R2750C			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2808	Sushi 20.					integral to membrane		p.R2807C(1)|p.R2536C(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGCCCGTGACGAATGGCATTT	0.403000													15	7					0	0	0.006122	0	0
DGKD	8527	broad.mit.edu	37	2	234367008	234367008	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:234367008C>T	ENST00000264057.2	+	22	2671	c.2659C>T	c.(2659-2661)Cga>Tga	p.R887*	DGKD_ENST00000409813.3_Nonsense_Mutation_p.R843*	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	887					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	GGCCGTCTCTCGAGTCATCAG	0.587000													14	35					0	0	0.002450	0	0
NANOS3	342977	broad.mit.edu	37	19	13988138	13988138	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:13988138C>T	ENST00000397555.2	+	1	76	c.76C>T	c.(76-78)Cct>Tct	p.P26S	NANOS3_ENST00000339133.5_Missense_Mutation_p.P26S|NANOS3_ENST00000591161.1_Intron|NANOS3_ENST00000591727.1_Intron	NM_001098622.2	NP_001092092.1	P60323	NANO3_HUMAN	nanos homolog 3 (Drosophila)	26					anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|nucleus|stress granule	RNA binding|zinc ion binding			breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GAAAGAGGGTCCTGAAACCAG	0.642000													86	61					0	0	0.003610	0	0
MYO5B	4645	broad.mit.edu	37	18	47506853	47506853	+	Silent	SNP	C	C	T	rs139934455	by1000genomes	TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr18:47506853C>T	ENST00000285039.7	-	9	1316	c.1017G>A	c.(1015-1017)gcG>gcA	p.A339A		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	339	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CAGCCTGAATCGCCACACTTC	0.403000													10	28					0	0	0.000978	0	0
CHD4	1108	broad.mit.edu	37	12	6707398	6707398	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr12:6707398G>A	ENST00000309577.6	-	11	1839	c.1676C>T	c.(1675-1677)tCt>tTt	p.S559F	CHD4_ENST00000544040.1_Missense_Mutation_p.S552F|CHD4_ENST00000544484.1_Missense_Mutation_p.S556F|CHD4_ENST00000357008.2_Missense_Mutation_p.S559F			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	559	Chromo 1.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CTGCAGTTCAGAAACCCAGGA	0.517000													48	168					0	0	0.003610	0	0
COL2A1	1280	broad.mit.edu	37	12	48376722	48376722	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr12:48376722C>T	ENST00000380518.3	-	33	2266	c.2102G>A	c.(2101-2103)cGa>cAa	p.R701Q	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.R632Q	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	701	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TGGGAAACCTCGTTCACCCTG	0.622000													24	28					0	0	0.003330	0	0
ATP1A4	480	broad.mit.edu	37	1	160141494	160141494	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:160141494C>T	ENST00000368081.4	+	12	2272	c.1801C>T	c.(1801-1803)Ccc>Tcc	p.P601S	ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	601					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GATTGACCCTCCCCGAGCTGC	0.488000													139	84					0	0	0.003610	0	0
PIH1D3	139212	broad.mit.edu	37	X	106466000	106466000	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:106466000G>A	ENST00000535523.1	+	6	695	c.358G>A	c.(358-360)Gtg>Atg	p.V120M	PIH1D3_ENST00000336387.4_Missense_Mutation_p.V120M|PIH1D3_ENST00000372453.3_Missense_Mutation_p.V120M	NM_001169154.1	NP_001162625.1			PIH1 domain containing 3																		CAGACAGCAGGTGGGAACTGA	0.378000													25	108					0	0	0.008361	0	0
MYH1	4619	broad.mit.edu	37	17	10401165	10401165	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:10401165G>A	ENST00000226207.5	-	31	4345	c.4251C>T	c.(4249-4251)tcC>tcT	p.S1417S	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1417						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						TCTTCTCAAGGGAAGCACATT	0.478000													25	64					0	0	0.003954	0	0
ANKRD17	26057	broad.mit.edu	37	4	73962883	73962883	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr4:73962883G>C	ENST00000358602.4	-	27	5244	c.5128C>G	c.(5128-5130)Cct>Gct	p.P1710A	ANKRD17_ENST00000330838.6_Missense_Mutation_p.P1459A|ANKRD17_ENST00000509867.2_Missense_Mutation_p.P1597A	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1710					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CCACGCTTAGGACTTGCTACT	0.388000													38	97					0	0	0.002222	0	0
VPS8	23355	broad.mit.edu	37	3	184769774	184769774	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr3:184769774C>T	ENST00000437079.3	+	48	4419	c.4248C>T	c.(4246-4248)ttC>ttT	p.F1416F	VPS8_ENST00000446204.2_Silent_p.F1324F|VPS8_ENST00000287546.4_Silent_p.F1416F|VPS8_ENST00000436792.2_Silent_p.F1414F	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	1416							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			ATGAGAACTTCCAGCTGCAGC	0.562000													17	39					0	0	0.004990	0	0
ACACB	32	broad.mit.edu	37	12	109623461	109623461	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr12:109623461C>T	ENST00000338432.7	+	12	2015	c.1896C>T	c.(1894-1896)ccC>ccT	p.P632P	ACACB_ENST00000377854.5_Silent_p.P632P|ACACB_ENST00000377848.3_Silent_p.P632P			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	632	Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GAGTGACTCCCATTTCTTTTG	0.567000													26	22					0	0	0.006320	0	0
WIPF2	147179	broad.mit.edu	37	17	38430095	38430095	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:38430095C>T	ENST00000323571.4	+	6	1264	c.1024C>T	c.(1024-1026)Ccc>Tcc	p.P342S	WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000394103.3_Missense_Mutation_p.P84S|WIPF2_ENST00000583130.1_Missense_Mutation_p.P342S|WIPF2_ENST00000585043.1_Missense_Mutation_p.P342S|WIPF2_ENST00000536600.1_Missense_Mutation_p.P84S	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	342	Poly-Pro.					cytoplasm|cytoskeleton	actin binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						TGCTCCCCCTCCCCCACCACC	0.607000										HNSCC(43;0.11)			12	48					0	0	0.000978	0	0
CSTF2	1478	broad.mit.edu	37	X	100092352	100092352	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:100092352A>T	ENST00000415585.2	+	13	1607	c.1585A>T	c.(1585-1587)Atg>Ttg	p.M529L	CSTF2_ENST00000486615.1_3'UTR|CSTF2_ENST00000372972.2_Missense_Mutation_p.M509L			P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	509	Interaction with RPO2TC1.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						GGGAACAGGAATGCAAGGAGC	0.453000													38	27					0	0	0.006999	0	0
CSK	1445	broad.mit.edu	37	15	75094397	75094397	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr15:75094397C>T	ENST00000220003.9	+	12	1872	c.1143C>T	c.(1141-1143)tcC>tcT	p.S381S	CSK_ENST00000567571.1_Silent_p.S381S|CSK_ENST00000439220.2_Silent_p.S381S|CSK_ENST00000309470.9_Silent_p.S381S	NM_004383.2	NP_004374.1	P41240	CSK_HUMAN	c-src tyrosine kinase	381	Protein kinase.				blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway	centrosome|cytosol|Golgi apparatus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding			central_nervous_system(1)|lung(2)	3						AAATCTACTCCTTTGGGCGAG	0.542000													29	89					0	0	0.002836	0	0
NLRP2	55655	broad.mit.edu	37	19	55508784	55508784	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:55508784C>T	ENST00000543010.1	+	12	3122	c.2979C>T	c.(2977-2979)ccC>ccT	p.P993P	NLRP2_ENST00000538819.1_Silent_p.P969P|NLRP2_ENST00000339757.7_Silent_p.P971P|NLRP2_ENST00000448584.2_Silent_p.P993P|NLRP2_ENST00000427260.2_Silent_p.P970P|NLRP2_ENST00000537859.1_Silent_p.P971P|NLRP2_ENST00000391721.4_Silent_p.P969P|NLRP2_ENST00000263437.6_Silent_p.P990P	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	993					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GTCAGAATCCCTTGGGGTCTA	0.542000													95	72					0	0	0.003610	0	0
ANKRD24	170961	broad.mit.edu	37	19	4219741	4219741	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:4219741G>A	ENST00000600132.1	+	19	3433	c.3157G>A	c.(3157-3159)Gag>Aag	p.E1053K	ANKRD24_ENST00000318934.4_Missense_Mutation_p.E1053K|ANKRD24_ENST00000262970.5_Missense_Mutation_p.E1143K	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	1053										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		CAAGGCCAAGGAGAAGGACAA	0.647000													20	44					0	0	0.008871	0	0
CHI3L1	1116	broad.mit.edu	37	1	203150327	203150327	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:203150327C>T	ENST00000255409.3	-	7	799	c.674G>A	c.(673-675)gGt>gAt	p.G225D		NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN	chitinase 3-like 1 (cartilage glycoprotein-39)	225					chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						ATCCTCCTGACCTCGGAACAG	0.577000													29	143					0	0	0.002096	0	0
ZNF544	27300	broad.mit.edu	37	19	58772459	58772459	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:58772459G>A	ENST00000269829.4	+	7	961	c.487G>A	c.(487-489)Gga>Aga	p.G163R	ZNF544_ENST00000596929.1_Intron|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000599953.1_Missense_Mutation_p.G21R|ZNF544_ENST00000415203.2_Missense_Mutation_p.G135R|ZNF544_ENST00000595981.1_Intron|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000600044.1_Missense_Mutation_p.G135R|ZNF544_ENST00000600220.1_Missense_Mutation_p.G135R|ZNF544_ENST00000596652.1_Missense_Mutation_p.G163R|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000596825.1_3'UTR	NM_014480.2	NP_055295.2	Q6NX49	ZN544_HUMAN	zinc finger protein 544	163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		TGAACTTGGGGGAGGTTATTC	0.438000													10	48					0	0	0.000978	0	0
CDK2AP1	8099	broad.mit.edu	37	12	123749768	123749768	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr12:123749768C>A	ENST00000542174.1	-	2	994	c.171G>T	c.(169-171)aaG>aaT	p.K57N	CDK2AP1_ENST00000538446.1_Missense_Mutation_p.K57N|CDK2AP1_ENST00000544658.1_Missense_Mutation_p.K57N|CDK2AP1_ENST00000261692.2_Missense_Mutation_p.K85N|CDK2AP1_ENST00000535979.1_Missense_Mutation_p.K57N			O14519	CDKA1_HUMAN	cyclin-dependent kinase 2 associated protein 1	85					DNA-dependent DNA replication|protein phosphorylation|S phase of mitotic cell cycle	cytoplasm|nucleus	DNA binding|protein binding			lung(2)|stomach(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000554)|Epithelial(86;0.00178)		CCATGGCACTCTTGCTCCCTG	0.577000													81	165					1.17954e-47	2.08592e-47	0.003610	1	0
SPAG17	200162	broad.mit.edu	37	1	118523996	118523996	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:118523996C>T	ENST00000336338.5	-	43	5966	c.5901G>A	c.(5899-5901)caG>caA	p.Q1967Q	SPAG17_ENST00000492438.1_5'UTR	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1967						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTGAGGATTTCTGTTCTGAAA	0.338000													14	98					0	0	0.004990	0	0
DCC	1630	broad.mit.edu	37	18	50961561	50961561	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr18:50961561G>A	ENST00000442544.2	+	22	3827	c.3211G>A	c.(3211-3213)Gat>Aat	p.D1071N	DCC_ENST00000581580.1_Missense_Mutation_p.D706N	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1071					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TAATTTGATTGATAGAAGCAC	0.328000													114	115					0	0	0.003610	0	0
SLC12A1	6557	broad.mit.edu	37	15	48539583	48539583	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr15:48539583G>A	ENST00000396577.3	+	13	1825	c.1610G>A	c.(1609-1611)gGa>gAa	p.G537E	SLC12A1_ENST00000380993.3_Missense_Mutation_p.G537E|SLC12A1_ENST00000558405.1_Missense_Mutation_p.G537E	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	537					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TTTGCAAAGGGATATGGGAAA	0.348000													31	33					0	0	0.003271	0	0
ZBTB21	49854	broad.mit.edu	37	21	43412714	43412714	+	Silent	SNP	T	T	C			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr21:43412714T>C	ENST00000310826.5	-	3	1674	c.1491A>G	c.(1489-1491)ttA>ttG	p.L497L	ZBTB21_ENST00000398499.1_Silent_p.L497L|ZBTB21_ENST00000398511.3_Silent_p.L497L|ZBTB21_ENST00000398505.3_Silent_p.L497L|ZBTB21_ENST00000465968.1_Intron	NM_001098402.1	NP_001091872.1			zinc finger and BTB domain containing 21																		CATTCACCTTTAACTTCTTAA	0.443000													67	83					0	0	0.003610	0	0
CHN1	1123	broad.mit.edu	37	2	175664938	175664938	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:175664938G>A	ENST00000409900.3	-	13	1599	c.1286C>T	c.(1285-1287)tCt>tTt	p.S429F	CHN1_ENST00000488080.1_5'UTR|CHN1_ENST00000409597.1_Missense_Mutation_p.S245F|CHN1_ENST00000409156.3_Missense_Mutation_p.S403F|CHN1_ENST00000295497.7_Missense_Mutation_p.S304F	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	429	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			TAGTTCTGGAGATCTCATAAG	0.408000			T	TAF15	extraskeletal myxoid chondrosarcoma								38	26					0	0	0.004878	0	0
OR2A12	346525	broad.mit.edu	37	7	143793069	143793069	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr7:143793069G>A	ENST00000408949.2	+	1	929	c.869G>A	c.(868-870)aGc>aAc	p.S290N		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					CTCATCTACAGCCTTAGGAAT	0.463000													85	238					0	0	0.003610	0	0
IL16	3603	broad.mit.edu	37	15	81591938	81591938	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr15:81591938C>T	ENST00000394660.2	+	14	2631	c.2271C>T	c.(2269-2271)acC>acT	p.T757T	IL16_ENST00000302987.4_Silent_p.T757T|IL16_ENST00000560230.1_3'UTR|IL16_ENST00000394652.2_Silent_p.T56T	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	757					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CAGATGGGACCCCACCAAAGC	0.552000													21	85					0	0	0.001882	0	0
GSDMB	55876	broad.mit.edu	37	17	38065230	38065230	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:38065230G>A	ENST00000394175.2	-	4	865	c.642C>T	c.(640-642)ttC>ttT	p.F214F	GSDMB_ENST00000418519.1_Silent_p.F214F|GSDMB_ENST00000309481.7_Silent_p.F214F|GSDMB_ENST00000394179.1_Silent_p.F214F|GSDMB_ENST00000360317.3_Silent_p.F214F|GSDMB_ENST00000520542.1_Silent_p.F214F	NM_018530.2	NP_061000.2	Q8TAX9	GSDMB_HUMAN	gasdermin B	214						cytoplasm				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						CCTTGTTGGGGAAGACAAGCT	0.552000													98	109					0	0	0.003610	0	0
FMO4	2329	broad.mit.edu	37	1	171310800	171310800	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:171310800G>A	ENST00000367749.3	+	10	1829	c.1499G>A	c.(1498-1500)cGa>cAa	p.R500Q		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	500					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	p.R500Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TTAAAAACTCGAATTGTCCCT	0.478000													22	24					0	0	0.001882	0	0
C5	727	broad.mit.edu	37	9	123742513	123742513	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr9:123742513A>G	ENST00000223642.1	-	28	3535	c.3506T>C	c.(3505-3507)aTt>aCt	p.I1169T		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1169					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	GTCAGCTTTAATTAGAGCTGT	0.418000													24	43					0	0	0.005443	0	0
FAT3	120114	broad.mit.edu	37	11	92507292	92507292	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr11:92507292C>T	ENST00000298047.6	+	6	4298	c.4281C>T	c.(4279-4281)tcC>tcT	p.S1427S	FAT3_ENST00000409404.2_Silent_p.S1427S|FAT3_ENST00000525166.1_Silent_p.S1277S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1427	Cadherin 13.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGCAGAGGTCCATCTATAATA	0.448000										TCGA Ovarian(4;0.039)			101	206					0	0	0.003610	0	0
LOC101927079	101927079	broad.mit.edu	37	15	22332492	22332492	+	RNA	SNP	A	A	C			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr15:22332492A>C	ENST00000558896.1	+	0	299																											TATTTCTCTTATTACTATTTT	0.383000													4	137					0	0	0.000248	0	0
FEM1A	55527	broad.mit.edu	37	19	4793180	4793180	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:4793180C>T	ENST00000269856.3	+	1	1453	c.1314C>T	c.(1312-1314)ttC>ttT	p.F438F	AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	438					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		TCCTCTCCTTCGCGGAACTCT	0.612000													64	129					0	0	0.003610	0	0
RASGRF1	5923	broad.mit.edu	37	15	79341874	79341874	+	Silent	SNP	G	G	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr15:79341874G>T	ENST00000419573.3	-	4	862	c.588C>A	c.(586-588)ccC>ccA	p.P196P	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.P196P	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	196					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CTTCATCGTTGGGGGCGACAG	0.552000													36	33					6.99958e-10	1.22858e-09	0.006999	1	0
DSG4	147409	broad.mit.edu	37	18	28989470	28989470	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr18:28989470G>A	ENST00000359747.4	+	13	2018	c.1989G>A	c.(1987-1989)ctG>ctA	p.L663L	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Silent_p.L663L	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	663					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CAGAAGGCCTGGGAACAAGAT	0.542000													40	90					0	0	0.006230	0	0
DUSP27	92235	broad.mit.edu	37	1	167097470	167097470	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:167097470G>A	ENST00000361200.2	+	6	3268	c.3102G>A	c.(3100-3102)gaG>gaA	p.E1034E	DUSP27_ENST00000443333.1_Silent_p.E1034E|DUSP27_ENST00000271385.5_Silent_p.E1034E|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1034	Ser-rich.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GTTCCCGAGAGGAGAGCCCAG	0.577000													33	21					0	0	0.003271	0	0
MAN2B2	23324	broad.mit.edu	37	4	6612845	6612845	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr4:6612845C>T	ENST00000285599.3	+	15	2439	c.2403C>T	c.(2401-2403)ttC>ttT	p.F801F	MAN2B2_ENST00000504248.1_Silent_p.F750F	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	801					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						GGAACAACTTCGACTGGGACC	0.657000													11	19					0	0	0.008291	0	0
OR2A25	392138	broad.mit.edu	37	7	143771642	143771642	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr7:143771642A>T	ENST00000408898.2	+	1	368	c.330A>T	c.(328-330)gaA>gaT	p.E110D		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					CACATACAGAATGTCTCCTCC	0.512000													34	62					0	0	0.002836	0	0
SP140	11262	broad.mit.edu	37	2	231134668	231134668	+	Splice_Site	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:231134668G>A	ENST00000392045.3	+	14	1558	c.1444_splice	c.e14+1	p.D482_splice	SP140_ENST00000420434.3_Splice_Site_p.D455_splice|SP140_ENST00000486687.2_Splice_Site_p.D406_splice|SP140_ENST00000417495.3_Splice_Site_p.D368_splice|SP140_ENST00000350136.5_Splice_Site_p.D351_splice|SP140_ENST00000343805.6_Splice_Site_p.D422_splice	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	482					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TGGCACAATGGGTAAGGCTGT	0.542000													13	34					0	0	0.003163	0	0
KCNU1	157855	broad.mit.edu	37	8	36793381	36793381	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr8:36793381G>A	ENST00000399881.3	+	27	3430	c.3393G>A	c.(3391-3393)agG>agA	p.R1131R		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	1131						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		AAAATGAAAGGAAAACTTCAG	0.383000													47	42					0	0	0.003610	0	0
SH3GLB2	56904	broad.mit.edu	37	9	131777152	131777152	+	Silent	SNP	T	T	C			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr9:131777152T>C	ENST00000372564.3	-	4	511	c.366A>G	c.(364-366)gaA>gaG	p.E122E	SH3GLB2_ENST00000372554.4_Silent_p.E122E|SH3GLB2_ENST00000416629.1_Silent_p.E122E|SH3GLB2_ENST00000417224.1_Silent_p.E122E|SH3GLB2_ENST00000372559.1_Silent_p.E122E	NM_020145.2	NP_064530.1	Q9NR46	SHLB2_HUMAN	SH3-domain GRB2-like endophilin B2	122	BAR.				filopodium assembly|signal transduction	cytoplasm|nucleus	cytoskeletal adaptor activity|SH3 domain binding			NS(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)	12						CCAGTTGCTTTTCAGCTTCTG	0.547000													56	86					0	0	0.003610	0	0
LARS2	23395	broad.mit.edu	37	3	45537800	45537800	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr3:45537800G>A	ENST00000415258.1	+	13	1698	c.1557G>A	c.(1555-1557)acG>acA	p.T519T	LARS2_ENST00000265537.3_Silent_p.T519T|LARS2_ENST00000414984.1_Silent_p.T476T|LARS2-AS1_ENST00000442534.2_RNA			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	519					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	AGACAGACACGATGGATACCT	0.393000													39	137					0	0	0.004878	0	0
AK9	221264	broad.mit.edu	37	6	109850223	109850223	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr6:109850223T>A	ENST00000424296.2	-	29	3700	c.3624A>T	c.(3622-3624)aaA>aaT	p.K1208N	AK9_ENST00000341338.6_Missense_Mutation_p.K287N|AK9_ENST00000355283.1_Missense_Mutation_p.K287N	NM_001145128.2	NP_001138600.2			adenylate kinase 9																		CCTCCCTCCTTTTTTTATCTC	0.373000													37	51					0	0	0.005524	0	0
CYP4F2	8529	broad.mit.edu	37	19	15997107	15997107	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:15997107C>T	ENST00000221700.5	-	8	1025	c.930G>A	c.(928-930)ggG>ggA	p.G310G	CYP4F2_ENST00000011989.7_Intron|CYP4F2_ENST00000592328.1_Silent_p.G310G	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	310					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ATAACTTCTTCCCGTCTTCAT	0.532000													62	178					0	0	0.003610	0	0
FGG	2266	broad.mit.edu	37	4	155528085	155528085	+	Missense_Mutation	SNP	G	G	A	rs121913087		TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr4:155528085G>A	ENST00000404648.3	-	8	1140	c.901C>T	c.(901-903)Cgc>Tgc	p.R301C	FGG_ENST00000407946.1_Missense_Mutation_p.R309C|FGG_ENST00000405164.1_Missense_Mutation_p.R309C|FGG_ENST00000336098.3_Missense_Mutation_p.R301C	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	301	Fibrinogen C-terminal.		R -> C (in Tochigi/Osaka-2/Milano-5/ Villajoyosa).|R -> H (in Bergamo-2/Essen/Haifa/Osaka-3/ Perugia/Saga/Barcelona-3/Barcelona-4).		platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TATGTTAGGCGGTACTTGTCA	0.478000													28	53					0	0	0.001786	0	0
MAP1B	4131	broad.mit.edu	37	5	71494859	71494859	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr5:71494859G>A	ENST00000296755.7	+	5	5975	c.5677G>A	c.(5677-5679)Gag>Aag	p.E1893K		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1893						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TGAGTCTTATGAGAAGACCAC	0.463000													19	62					0	0	0.008871	0	0
AASDH	132949	broad.mit.edu	37	4	57209809	57209809	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr4:57209809G>A	ENST00000602986.1	-	11	2550	c.2071C>T	c.(2071-2073)Ctt>Ttt	p.L691F	AASDH_ENST00000513376.1_Silent_p.V798V|AASDH_ENST00000451613.1_Intron|AASDH_ENST00000205214.6_Silent_p.V898V|AASDH_ENST00000434343.2_Silent_p.V413V			Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	0					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				GAGAGGAAAAGACAGTTCCTC	0.348000													8	13					0	0	0.006214	0	0
CARD17	440068	broad.mit.edu	37	11	104971399	104971399	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr11:104971399C>T	ENST00000375707.1	-	2	131	c.115G>A	c.(115-117)Gag>Aag	p.E39K	CASP1_ENST00000415981.2_Intron|CARD16_ENST00000525374.1_Intron|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000598974.1_Intron|CASP1_ENST00000593315.1_Intron	NM_001007232.1	NP_001007233.1			caspase recruitment domain family, member 17											breast(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	6						ATCTCTATCTCTTCCTGGCTC	0.448000													8	100					0	0	0.003080	0	0
C7orf62	219557	broad.mit.edu	37	7	88424233	88424233	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr7:88424233C>T	ENST00000297203.2	-	2	209	c.24G>A	c.(22-24)caG>caA	p.Q8Q	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	8										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						TGCTGCCCTTCTGGTTATGGA	0.423000													28	102					0	0	0.001786	0	0
CILP	8483	broad.mit.edu	37	15	65491300	65491300	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr15:65491300C>T	ENST00000261883.4	-	9	1490	c.1324G>A	c.(1324-1326)Gat>Aat	p.D442N		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	442					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						ATCCCATTATCCTGCTGCCCT	0.537000													14	42					0	0	0.003163	0	0
SLC12A8	84561	broad.mit.edu	37	3	124807165	124807165	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr3:124807165G>A	ENST00000423114.2	-	13	2057	c.2058C>T	c.(2056-2058)ctC>ctT	p.L686L	SLC12A8_ENST00000393469.4_Silent_p.L657L|SLC12A8_ENST00000314584.7_Intron|SLC12A8_ENST00000469902.1_Silent_p.L657L|SLC12A8_ENST00000465475.1_Intron|SLC12A8_ENST00000430155.2_Silent_p.L458L			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	657					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						TGCAGGAGGGGAGCAAGAGAG	0.517000													16	22					0	0	0.006122	0	0
RCC1	1104	broad.mit.edu	37	1	28858821	28858821	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:28858821C>T	ENST00000373833.6	+	7	685	c.400C>T	c.(400-402)Ctc>Ttc	p.L134F	RCC1_ENST00000373831.3_Missense_Mutation_p.L165F|RCC1_ENST00000429051.1_3'UTR|RCC1_ENST00000398958.2_Missense_Mutation_p.L134F|RCC1_ENST00000373832.1_Missense_Mutation_p.L134F			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	134					cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		CACAGCAGCCCTCACCGATGA	0.577000													10	32					0	0	0.008291	0	0
HGSNAT	138050	broad.mit.edu	37	8	43046651	43046651	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr8:43046651C>T	ENST00000458501.2	+	12	1247	c.1247C>T	c.(1246-1248)tCc>tTc	p.S416F	HGSNAT_ENST00000521576.1_Missense_Mutation_p.S105F|HGSNAT_ENST00000297798.7_Missense_Mutation_p.S120F|HGSNAT_ENST00000379644.4_Missense_Mutation_p.S388F			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	416					lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			GACATCACGTCCAGCTGGCCC	0.557000													96	86					0	0	0.003610	0	0
PRPS2	5634	broad.mit.edu	37	X	12838868	12838868	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:12838868C>T	ENST00000380668.5	+	6	938	c.810C>T	c.(808-810)gtC>gtT	p.V270V	PRPS2_ENST00000398491.2_Silent_p.V273V	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	270					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						AGGCTGTTGTCGTCACAAACA	0.473000													38	38					0	0	0.004878	0	0
CENPE	1062	broad.mit.edu	37	4	104079935	104079935	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr4:104079935G>T	ENST00000265148.3	-	23	2799	c.2710C>A	c.(2710-2712)Caa>Aaa	p.Q904K	CENPE_ENST00000380026.3_Missense_Mutation_p.Q879K	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	904					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TCTACAGTTTGCAGCGTAGAA	0.358000													18	24					6.94344e-10	1.22055e-09	0.006122	1	0
CDADC1	81602	broad.mit.edu	37	13	49860415	49860415	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr13:49860415G>A	ENST00000251108.6	+	9	1581	c.1468G>A	c.(1468-1470)Gaa>Aaa	p.E490K	CDADC1_ENST00000444959.1_Missense_Mutation_p.E292K	NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1	490							hydrolase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		TGAAAGGAGAGAAAGTAAGTA	0.353000													33	34					0	0	0.004878	0	0
TMEM200A	114801	broad.mit.edu	37	6	130761987	130761987	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr6:130761987C>T	ENST00000392429.1	+	2	2798	c.420C>T	c.(418-420)ttC>ttT	p.F140F	TMEM200A_ENST00000296978.3_Silent_p.F140F|TMEM200A_ENST00000545622.1_Silent_p.F140F	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	140						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TTTTCATTTTCATTTGTGCTA	0.413000													25	7					0	0	0.003330	0	0
DLG2	1740	broad.mit.edu	37	11	83344290	83344290	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr11:83344290G>A	ENST00000398309.2	-	14	2059	c.1589C>T	c.(1588-1590)tCc>tTc	p.S530F	DLG2_ENST00000376106.3_Missense_Mutation_p.S12F|DLG2_ENST00000532653.1_Missense_Mutation_p.S530F|DLG2_ENST00000537455.1_Missense_Mutation_p.S284F|DLG2_ENST00000376104.2_Missense_Mutation_p.S635F|DLG2_ENST00000280241.8_Missense_Mutation_p.S569F|DLG2_ENST00000524982.1_Missense_Mutation_p.S530F|DLG2_ENST00000531015.1_Missense_Mutation_p.S497F|DLG2_ENST00000543673.1_Missense_Mutation_p.S635F|DLG2_ENST00000426717.2_Missense_Mutation_p.S12F|DLG2_ENST00000404783.3_Missense_Mutation_p.S12F|DLG2_ENST00000418306.2_Missense_Mutation_p.S427F|DLG2_ENST00000330014.6_Missense_Mutation_p.S469F|DLG2_ENST00000398304.1_Missense_Mutation_p.S12F|DLG2_ENST00000530800.1_Missense_Mutation_p.S39F	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	530						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	p.S530F(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GGTTCGCAGGGATCCGGACCC	0.473000													17	24					0	0	0.007413	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125298919	125298919	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:125298919G>A	ENST00000538699.1	-	2	1069	c.989C>T	c.(988-990)tCc>tTc	p.S330F	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.S330F	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	330										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						ATCCAGGAAGGAGACGTGGGA	0.617000													31	95					0	0	0.002096	0	0
EFR3A	23167	broad.mit.edu	37	8	132991155	132991155	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr8:132991155C>T	ENST00000254624.5	+	13	1613	c.1388C>T	c.(1387-1389)cCt>cTt	p.P463L	EFR3A_ENST00000334503.4_Missense_Mutation_p.P463L|EFR3A_ENST00000519656.1_Missense_Mutation_p.P427L	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	463						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TTCCTGGATCCTTTGTTATCA	0.428000													20	60					0	0	0.007413	0	0
ANK1	286	broad.mit.edu	37	8	41522452	41522452	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr8:41522452C>T	ENST00000457297.1	-	1	352	c.90G>A	c.(88-90)agG>agA	p.R30R	ANK1_ENST00000522543.1_Silent_p.R30R|ANK1_ENST00000396945.1_Intron|ANK1_ENST00000396942.1_Intron|ANK1_ENST00000265709.8_Intron|RP11-930P14.1_ENST00000522388.1_RNA|ANK1_ENST00000289734.7_Intron|ANK1_ENST00000379758.2_Intron|ANK1_ENST00000352337.4_Intron|ANK1_ENST00000314214.8_Silent_p.R30R|ANK1_ENST00000522231.1_Silent_p.R30R|ANK1_ENST00000347528.4_Intron	NM_020480.4	NP_065213.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	0	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			ACAGGGACCCCCTGACAATGT	0.587000													8	26					0	0	0.003080	0	0
C1orf173	127254	broad.mit.edu	37	1	75055424	75055424	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:75055424C>T	ENST00000326665.5	-	12	2285	c.2067G>A	c.(2065-2067)ggG>ggA	p.G689G	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Silent_p.G492G	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	689	Glu-rich.							p.G689G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						AAACATGTTTCCCGGACTTCT	0.458000													39	87					0	0	0.005524	0	0
HYDIN	54768	broad.mit.edu	37	16	71015463	71015463	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr16:71015463G>A	ENST00000393567.2	-	29	4491	c.4341C>T	c.(4339-4341)atC>atT	p.I1447I		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1447										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GATGTGAACTGATAAAGCCCT	0.413000													26	106					0	0	0.008361	0	0
VARS	7407	broad.mit.edu	37	6	31747282	31747282	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr6:31747282G>A	ENST00000375663.3	-	28	3760	c.3320C>T	c.(3319-3321)gCc>gTc	p.A1107V		NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	1107					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CAGCTCAAGGGCGGCTTCTGC	0.687000													167	199					0	0	0.003610	0	0
EHD3	30845	broad.mit.edu	37	2	31483452	31483452	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:31483452A>T	ENST00000322054.5	+	4	864	c.579A>T	c.(577-579)aaA>aaT	p.K193N	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	193					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					ATGCCCACAAACTGGACATCT	0.537000													18	58					0	0	0.006122	0	0
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	rs121913254		TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:115256530G>T	ENST00000369535.4	-	3	434	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458000	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			238	75					1.38977e-115	2.4614e-115	0.003610	1	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274415	39274415	+	Silent	SNP	C	C	T	rs425487	by1000genomes	TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:39274415C>T	ENST00000391413.2	-	1	191	c.153G>A	c.(151-153)agG>agA	p.R51R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	51	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14).			keratin filament		p.R51R(6)		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)			AGCACTGGGGCCTGCAGCAGC	0.667000													4	55					0	0	0.000602	0	0
GPR116	221395	broad.mit.edu	37	6	46826901	46826901	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr6:46826901G>A	ENST00000283296.7	-	17	3027	c.2739C>T	c.(2737-2739)atC>atT	p.I913I	GPR116_ENST00000265417.7_Silent_p.I913I|GPR116_ENST00000456426.2_Silent_p.I771I|GPR116_ENST00000545669.1_Silent_p.I342I|GPR116_ENST00000362015.4_Silent_p.I913I	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	913					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TATTTTCCTGGATATCCTGGG	0.428000													46	60					0	0	0.003610	0	0
KRT26	353288	broad.mit.edu	37	17	38928008	38928008	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:38928008C>T	ENST00000335552.4	-	1	406	c.358G>A	c.(358-360)Gag>Aag	p.E120K		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	120	Linker 1.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				TCACATTTCTCGTACCAGCCC	0.498000													26	80					0	0	0.003330	0	0
ZNF749	388567	broad.mit.edu	37	19	57956042	57956042	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:57956042G>A	ENST00000334181.4	+	3	1776	c.1526G>A	c.(1525-1527)cGg>cAg	p.R509Q	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	509					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		ACTGGAGAACGGCCTTATGAA	0.453000													42	33					0	0	0.002222	0	0
AHNAK2	113146	broad.mit.edu	37	14	105418350	105418350	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr14:105418350C>T	ENST00000333244.5	-	7	3557	c.3438G>A	c.(3436-3438)gaG>gaA	p.E1146E	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1146						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACAGTTCCCCCTCCAGCCGCG	0.632000													74	188					0	0	0.003610	0	0
MGAM	8972	broad.mit.edu	37	7	141752634	141752634	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr7:141752634C>T	ENST00000475668.2	+	26	3063	c.3009C>T	c.(3007-3009)taC>taT	p.Y1003Y	MGAM_ENST00000549489.2_Silent_p.Y1003Y			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1003					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACGACCTATACTCTGTCAGTG	0.458000													33	116					0	0	0.005524	0	0
MYPN	84665	broad.mit.edu	37	10	69902729	69902729	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr10:69902729C>T	ENST00000358913.5	+	3	1423	c.935C>T	c.(934-936)tCc>tTc	p.S312F	MYPN_ENST00000354393.2_Missense_Mutation_p.S37F|MYPN_ENST00000540630.1_Missense_Mutation_p.S312F|MYPN_ENST00000373675.3_Missense_Mutation_p.S312F	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	312	Ig-like 1.|Interaction with CARP.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						CTTGAAAATTCCCCAGATATT	0.468000													40	13					0	0	0.008740	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95481214	95481214	+	RNA	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:95481214G>A	ENST00000432432.2	-	0	2146					NR_040113.1																						TTGTCTTACGGAACTTATCTT	0.323000													62	49					0	0	0.003610	0	0
SLC30A3	7781	broad.mit.edu	37	2	27481643	27481643	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:27481643G>A	ENST00000233535.4	-	2	607	c.255C>T	c.(253-255)gtC>gtT	p.V85V	SLC30A3_ENST00000447008.2_Silent_p.V80V	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	85					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGCCATGAAGACAAAGCAAA	0.607000													11	97					0	0	0.001855	0	0
OR10X1	128367	broad.mit.edu	37	1	158548760	158548760	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:158548760C>T	ENST00000368150.1	-	1	929	c.930G>A	c.(928-930)atG>atA	p.M310I		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M310I(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					AAGCATTTTTCATGTCCTTAT	0.438000													68	101					0	0	0.003610	0	0
MYH2	4620	broad.mit.edu	37	17	10432283	10432283	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:10432283C>T	ENST00000245503.5	-	27	3852	c.3468G>A	c.(3466-3468)ctG>ctA	p.L1156L	CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Silent_p.L1156L|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1156					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CGGCTTCTTCCAGCCTCTCGC	0.622000													48	110					0	0	0.003610	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342504	60342504	+	RNA	SNP	T	T	C			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:60342504T>C	ENST00000581291.1	-	0	1649																				breast(2)|kidney(1)|lung(2)	5						CAGTGCTGGGTGCACTGCAGG	0.637000													5	63					0	0	0.003080	0	0
CLNK	116449	broad.mit.edu	37	4	10599619	10599619	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr4:10599619G>A	ENST00000226951.6	-	3	305	c.66C>T	c.(64-66)ttC>ttT	p.F22F	CLNK_ENST00000507719.1_5'UTR|CLNK_ENST00000442825.2_5'UTR	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	22					immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						TTGGCAGACTGAAGTTCTGGA	0.338000													5	6					0	0	0.000602	0	0
AMER1	139285	broad.mit.edu	37	X	63412416	63412416	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:63412416C>T	ENST00000330258.3	-	2	1023	c.751G>A	c.(751-753)Gag>Aag	p.E251K	AMER1_ENST00000374869.3_Missense_Mutation_p.E251K|AMER1_ENST00000403336.1_Missense_Mutation_p.E251K	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									GCCATTTTCTCAGTAGCTGGT	0.537000													45	172					0	0	0.003610	0	0
TP53AIP1	63970	broad.mit.edu	37	11	128807690	128807690	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr11:128807690G>A	ENST00000602346.1	-	2	233	c.24C>T	c.(22-24)agC>agT	p.S8S	TP53AIP1_ENST00000458238.2_Silent_p.S8S|TP53AIP1_ENST00000531399.1_Silent_p.S8S|TP53AIP1_ENST00000530777.1_Silent_p.S8S	NM_001251964.1	NP_001238893.1	Q9HCN2	TPIP1_HUMAN	tumor protein p53 regulated apoptosis inducing protein 1	8					apoptosis	mitochondrion				large_intestine(1)|lung(1)|skin(1)	3						CAGATCTGAAGCTCGCCTCAG	0.597000													40	21					0	0	0.002522	0	0
NFATC3	4775	broad.mit.edu	37	16	68217229	68217229	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr16:68217229G>A	ENST00000349223.5	+	8	2282	c.2058G>A	c.(2056-2058)aaG>aaA	p.K686K	NFATC3_ENST00000346183.3_Silent_p.K686K|NFATC3_ENST00000575270.1_Silent_p.K686K|NFATC3_ENST00000329524.4_Silent_p.K686K|NFATC3_ENST00000535127.2_3'UTR	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	686					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		GCAATGGCAAGAGGAAAAAAA	0.398000													43	73					0	0	0.002222	0	0
PKD2L1	9033	broad.mit.edu	37	10	102089771	102089771	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr10:102089771G>A	ENST00000318222.3	-	1	472	c.90C>T	c.(88-90)tcC>tcT	p.S30S	PKD2L1_ENST00000338519.3_Silent_p.S30S|PKD2L1_ENST00000353274.3_Silent_p.S30S	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	30					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TCCCGTGTGGGGAAGGGGGAC	0.622000													27	47					0	0	0.006320	0	0
C7	730	broad.mit.edu	37	5	40955600	40955600	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr5:40955600G>A	ENST00000313164.9	+	10	1564	c.1205G>A	c.(1204-1206)cGa>cAa	p.R402Q		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	402	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				AACAAAAGGCGATATTCTGCC	0.438000													55	66					0	0	0.003610	0	0
ZNF226	7769	broad.mit.edu	37	19	44680334	44680334	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:44680334C>A	ENST00000590089.1	+	7	1286	c.919C>A	c.(919-921)Ctt>Att	p.L307I	ZNF226_ENST00000337433.5_Missense_Mutation_p.L307I|ZNF226_ENST00000454662.2_Missense_Mutation_p.L307I|ZNF226_ENST00000588883.1_3'UTR			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	307					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				GGGAGAAAAACTTAAGTGTGA	0.433000													12	36					7.93312e-07	1.39037e-06	0.002450	1	0
TTC7A	57217	broad.mit.edu	37	2	47249053	47249053	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:47249053C>T	ENST00000319190.5	+	12	1813	c.1445C>T	c.(1444-1446)gCc>gTc	p.A482V	TTC7A_ENST00000394850.2_Missense_Mutation_p.A482V|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000409245.1_Missense_Mutation_p.A448V|TTC7A_ENST00000263737.6_Missense_Mutation_p.A128V	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	482							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GGAGAGGAAGCCGGGGAGTTC	0.607000													45	47					0	0	0.002852	0	0
MKRN3	7681	broad.mit.edu	37	15	23811889	23811889	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr15:23811889G>A	ENST00000314520.3	+	1	1436	c.960G>A	c.(958-960)gaG>gaA	p.E320E	MKRN3_ENST00000568945.1_Intron|MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	320						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TTGTCTATGAGAAGGCCAACC	0.507000													32	34					0	0	0.003271	0	0
PAPL	390928	broad.mit.edu	37	19	39597640	39597640	+	Silent	SNP	C	C	T	rs142073546		TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:39597640C>T	ENST00000331256.5	+	12	1441	c.1167C>T	c.(1165-1167)gcC>gcT	p.A389A	PAPL_ENST00000594229.1_Intron	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		389						extracellular region	acid phosphatase activity|metal ion binding										CCTGGAGTGCCGTGCGTGTGA	0.652000													6	35					0	0	0.001984	0	0
KIAA1217	56243	broad.mit.edu	37	10	24831852	24831852	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr10:24831852G>A	ENST00000376451.2	+	14	2962	c.2702G>A	c.(2701-2703)tGg>tAg	p.W901*	KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000376454.3_Nonsense_Mutation_p.W1218*|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000458595.1_Intron			Q5T5P2	SKT_HUMAN	KIAA1217	1218					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CCTCCTAAGTGGGAAAGAGGA	0.423000													21	8					0	0	0.001523	0	0
KDM5C	8242	broad.mit.edu	37	X	53240720	53240720	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:53240720G>A	ENST00000452825.3	-	8	1691	c.1159C>T	c.(1159-1161)Cct>Tct	p.P387S	KDM5C_ENST00000404049.3_Missense_Mutation_p.P453S|KDM5C_ENST00000375401.3_Missense_Mutation_p.P454S|KDM5C_ENST00000375383.3_Missense_Mutation_p.P413S|KDM5C_ENST00000375379.3_Missense_Mutation_p.P454S	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	454					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						TCACTGACAGGGAAACCGCTG	0.473000			"""N, F, S"""		clear cell renal carcinoma								16	37					0	0	0.006122	0	0
KCND2	3751	broad.mit.edu	37	7	120373061	120373061	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr7:120373061C>T	ENST00000331113.4	+	2	2185	c.1220C>T	c.(1219-1221)tCc>tTc	p.S407F		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	407					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					GTGATTGTATCCAACTTCAGT	0.483000													14	37					0	0	0.001855	0	0
APBA3	9546	broad.mit.edu	37	19	3759875	3759875	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:3759875C>T	ENST00000316757.3	-	2	588	c.388G>A	c.(388-390)Gag>Aag	p.E130K		NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 3	130					intracellular signal transduction|protein transport	intracellular|membrane	protein binding			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTAGAGGCTCTTCAGGACCA	0.647000													22	79					0	0	0.003954	0	0
PIK3CG	5294	broad.mit.edu	37	7	106522626	106522626	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr7:106522626G>A	ENST00000359195.3	+	7	2913	c.2603G>A	c.(2602-2604)gGt>gAt	p.G868D	PIK3CG_ENST00000466738.1_3'UTR|PIK3CG_ENST00000496166.1_Missense_Mutation_p.G868D|PIK3CG_ENST00000440650.2_Missense_Mutation_p.G868D	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	868	PI3K/PI4K.				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CTGCCATATGGTTGCATTTCA	0.378000													24	33					0	0	0.004656	0	0
ARSF	416	broad.mit.edu	37	X	3021913	3021913	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:3021913G>A	ENST00000381127.1	+	9	1434	c.1213G>A	c.(1213-1215)Gat>Aat	p.D405N	ARSF_ENST00000359361.2_Missense_Mutation_p.D405N|ARSF_ENST00000537104.1_Missense_Mutation_p.D405N	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	405						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AAGTTTAATGGATATTTTACC	0.483000													21	56					0	0	0.002299	0	0
WDR93	56964	broad.mit.edu	37	15	90270552	90270552	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr15:90270552C>T	ENST00000268130.7	+	9	1146	c.1045C>T	c.(1045-1047)Cca>Tca	p.P349S	WDR93_ENST00000560294.1_Missense_Mutation_p.P349S|WDR93_ENST00000444934.2_Missense_Mutation_p.P66S	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	349					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			GGAGGAAGAGCCACTCAGGTG	0.532000													5	30					0	0	0.000602	0	0
CACNA2D3	55799	broad.mit.edu	37	3	55107559	55107559	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr3:55107559C>T	ENST00000474759.1	+	36	3123	c.3075C>T	c.(3073-3075)atC>atT	p.I1025I	CACNA2D3_ENST00000478261.1_Intron|CACNA2D3_ENST00000490478.1_Silent_p.I931I|CACNA2D3_ENST00000415676.2_Silent_p.I1025I|CACNA2D3_ENST00000288197.5_Silent_p.I1025I	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	1025						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TGGCCCCCATCACCATGGCAC	0.522000													15	46					0	0	0.003163	0	0
ZC3HAV1L	92092	broad.mit.edu	37	7	138713678	138713678	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr7:138713678G>A	ENST00000275766.1	-	3	541	c.530C>T	c.(529-531)gCc>gTc	p.A177V		NM_080660.3	NP_542391.2	Q96H79	ZCCHL_HUMAN	zinc finger CCCH-type, antiviral 1-like	177								p.A177V(1)		NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1)	10						GCCATACAGGGCTTCCCCTTT	0.433000													11	26					0	0	0.008291	0	0
DARC	2532	broad.mit.edu	37	1	159176010	159176010	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:159176010G>A	ENST00000537147.1	+	3	1624	c.781G>A	c.(781-783)Gga>Aga	p.G261R	DARC_ENST00000368121.2_Missense_Mutation_p.G263R|DARC_ENST00000368122.2_Missense_Mutation_p.G261R			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor	261					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					GGTGGTTCTAGGACTGGATTT	0.567000													37	182					0	0	0.003755	0	0
NR3C2	4306	broad.mit.edu	37	4	149075791	149075791	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr4:149075791G>A	ENST00000355292.3	-	5	2650	c.2288C>T	c.(2287-2289)cCa>cTa	p.P763L	NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000342437.4_Intron|NR3C2_ENST00000511528.1_Missense_Mutation_p.P763L|NR3C2_ENST00000358102.3_Missense_Mutation_p.P759L|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000344721.4_Missense_Mutation_p.P759L|NR3C2_ENST00000512865.1_Intron			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	759	Steroid-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	GGCTGTATCTGGTTTTGAGCT	0.493000													63	79					0	0	0.003610	0	0
SYT3	84258	broad.mit.edu	37	19	51133395	51133395	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:51133395C>T	ENST00000338916.4	-	3	1341	c.708G>A	c.(706-708)caG>caA	p.Q236Q	SYT3_ENST00000600079.1_Silent_p.Q236Q|SYT3_ENST00000593901.1_Silent_p.Q236Q|SYT3_ENST00000544769.1_Silent_p.Q236Q	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	236						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		AGGTCAGAGTCTGCTGGGTGA	0.642000													18	18					0	0	0.004990	0	0
C1RL	51279	broad.mit.edu	37	12	7254617	7254617	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr12:7254617G>A	ENST00000266542.4	-	3	459	c.367C>T	c.(367-369)Cct>Tct	p.P123S	C1RL_ENST00000545337.1_Missense_Mutation_p.P123S|C1RL_ENST00000545280.1_Silent_p.P46P|C1RL_ENST00000544702.1_Missense_Mutation_p.P123S	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	123	CUB.				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CTCTGACCAGGGGGCCTGCCC	0.592000													53	122					0	0	0.003610	0	0
NACA	4666	broad.mit.edu	37	12	57111129	57111129	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr12:57111129G>A	ENST00000454682.1	-	3	4466	c.4185C>T	c.(4183-4185)atC>atT	p.I1395I	NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TGGGAGATGGGATAGCTGGTC	0.612000			T	BCL6	NHL								8	22					0	0	0.003080	0	0
FCRL3	115352	broad.mit.edu	37	1	157665255	157665255	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:157665255C>T	ENST00000368184.3	-	8	1566	c.1275G>A	c.(1273-1275)ggG>ggA	p.G425G	FCRL3_ENST00000368186.5_Silent_p.G425G|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	425	Ig-like C2-type 5.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CTGAGCTGTTCCCCAGGGTGA	0.577000													33	153					0	0	0.003755	0	0
C12orf50	160419	broad.mit.edu	37	12	88376933	88376933	+	Missense_Mutation	SNP	C	C	T	rs145797004		TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr12:88376933C>T	ENST00000298699.2	-	12	1346	c.1166G>A	c.(1165-1167)cGa>cAa	p.R389Q	C12orf50_ENST00000550553.1_Missense_Mutation_p.R350Q	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	389										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						AATTCGTTTTCGCCAGGCTGA	0.279000													47	57					0	0	0.003610	0	0
POLG	5428	broad.mit.edu	37	15	89873432	89873432	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr15:89873432G>A	ENST00000268124.5	-	3	1068	c.735C>T	c.(733-735)atC>atT	p.I245I	POLG_ENST00000442287.2_Silent_p.I245I	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	245					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			CCTCCAGGGGGATGAGGTCAG	0.612000								DNA polymerases (catalytic subunits)					41	27					0	0	0.008740	0	0
GCLC	2729	broad.mit.edu	37	6	53370239	53370239	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr6:53370239G>A	ENST00000229416.6	-	12	1829	c.1346C>T	c.(1345-1347)aCc>aTc	p.T449I	RP1-27K12.4_ENST00000508884.1_RNA	NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	449					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	GATCACTCTGGTGAGCAGTAC	0.393000													11	12					0	0	0.001855	0	0
VN1R2	317701	broad.mit.edu	37	19	53762553	53762553	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:53762553C>T	ENST00000341702.3	+	1	1009	c.925C>T	c.(925-927)Cct>Tct	p.P309S	VN1R2_ENST00000598458.1_3'UTR	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	309					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		CAACTCTTCTCCTGGGAACAG	0.483000													40	111					0	0	0.006230	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058665	152058665	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:152058665C>T	ENST00000368806.1	-	3	1557	c.1493G>A	c.(1492-1494)aGa>aAa	p.R498K		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	498							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			ATCTTGTGTTCTTTCTCTTGC	0.483000													208	94					0	0	0.003610	0	0
OR4A5	81318	broad.mit.edu	37	11	51411726	51411726	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr11:51411726T>A	ENST00000319760.6	-	1	722	c.670A>T	c.(670-672)Act>Tct	p.T224S		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				TGACTGTAAGTTTTAAGGGAG	0.418000													38	12					0	0	0.002522	0	0
A2ML1	144568	broad.mit.edu	37	12	8994057	8994057	+	Silent	SNP	G	G	A	rs75353365		TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr12:8994057G>A	ENST00000299698.7	+	11	1353	c.1173G>A	c.(1171-1173)ctG>ctA	p.L391L		NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	235						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						ACCAGACCCTGGTTACTGATA	0.483000													50	40					0	0	0.003610	0	0
RNASEH2A	10535	broad.mit.edu	37	19	12918083	12918083	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:12918083T>G	ENST00000221486.4	+	3	357	c.263T>G	c.(262-264)tTt>tGt	p.F88C		NM_006397.2	NP_006388.2	O75792	RNH2A_HUMAN	ribonuclease H2, subunit A	88					DNA replication|RNA catabolic process	nucleus|ribonuclease H2 complex	metal ion binding|ribonuclease H activity|RNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	14						GACACGGACTTTGTCGGCTGG	0.597000													48	126					0	0	0.003610	0	0
DENND4C	55667	broad.mit.edu	37	9	19346844	19346844	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr9:19346844C>G	ENST00000307015.9	+	19	3393	c.1641C>G	c.(1639-1641)ttC>ttG	p.F547L	DENND4C_ENST00000380432.2_Missense_Mutation_p.F1074L|DENND4C_ENST00000540671.1_Missense_Mutation_p.F404L|DENND4C_ENST00000602925.1_Missense_Mutation_p.F1310L|DENND4C_ENST00000434457.2_Missense_Mutation_p.F1359L			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1074						integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CTGGGCGTTTCAAGCAGCAAA	0.463000													39	27					0	0	0.006230	0	0
PCDHA4	56144	broad.mit.edu	37	5	140187544	140187544	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr5:140187544G>A	ENST00000530339.1	+	1	772	c.772G>A	c.(772-774)Gga>Aga	p.G258R	PCDHA4_ENST00000356878.4_Missense_Mutation_p.G258R|PCDHA4_ENST00000512229.2_Missense_Mutation_p.G258R|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTCCTAATGGAACATTGGT	0.373000													14	49					0	0	0.002450	0	0
OSBPL6	114880	broad.mit.edu	37	2	179170937	179170937	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:179170937C>T	ENST00000190611.4	+	3	402	c.26C>T	c.(25-27)tCc>tTc	p.S9F	OSBPL6_ENST00000409631.1_Missense_Mutation_p.S9F|OSBPL6_ENST00000392505.2_Missense_Mutation_p.S9F|OSBPL6_ENST00000357080.4_Missense_Mutation_p.S9F|OSBPL6_ENST00000359685.3_Missense_Mutation_p.S9F|OSBPL6_ENST00000409045.3_Missense_Mutation_p.S9F	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	9					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			AAGGGCATTTCCCCTGCTCAT	0.453000													31	92					0	0	0.003755	0	0
SPTBN4	57731	broad.mit.edu	37	19	41062007	41062007	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:41062007G>A	ENST00000352632.3	+	25	5188	c.5102G>A	c.(5101-5103)cGg>cAg	p.R1701Q	SPTBN4_ENST00000598249.1_Missense_Mutation_p.R1701Q|SPTBN4_ENST00000392023.1_Missense_Mutation_p.R377Q|SPTBN4_ENST00000392025.1_Missense_Mutation_p.R444Q|SPTBN4_ENST00000595535.1_Missense_Mutation_p.R1701Q|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R1701Q			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1701					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ATCAGCCGGCGGCAGTCTCAG	0.667000													20	14					0	0	0.007413	0	0
PCDH19	57526	broad.mit.edu	37	X	99662087	99662087	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:99662087G>A	ENST00000373034.4	-	1	3184	c.1509C>T	c.(1507-1509)ttC>ttT	p.F503F	PCDH19_ENST00000255531.7_Silent_p.F503F|PCDH19_ENST00000420881.2_Silent_p.F503F	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	503	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						AGACATAGGTGAAGACAGGCA	0.582000													79	67					0	0	0.003610	0	0
OR11H12	440153	broad.mit.edu	37	14	19378102	19378102	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr14:19378102G>A	ENST00000550708.1	+	1	581	c.509G>A	c.(508-510)tGg>tAg	p.W170*		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGATTTCTGTGGTTCCTGATC	0.488000													21	309					0	0	0.002096	0	0
FCGBP	8857	broad.mit.edu	37	19	40360893	40360893	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:40360893T>G	ENST00000221347.6	-	33	15522	c.15515A>C	c.(15514-15516)cAa>cCa	p.Q5172P		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5172	Cys-rich.|TIL 12.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCCACAATCTTGGACAGGGAT	0.607000													21	49					0	0	0.001523	0	0
DOCK6	57572	broad.mit.edu	37	19	11352739	11352739	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:11352739G>A	ENST00000294618.7	-	14	1636	c.1625C>T	c.(1624-1626)gCc>gTc	p.A542V		NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	542					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GGTATGGGGGGCATAGACTTC	0.612000													15	10					0	0	0.008871	0	0
VSIG8	391123	broad.mit.edu	37	1	159828675	159828675	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:159828675C>T	ENST00000368100.1	-	2	212	c.77G>A	c.(76-78)gGg>gAg	p.G26E	RP11-190A12.7_ENST00000544342.1_Silent_p.R33R	NM_001013661.1	NP_001013683.1	Q5VU13	VSIG8_HUMAN	V-set and immunoglobulin domain containing 8	26	Ig-like V-type 1.					integral to membrane				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	8	all_hematologic(112;0.0597)					CTGTCCATCCCCGTTGATCCG	0.602000													47	32					0	0	0.003610	0	0
DUSP27	92235	broad.mit.edu	37	1	167096059	167096059	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:167096059G>A	ENST00000361200.2	+	6	1857	c.1691G>A	c.(1690-1692)gGa>gAa	p.G564E	DUSP27_ENST00000443333.1_Missense_Mutation_p.G564E|DUSP27_ENST00000271385.5_Missense_Mutation_p.G564E|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	564					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TTGGGAGCGGGAGACAGCAGC	0.547000													64	33					0	0	0.003610	0	0
IL16	3603	broad.mit.edu	37	15	81591939	81591939	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr15:81591939C>T	ENST00000394660.2	+	14	2632	c.2272C>T	c.(2272-2274)Cca>Tca	p.P758S	IL16_ENST00000302987.4_Missense_Mutation_p.P758S|IL16_ENST00000560230.1_3'UTR|IL16_ENST00000394652.2_Missense_Mutation_p.P57S	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	758					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						AGATGGGACCCCACCAAAGCT	0.557000													20	88					0	0	0.001523	0	0
ABCG1	9619	broad.mit.edu	37	21	43702515	43702515	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr21:43702515C>T	ENST00000398437.1	+	7	1306	c.1158C>T	c.(1156-1158)ttC>ttT	p.F386F	ABCG1_ENST00000361802.2_Silent_p.F240F|ABCG1_ENST00000343687.3_Silent_p.F251F|ABCG1_ENST00000398449.3_Silent_p.F240F|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398457.2_Silent_p.F242F|ABCG1_ENST00000347800.2_Silent_p.F237F|ABCG1_ENST00000340588.4_Silent_p.F348F			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	240					amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	TCATGTTCTTCGATGAGCCCA	0.607000													8	27					0	0	0.003080	0	0
ANAPC2	29882	broad.mit.edu	37	9	140079372	140079372	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr9:140079372G>A	ENST00000323927.2	-	4	1045	c.1041C>T	c.(1039-1041)atC>atT	p.I347I		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	347					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		CACCTCGGACGATGCTGAAGA	0.677000													21	43					0	0	0.004656	0	0
SUZ12P1	440423	broad.mit.edu	37	17	29061941	29061941	+	RNA	SNP	T	T	C	rs112064181	by1000genomes	TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:29061941T>C	ENST00000582557.1	+	0	861																											TAGATTTCTTTGAACTCGGAA	0.303000													5	90					0	0	0.000602	0	0
OR5L2	26338	broad.mit.edu	37	11	55595525	55595525	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr11:55595525C>T	ENST00000378397.1	+	1	831	c.831C>T	c.(829-831)ttC>ttT	p.F277F		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CCACCGTGTTCTACACAGTTG	0.468000										HNSCC(27;0.073)			44	8					0	0	0.002522	0	0
FAM227B	196951	broad.mit.edu	37	15	49659751	49659751	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr15:49659751C>T	ENST00000299338.6	-	13	1468	c.1165G>A	c.(1165-1167)Ggt>Agt	p.G389S		NM_152647.2	NP_689860.2			family with sequence similarity 227, member B																		GGACTCTGACCTCCAAAATTG	0.353000													33	22					0	0	0.001786	0	0
ASIC2	40	broad.mit.edu	37	17	32483265	32483265	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:32483265C>T	ENST00000359872.6	-	1	1048	c.287G>A	c.(286-288)gGc>gAc	p.G96D		NM_001094.4	NP_001085.2	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	96					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	GAACCGGAAGCCATTCAGGTT	0.577000													39	32					0	0	0.006999	0	0
NEK2	4751	broad.mit.edu	37	1	211840482	211840482	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:211840482C>T	ENST00000366999.4	-	7	1215	c.1077G>A	c.(1075-1077)aaG>aaA	p.K359K	NEK2_ENST00000540251.1_Silent_p.K316K|NEK2_ENST00000366998.3_Silent_p.K359K|NEK2_ENST00000462283.1_5'UTR	NM_002497.3	NP_002488.1	P51955	NEK2_HUMAN	NIMA-related kinase 2	359	Interaction with PCNT.|Necessary for interaction with MAD1L1.|Required for microtubule binding and for localization to the centrosomes.				cell division|centrosome separation|G2/M transition of mitotic cell cycle|meiosis|protein autophosphorylation|regulation of mitosis	centrosome|condensed chromosome kinetochore|cytosol|nucleolus	ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity			breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		ACTTCCGTTCCTTTAGCAAGC	0.428000													77	47					0	0	0.003610	0	0
DNAH7	56171	broad.mit.edu	37	2	196602829	196602829	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:196602829C>T	ENST00000312428.6	-	65	11991	c.11891G>A	c.(11890-11892)aGg>aAg	p.R3964K	DNAH7_ENST00000484183.1_5'UTR|DNAH7_ENST00000409063.1_Missense_Mutation_p.R447K	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3964					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TATATCTGCCCTCTTACAGGG	0.413000													9	22					0	0	0.008291	0	0
MED13	9969	broad.mit.edu	37	17	60060325	60060325	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:60060325C>T	ENST00000397786.2	-	16	3115	c.3039G>A	c.(3037-3039)agG>agA	p.R1013R		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1013					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.R1013S(1)		breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TCCTTGGAGTCCTTGGAGTTG	0.502000													15	46					0	0	0.003163	0	0
SHROOM3	57619	broad.mit.edu	37	4	77660587	77660587	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr4:77660587G>A	ENST00000296043.6	+	5	2214	c.1261G>A	c.(1261-1263)Ggc>Agc	p.G421S		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	421					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			AAACTCTTTAGGCTCCCTGAA	0.557000													12	29					0	0	0.001368	0	0
VPS26A	9559	broad.mit.edu	37	10	70925797	70925797	+	Splice_Site	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr10:70925797G>A	ENST00000373382.1	+	8	1311		c.e8-1		VPS26A_ENST00000490696.1_Splice_Site|VPS26A_ENST00000489794.1_Splice_Site|VPS26A_ENST00000546041.1_Splice_Site|VPS26A_ENST00000541711.1_Splice_Site|VPS26A_ENST00000395098.1_Splice_Site|VPS26A_ENST00000263559.6_Splice_Site			O75436	VP26A_HUMAN	vacuolar protein sorting 26 homolog A (S. pombe)						retrograde transport, endosome to Golgi|vacuolar transport	cytosol|endosome membrane|retromer complex|vesicle	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)	8						TATTGCACTAGGACCCAGTAC	0.303000													17	11					0	0	0.008871	0	0
CDH6	1004	broad.mit.edu	37	5	31323206	31323206	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr5:31323206G>A	ENST00000265071.2	+	12	2429	c.2164G>A	c.(2164-2166)Gaa>Aaa	p.E722K		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	722					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.E722K(2)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AAGGTTAAAGGAAAATGACAC	0.562000													10	36					0	0	0.006214	0	0
UPF3B	65109	broad.mit.edu	37	X	118986799	118986799	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:118986799C>T	ENST00000276201.2	-	1	162	c.93G>A	c.(91-93)ggG>ggA	p.G31G	UPF3B_ENST00000345865.2_Silent_p.G31G	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	31	Necessary for interaction with UPF2.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						TGGAGCTGTCCCCCGAGGTCC	0.637000													119	95					0	0	0.003610	0	0
MIR509-2	100126301	broad.mit.edu	37	X	146340352	146340352	+	RNA	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:146340352G>A	ENST00000390724.1	-	0	16					NR_030586.1																						CTGCAGTAGGGTACCACACAC	0.438000													26	93					0	0	0.004878	0	0
IGHV4-61	28391	broad.mit.edu	37	14	107095544	107095544	+	RNA	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr14:107095544G>A	ENST00000390630.2	-	0	118																											GGAGGAGGAAGAACCACAGGT	0.527000													4	60					0	0	0.001168	0	0
CDKN1A	1026	broad.mit.edu	37	6	36652161	36652161	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr6:36652161C>T	ENST00000405375.1	+	2	518	c.283C>T	c.(283-285)Cct>Tct	p.P95S	CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000244741.5_Missense_Mutation_p.P95S|CDKN1A_ENST00000373711.2_Missense_Mutation_p.P95S|CDKN1A_ENST00000448526.2_Missense_Mutation_p.P129S	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	95					cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						AGGCAGGCGGCCTGGCACCTC	0.667000													9	22					0	0	0.004482	0	0
CTNND2	1501	broad.mit.edu	37	5	11082931	11082931	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr5:11082931G>A	ENST00000304623.8	-	16	2854	c.2665C>T	c.(2665-2667)Cga>Tga	p.R889*	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Nonsense_Mutation_p.R831*|CTNND2_ENST00000503622.1_Nonsense_Mutation_p.R552*|CTNND2_ENST00000511377.1_Nonsense_Mutation_p.R798*|CTNND2_ENST00000458100.2_Nonsense_Mutation_p.R456*	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	889					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.R889*(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TTCTCTTTTCGGACAGCGGCT	0.537000													34	35					0	0	0.005524	0	0
TRHR	7201	broad.mit.edu	37	8	110131468	110131468	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr8:110131468C>T	ENST00000518632.1	+	3	1332	c.981C>T	c.(979-981)ttC>ttT	p.F327F	TRHR_ENST00000311762.2_Silent_p.F327F			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	327						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CCCAGAAATTCCGTGCAGCCT	0.443000													36	98					0	0	0.003755	0	0
ARHGEF4	50649	broad.mit.edu	37	2	131688755	131688755	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:131688755G>A	ENST00000409359.1	+	3	3991	c.2793G>A	c.(2791-2793)caG>caA	p.Q931Q	ARHGEF4_ENST00000409303.1_Silent_p.Q75Q|ARHGEF4_ENST00000525839.1_Silent_p.Q75Q|ARHGEF4_ENST00000392953.3_Silent_p.Q75Q|ARHGEF4_ENST00000428230.2_Silent_p.Q75Q|ARHGEF4_ENST00000326016.5_Silent_p.Q75Q			Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	75					apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		AGAAGACACAGAGAAAGAAGT	0.597000													11	21					0	0	0.008291	0	0
FOXN1	8456	broad.mit.edu	37	17	26861510	26861510	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:26861510G>A	ENST00000226247.2	+	6	1118	c.1089G>A	c.(1087-1089)tgG>tgA	p.W363*	FOXN1_ENST00000579795.1_Nonsense_Mutation_p.W363*	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	363					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					TGCAAAAATGGAAGAGGAAAG	0.567000													12	36					0	0	0.001368	0	0
CSMD2	114784	broad.mit.edu	37	1	34037281	34037281	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:34037281C>T	ENST00000373381.4	-	51	7984	c.7808G>A	c.(7807-7809)cGa>cAa	p.R2603Q		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2605	Sushi 16.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AAGCCTCCATCGGCCATGCTC	0.483000													27	33					0	0	0.008361	0	0
MED12	9968	broad.mit.edu	37	X	70352255	70352255	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:70352255G>A	ENST00000333646.6	+	31	4481	c.4282G>A	c.(4282-4284)Gtg>Atg	p.V1428M	MED12_ENST00000374102.1_Missense_Mutation_p.V1428M|MED12_ENST00000478889.1_Intron|MED12_ENST00000374080.3_Missense_Mutation_p.V1428M	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1428					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TGTATGGCTGGTGGCCCCCCT	0.562000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						16	37					0	0	0.008871	0	0
MYLK3	91807	broad.mit.edu	37	16	46782006	46782006	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr16:46782006C>T	ENST00000394809.4	-	1	215	c.100G>A	c.(100-102)Gag>Aag	p.E34K	MYLK3_ENST00000536476.1_Intron	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	34					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TCCACCTTCTCGTTCAGCATG	0.577000													39	61					0	0	0.003214	0	0
FRMD7	90167	broad.mit.edu	37	X	131212337	131212337	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:131212337C>T	ENST00000298542.4	-	12	1883	c.1708G>A	c.(1708-1710)Gaa>Aaa	p.E570K	FRMD7_ENST00000464296.1_Missense_Mutation_p.E555K|FRMD7_ENST00000370879.1_Missense_Mutation_p.E450K	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	570					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					TTTGGGTCTTCCTCTTCTAGA	0.418000													83	75					0	0	0.003610	0	0
LAMA3	3909	broad.mit.edu	37	18	21396405	21396405	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr18:21396405G>A	ENST00000313654.9	+	18	2342	c.2101G>A	c.(2101-2103)Gga>Aga	p.G701R	LAMA3_ENST00000399516.3_Missense_Mutation_p.G701R	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	701	Domain V.|Laminin EGF-like 8.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGGGCCCTCGGGAGTGTGCCA	0.547000													22	25					0	0	0.002780	0	0
MSH6	2956	broad.mit.edu	37	2	48027152	48027152	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:48027152G>T	ENST00000234420.4	+	4	2182	c.2030G>T	c.(2029-2031)aGt>aTt	p.S677I	MSH6_ENST00000540021.1_Missense_Mutation_p.S547I|MSH6_ENST00000538136.1_Missense_Mutation_p.S375I|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	677					determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GGAGAGAAAAGTGAATTGGCC	0.418000			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				37	122					4.11147e-13	7.23816e-13	0.003755	1	0
BRD2	6046	broad.mit.edu	37	6	32944456	32944456	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr6:32944456C>T	ENST00000395289.2	+	7	2544	c.943C>T	c.(943-945)Cct>Tct	p.P315S	BRD2_ENST00000374831.4_Missense_Mutation_p.P315S|BRD2_ENST00000395287.1_Missense_Mutation_p.P315S|BRD2_ENST00000449085.2_Missense_Mutation_p.P268S|BRD2_ENST00000374825.4_Missense_Mutation_p.P315S|BRD2_ENST00000443797.2_Missense_Mutation_p.P195S			P25440	BRD2_HUMAN	bromodomain containing 2	315					spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						ACGGCTTCCCCCTATGCGTAG	0.552000													12	94					0	0	0.003163	0	0
MTIF2	4528	broad.mit.edu	37	2	55467227	55467227	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:55467227T>A	ENST00000394600.3	-	15	2526	c.1790A>T	c.(1789-1791)aAa>aTa	p.K597I	MTIF2_ENST00000263629.4_Missense_Mutation_p.K597I|MTIF2_ENST00000403721.1_Missense_Mutation_p.K597I	NM_001005369.1	NP_001005369.1	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	597					regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						GTAAATTATTTTGTGAAGTTT	0.383000													8	19					0	0	0.003080	0	0
FAM86FP	653113	broad.mit.edu	37	12	8386955	8386955	+	RNA	SNP	T	T	C	rs75997195		TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr12:8386955T>C	ENST00000427893.2	-	0	811																											CTTGTGCTCCTGGCAGGCAGC	0.612000													7	64					0	0	0.003080	0	0
RIN3	79890	broad.mit.edu	37	14	93154591	93154591	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr14:93154591C>T	ENST00000216487.7	+	10	3111	c.2952C>T	c.(2950-2952)ttC>ttT	p.F984F	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	984					endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				AGCCCAACTTCCTGTGAGGCC	0.751000													11	12					0	0	0.001368	0	0
LRRC7	57554	broad.mit.edu	37	1	70541893	70541893	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:70541893C>T	ENST00000310961.5	+	24	4542	c.4124C>T	c.(4123-4125)cCc>cTc	p.P1375L	LRRC7_ENST00000035383.5_Missense_Mutation_p.P1417L|LRRC7_ENST00000415775.2_Missense_Mutation_p.P701L			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1417						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ATTCAGATCCCCTCTTCACAG	0.502000													35	46					0	0	0.004878	0	0
LSM6	11157	broad.mit.edu	37	4	147108513	147108513	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr4:147108513G>A	ENST00000502781.1	+	3	901	c.182G>A	c.(181-183)gGg>gAg	p.G61E	LSM6_ENST00000296581.5_Missense_Mutation_p.G61E			P62312	LSM6_HUMAN	LSM6 homolog, U6 small nuclear RNA associated (S. cerevisiae)	61					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|mRNA processing|RNA splicing|rRNA processing|tRNA processing	cytosol|small nuclear ribonucleoprotein complex	protein binding|RNA binding					all_hematologic(180;0.151)					AATAAGTATGGGGATGCATTT	0.413000													8	22					0	0	0.003080	0	0
SHROOM3	57619	broad.mit.edu	37	4	77660588	77660588	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr4:77660588G>A	ENST00000296043.6	+	5	2215	c.1262G>A	c.(1261-1263)gGc>gAc	p.G421D		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	421					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			AACTCTTTAGGCTCCCTGAAG	0.562000													11	28					0	0	0.000978	0	0
SUGP1	57794	broad.mit.edu	37	19	19408023	19408023	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:19408023G>A	ENST00000247001.5	-	8	1365	c.1018C>T	c.(1018-1020)Cct>Tct	p.P340S	SUGP1_ENST00000585763.1_5'UTR	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	340	Pro-rich.				nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						AGGGCCTCAGGAGGGGACTTG	0.657000													54	52					0	0	0.003610	0	0
KIAA1211L	343990	broad.mit.edu	37	2	99448906	99448906	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:99448906C>T	ENST00000397899.2	-	5	776	c.445G>A	c.(445-447)Gag>Aag	p.E149K	KIAA1211L_ENST00000462314.1_5'UTR	NM_207362.2	NP_997245.2			KIAA1211-like																		CCGGCATCCTCTCCCCGCTTG	0.552000													58	39					0	0	0.003610	0	0
TUBA3D	113457	broad.mit.edu	37	2	132235797	132235797	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:132235797G>A	ENST00000321253.6	+	2	171	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K		NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	22					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		TGCCTGCTGGGAACTGTACTG	0.512000													65	70					0	0	0.003610	0	0
MYH14	79784	broad.mit.edu	37	19	50775127	50775127	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:50775127C>T	ENST00000440075.2	+	26	3240	c.3193C>T	c.(3193-3195)Cgt>Tgt	p.R1065C	MYH14_ENST00000376970.2_Missense_Mutation_p.R1057C|MYH14_ENST00000601313.1_Missense_Mutation_p.R1065C|MYH14_ENST00000598205.1_Missense_Mutation_p.R1032C|MYH14_ENST00000596571.1_Missense_Mutation_p.R1024C|MYH14_ENST00000425460.1_Missense_Mutation_p.R1032C|MYH14_ENST00000262269.8_Missense_Mutation_p.R1065C			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1024					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GCTGGAAGATCGTCTGGCCGA	0.582000													4	17					0	0	0.000602	0	0
IGHV5-51	28388	broad.mit.edu	37	14	107034897	107034897	+	RNA	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr14:107034897C>T	ENST00000390626.2	-	0	241																											CCAGGCCTTTCCCGGGCATCT	0.562000													28	14					0	0	0.005443	0	0
GPR112	139378	broad.mit.edu	37	X	135432543	135432543	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:135432543C>T	ENST00000394143.1	+	6	6969	c.6678C>T	c.(6676-6678)tcC>tcT	p.S2226S	GPR112_ENST00000412101.1_Silent_p.S2021S|GPR112_ENST00000370652.1_Silent_p.S2226S|GPR112_ENST00000287534.4_Silent_p.S2163S|GPR112_ENST00000394141.1_Silent_p.S2021S	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2226					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CCACACCTTCCTTTCTATCTA	0.463000													24	85					0	0	0.003330	0	0
CTCFL	140690	broad.mit.edu	37	20	56078638	56078638	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr20:56078638G>A	ENST00000429804.2	-	9	2104	c.1544C>T	c.(1543-1545)tCg>tTg	p.S515L	CTCFL_ENST00000423479.2_Missense_Mutation_p.S565L|CTCFL_ENST00000371196.2_Missense_Mutation_p.S565L|CTCFL_ENST00000433949.2_Missense_Mutation_p.S565L|CTCFL_ENST00000426658.2_3'UTR|CTCFL_ENST00000243914.3_Missense_Mutation_p.S565L|CTCFL_ENST00000422109.2_3'UTR|CTCFL_ENST00000502686.2_Missense_Mutation_p.S303L	NM_001269046.1	NP_001255975.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	565					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			ACACTTCTCCGAATGTCTGTG	0.547000													22	62					0	0	0.003954	0	0
BRSK2	9024	broad.mit.edu	37	11	1471927	1471927	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr11:1471927C>T	ENST00000308219.9	+	14	1784	c.1398C>T	c.(1396-1398)tcC>tcT	p.S466S	BRSK2_ENST00000528841.1_Silent_p.S466S|BRSK2_ENST00000531197.1_Silent_p.S466S|BRSK2_ENST00000526678.1_Silent_p.S488S|BRSK2_ENST00000528710.1_Silent_p.S406S|BRSK2_ENST00000382179.1_Silent_p.S512S|BRSK2_ENST00000308230.5_Silent_p.S488S|BRSK2_ENST00000544817.1_Silent_p.S161S	NM_001256627.1|NM_003957.3	NP_001243556.1|NP_003948.2	Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	466	Pro-rich.				establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		CGCCCCCGTCCAGCCCCAGCG	0.692000													4	23					0	0	0.000602	0	0
RAD17	5884	broad.mit.edu	37	5	68677755	68677755	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr5:68677755C>T	ENST00000509734.1	+	6	1090	c.412C>T	c.(412-414)Cct>Tct	p.P138S	RAD17_ENST00000504177.1_Intron|RAD17_ENST00000521422.1_5'UTR|RAD17_ENST00000282891.6_Missense_Mutation_p.P41S|RAD17_ENST00000361732.2_Missense_Mutation_p.P127S|RAD17_ENST00000305138.4_Missense_Mutation_p.P127S|RAD17_ENST00000354312.3_Missense_Mutation_p.P127S|RAD17_ENST00000358030.2_5'UTR|RAD17_ENST00000380774.3_Missense_Mutation_p.P138S|RAD17_ENST00000345306.6_Missense_Mutation_p.P127S|RAD17_ENST00000354868.5_Missense_Mutation_p.P127S			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	138					cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		AATAACAGGTCCTCCTGGATG	0.318000								Other conserved DNA damage response genes					7	28					0	0	0.004482	0	0
KCNB1	3745	broad.mit.edu	37	20	47990052	47990052	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr20:47990052C>T	ENST00000371741.4	-	2	2211	c.2045G>A	c.(2044-2046)aGt>aAt	p.S682N		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	682					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GAGGAGTGGACTGGGGTCACC	0.547000													15	53					0	0	0.004990	0	0
MFI2	4241	broad.mit.edu	37	3	196737653	196737653	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr3:196737653C>T	ENST00000296350.5	-	10	1359	c.1246G>A	c.(1246-1248)Gac>Aac	p.D416N		NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	416	Transferrin-like 2.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		GTCACAGCGTCGACCTGCTCA	0.662000													18	42					0	0	0.008871	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110460435	110460435	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr8:110460435C>T	ENST00000378402.5	+	39	5944	c.5840C>T	c.(5839-5841)tCc>tTc	p.S1947F		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1947	IPT/TIG 12.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTGGAAATCTCCGTGATGATA	0.393000										HNSCC(38;0.096)			7	20					0	0	0.003080	0	0
SALL1	6299	broad.mit.edu	37	16	51171098	51171098	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr16:51171098C>T	ENST00000440970.1	-	3	4040	c.3609G>A	c.(3607-3609)atG>atA	p.M1203I	SALL1_ENST00000541611.1_Missense_Mutation_p.M123I|SALL1_ENST00000251020.4_Missense_Mutation_p.M1300I|SALL1_ENST00000566102.1_3'UTR	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1300					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CACTGCTTGCCATTTTCTCCA	0.582000													21	51					0	0	0.002299	0	0
ENTPD4	9583	broad.mit.edu	37	8	23294584	23294584	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr8:23294584G>A	ENST00000358689.4	-	10	1472	c.1237C>T	c.(1237-1239)Ctc>Ttc	p.L413F	ENTPD4_ENST00000417069.2_Missense_Mutation_p.L405F|ENTPD4_ENST00000356206.6_Missense_Mutation_p.L405F	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	413					UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		ACCCCATTGAGGGAAGTCTGG	0.478000													50	56					0	0	0.003610	0	0
RGS9	8787	broad.mit.edu	37	17	63156360	63156360	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:63156360A>G	ENST00000449996.3	+	4	287	c.215A>G	c.(214-216)aAc>aGc	p.N72S	RGS9_ENST00000443584.3_Missense_Mutation_p.N72S|RGS9_ENST00000577186.1_3'UTR|RGS9_ENST00000262406.9_Missense_Mutation_p.N72S	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	72	DEP.				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						GAGGCACAGAACTTGGGCAAC	0.527000													48	37					0	0	0.003610	0	0
DGKG	1608	broad.mit.edu	37	3	185969598	185969598	+	Missense_Mutation	SNP	C	C	T	rs79928844		TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr3:185969598C>T	ENST00000265022.3	-	19	2250	c.1711G>A	c.(1711-1713)Ggg>Agg	p.G571R	DGKG_ENST00000382164.4_Missense_Mutation_p.G532R|DGKG_ENST00000544847.1_Missense_Mutation_p.G512R|DGKG_ENST00000344484.4_Missense_Mutation_p.G546R	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	571					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	ACCTGGTCCCCGTTTTCCACT	0.507000													25	76					0	0	0.005443	0	0
PKN3	29941	broad.mit.edu	37	9	131476863	131476863	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr9:131476863C>T	ENST00000291906.4	+	12	1897	c.1504C>T	c.(1504-1506)Ccc>Tcc	p.P502S		NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	502	Pro-rich.				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						CAAGAAGACCCCCTTGGGTGA	0.597000													36	50					0	0	0.004289	0	0
GRAMD1A	57655	broad.mit.edu	37	19	35512625	35512625	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:35512625C>T	ENST00000599564.1	+	16	1942	c.1871C>T	c.(1870-1872)tCt>tTt	p.S624F	GRAMD1A_ENST00000317991.5_Missense_Mutation_p.S537F|GRAMD1A_ENST00000504615.2_Missense_Mutation_p.S303F|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.S530F|CTD-2527I21.14_ENST00000605640.1_RNA			Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	537						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GAGAAGCTGTCTCTGGAGGAA	0.697000													32	45					0	0	0.003755	0	0
STAB1	23166	broad.mit.edu	37	3	52542315	52542315	+	Silent	SNP	C	C	T	rs148343623	by1000genomes	TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr3:52542315C>T	ENST00000321725.6	+	21	2251	c.2175C>T	c.(2173-2175)ttC>ttT	p.F725F		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	725					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		AAGGTTTTTTCGGGCCTGACT	0.587000													19	66					0	0	0.008871	0	0
GAA	2548	broad.mit.edu	37	17	78078786	78078786	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:78078786C>T	ENST00000302262.3	+	2	620	c.401C>T	c.(400-402)cCc>cTc	p.P134L	GAA_ENST00000390015.3_Missense_Mutation_p.P134L	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	134					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	CCCAGCTACCCCAGCTACAAG	0.632000													5	19					0	0	0.000602	0	0
PLVAP	83483	broad.mit.edu	37	19	17476972	17476972	+	Silent	SNP	A	A	G			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:17476972A>G	ENST00000252590.4	-	2	463	c.402T>C	c.(400-402)gcT>gcC	p.A134A		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	134						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGATGATGGCAGCCATGTACC	0.552000													52	143					0	0	0.003610	0	0
PRRT2	112476	broad.mit.edu	37	16	29825857	29825857	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr16:29825857C>T	ENST00000567659.1	+	3	1281	c.1083C>T	c.(1081-1083)gcC>gcT	p.A361A	PRRT2_ENST00000358758.7_Intron|AC009133.20_ENST00000569039.1_RNA|PRRT2_ENST00000300797.6_3'UTR			Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2	76					response to biotic stimulus	integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						TAACCCCTGcccctgctctct	0.587000													9	22					0	0	0.004482	0	0
IL6R	3570	broad.mit.edu	37	1	154408531	154408531	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:154408531C>T	ENST00000368485.3	+	6	1331	c.894C>T	c.(892-894)ttC>ttT	p.F298F	IL6R_ENST00000507256.1_Intron|IL6R_ENST00000344086.4_Silent_p.F298F	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	298	Fibronectin type-III.				acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity		IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGGAGGAGTTCGGGCAAGGCG	0.642000													18	91					0	0	0.008871	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6064047	6064047	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr4:6064047C>T	ENST00000409021.3	-	10	2001	c.1552G>A	c.(1552-1554)Gag>Aag	p.E518K	JAKMIP1_ENST00000409371.3_Missense_Mutation_p.E333K|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.E353K|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.E518K|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.E518K	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	518	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACCCGGGCCTCCCTCTCAGCG	0.662000													27	36					0	0	0.006320	0	0
ALDOB	229	broad.mit.edu	37	9	104192064	104192064	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr9:104192064C>T	ENST00000374855.4	-	3	421	c.297G>A	c.(295-297)aaG>aaA	p.K99K	ALDOB_ENST00000468981.2_Intron	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	99					fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding	p.K99K(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				TCCCCTTTTCCTTGAGGATGT	0.527000													127	183					0	0	0.003610	0	0
SRCAP	10847	broad.mit.edu	37	16	30740755	30740755	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr16:30740755C>T	ENST00000262518.4	+	27	6374	c.5989C>T	c.(5989-5991)Cct>Tct	p.P1997S	SRCAP_ENST00000395059.2_Missense_Mutation_p.P1935S|SRCAP_ENST00000344771.4_Missense_Mutation_p.P1839S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1997					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CCACCCACCTCCTTGGCTGGC	0.592000													33	40					0	0	0.001786	0	0
CDK5R2	8941	broad.mit.edu	37	2	219825520	219825520	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:219825520G>A	ENST00000302625.4	+	1	1144	c.978G>A	c.(976-978)aaG>aaA	p.K326K	AC097468.7_ENST00000429343.1_RNA	NM_003936.4	NP_003927.1	Q13319	CD5R2_HUMAN	cyclin-dependent kinase 5, regulatory subunit 2 (p39)	326					regulation of cyclin-dependent protein kinase activity	cyclin-dependent protein kinase 5 holoenzyme complex	cyclin-dependent protein kinase 5 activator activity			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	8		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAGACCTCAAGAACGAGGGCG	0.736000													20	17					0	0	0.007413	0	0
COL5A3	50509	broad.mit.edu	37	19	10107173	10107173	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:10107173G>A	ENST00000264828.3	-	13	1443	c.1358C>T	c.(1357-1359)tCc>tTc	p.S453F	CTD-2553C6.1_ENST00000592332.1_RNA	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	453	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GCCTTTAAAGGAGCCGCCTGC	0.617000													8	31					0	0	0.003080	0	0
CMTR1	23070	broad.mit.edu	37	6	37438796	37438796	+	Splice_Site	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr6:37438796G>A	ENST00000373451.4	+	14	1669		c.e14-1			NM_015050.2	NP_055865.1	Q8N1G2	MTR1_HUMAN							mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						TTTTCTTCTAGCCACTGTAGT	0.413000													11	51					0	0	0.000978	0	0
HSD17B11	51170	broad.mit.edu	37	4	88258508	88258508	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr4:88258508C>T	ENST00000358290.4	-	7	1138	c.823G>A	c.(823-825)Gag>Aag	p.E275K	RP11-529H2.2_ENST00000508163.1_RNA|HSD17B11_ENST00000507286.1_Missense_Mutation_p.E231K|HSD17B11_ENST00000507518.1_5'UTR	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11	275					androgen catabolic process|steroid biosynthetic process	cytoplasm|extracellular region	binding|estradiol 17-beta-dehydrogenase activity			cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		AGGAAACGCTCAGGAAGGATC	0.294000													14	27					0	0	0.003163	0	0
HMCN1	83872	broad.mit.edu	37	1	186088327	186088327	+	Silent	SNP	A	A	G			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:186088327A>G	ENST00000271588.4	+	78	12082	c.11853A>G	c.(11851-11853)gcA>gcG	p.A3951A	HMCN1_ENST00000367492.2_Silent_p.A3951A	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3951	Ig-like C2-type 38.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTTTAGGAGCAATTGAAATAC	0.368000													30	103					0	0	0.007291	0	0
SRCIN1	80725	broad.mit.edu	37	17	36720422	36720422	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:36720422C>T	ENST00000264659.7	-	4	697	c.473G>A	c.(472-474)aGg>aAg	p.R158K	SRCIN1_ENST00000578925.1_Missense_Mutation_p.R192K|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	0					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						GCGGTTCATCCTGCTGAAGCC	0.701000													3	7					0	0	0.004672	0	0
NWD1	284434	broad.mit.edu	37	19	16899909	16899909	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:16899909G>A	ENST00000524140.2	+	13	3266	c.2848G>A	c.(2848-2850)Gat>Aat	p.D950N	NWD1_ENST00000552788.1_Missense_Mutation_p.D950N|NWD1_ENST00000339803.6_Missense_Mutation_p.D815N|NWD1_ENST00000549814.1_Missense_Mutation_p.D950N|NWD1_ENST00000523826.1_Missense_Mutation_p.D744N|NWD1_ENST00000379808.3_Missense_Mutation_p.D950N	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	950							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TACCATTTGGGATGGAGGCTC	0.458000													26	51					0	0	0.003330	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45458870	45458870	+	RNA	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr12:45458870C>T	ENST00000548424.1	+	0	448																											CGCAGTTAGCCTCAGCTCTCC	0.458000													6	7					0	0	0.001984	0	0
PIH1D3	139212	broad.mit.edu	37	X	106466001	106466001	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:106466001T>A	ENST00000535523.1	+	6	696	c.359T>A	c.(358-360)gTg>gAg	p.V120E	PIH1D3_ENST00000336387.4_Missense_Mutation_p.V120E|PIH1D3_ENST00000372453.3_Missense_Mutation_p.V120E	NM_001169154.1	NP_001162625.1			PIH1 domain containing 3																		AGACAGCAGGTGGGAACTGAA	0.378000													25	109					0	0	0.008361	0	0
CEP290	80184	broad.mit.edu	37	12	88462406	88462406	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr12:88462406G>A	ENST00000552810.1	-	44	6371	c.6028C>T	c.(6028-6030)Cct>Tct	p.P2010S	CEP290_ENST00000309041.7_Missense_Mutation_p.P2012S|CEP290_ENST00000397838.3_Missense_Mutation_p.P1070S|CEP290_ENST00000547691.2_Missense_Mutation_p.P1070S	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	2010					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						GAATCTCGAGGAAGAGCTTGG	0.303000													50	39					0	0	0.003610	0	0
CYTH2	9266	broad.mit.edu	37	19	48977503	48977503	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:48977503C>T	ENST00000427476.1	+	7	912	c.612C>T	c.(610-612)gtC>gtT	p.V204V	CYTH2_ENST00000452733.2_Silent_p.V204V	NM_004228.6|NM_017457.5	NP_004219.3|NP_059431.1	Q99418	CYH2_HUMAN	cytohesin 2	204					actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						ATCCCAATGTCCGGGACAAGC	0.637000													36	50					0	0	0.006230	0	0
DNAH1	25981	broad.mit.edu	37	3	52434413	52434413	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr3:52434413G>A	ENST00000420323.2	+	78	13010	c.12749G>A	c.(12748-12750)cGa>cAa	p.R4250Q		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	4315					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAGCCCCAGCGACACTGGATA	0.537000													61	62					0	0	0.003610	0	0
TNXB	7148	broad.mit.edu	37	6	32049836	32049836	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr6:32049836G>A	ENST00000375244.3	-	9	3914	c.3713C>T	c.(3712-3714)cCc>cTc	p.P1238L	TNXB_ENST00000375247.2_Missense_Mutation_p.P1238L			P22105	TENX_HUMAN	tenascin XB	1325					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGCCGTGAGGGGGCCATACCG	0.572000													160	243					0	0	0.003610	0	0
PCLO	27445	broad.mit.edu	37	7	82580169	82580169	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr7:82580169G>A	ENST00000423517.2	-	6	10072	c.9735C>T	c.(9733-9735)ttC>ttT	p.F3245F	PCLO_ENST00000333891.8_Silent_p.F3245F	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3176	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTTGTTCTCGGAACCTTTGAA	0.473000													67	43					0	0	0.003610	0	0
ZNF544	27300	broad.mit.edu	37	19	58772460	58772460	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:58772460G>A	ENST00000269829.4	+	7	962	c.488G>A	c.(487-489)gGa>gAa	p.G163E	ZNF544_ENST00000596929.1_Intron|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000599953.1_Missense_Mutation_p.G21E|ZNF544_ENST00000415203.2_Missense_Mutation_p.G135E|ZNF544_ENST00000595981.1_Intron|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000600044.1_Missense_Mutation_p.G135E|ZNF544_ENST00000600220.1_Missense_Mutation_p.G135E|ZNF544_ENST00000596652.1_Missense_Mutation_p.G163E|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000596825.1_3'UTR	NM_014480.2	NP_055295.2	Q6NX49	ZN544_HUMAN	zinc finger protein 544	163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		GAACTTGGGGGAGGTTATTCT	0.433000													10	49					0	0	0.000978	0	0
EEF2	1938	broad.mit.edu	37	19	3982420	3982420	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:3982420G>A	ENST00000309311.6	-	5	703	c.615C>T	c.(613-615)atC>atT	p.I205I		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	205						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		GGACAGGATCGATCTGGAAGT	0.632000													41	48					0	0	0.002222	0	0
BEND4	389206	broad.mit.edu	37	4	42122147	42122147	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr4:42122147C>T	ENST00000502486.1	-	5	1890	c.1311G>A	c.(1309-1311)agG>agA	p.R437R	BEND4_ENST00000504360.1_Silent_p.R433R	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	437	BEN.									NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						CTGACCTTTTCCTTTTCCCAA	0.483000													10	21					0	0	0.001855	0	0
CSMD1	64478	broad.mit.edu	37	8	3245065	3245065	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr8:3245065G>A	ENST00000520002.1	-	19	3291	c.2736C>T	c.(2734-2736)ctC>ctT	p.L912L	CSMD1_ENST00000400186.3_Silent_p.L912L|CSMD1_ENST00000602557.1_Silent_p.L912L|CSMD1_ENST00000542608.1_Silent_p.L911L|CSMD1_ENST00000539096.1_Silent_p.L911L|CSMD1_ENST00000537824.1_Silent_p.L911L|CSMD1_ENST00000602723.1_Silent_p.L912L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	912	Sushi 5.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCTCACAGACGAGGGGCTCGT	0.602000													10	4					0	0	0.006214	0	0
ZNF749	388567	broad.mit.edu	37	19	57956043	57956043	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:57956043G>A	ENST00000334181.4	+	3	1777	c.1527G>A	c.(1525-1527)cgG>cgA	p.R509R	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	509					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		CTGGAGAACGGCCTTATGAAT	0.458000													43	34					0	0	0.002522	0	0
SLC22A16	85413	broad.mit.edu	37	6	110768188	110768188	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr6:110768188C>T	ENST00000368919.3	-	3	605	c.539G>A	c.(538-540)gGa>gAa	p.G180E	SLC22A16_ENST00000439654.1_Missense_Mutation_p.G180E|SLC22A16_ENST00000456137.2_3'UTR|SLC22A16_ENST00000330550.4_Missense_Mutation_p.G146E	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	180					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		CACCCGGCGTCCTAGCCTGAA	0.433000													28	45					0	0	0.008361	0	0
UGT8	7368	broad.mit.edu	37	4	115586899	115586899	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr4:115586899A>T	ENST00000310836.6	+	4	1551	c.1029A>T	c.(1027-1029)caA>caT	p.Q343H	UGT8_ENST00000394511.3_Missense_Mutation_p.Q343H	NM_001128174.1	NP_001121646.1	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	343					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		GGTTACCACAAAATGACCTGC	0.323000													16	27					0	0	0.004990	0	0
NPIPA1	9284	broad.mit.edu	37	16	15045785	15045785	+	Nonsense_Mutation	SNP	C	C	G			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr16:15045785C>G	ENST00000328085.6	+	8	956	c.956C>G	c.(955-957)tCa>tGa	p.S319*	NPIPA1_ENST00000472413.1_3'UTR	NM_006985.2	NP_008916.2			nuclear pore complex interacting protein family, member A1																		CTTCCACCCTCAGCTCCACCC	0.542000													18	81					0	0	0.001523	0	0
LILRA3	11026	broad.mit.edu	37	19	54803632	54803632	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:54803632C>T	ENST00000391745.1	-	7	559	c.243G>A	c.(241-243)aaG>aaA	p.K81K	LILRA3_ENST00000391744.3_Silent_p.K64K|LILRA3_ENST00000251390.3_Silent_p.K64K					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTGCTGTTTTCTTTTCTCTAT	0.547000													58	53					0	0	0.003610	0	0
ITSN1	6453	broad.mit.edu	37	21	35169762	35169762	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr21:35169762G>A	ENST00000381318.3	+	18	2320	c.2032G>A	c.(2032-2034)Gaa>Aaa	p.E678K	ITSN1_ENST00000437442.2_Missense_Mutation_p.E678K|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399349.1_Missense_Mutation_p.E678K|ITSN1_ENST00000399352.1_Missense_Mutation_p.E678K|ITSN1_ENST00000399353.1_Missense_Mutation_p.E641K|ITSN1_ENST00000399355.2_Missense_Mutation_p.E678K|ITSN1_ENST00000399326.3_Missense_Mutation_p.E678K|ITSN1_ENST00000399367.3_Missense_Mutation_p.E678K|ITSN1_ENST00000399338.4_Missense_Mutation_p.E678K|ITSN1_ENST00000381285.4_Missense_Mutation_p.E678K|ITSN1_ENST00000381291.4_Missense_Mutation_p.E678K|ITSN1_ENST00000379960.5_Missense_Mutation_p.E678K	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	678	KLERQ.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AAAACTCCACGAAGAGGAAAA	0.502000													50	83					0	0	0.003610	0	0
ZNF99	7652	broad.mit.edu	37	19	22939518	22939518	+	Missense_Mutation	SNP	C	C	T	rs74170737		TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:22939518C>T	ENST00000397104.3	-	7	2652	c.2653G>A	c.(2653-2655)Gag>Aag	p.E885K						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TACGGTTTCTCCCCAGTATGA	0.348000													14	41					0	0	0.002450	0	0
ZFR2	23217	broad.mit.edu	37	19	3834962	3834962	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:3834962G>A	ENST00000262961.4	-	2	83	c.73C>T	c.(73-75)Ccc>Tcc	p.P25S	ZFR2_ENST00000591965.1_5'UTR	NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	25						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		GTGGGCAGGGGAAGGGTCGGA	0.627000													5	17					0	0	0.000602	0	0
RANBP9	10048	broad.mit.edu	37	6	13644842	13644842	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr6:13644842G>A	ENST00000011619.3	-	6	1105	c.1047C>T	c.(1045-1047)atC>atT	p.I349I	RANBP9_ENST00000539980.1_Silent_p.I120I	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	349					axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			TCTGTGCCTGGATTTTGGTTC	0.428000													26	114					0	0	0.004656	0	0
EHD3	30845	broad.mit.edu	37	2	31457696	31457696	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:31457696G>A	ENST00000322054.5	+	1	494	c.209G>A	c.(208-210)gGg>gAg	p.G70E	EHD3_ENST00000541626.1_Missense_Mutation_p.G70E	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	70					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					TACTCCACTGGGAAGACCACC	0.642000													30	22					0	0	0.002096	0	0
COL9A3	1299	broad.mit.edu	37	20	61449889	61449889	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr20:61449889G>A	ENST00000343916.3	+	3	170	c.167G>A	c.(166-168)gGt>gAt	p.G56D		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	56	Triple-helical region 3 (COL3).				axon guidance	collagen type IX				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					GGTCCTCCAGGTCTGCCTGGG	0.582000													26	91					0	0	0.003954	0	0
AMOT	154796	broad.mit.edu	37	X	112048315	112048315	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:112048315C>T	ENST00000371959.3	-	5	1635	c.1636G>A	c.(1636-1638)Gaa>Aaa	p.E546K	AMOT_ENST00000304758.1_Missense_Mutation_p.E137K|AMOT_ENST00000524145.1_Missense_Mutation_p.E546K|AMOT_ENST00000371962.1_Missense_Mutation_p.E314K|AMOT_ENST00000371958.1_Missense_Mutation_p.E314K	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	546					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						CGCTGGCTTTCTTTATCTGTC	0.498000													56	138					0	0	0.003610	0	0
ADAM18	8749	broad.mit.edu	37	8	39467023	39467023	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr8:39467023G>A	ENST00000265707.5	+	5	332	c.287G>A	c.(286-288)gGa>gAa	p.G96E	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.G96E|ADAM18_ENST00000520772.1_Missense_Mutation_p.G96E	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	96					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CATTACCAAGGATATGCTGCC	0.328000													13	27					0	0	0.002450	0	0
ABHD4	63874	broad.mit.edu	37	14	23070653	23070653	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr14:23070653C>T	ENST00000428304.2	+	2	175	c.105C>T	c.(103-105)atC>atT	p.I35I	ABHD4_ENST00000544562.1_3'UTR	NM_022060.2	NP_071343.2	Q8TB40	ABHD4_HUMAN	abhydrolase domain containing 4	35					lipid catabolic process		hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1)	14	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0153)		AAGCCAGGATCCTCCAGTGTA	0.562000													15	40					0	0	0.004007	0	0
TSIX	9383	broad.mit.edu	37	X	73043903	73043903	+	RNA	SNP	T	T	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:73043903T>A	ENST00000604411.1	+	0	31864				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						AGGATAAGAGTAATCAATGAT	0.323000													5	29					0	0	0.001168	0	0
HIPK4	147746	broad.mit.edu	37	19	40886829	40886829	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:40886829C>T	ENST00000291823.2	-	3	1353	c.1069G>A	c.(1069-1071)Gag>Aag	p.E357K		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	357						cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			TGGGTGGTCTCGTGGGCACTG	0.662000													32	74					0	0	0.002836	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232650407	232650407	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:232650407G>A	ENST00000366630.1	-	2	1037	c.679C>T	c.(679-681)Cct>Tct	p.P227S	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.P227S			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	227					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AACCCAAAAGGGACCATTGCT	0.468000													32	155					0	0	0.001786	0	0
LAMP5	24141	broad.mit.edu	37	20	9498791	9498791	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr20:9498791G>A	ENST00000246070.2	+	5	1072	c.580G>A	c.(580-582)Gat>Aat	p.D194N	LAMP5_ENST00000427562.2_Missense_Mutation_p.D150N	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN	lysosomal-associated membrane protein family, member 5	194						integral to membrane											GGCCTCTAGTGATCCGCAGAA	0.512000													18	43					0	0	0.004990	0	0
STXBP5L	9515	broad.mit.edu	37	3	120628589	120628589	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr3:120628589C>T	ENST00000273666.6	+	2	435	c.164C>T	c.(163-165)aCt>aTt	p.T55I	STXBP5L_ENST00000472879.1_Missense_Mutation_p.T55I|STXBP5L_ENST00000492541.1_Missense_Mutation_p.T55I|STXBP5L_ENST00000471454.1_Missense_Mutation_p.T55I|STXBP5L_ENST00000497029.1_Missense_Mutation_p.T55I	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	55					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GAAACTTTGACTTCGGAGTAT	0.448000													6	35					0	0	0.003080	0	0
IFITM3	10410	broad.mit.edu	37	11	320606	320606	+	Missense_Mutation	SNP	G	G	T	rs149004156	by1000genomes	TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr11:320606G>T	ENST00000399808.4	-	1	444	c.208C>A	c.(208-210)Ccc>Acc	p.P70T	IFITM3_ENST00000526811.1_Missense_Mutation_p.P49T|IFITM3_ENST00000602735.1_Missense_Mutation_p.P49T|RP11-326C3.11_ENST00000602429.1_RNA|RP11-326C3.11_ENST00000602756.1_RNA	NM_021034.2	NP_066362.2	Q01628	IFM3_HUMAN	interferon induced transmembrane protein 3	70	Interaction with SPP1.				response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane		p.P70T(3)		central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		AGGCAGCAGGGGTTCATGAAG	0.632000													6	94					3.86212e-05	6.74867e-05	0.008291	1	0
GPA33	10223	broad.mit.edu	37	1	167032862	167032862	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:167032862C>T	ENST00000367868.3	-	4	871	c.528G>A	c.(526-528)aaG>aaA	p.K176K	GPA33_ENST00000527955.1_5'UTR	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	176	Ig-like C2-type.					integral to plasma membrane	receptor activity			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TGTTGTACCTCTTCCAGCTGT	0.572000													14	109					0	0	0.003163	0	0
SVOPL	136306	broad.mit.edu	37	7	138312160	138312160	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr7:138312160C>T	ENST00000421622.1	-	8	964	c.756G>A	c.(754-756)ctG>ctA	p.L252L	SVOPL_ENST00000463557.1_5'UTR|SVOPL_ENST00000288513.5_Silent_p.L220L|SVOPL_ENST00000436657.1_Silent_p.L220L|SVOPL_ENST00000419765.3_Silent_p.L372L			Q8N434	SVOPL_HUMAN	SVOP-like	372						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						TAGAAAGGCTCAGCCGTCTTC	0.398000													7	21					0	0	0.004482	0	0
FPR3	2359	broad.mit.edu	37	19	52327535	52327535	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:52327535C>T	ENST00000339223.4	+	2	713	c.534C>T	c.(532-534)ttC>ttT	p.F178F	FPR3_ENST00000595991.1_Silent_p.F178F	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	178					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						ACTGTATTTTCAACTTTGCAT	0.433000													51	72					0	0	0.003610	0	0
MSRA	4482	broad.mit.edu	37	8	10285791	10285791	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr8:10285791G>A	ENST00000528246.1	+	7	1102	c.479G>A	c.(478-480)gGc>gAc	p.G160D	MSRA_ENST00000441698.2_Missense_Mutation_p.G186D|MSRA_ENST00000317173.4_Missense_Mutation_p.G226D|MSRA_ENST00000382490.5_Missense_Mutation_p.G183D	NM_001199729.1	NP_001186658.1	Q9UJ68	MSRA_HUMAN	methionine sulfoxide reductase A	226					methionine metabolic process|protein modification process|response to oxidative stress	mitochondrion|nucleus	peptide-methionine-(S)-S-oxide reductase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4)	8		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	GGGGGCACCGGCGTGTCCTGC	0.517000													33	30					0	0	0.003271	0	0
RCOR2	283248	broad.mit.edu	37	11	63680420	63680420	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr11:63680420C>T	ENST00000301459.4	-	9	1279		c.e9-1			NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						TGCTCTGTACCTGGGAAGGCC	0.582000													22	7					0	0	0.002299	0	0
PRLH	51052	broad.mit.edu	37	2	238475737	238475737	+	Silent	SNP	G	G	A	rs145946342	byFrequency	TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:238475737G>A	ENST00000165524.1	+	2	183	c.183G>A	c.(181-183)ggG>ggA	p.G61G		NM_015893.1	NP_056977.1	P81277	PRRP_HUMAN	prolactin releasing hormone	61						extracellular region				endometrium(1)|large_intestine(1)	2		Lung NSC(271;0.142)|all_lung(227;0.175)		Epithelial(121;8.28e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.03e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000329)|Lung(119;0.0106)|LUSC - Lung squamous cell carcinoma(224;0.0249)		CAACCCTGGGGGACGTCCCCA	0.647000													24	43					0	0	0.003954	0	0
CORO7	79585	broad.mit.edu	37	16	4463325	4463325	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr16:4463325G>A	ENST00000251166.4	-	2	286	c.141C>T	c.(139-141)ttC>ttT	p.F47F	CORO7_ENST00000537233.2_Silent_p.F47F|CORO7_ENST00000574025.1_Silent_p.F47F|CORO7_ENST00000577144.1_5'UTR|CORO7-PAM16_ENST00000572467.1_Silent_p.F47F|CORO7_ENST00000539968.1_5'UTR|CORO7_ENST00000423908.2_Intron	NM_024535.4	NP_078811.3			coronin 7											breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						GGTCGGAGTTGAAGGCGATCA	0.517000													9	5					0	0	0.004482	0	0
WRN	7486	broad.mit.edu	37	8	30916764	30916764	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr8:30916764C>T	ENST00000298139.5	+	3	441	c.192C>T	c.(190-192)ttC>ttT	p.F64F		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	64	3'-5' exonuclease.|Interaction with WRNIP1 (By similarity).				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		ATTGCTCTTTCCTGTCAGAAG	0.363000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				25	61					0	0	0.003954	0	0
KNDC1	85442	broad.mit.edu	37	10	134981777	134981777	+	Silent	SNP	C	C	T	rs79557483	byFrequency	TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr10:134981777C>T	ENST00000304613.3	+	3	342	c.321C>T	c.(319-321)ttC>ttT	p.F107F	KNDC1_ENST00000530127.1_3'UTR|KNDC1_ENST00000368571.2_Silent_p.F42F|KNDC1_ENST00000368572.2_Silent_p.F107F			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	107	KIND 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		AGGGTGCCTTCGTTCCCCCCG	0.597000													71	27					0	0	0.003610	0	0
KIF15	56992	broad.mit.edu	37	3	44867530	44867530	+	Splice_Site	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr3:44867530G>A	ENST00000326047.4	+	21	2698		c.e21-1		KIF15_ENST00000425755.1_Splice_Site	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15						blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		TCCTTATAAAGGTTAGAAAAC	0.318000													12	54					0	0	0.001855	0	0
STS	412	broad.mit.edu	37	X	7268099	7268099	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:7268099C>T	ENST00000217961.4	+	10	1769	c.1549C>T	c.(1549-1551)Cca>Tca	p.P517S		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	517					female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	CCCACTAACTCCAGCATCCGA	0.507000									Ichthyosis				25	55					0	0	0.002780	0	0
FAT3	120114	broad.mit.edu	37	11	92564905	92564905	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr11:92564905C>T	ENST00000298047.6	+	13	9616	c.9599C>T	c.(9598-9600)tCg>tTg	p.S3200L	FAT3_ENST00000409404.2_Missense_Mutation_p.S3200L|FAT3_ENST00000525166.1_Missense_Mutation_p.S3050L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3200	Cadherin 29.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CAGCAGTCTTCGTACAACATC	0.562000										TCGA Ovarian(4;0.039)			21	320					0	0	0.002780	0	0
SRPK1	6732	broad.mit.edu	37	6	35838101	35838101	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr6:35838101G>A	ENST00000373825.2	-	10	1233	c.948C>T	c.(946-948)ccC>ccT	p.P316P	SRPK1_ENST00000423325.2_Silent_p.P300P|SRPK1_ENST00000373822.1_Silent_p.P209P			Q96SB4	SRPK1_HUMAN	SRSF protein kinase 1	316	Protein kinase.				cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						TCTCTTTCAAGGGTCTTTCAA	0.383000													15	22					0	0	0.007413	0	0
FCER1A	2205	broad.mit.edu	37	1	159273949	159273949	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:159273949C>T	ENST00000368115.1	+	4	407	c.308C>T	c.(307-309)cCt>cTt	p.P103L	FCER1A_ENST00000368114.1_Missense_Mutation_p.P70L	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	103	Ig-like 1.					integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	GAGAGTGAACCTGTGTACCTG	0.393000													15	65					0	0	0.004990	0	0
BZRAP1	9256	broad.mit.edu	37	17	56386440	56386440	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:56386440C>T	ENST00000355701.3	-	22	5063	c.4193G>A	c.(4192-4194)gGa>gAa	p.G1398E	BZRAP1_ENST00000268893.6_Missense_Mutation_p.G1338E|BZRAP1_ENST00000343736.4_Missense_Mutation_p.G1398E	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1398						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACCAACTAATCCAGGCATGTC	0.647000													34	133					0	0	0.003271	0	0
NEBL	10529	broad.mit.edu	37	10	21120485	21120485	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr10:21120485C>T	ENST00000377122.4	-	15	1873	c.1477G>A	c.(1477-1479)Gaa>Aaa	p.E493K	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	493					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CCTTTAATTTCAGTCTCCAGA	0.423000													28	10					0	0	0.007291	0	0
FBN1	2200	broad.mit.edu	37	15	48807600	48807600	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr15:48807600G>A	ENST00000316623.5	-	12	1907	c.1452C>T	c.(1450-1452)ctC>ctT	p.L484L		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	484	EGF-like 6.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ACTCCCCACGGAGGTCCAGCT	0.502000													43	21					0	0	0.003610	0	0
FUT7	2529	broad.mit.edu	37	9	139925179	139925179	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr9:139925179C>T	ENST00000314412.6	-	2	2030	c.1012G>A	c.(1012-1014)Ggt>Agt	p.G338S	C9orf139_ENST00000314330.2_Intron	NM_004479.3	NP_004470.1	Q11130	FUT7_HUMAN	fucosyltransferase 7 (alpha (1,3) fucosyltransferase)	338					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|lung(4)|ovary(1)|skin(1)	8	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		TGAAACCAACCCTCAAGGTCC	0.627000													16	31					0	0	0.008871	0	0
TTN	7273	broad.mit.edu	37	2	179433686	179433686	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:179433686C>T	ENST00000589042.1	-	326	77397	c.77173G>A	c.(77173-77175)Gat>Aat	p.D25725N	TTN_ENST00000342175.6_Missense_Mutation_p.D16852N|TTN_ENST00000460472.2_Missense_Mutation_p.D16660N|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D23157N|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D16785N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D24084N|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24084							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)			CTGCCACCATCATGTTCAGGT	0.418000													87	91					0	0	0.003610	0	0
EEF1G	1937	broad.mit.edu	37	11	62327658	62327658	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr11:62327658G>A	ENST00000378019.3	-	9	1278	c.1188C>T	c.(1186-1188)ttC>ttT	p.F396F	EEF1G_ENST00000329251.4_Silent_p.F346F|MIR3654_ENST00000496634.2_3'UTR			P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1 gamma	346	EF-1-gamma C-terminal.				response to virus	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCAGTCGCTGGAACATTCCTG	0.512000													8	26					0	0	0.004482	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459496	107459496	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:107459496T>A	ENST00000409382.3	-	2	1548	c.938A>T	c.(937-939)gAa>gTa	p.E313V	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.E313V|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.E313V	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	313					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CCTACCTATTTCCTCGCCCAA	0.667000													4	11					0	0	0.001168	0	0
ARSF	416	broad.mit.edu	37	X	3030423	3030423	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:3030423G>A	ENST00000381127.1	+	11	1820	c.1599G>A	c.(1597-1599)aaG>aaA	p.K533K	ARSF_ENST00000359361.2_Silent_p.K533K|ARSF_ENST00000537104.1_Silent_p.K533K	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	533						extracellular region	arylsulfatase activity|metal ion binding	p.K533K(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGATTAAAAAGGTGGCCAACG	0.562000													42	84					0	0	0.007835	0	0
DMD	1756	broad.mit.edu	37	X	32380965	32380965	+	Silent	SNP	G	G	A	rs145515413	byFrequency	TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:32380965G>A	ENST00000357033.4	-	37	5471	c.5265C>T	c.(5263-5265)ccC>ccT	p.P1755P	DMD_ENST00000378677.2_Silent_p.P1751P	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1755	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTGAGATTTGGGGCTCTACTA	0.468000													25	108					0	0	0.007291	0	0
CLCN1	1180	broad.mit.edu	37	7	143018840	143018840	+	Missense_Mutation	SNP	C	C	T	rs143506735		TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr7:143018840C>T	ENST00000343257.2	+	5	682	c.595C>T	c.(595-597)Cgt>Tgt	p.R199C	CLCN1_ENST00000495612.1_3'UTR	NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	199					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GACAATACTTCGTGGGGTTGT	0.507000													23	58					0	0	0.002780	0	0
COL24A1	255631	broad.mit.edu	37	1	86581030	86581030	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:86581030G>A	ENST00000370571.2	-	4	1889	c.1523C>T	c.(1522-1524)cCg>cTg	p.P508L	COL24A1_ENST00000436319.1_Missense_Mutation_p.P508L	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	508	Collagen-like 1.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CTTCCCTGACGGACCTGGGAT	0.423000													10	27					0	0	0.001368	0	0
TMEM194A	23306	broad.mit.edu	37	12	57472468	57472468	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr12:57472468C>T	ENST00000300128.4	-	1	84	c.61G>A	c.(61-63)Gga>Aga	p.G21R	TMEM194A_ENST00000553654.1_Intron|TMEM194A_ENST00000379391.3_Missense_Mutation_p.G21R	NM_001130963.1	NP_001124435.1	O14524	T194A_HUMAN	transmembrane protein 194A	21						integral to membrane				endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CCCCCGACTCCCGAGCCCCAG	0.682000													81	54					0	0	0.003610	0	0
ICA1L	130026	broad.mit.edu	37	2	203693724	203693724	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:203693724G>A	ENST00000392237.2	-	3	166	c.9C>T	c.(7-9)tcC>tcT	p.S3S	ICA1L_ENST00000358299.2_Silent_p.S3S|ICA1L_ENST00000418208.1_Silent_p.S3S|ICA1L_ENST00000425178.1_Silent_p.S3S	NM_138468.4	NP_612477.3	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like	3										breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GTTGCCCAAAGGAATCCATGG	0.383000													121	308					0	0	0.003610	0	0
PCP4L1	654790	broad.mit.edu	37	1	161254232	161254232	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:161254232C>T	ENST00000504449.1	+	3	416	c.168C>T	c.(166-168)ttC>ttT	p.F56F		NM_001102566.1	NP_001096036.1	A6NKN8	PC4L1_HUMAN	Purkinje cell protein 4 like 1	56	IQ.									endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	all_cancers(52;4.16e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AGGGCAAGTTCCGGCGATTTC	0.527000													57	25					0	0	0.003610	0	0
MIER2	54531	broad.mit.edu	37	19	326591	326591	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:326591G>A	ENST00000264819.4	-	6	511	c.501C>T	c.(499-501)ttC>ttT	p.F167F		NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	167					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CATCAGCCAGGAAACGAGCTT	0.557000													31	47					0	0	0.007291	0	0
MTAP	4507	broad.mit.edu	37	9	21816739	21816739	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr9:21816739G>A	ENST00000380172.4	+	3	353	c.147G>A	c.(145-147)aaG>aaA	p.K49K	MTAP_ENST00000580900.1_Silent_p.K49K|MTAP_ENST00000427788.2_3'UTR|MTAP_ENST00000460874.2_Silent_p.K66K|RP11-145E5.5_ENST00000404796.2_Silent_p.K49K	NM_002451.3	NP_002442.2	Q13126	MTAP_HUMAN	methylthioadenosine phosphorylase	49					nucleoside metabolic process	cytoplasm	phosphorylase activity|S-methyl-5-thioadenosine phosphorylase activity	p.0(1)|p.0?(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1)	10		all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173)		GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15)	Adenine(DB00173)	TTTTGGGGAAGATAAAAAATG	0.303000													90	28					0	0	0.003610	0	0
OXR1	55074	broad.mit.edu	37	8	107705019	107705019	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr8:107705019C>T	ENST00000445937.1	+	7	850	c.589C>T	c.(589-591)Cga>Tga	p.R197*	OXR1_ENST00000531443.1_Nonsense_Mutation_p.R197*|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000497705.1_Nonsense_Mutation_p.R130*|OXR1_ENST00000442977.2_Nonsense_Mutation_p.R198*|OXR1_ENST00000312046.6_Nonsense_Mutation_p.R190*|OXR1_ENST00000517566.2_Nonsense_Mutation_p.R197*	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1	198					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			TCGACCTGCACGAGTTGTATC	0.348000													13	46					0	0	0.003163	0	0
COL4A5	1287	broad.mit.edu	37	X	107850081	107850081	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:107850081C>T	ENST00000328300.6	+	29	2598	c.2354C>T	c.(2353-2355)cCt>cTt	p.P785L	COL4A5_ENST00000361603.2_Missense_Mutation_p.P785L	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	785	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CCTCCGGGTCCTCCAGGACGC	0.517000									Alport syndrome with Diffuse Leiomyomatosis				32	116					0	0	0.003271	0	0
UTP6	55813	broad.mit.edu	37	17	30222019	30222019	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:30222019A>C	ENST00000261708.4	-	3	326	c.189T>G	c.(187-189)aaT>aaG	p.N63K	UTP6_ENST00000490218.2_5'UTR	NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	63					rRNA processing	nucleolus	binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				GCTCCAAAAGATTAATTTCAT	0.289000													10	19					0	0	0.001855	0	0
BEND4	389206	broad.mit.edu	37	4	42122148	42122148	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr4:42122148C>T	ENST00000502486.1	-	5	1889	c.1310G>A	c.(1309-1311)aGg>aAg	p.R437K	BEND4_ENST00000504360.1_Missense_Mutation_p.R433K	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	437	BEN.									NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						TGACCTTTTCCTTTTCCCAAG	0.488000													12	22					0	0	0.003163	0	0
SEZ6L	23544	broad.mit.edu	37	22	26692950	26692950	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr22:26692950G>A	ENST00000529632.2	+	4	1262	c.1066G>A	c.(1066-1068)Gag>Aag	p.E356K	SEZ6L_ENST00000404234.3_Missense_Mutation_p.E356K|SEZ6L_ENST00000248933.6_Missense_Mutation_p.E356K|SEZ6L_ENST00000343706.4_Missense_Mutation_p.E356K|SEZ6L_ENST00000403121.1_Missense_Mutation_p.E129K|SEZ6L_ENST00000360929.3_Missense_Mutation_p.E356K|SEZ6L_ENST00000402979.1_Missense_Mutation_p.E129K	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	356	CUB 1.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						ACTCCTGGTGGAGGGGCAGGT	0.622000													24	11					0	0	0.003330	0	0
SYVN1	84447	broad.mit.edu	37	11	64900492	64900492	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr11:64900492G>A	ENST00000526060.1	-	4	471	c.279C>T	c.(277-279)acC>acT	p.T93T	SYVN1_ENST00000307289.6_Silent_p.T93T|SYVN1_ENST00000294256.8_Silent_p.T93T|SYVN1_ENST00000377190.3_Silent_p.T93T			Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	93					ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						CCCGAAAAACGGTGAAGGCCA	0.527000													33	13					0	0	0.002836	0	0
PPP1R10	5514	broad.mit.edu	37	6	30570277	30570277	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr6:30570277G>A	ENST00000376511.2	-	19	2701	c.2149C>T	c.(2149-2151)Cct>Tct	p.P717S		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	717	Gly-rich.				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						ggaggaggaggaggaggTTCG	0.677000													24	32					0	0	0.002299	0	0
ATP8B3	148229	broad.mit.edu	37	19	1783186	1783186	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:1783186G>A	ENST00000539485.1	-	29	4007	c.3774C>T	c.(3772-3774)cgC>cgT	p.R1258R	ATP8B3_ENST00000525591.1_Silent_p.R1211R|ATP8B3_ENST00000310127.6_Silent_p.R1248R			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1248					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCTGGAACGGCGGGCACGAG	0.582000													5	17					0	0	0.000602	0	0
BRD4	23476	broad.mit.edu	37	19	15350537	15350537	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:15350537G>A	ENST00000263377.2	-	16	3599	c.3378C>T	c.(3376-3378)agC>agT	p.S1126S		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1126					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GCAGCGAGGGGCTGAAGGGCT	0.697000			T	C15orf55	lethal midline carcinoma of young people								19	54					0	0	0.007413	0	0
WDR24	84219	broad.mit.edu	37	16	737679	737679	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr16:737679G>A	ENST00000293883.4	-	2	1301	c.542C>T	c.(541-543)tCc>tTc	p.S181F	WDR24_ENST00000248142.6_Missense_Mutation_p.S311F	NM_032259.2	NP_115635.1	Q96S15	WDR24_HUMAN	WD repeat domain 24	254										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				CTCAAAGGTGGAGGCGAAGGT	0.632000													23	23					0	0	0.002299	0	0
GUCY2C	2984	broad.mit.edu	37	12	14849181	14849181	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr12:14849181G>C	ENST00000261170.3	-	1	338	c.202C>G	c.(202-204)Cgt>Ggt	p.R68G	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	68					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						TTTTGCAGACGTCCTCTCACT	0.448000													7	22					0	0	0.004482	0	0
FAT2	2196	broad.mit.edu	37	5	150932928	150932928	+	Silent	SNP	C	C	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr5:150932928C>A	ENST00000261800.5	-	5	3978	c.3966G>T	c.(3964-3966)ggG>ggT	p.G1322G		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1322	Cadherin 11.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGGTGGCTGCCCACTGTCTG	0.577000													7	23					0.00198382	0.00345114	0.001984	1	0
B3GALT1	8708	broad.mit.edu	37	2	168726177	168726177	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:168726177G>T	ENST00000305861.1	+	2	979	c.628G>T	c.(628-630)Gga>Tga	p.G210*	B3GALT1_ENST00000392690.2_Nonsense_Mutation_p.G210*|AC016723.4_ENST00000436982.2_RNA|AC016723.4_ENST00000430546.1_RNA	NM_020981.3	NP_066191.1	Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1	210					lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						TGTCATTAATGGAGGACCGAT	0.438000													14	45					0.000151284	0.000263962	0.001855	1	0
HIPK1	204851	broad.mit.edu	37	1	114483987	114483987	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:114483987C>T	ENST00000369558.1	+	2	1214	c.982C>T	c.(982-984)Cgc>Tgc	p.R328C	HIPK1_ENST00000369559.4_Missense_Mutation_p.R328C|HIPK1_ENST00000369561.4_Missense_Mutation_p.R328C|HIPK1_ENST00000369554.2_Missense_Mutation_p.R328C|HIPK1_ENST00000426820.2_Missense_Mutation_p.R328C|HIPK1_ENST00000369555.2_Missense_Mutation_p.R328C			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	328	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGATCCAGTTCGCCAGCCCTA	0.493000													48	214					0	0	0.003610	0	0
SLC26A4	5172	broad.mit.edu	37	7	107329560	107329560	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr7:107329560C>T	ENST00000265715.3	+	9	1288	c.1064C>T	c.(1063-1065)tCc>tTc	p.S355F		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	355					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GCATCATTTTCCATCGCTGTG	0.448000									Pendred syndrome				32	98					0	0	0.002445	0	0
DDX51	317781	broad.mit.edu	37	12	132626121	132626121	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr12:132626121G>A	ENST00000397333.3	-	7	1064	c.1026C>T	c.(1024-1026)atC>atT	p.I342I		NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	342	Helicase ATP-binding.				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		TGGCTACCACGATGTCAGCCA	0.637000													28	28					0	0	0.003271	0	0
FGFR2	2263	broad.mit.edu	37	10	123276957	123276957	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr10:123276957C>T	ENST00000358487.5	-	8	1232	c.960G>A	c.(958-960)acG>acA	p.T320T	FGFR2_ENST00000369059.1_Intron|FGFR2_ENST00000369061.4_Intron|FGFR2_ENST00000357555.5_Silent_p.T231T|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000369056.1_Intron|FGFR2_ENST00000351936.6_Silent_p.T320T|FGFR2_ENST00000360144.3_Intron|FGFR2_ENST00000356226.4_Silent_p.T205T|FGFR2_ENST00000346997.2_Silent_p.T320T|FGFR2_ENST00000457416.2_Intron|FGFR2_ENST00000478859.1_Silent_p.T92T|FGFR2_ENST00000369060.4_Intron	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	320	Ig-like C2-type 3.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	TCTCTTTGTCCGTGGTGTTAA	0.478000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				21	8					0	0	0.001882	0	0
STXBP2	6813	broad.mit.edu	37	19	7707104	7707104	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:7707104C>T	ENST00000441779.2	+	9	749	c.712C>T	c.(712-714)Cgc>Tgc	p.R238C	STXBP2_ENST00000221283.5_Missense_Mutation_p.R227C|STXBP2_ENST00000414284.2_Missense_Mutation_p.R224C	NM_001272034.1	NP_001258963.1	Q15833	STXB2_HUMAN	syntaxin binding protein 2	227					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						AGAGAAAACCCGCTCCCAGCT	0.632000													17	55					0	0	0.004990	0	0
SYNE1	23345	broad.mit.edu	37	6	152576738	152576738	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr6:152576738G>A	ENST00000367255.5	-	103	19849	c.19248C>T	c.(19246-19248)ctC>ctT	p.L6416L	SYNE1_ENST00000341594.5_Silent_p.L6028L|SYNE1_ENST00000448038.1_Silent_p.L6345L|SYNE1_ENST00000265368.4_Silent_p.L6416L|SYNE1_ENST00000423061.1_Silent_p.L6345L|SYNE1_ENST00000356820.4_Silent_p.L940L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6416					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)		CTTGGTTGAAGAGACAAGTCT	0.383000										HNSCC(10;0.0054)			26	34					0	0	0.004656	0	0
GABRR1	2569	broad.mit.edu	37	6	89891630	89891630	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr6:89891630G>A	ENST00000435811.1	-	7	1346	c.892C>T	c.(892-894)Ccc>Tcc	p.P298S	GABRR1_ENST00000454853.2_Missense_Mutation_p.P315S|GABRR1_ENST00000369451.3_Missense_Mutation_p.P228S	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	315					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	TTACCTAAGGGGACTCTGGCA	0.453000													48	76					0	0	0.003610	0	0
MOSPD2	158747	broad.mit.edu	37	X	14915261	14915261	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:14915261G>A	ENST00000380492.3	+	5	466	c.378G>A	c.(376-378)aaG>aaA	p.K126K	MOSPD2_ENST00000482354.1_Silent_p.K126K|MOSPD2_ENST00000495110.1_3'UTR	NM_001177475.1|NM_152581.3	NP_001170946.1|NP_689794.1	Q8NHP6	MSPD2_HUMAN	motile sperm domain containing 2	126	CRAL-TRIO.					integral to membrane	structural molecule activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	Hepatocellular(33;0.183)					TGGACAAAAAGAAGCTCATAG	0.363000													25	76					0	0	0.007291	0	0
UGT1A3	54659	broad.mit.edu	37	2	234638323	234638323	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:234638323G>A	ENST00000482026.1	+	1	570	c.551G>A	c.(550-552)gGc>gAc	p.G184D	UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A4_ENST00000373409.3_Intron	NM_019093.2	NP_061966.1														breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)		GACTTTAAGGGCACACAGTGT	0.448000													46	142					0	0	0.002852	0	0
GRM7	2917	broad.mit.edu	37	3	7620949	7620949	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr3:7620949G>A	ENST00000486284.1	+	8	2630	c.2356G>A	c.(2356-2358)Gaa>Aaa	p.E786K	GRM7_ENST00000402647.2_Missense_Mutation_p.E786K|GRM7_ENST00000389336.4_Missense_Mutation_p.E786K|GRM7_ENST00000357716.4_Missense_Mutation_p.E786K|GRM7_ENST00000403881.1_Missense_Mutation_p.E786K|GRM7_ENST00000458641.2_3'UTR	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	786					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GAATTTTAACGAAGCCAAGCC	0.433000													38	23					0	0	0.003755	0	0
CNBD2	140894	broad.mit.edu	37	20	34568455	34568455	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr20:34568455C>T	ENST00000373973.3	+	4	491	c.318C>T	c.(316-318)gcC>gcT	p.A106A	CNBD2_ENST00000538900.1_Silent_p.A106A|CNBD2_ENST00000349339.1_Silent_p.A106A					cyclic nucleotide binding domain containing 2																		AGATCCAGGCCGTCTGTAACA	0.542000													46	43					0	0	0.002852	0	0
NIN	51199	broad.mit.edu	37	14	51227046	51227046	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr14:51227046G>A	ENST00000245441.5	-	17	2118	c.1928C>T	c.(1927-1929)aCc>aTc	p.T643I	NIN_ENST00000530997.2_Missense_Mutation_p.T643I|NIN_ENST00000382041.3_Missense_Mutation_p.T643I|NIN_ENST00000389868.3_Missense_Mutation_p.T643I|NIN_ENST00000453196.1_Missense_Mutation_p.T643I|NIN_ENST00000382043.4_Missense_Mutation_p.T643I|NIN_ENST00000324330.9_Missense_Mutation_p.T643I	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	643					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					GCTGACCACGGTTTCGTCCAG	0.453000			T	PDGFRB	MPD								22	54					0	0	0.002299	0	0
C2orf44	80304	broad.mit.edu	37	2	24260573	24260573	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:24260573G>A	ENST00000295148.4	-	2	1849	c.1792C>T	c.(1792-1794)Ctt>Ttt	p.L598F	C2orf44_ENST00000406895.3_Missense_Mutation_p.L598F	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	598							protein binding		C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACATAAGGAAGATCTTGAGAG	0.413000			T	ALK	NSCLC								23	74					0	0	0.002780	0	0
TRIM65	201292	broad.mit.edu	37	17	73887946	73887946	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:73887946G>A	ENST00000269383.3	-	5	998	c.933C>T	c.(931-933)ccC>ccT	p.P311P		NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	tripartite motif containing 65	311						intracellular	zinc ion binding			endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCGGTGCCAGGGGACCTGGGG	0.627000													5	18					0	0	0.001168	0	0
C2orf78	388960	broad.mit.edu	37	2	74043308	74043308	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:74043308C>T	ENST00000409561.1	+	3	2079	c.1958C>T	c.(1957-1959)tCc>tTc	p.S653F		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	653										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TTCTCTTCCTCCAGGACCCTG	0.512000													35	31					0	0	0.003271	0	0
MYH15	22989	broad.mit.edu	37	3	108117669	108117669	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr3:108117669C>T	ENST00000273353.3	-	36	5064	c.5008G>A	c.(5008-5010)Gat>Aat	p.D1670N		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1670						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.D1670H(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GTGCTGTCATCCAGCTGCATT	0.498000													43	124					0	0	0.007835	0	0
RASAL2	9462	broad.mit.edu	37	1	178411966	178411966	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:178411966G>A	ENST00000448150.3	+	8	1848	c.1030G>A	c.(1030-1032)Gaa>Aaa	p.E344K	RASAL2_ENST00000367649.3_Missense_Mutation_p.E362K|RASAL2_ENST00000462775.1_Missense_Mutation_p.E214K	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	214	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TTTCTGGGGCGAACATTTTGA	0.383000													23	81					0	0	0.003330	0	0
SLC9A3R1	9368	broad.mit.edu	37	17	72759590	72759590	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:72759590G>A	ENST00000262613.5	+	3	883	c.688G>A	c.(688-690)Gtg>Atg	p.V230M	SLC9A3R1_ENST00000413388.2_Missense_Mutation_p.V74M	NM_004252.4	NP_004243.1	O14745	NHRF1_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1	230	PDZ 2.				apoptosis|bile acid secretion|glutathione transport|microvillus assembly|negative regulation of cell proliferation|negative regulation of ERK1 and ERK2 cascade|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|protein complex assembly|regulation of protein kinase activity|regulation of sodium:hydrogen antiporter activity|renal absorption|Wnt receptor signaling pathway	actin cytoskeleton|apical plasma membrane|centrosome|endomembrane system|filopodium|intracellular membrane-bounded organelle|microvillus membrane|ruffle	beta-2 adrenergic receptor binding|beta-catenin binding|chloride channel regulator activity|growth factor receptor binding|PDZ domain binding|phosphatase binding|protein self-association			large_intestine(4)	4						CAAGCTGCTGGTGGTGGACAG	0.622000													21	12					0	0	0.001523	0	0
XIRP2	129446	broad.mit.edu	37	2	168103229	168103229	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:168103229G>A	ENST00000409195.1	+	9	5416	c.5327G>A	c.(5326-5328)gGa>gAa	p.G1776E	XIRP2_ENST00000409273.1_Missense_Mutation_p.G1554E|XIRP2_ENST00000295237.9_Missense_Mutation_p.G1776E|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1601					actin cytoskeleton organization	cell junction	actin binding	p.G1776E(1)		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						AAACAAGAAGGAGAGAAAGAA	0.398000													55	24					0	0	0.003610	0	0
EVPL	2125	broad.mit.edu	37	17	74020174	74020174	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:74020174G>A	ENST00000301607.3	-	2	379	c.126C>T	c.(124-126)ctC>ctT	p.L42L	EVPL_ENST00000586740.1_Silent_p.L42L	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	42	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TGCGGGAGATGAGAAGGGCCA	0.672000													12	25					0	0	0.004990	0	0
GPRC6A	222545	broad.mit.edu	37	6	117130776	117130776	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr6:117130776C>T	ENST00000310357.3	-	2	220	c.199G>A	c.(199-201)Gaa>Aaa	p.E67K	GPRC6A_ENST00000530250.1_Missense_Mutation_p.E67K|GPRC6A_ENST00000368549.3_Missense_Mutation_p.E67K	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	67					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)		ACTGATATTTCAAAGCTGTTG	0.363000													25	9					0	0	0.004656	0	0
SCAF1	58506	broad.mit.edu	37	19	50158054	50158054	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:50158054C>T	ENST00000360565.3	+	9	3669	c.3545C>T	c.(3544-3546)cCc>cTc	p.P1182L		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	1182					mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CCCCCCACCCCCACCGGGCTG	0.697000													32	22					0	0	0.001786	0	0
DDAH2	23564	broad.mit.edu	37	6	31696664	31696664	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr6:31696664C>T	ENST00000375792.3	-	2	905	c.275G>A	c.(274-276)tGg>tAg	p.W92*	DDAH2_ENST00000375787.2_Nonsense_Mutation_p.W92*|DDAH2_ENST00000375789.2_Nonsense_Mutation_p.W92*|DDAH2_ENST00000480913.1_Intron			O95865	DDAH2_HUMAN	dimethylarginine dimethylaminohydrolase 2	92					anti-apoptosis|arginine catabolic process|citrulline metabolic process|nitric oxide biosynthetic process|nitric oxide mediated signal transduction	cytoplasm	dimethylargininase activity|protein binding			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	11					L-Citrulline(DB00155)	AGCGGGGCTCCAGGGCCGCGT	0.642000													13	331					0	0	0.001855	0	0
TMEM14B	81853	broad.mit.edu	37	6	10751440	10751440	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr6:10751440G>A	ENST00000467317.1	+	4	270	c.175G>A	c.(175-177)Gat>Aat	p.D59N	TMEM14B_ENST00000461342.1_Intron|SYCP2L_ENST00000543878.1_Intron|TMEM14B_ENST00000379530.3_Intron|TMEM14B_ENST00000473276.1_Intron|TMEM14B_ENST00000491103.1_3'UTR|RP11-637O19.3_ENST00000480294.1_Intron|TMEM14B_ENST00000481240.1_Intron|TMEM14B_ENST00000379542.5_Missense_Mutation_p.D59N|TMEM14B_ENST00000475942.1_Missense_Mutation_p.D59N			Q9NUH8	TM14B_HUMAN	transmembrane protein 14B	59						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(2)|skin(2)	11	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.135)				GCTGTATCAGGATCCAAGGAA	0.537000													61	73					0	0	0.003610	0	0
ZNF616	90317	broad.mit.edu	37	19	52618800	52618800	+	Silent	SNP	A	A	G			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:52618800A>G	ENST00000600228.1	-	4	1878	c.1617T>C	c.(1615-1617)caT>caC	p.H539H	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	539					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		GAATTCTCCGATGCCTTGCAA	0.443000													38	38					0	0	0.004878	0	0
SYTL4	94121	broad.mit.edu	37	X	99936232	99936232	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:99936232C>T	ENST00000455616.1	-	15	1896	c.1550G>A	c.(1549-1551)cGg>cAg	p.R517Q	SYTL4_ENST00000263033.5_Missense_Mutation_p.R517Q|SYTL4_ENST00000454200.2_Missense_Mutation_p.R519Q|SYTL4_ENST00000276141.6_Missense_Mutation_p.R517Q|SYTL4_ENST00000372989.1_Missense_Mutation_p.R517Q			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	517	C2 2.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding	p.R517Q(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACTCTTTTTCCGGTCACCTCC	0.512000													18	42					0	0	0.008871	0	0
TIAM2	26230	broad.mit.edu	37	6	155578089	155578089	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr6:155578089G>A	ENST00000461783.3	+	29	6213	c.4940G>A	c.(4939-4941)gGa>gAa	p.G1647E	TIAM2_ENST00000456144.1_Missense_Mutation_p.G1676E|TIAM2_ENST00000318981.5_Missense_Mutation_p.G1647E|TIAM2_ENST00000529824.2_Missense_Mutation_p.G1676E|TIAM2_ENST00000360366.4_Missense_Mutation_p.G1671E|TIAM2_ENST00000528391.2_Missense_Mutation_p.G991E|TIAM2_ENST00000275246.7_Missense_Mutation_p.G572E|TIAM2_ENST00000367174.2_Missense_Mutation_p.G1023E|TIAM2_ENST00000456877.2_Missense_Mutation_p.G959E			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1647					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AGGGACAGAGGAACTTTGCTC	0.532000													15	8					0	0	0.002450	0	0
PLCE1	51196	broad.mit.edu	37	10	95848877	95848877	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr10:95848877G>A	ENST00000371375.1	+	1	26	c.26G>A	c.(25-27)gGa>gAa	p.G9E	RP11-429H9.4_ENST00000438899.1_RNA|PLCE1_ENST00000371380.2_Intron|PLCE1_ENST00000371385.3_Missense_Mutation_p.G9E|PLCE1_ENST00000260766.3_Intron			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	0					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AGTGCAGCAGGAAGAGACTTT	0.483000													33	13					0	0	0.002096	0	0
NRXN2	9379	broad.mit.edu	37	11	64419053	64419053	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr11:64419053G>A	ENST00000265459.6	-	14	3053	c.2592C>T	c.(2590-2592)atC>atT	p.I864I	NRXN2_ENST00000409571.1_Silent_p.I857I|NRXN2_ENST00000377551.1_Silent_p.I864I|NRXN2_ENST00000377559.3_Silent_p.I824I|AP001092.4_ENST00000433606.1_RNA	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	864	Laminin G-like 4.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GCTCCGTCATGATGCCCGTCT	0.587000											OREG0021057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	30					0	0	0.000602	0	0
OR2B2	81697	broad.mit.edu	37	6	27879786	27879786	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr6:27879786G>A	ENST00000303324.2	-	1	388	c.312C>T	c.(310-312)ttC>ttT	p.F104F		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						CCAAGGCCAGGAAAATGAAAA	0.448000													30	41					0	0	0.008361	0	0
ANKRD49	54851	broad.mit.edu	37	11	94231575	94231575	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr11:94231575C>T	ENST00000544612.1	+	3	1094	c.597C>T	c.(595-597)taC>taT	p.Y199Y	ANKRD49_ENST00000538535.1_3'UTR|ANKRD49_ENST00000544253.1_3'UTR|ANKRD49_ENST00000302755.4_Silent_p.Y199Y	NM_017704.2	NP_060174.2	Q8WVL7	ANR49_HUMAN	ankyrin repeat domain 49	199					positive regulation of transcription, DNA-dependent					autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TGAACCGTTACGTCAAACCAG	0.453000													43	16					0	0	0.008740	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151152185	151152185	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr6:151152185T>A	ENST00000367328.1	+	16	2250	c.1938T>A	c.(1936-1938)ttT>ttA	p.F646L	PLEKHG1_ENST00000358517.2_Missense_Mutation_p.F646L	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	646					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		TGACTCCCTTTGGGTCATCCA	0.458000													20	12					0	0	0.007413	0	0
LINC00922	283867	broad.mit.edu	37	16	65397140	65397140	+	RNA	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr16:65397140G>A	ENST00000569736.1	-	0	540				RP11-256I9.3_ENST00000562656.1_lincRNA	NR_027755.1																						GACAGTCATTGAACACAGTAG	0.398000													37	61					0	0	0.006999	0	0
POTEG	404785	broad.mit.edu	37	14	19553567	19553567	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr14:19553567G>A	ENST00000409832.3	+	1	203	c.151G>A	c.(151-153)Gat>Aat	p.D51N		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	51										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AGACCACGACGATTCTGCTAT	0.602000													37	550					0	0	0.003610	0	0
IGHV3-23	28442	broad.mit.edu	37	14	106725222	106725222	+	RNA	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr14:106725222C>T	ENST00000390609.2	-	0	408																											AATATACGGCCGTGTCCTCGG	0.547000													41	274					0	0	0.002852	0	0
IFIH1	64135	broad.mit.edu	37	2	163134154	163134154	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:163134154C>T	ENST00000263642.2	-	10	2210	c.1815G>A	c.(1813-1815)agG>agA	p.R605R		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	605					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						CATTGTACTTCCTCAAATGTT	0.328000													22	62					0	0	0.001882	0	0
USH1C	10083	broad.mit.edu	37	11	17531373	17531373	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr11:17531373G>A	ENST00000005226.7	-	18	1542	c.1543C>T	c.(1543-1545)Ccc>Tcc	p.P515S	USH1C_ENST00000527020.1_Intron|USH1C_ENST00000529563.1_Intron|USH1C_ENST00000527720.1_Intron|USH1C_ENST00000318024.4_Intron	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	0	PDZ 3.				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						GGAGGCGGGGGCCCTGTGGTC	0.577000													54	26					0	0	0.003610	0	0
ZNF226	7769	broad.mit.edu	37	19	44680330	44680330	+	Silent	SNP	A	A	G			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:44680330A>G	ENST00000590089.1	+	7	1282	c.915A>G	c.(913-915)gaA>gaG	p.E305E	ZNF226_ENST00000337433.5_Silent_p.E305E|ZNF226_ENST00000454662.2_Silent_p.E305E|ZNF226_ENST00000588883.1_3'UTR			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				ATGTGGGAGAAAAACTTAAGT	0.433000													14	35					0	0	0.003163	0	0
SMARCA1	6594	broad.mit.edu	37	X	128602861	128602861	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:128602861G>A	ENST00000371122.4	-	21	2716	c.2587C>T	c.(2587-2589)Cga>Tga	p.R863*	SMARCA1_ENST00000371123.1_Nonsense_Mutation_p.R851*|SMARCA1_ENST00000371121.3_Nonsense_Mutation_p.R851*	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	863	SANT 1.				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TTAAAATCTCGTTTAGTCCAG	0.338000													9	51					0	0	0.006214	0	0
CELSR3	1951	broad.mit.edu	37	3	48698609	48698609	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr3:48698609C>T	ENST00000544264.1	-	1	1739	c.1459G>A	c.(1459-1461)Gag>Aag	p.E487K	CELSR3_ENST00000164024.4_Missense_Mutation_p.E487K			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	487	Cadherin 2.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGATCAATCTCGAAGGCGGCG	0.697000													8	1					0	0	0.003080	0	0
C1orf51	148523	broad.mit.edu	37	1	150259002	150259002	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:150259002C>T	ENST00000290363.5	+	5	1243	c.794C>T	c.(793-795)cCa>cTa	p.P265L	C1orf51_ENST00000369095.1_Missense_Mutation_p.P265L|C1orf51_ENST00000369094.1_Missense_Mutation_p.P177L	NM_144697.2	NP_653298.1	Q8N365	CA051_HUMAN	chromosome 1 open reading frame 51	265										endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACACCACTCCAATTTGCAAC	0.517000													23	108					0	0	0.003330	0	0
CSMD3	114788	broad.mit.edu	37	8	114111073	114111073	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr8:114111073C>T	ENST00000297405.5	-	5	1073	c.829G>A	c.(829-831)Gac>Aac	p.D277N	CSMD3_ENST00000352409.3_Missense_Mutation_p.D277N|CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000455883.2_Missense_Mutation_p.D277N|CSMD3_ENST00000343508.3_Missense_Mutation_p.D237N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	277	CUB 2.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GAAATTGTGTCCCCAGGCTCT	0.388000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			15	27					0	0	0.002450	0	0
RSF1	51773	broad.mit.edu	37	11	77383160	77383160	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr11:77383160G>A	ENST00000308488.6	-	15	3980	c.3678C>T	c.(3676-3678)tcC>tcT	p.S1226S	RSF1_ENST00000480887.1_Silent_p.S974S|RSF1_ENST00000360355.2_Silent_p.S1195S			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1226	Arg-rich.				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			AACTCTTCTGGGAACCGTCAC	0.413000													12	158					0	0	0.001855	0	0
C9	735	broad.mit.edu	37	5	39311416	39311416	+	Missense_Mutation	SNP	C	C	T	rs147710831		TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr5:39311416C>T	ENST00000263408.4	-	7	1029	c.934G>A	c.(934-936)Gat>Aat	p.D312N		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	312	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			AGCACAACATCGCGATTTCTC	0.368000													23	64					0	0	0.002780	0	0
CCDC150	284992	broad.mit.edu	37	2	197521391	197521391	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:197521391C>T	ENST00000389175.4	+	3	346	c.211C>T	c.(211-213)Ctg>Ttg	p.L71L	CCDC150_ENST00000472405.2_5'UTR|CCDC150_ENST00000272831.7_Intron|CCDC150_ENST00000423093.2_Intron	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	71										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TTTAGAAGACCTGGACAGCCA	0.363000													10	16					0	0	0.008291	0	0
PCDHB16	57717	broad.mit.edu	37	5	140562935	140562935	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr5:140562935G>A	ENST00000361016.2	+	1	1956	c.801G>A	c.(799-801)agG>agA	p.R267R		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		267	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTCCGCCAGGGATTTAGACG	0.478000													46	38					0	0	0.003610	0	0
ARL6IP5	10550	broad.mit.edu	37	3	69153703	69153703	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr3:69153703G>A	ENST00000273258.3	+	3	587	c.483G>A	c.(481-483)ccG>ccA	p.P161P	ARL6IP5_ENST00000478935.1_Intron	NM_006407.3	NP_006398.1	O75915	PRAF3_HUMAN	ADP-ribosylation-like factor 6 interacting protein 5	161	Targeting to endoplasmic reticulum membrane (By similarity).				L-glutamate transport	endoplasmic reticulum membrane|integral to membrane				biliary_tract(1)|endometrium(1)|large_intestine(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.78e-05)|Epithelial(33;0.000818)|LUSC - Lung squamous cell carcinoma(21;0.0118)|Lung(16;0.0189)|KIRC - Kidney renal clear cell carcinoma(39;0.203)|Kidney(39;0.238)		AGAGGACACCGATGGGCATTG	0.438000													15	40					0	0	0.002450	0	0
CPZ	8532	broad.mit.edu	37	4	8616199	8616199	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr4:8616199G>A	ENST00000429646.2	+	7	3094	c.301G>A	c.(301-303)Gag>Aag	p.E101K	CPZ_ENST00000360986.4_Missense_Mutation_p.E493K|CPZ_ENST00000382480.2_Missense_Mutation_p.E356K|CPZ_ENST00000315782.6_Missense_Mutation_p.E482K			Q66K79	CBPZ_HUMAN	carboxypeptidase Z	493	FZ.				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GCACAACAAGGAGTCACTCCT	0.592000													13	22					0	0	0.004007	0	0
NUP133	55746	broad.mit.edu	37	1	229606385	229606385	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:229606385T>C	ENST00000261396.3	-	15	2109	c.2018A>G	c.(2017-2019)aAc>aGc	p.N673S	NUP133_ENST00000366679.1_Missense_Mutation_p.N673S|NUP133_ENST00000537506.1_Missense_Mutation_p.N657S	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	673					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				CTCCCTCTTGTTCAAAGCAAT	0.483000													77	36					0	0	0.003610	0	0
SPTBN2	6712	broad.mit.edu	37	11	66475050	66475050	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr11:66475050G>A	ENST00000533211.1	-	13	1921	c.1590C>T	c.(1588-1590)aaC>aaT	p.N530N	SPTBN2_ENST00000529997.1_Silent_p.N530N|SPTBN2_ENST00000309996.2_Silent_p.N530N			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	530					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GCAGCTCCAGGTTGAGGAGGA	0.622000													17	5					0	0	0.004007	0	0
COL4A5	1287	broad.mit.edu	37	X	107850122	107850122	+	Splice_Site	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:107850122G>A	ENST00000328300.6	+	29	2639	c.2395_splice	c.e29+1	p.G799_splice	COL4A5_ENST00000361603.2_Splice_Site_p.G799_splice	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	799	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TGGACCAAAAGGTATGGAGGC	0.478000									Alport syndrome with Diffuse Leiomyomatosis				57	68					0	0	0.003610	0	0
MMS22L	253714	broad.mit.edu	37	6	97599701	97599701	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr6:97599701G>A	ENST00000275053.4	-	23	3693	c.3428C>T	c.(3427-3429)gCc>gTc	p.A1143V	MMS22L_ENST00000369251.2_Missense_Mutation_p.A1103V	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	1143					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding			breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						CACTTGGCAGGCTTTTACCAT	0.458000													29	174					0	0	0.002096	0	0
C5orf48	389320	broad.mit.edu	37	5	125968322	125968322	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr5:125968322G>A	ENST00000357147.3	+	2	184	c.171G>A	c.(169-171)atG>atA	p.M57I		NM_207408.1	NP_997291.1	Q6ZNM6	CE048_HUMAN	chromosome 5 open reading frame 48	57										large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	7						AAGAAAACATGATATTCAGGA	0.378000													6	20					0	0	0.001168	0	0
TRIM46	80128	broad.mit.edu	37	1	155149757	155149757	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:155149757G>A	ENST00000392451.2	+	5	983	c.900G>A	c.(898-900)agG>agA	p.R300R	TRIM46_ENST00000334634.4_Silent_p.R300R|TRIM46_ENST00000368382.1_Silent_p.R277R|TRIM46_ENST00000545012.1_Silent_p.R174R|TRIM46_ENST00000543729.1_Silent_p.R307R|TRIM46_ENST00000368383.3_Silent_p.R300R|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000368385.4_Silent_p.R300R			Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	300						intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGGCCGTGAGGCACACCGAGG	0.602000													70	33					0	0	0.003610	0	0
CCDC63	160762	broad.mit.edu	37	12	111345145	111345145	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr12:111345145C>T	ENST00000308208.5	+	12	1799	c.1557C>T	c.(1555-1557)ccC>ccT	p.P519P	CCDC63_ENST00000545036.1_Silent_p.P479P|CCDC63_ENST00000552694.1_Silent_p.P440P	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	519										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						TGGAACAGCCCCTGGACCACA	0.572000													15	25					0	0	0.003163	0	0
NXPE4	54827	broad.mit.edu	37	11	114442128	114442128	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr11:114442128C>T	ENST00000375478.3	-	6	1347	c.1167G>A	c.(1165-1167)agG>agA	p.R389R	NXPE4_ENST00000424261.2_Silent_p.R105R	NM_001077639.1	NP_001071107.1			neurexophilin and PC-esterase domain family, member 4																		TGTTGATGTTCCTATCCAAAT	0.418000													7	164					0	0	0.001984	0	0
GLP1R	2740	broad.mit.edu	37	6	39047370	39047370	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr6:39047370C>T	ENST00000373256.4	+	11	1117	c.1074C>T	c.(1072-1074)ccC>ccT	p.P358P		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	358					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	CACTCATCCCCCTGCTGGGGA	0.567000													38	69					0	0	0.005524	0	0
MYOM2	9172	broad.mit.edu	37	8	2057234	2057234	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr8:2057234G>A	ENST00000262113.4	+	25	3233	c.3092G>A	c.(3091-3093)cGg>cAg	p.R1031Q	MYOM2_ENST00000523438.1_Missense_Mutation_p.R456Q	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1031					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GATAAGGGGCGGGTTCGCTTC	0.443000													28	22					0	0	0.006320	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101583122	101583122	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr5:101583122C>T	ENST00000310954.6	-	10	1931	c.1645G>A	c.(1645-1647)Gaa>Aaa	p.E549K		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	549	Kazal-like.				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GTTTTCCTTTCAATACAGGAA	0.299000													34	102					0	0	0.004878	0	0
NLRP1	22861	broad.mit.edu	37	17	5463221	5463221	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:5463221G>A	ENST00000345221.3	-	4	1349	c.795C>T	c.(793-795)tcC>tcT	p.S265S	NLRP1_ENST00000269280.4_Silent_p.S265S|NLRP1_ENST00000354411.3_Silent_p.S265S|NLRP1_ENST00000572272.1_Silent_p.S265S|NLRP1_ENST00000577119.1_Silent_p.S265S|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000262467.5_Silent_p.S265S	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	265					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				AGGGCCATGTGGAACAGAGGC	0.557000													54	155					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179422027	179422027	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:179422027C>T	ENST00000589042.1	-	329	88186	c.87962G>A	c.(87961-87963)gGa>gAa	p.G29321E	TTN_ENST00000342175.6_Missense_Mutation_p.G20448E|TTN_ENST00000460472.2_Missense_Mutation_p.G20256E|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G26753E|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G20381E|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G27680E|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27680	Ig-like 134.						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)			GCTAGGTTTTCCAACTCCAGC	0.418000													26	29					0	0	0.003954	0	0
PDZD4	57595	broad.mit.edu	37	X	153068892	153068892	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:153068892G>A	ENST00000164640.4	-	8	2417	c.2226C>T	c.(2224-2226)acC>acT	p.T742T	PDZD4_ENST00000393758.2_Silent_p.T667T|PDZD4_ENST00000544474.1_Silent_p.T633T	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	742						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCTCCTGGATGGTGATCCAGT	0.602000													24	23					0	0	0.002780	0	0
SV2C	22987	broad.mit.edu	37	5	75591654	75591654	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr5:75591654C>T	ENST00000502798.2	+	9	1831	c.1389C>T	c.(1387-1389)tcC>tcT	p.S463S	SV2C_ENST00000322285.7_Silent_p.S463S|RP11-466P24.6_ENST00000502589.1_RNA	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	463					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		CTCTGCAGTCCGATGAATATG	0.373000													68	56					0	0	0.003610	0	0
DDX18	8886	broad.mit.edu	37	2	118575251	118575251	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:118575251A>G	ENST00000263239.2	+	2	445	c.317A>G	c.(316-318)gAa>gGa	p.E106G	DDX18_ENST00000474694.1_3'UTR	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	106							ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TCCAATTCAGAATCAAAAAAG	0.353000													41	122					0	0	0.006230	0	0
PRRC2B	84726	broad.mit.edu	37	9	134363292	134363292	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr9:134363292C>T	ENST00000357304.4	+	27	6089	c.6034C>T	c.(6034-6036)Ctc>Ttc	p.L2012F	PRRC2B_ENST00000458550.1_Missense_Mutation_p.L1318F|PRRC2B_ENST00000405995.1_Missense_Mutation_p.L1318F|PRRC2B_ENST00000372249.1_Missense_Mutation_p.L109F	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	2012							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CACCATGATCCTCTCTGGGGG	0.607000													10	45					0	0	0.008291	0	0
THBS2	7058	broad.mit.edu	37	6	169639732	169639732	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr6:169639732G>A	ENST00000366787.3	-	8	1340	c.1091C>T	c.(1090-1092)tCc>tTc	p.S364F		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	364	VWFC.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TTCCACAAAGGATGGACTGGC	0.483000													12	4					0	0	0.002450	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64673245	64673245	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr3:64673245C>A	ENST00000498707.1	-	1	431	c.89G>T	c.(88-90)cGc>cTc	p.R30L	ADAMTS9-AS2_ENST00000474768.1_RNA|ADAMTS9-AS2_ENST00000485174.1_RNA|ADAMTS9-AS2_ENST00000481312.1_RNA|ADAMTS9-AS2_ENST00000460833.1_RNA|ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R30L|ADAMTS9_ENST00000459780.1_Missense_Mutation_p.R30L	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	30					glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CCTGTCCTTGCGCACGGCCGC	0.726000													38	30					3.76604e-16	6.63997e-16	0.002522	1	0
FAT4	79633	broad.mit.edu	37	4	126371324	126371324	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr4:126371324G>A	ENST00000394329.3	+	9	9166	c.9153G>A	c.(9151-9153)ttG>ttA	p.L3051L	FAT4_ENST00000335110.5_Silent_p.L1349L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3051	Cadherin 29.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTTCTGACTTGAACCAAAACT	0.388000													16	22					0	0	0.003163	0	0
TNRC18	84629	broad.mit.edu	37	7	5348769	5348769	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr7:5348769C>T	ENST00000399537.4	-	28	8967	c.8619G>A	c.(8617-8619)caG>caA	p.Q2873Q	TNRC18_ENST00000430969.1_Silent_p.Q2873Q			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2873	BAH.						DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TCACCTGGCCCTGGTGGAACT	0.672000													6	4					0	0	0.001168	0	0
SLC6A8	6535	broad.mit.edu	37	X	152954135	152954135	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:152954135G>A	ENST00000253122.5	+	1	582	c.106G>A	c.(106-108)Ggc>Agc	p.G36S		NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	36					creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	cAAGGGCGACGGCCCCGTGGG	0.731000													6	6					0	0	0.001168	0	0
ATF7IP	55729	broad.mit.edu	37	12	14578076	14578076	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr12:14578076G>A	ENST00000544627.1	+	2	1571	c.1251G>A	c.(1249-1251)acG>acA	p.T417T	ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000540793.1_Silent_p.T409T|ATF7IP_ENST00000536444.1_Silent_p.T409T|ATF7IP_ENST00000543189.1_Silent_p.T409T|ATF7IP_ENST00000261168.4_Silent_p.T409T			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	409	Glu-rich.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TTGTAGAAACGATTAATGAAA	0.338000													12	50					0	0	0.000978	0	0
TNXB	7148	broad.mit.edu	37	6	32049835	32049835	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr6:32049835G>A	ENST00000375244.3	-	9	3915	c.3714C>T	c.(3712-3714)ccC>ccT	p.P1238P	TNXB_ENST00000375247.2_Silent_p.P1238P			P22105	TENX_HUMAN	tenascin XB	1325					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CGGCCGTGAGGGGGCCATACC	0.572000													155	244					0	0	0.003610	0	0
TLR3	7098	broad.mit.edu	37	4	187005174	187005174	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr4:187005174A>T	ENST00000296795.2	+	4	2438	c.2334A>T	c.(2332-2334)gaA>gaT	p.E778D	TLR3_ENST00000504367.1_Missense_Mutation_p.E501D	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	778	TIR.				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|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-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		CTTCAATGGAAAAGGAAGACC	0.368000													19	45					0	0	0.008871	0	0
ADCY7	113	broad.mit.edu	37	16	50338390	50338390	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr16:50338390C>T	ENST00000394697.2	+	11	1828	c.1488C>T	c.(1486-1488)ccC>ccT	p.P496P	ADCY7_ENST00000254235.3_Silent_p.P496P|ADCY7_ENST00000566433.2_Silent_p.P496P|ADCY7_ENST00000538642.1_Silent_p.P496P|ADCY7_ENST00000537579.1_Intron			P51828	ADCY7_HUMAN	adenylate cyclase 7	496					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	CGGCACGGCCCTTTGCACATC	0.677000													48	68					0	0	0.003610	0	0
KIF1C	10749	broad.mit.edu	37	17	4927149	4927149	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:4927149C>T	ENST00000320785.5	+	23	3372	c.3015C>T	c.(3013-3015)ccC>ccT	p.P1005P		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	1005	Pro-rich.				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						CGCTCCAACCCCCTGAGGAGG	0.687000													36	37					0	0	0.003271	0	0
CHMP2B	25978	broad.mit.edu	37	3	87294927	87294927	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr3:87294927C>T	ENST00000263780.4	+	3	428	c.190C>T	c.(190-192)Caa>Taa	p.Q64*	CHMP2B_ENST00000494980.1_Nonsense_Mutation_p.Q64*|CHMP2B_ENST00000472024.1_3'UTR|CHMP2B_ENST00000471660.1_Nonsense_Mutation_p.Q23*	NM_014043.3	NP_054762.2	Q9UQN3	CHM2B_HUMAN	charged multivesicular body protein 2B	64					cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane|mitochondrion|nucleus	protein domain specific binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	12	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		TTTAGCCAAACAACTTGTGCA	0.313000													28	30					0	0	0.005443	0	0
SNHG14	104472715	broad.mit.edu	37	15	25349764	25349764	+	RNA	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr15:25349764C>T	ENST00000546682.1	+	0	2234				SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA	NR_003361.1																						ATCTCAGGTTCAAAGTCCCTT	0.453000													8	13					0	0	0.006214	0	0
FMO3	2328	broad.mit.edu	37	1	171076868	171076868	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:171076868G>A	ENST00000367755.4	+	4	485	c.374G>A	c.(373-375)tGg>tAg	p.W125*	FMO3_ENST00000538429.1_Nonsense_Mutation_p.W62*|FMO3_ENST00000392085.2_Nonsense_Mutation_p.W125*|FMO3_ENST00000542847.1_Nonsense_Mutation_p.W105*	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	125					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ACTGGCCAGTGGGATGTTACC	0.398000													15	50					0	0	0.004007	0	0
TTN	7273	broad.mit.edu	37	2	179495596	179495596	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:179495596C>T	ENST00000589042.1	-	238	44313	c.44089G>A	c.(44089-44091)Gaa>Aaa	p.E14697K	TTN_ENST00000342175.6_Missense_Mutation_p.E5824K|TTN_ENST00000460472.2_Missense_Mutation_p.E5632K|TTN_ENST00000342992.6_Missense_Mutation_p.E12129K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E5757K|TTN_ENST00000591111.1_Missense_Mutation_p.E13056K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13056	Ig-like 96.						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)			TCAGAGATTTCGGTTTCAAAG	0.493000													35	85					0	0	0.003271	0	0
OR4N5	390437	broad.mit.edu	37	14	20612005	20612005	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr14:20612005C>T	ENST00000333629.1	+	1	111	c.111C>T	c.(109-111)atC>atT	p.I37I		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TCTACCTTATCATCCTCCCTG	0.453000													99	112					0	0	0.003610	0	0
CDH2	1000	broad.mit.edu	37	18	25573486	25573486	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr18:25573486G>A	ENST00000269141.3	-	8	1559	c.1136C>T	c.(1135-1137)cCt>cTt	p.P379L	CDH2_ENST00000399380.3_Missense_Mutation_p.P348L	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	379	Cadherin 2.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AAACTCTGGAGGATTGTCATT	0.448000													129	119					0	0	0.003610	0	0
ALDOB	229	broad.mit.edu	37	9	104192063	104192063	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr9:104192063C>T	ENST00000374855.4	-	3	422	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	ALDOB_ENST00000468981.2_Intron	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	100					fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				ATCCCCTTTTCCTTGAGGATG	0.532000													127	183					0	0	0.003610	0	0
PREX2	80243	broad.mit.edu	37	8	68989633	68989633	+	Splice_Site	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr8:68989633G>A	ENST00000288368.4	+	15	1848	c.1569_splice	c.e15-1	p.G524_splice	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	524	DEP 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GGTTAACAGGGAGATTGCCGC	0.448000													14	63					0	0	0.002450	0	0
FAM86FP	653113	broad.mit.edu	37	12	8386973	8386973	+	RNA	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr12:8386973C>T	ENST00000427893.2	-	0	793																											AGCCAGCCTCCGCAGGACCCC	0.592000													5	51					0	0	0.001984	0	0
THEMIS	387357	broad.mit.edu	37	6	128222009	128222009	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr6:128222009G>A	ENST00000543064.1	-	1	217	c.69C>T	c.(67-69)atC>atT	p.I23I	THEMIS_ENST00000368250.1_5'UTR|THEMIS_ENST00000368248.2_Silent_p.I23I|THEMIS_ENST00000537166.1_Intron	NM_001164685.1	NP_001158157.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	23	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TGCCTGCCTGGATTTCTAGAA	0.448000													52	23					0	0	0.003610	0	0
AGO1	26523	broad.mit.edu	37	1	36367133	36367133	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:36367133C>T	ENST00000373204.4	+	9	1292	c.1079C>T	c.(1078-1080)tCg>tTg	p.S360L	AGO1_ENST00000373206.1_Missense_Mutation_p.S285L	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1																		AACCAGACCTCGACCATGATA	0.527000													24	50					0	0	0.002299	0	0
DNAH5	1767	broad.mit.edu	37	5	13776728	13776728	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr5:13776728G>A	ENST00000265104.4	-	55	9297	c.9193C>T	c.(9193-9195)Cct>Tct	p.P3065S		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3065	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCATTGGTAGGAAGGCACCTG	0.443000									Kartagener syndrome				40	46					0	0	0.007835	0	0
SUN1	23353	broad.mit.edu	37	7	881763	881763	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr7:881763C>T	ENST00000456758.2	+	6	621	c.621C>T	c.(619-621)ttC>ttT	p.F207F	SUN1_ENST00000389574.3_Silent_p.F99F|SUN1_ENST00000405266.1_Silent_p.F149F|SUN1_ENST00000403868.1_Silent_p.F149F|SUN1_ENST00000401592.1_Silent_p.F149F|SUN1_ENST00000457378.2_Silent_p.F170F|SUN1_ENST00000452783.2_Silent_p.F149F|SUN1_ENST00000425407.2_Silent_p.F99F			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	149					cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGGACCACTTCTGGGGTGAGT	0.587000													23	15					0	0	0.004656	0	0
CACNA1H	8912	broad.mit.edu	37	16	1260630	1260630	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr16:1260630C>T	ENST00000348261.5	+	20	4265	c.4017C>T	c.(4015-4017)ttC>ttT	p.F1339F	CACNA1H_ENST00000358590.4_Silent_p.F1339F|CACNA1H_ENST00000565831.1_Silent_p.F1339F	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1339					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CGGCCATCTTCGTGGCGGAGA	0.677000													14	23					0	0	0.004990	0	0
ATP2B2	491	broad.mit.edu	37	3	10417121	10417121	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr3:10417121G>A	ENST00000397077.1	-	10	1849	c.1274C>T	c.(1273-1275)tCg>tTg	p.S425L	ATP2B2_ENST00000383800.4_Missense_Mutation_p.S425L|ATP2B2_ENST00000360273.2_Missense_Mutation_p.S470L|ATP2B2_ENST00000343816.4_Missense_Mutation_p.S456L|ATP2B2_ENST00000352432.4_Missense_Mutation_p.S470L			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	470					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CACCTTCACCGAATAGGCCAA	0.627000													19	55					0	0	0.007413	0	0
VGLL1	51442	broad.mit.edu	37	X	135631094	135631094	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:135631094G>A	ENST00000370634.3	+	3	731	c.561G>A	c.(559-561)agG>agA	p.R187R		NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN	vestigial like 1 (Drosophila)	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					CTGCCGCCAGGGAGAATGGCA	0.567000													64	70					0	0	0.003610	0	0
ZBED1	9189	broad.mit.edu	37	X	2406965	2406965	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:2406965G>A	ENST00000381223.4	-	2	1999	c.1796C>T	c.(1795-1797)cCc>cTc	p.P599L	DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381218.3_Missense_Mutation_p.P599L|ZBED1_ENST00000381222.2_Missense_Mutation_p.P599L|RP11-325D5.3_ENST00000515319.1_RNA	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	599						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGGCAGCAGGGGGAAGAGGGC	0.652000													50	141					0	0	0.003610	0	0
FAM86DP	692099	broad.mit.edu	37	3	75471326	75471326	+	RNA	SNP	C	C	G			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr3:75471326C>G	ENST00000459803.1	-	0	1815					NR_024241.1																						CCCCAGGGCCCCTGCTGTCCT	0.597000													6	32					0	0	0.001984	0	0
GAS2L2	246176	broad.mit.edu	37	17	34072167	34072167	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:34072167C>T	ENST00000254466.6	-	6	2376	c.2349G>A	c.(2347-2349)cgG>cgA	p.R783R	GAS2L2_ENST00000587565.1_Silent_p.R767R	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	783					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGTGGTCTCTCCGGGGCCGAA	0.612000													46	149					0	0	0.003610	0	0
DRGX	644168	broad.mit.edu	37	10	50594829	50594829	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr10:50594829C>T	ENST00000374139.2	-	4	320	c.310G>A	c.(310-312)Gag>Aag	p.E104K	DRGX_ENST00000434016.1_Missense_Mutation_p.E109K			C9JW76	C9JW76_HUMAN	dorsal root ganglia homeobox	109					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						GCCATGGGCTCCTTGGCTCCT	0.592000													74	26					0	0	0.003610	0	0
DOCK3	1795	broad.mit.edu	37	3	51352435	51352435	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr3:51352435C>T	ENST00000266037.9	+	32	3301	c.3278C>T	c.(3277-3279)cCg>cTg	p.P1093L		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1093						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CACTTTATTCCGGGAATGATT	0.453000													5	15					0	0	0.001168	0	0
HCFC1	3054	broad.mit.edu	37	X	153218265	153218265	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:153218265C>T	ENST00000310441.7	-	19	5608	c.4642G>A	c.(4642-4644)Gat>Aat	p.D1548N	HCFC1_ENST00000369984.4_Missense_Mutation_p.D1592N|HCFC1_ENST00000354233.3_Missense_Mutation_p.D1479N	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	1548					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGCTCAGATCCACGGCGGCC	0.697000											OREG0003630	type=REGULATORY REGION|Gene=BC010606|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	10	11					0	0	0.006214	0	0
DMXL2	23312	broad.mit.edu	37	15	51772994	51772994	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr15:51772994G>A	ENST00000251076.5	-	24	6596	c.6309C>T	c.(6307-6309)tcC>tcT	p.S2103S	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Silent_p.S2103S|DMXL2_ENST00000449909.3_Silent_p.S1467S	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2103						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TCTCTACTTTGGAATATGTCT	0.378000													52	56					0	0	0.003610	0	0
IQGAP2	10788	broad.mit.edu	37	5	75866439	75866439	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr5:75866439C>T	ENST00000274364.6	+	4	635	c.338C>T	c.(337-339)aCc>aTc	p.T113I	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	113	CH.				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		ACAGATAATACCGTCCAGTGG	0.443000													47	42					0	0	0.003610	0	0
MYO18B	84700	broad.mit.edu	37	22	26423393	26423393	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr22:26423393C>T	ENST00000335473.7	+	43	7703	c.7453C>T	c.(7453-7455)Ctc>Ttc	p.L2485F	MYO18B_ENST00000407587.2_Missense_Mutation_p.L2486F|MYO18B_ENST00000536101.1_Missense_Mutation_p.L2485F	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2485						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCGTTCCTTTCTCTCGGGGAT	0.557000													24	5					0	0	0.002299	0	0
HNRNPL	3191	broad.mit.edu	37	19	39334494	39334494	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:39334494G>A	ENST00000221419.5	-	6	1234	c.868C>T	c.(868-870)Ctc>Ttc	p.L290F	HNRNPL_ENST00000600873.1_Missense_Mutation_p.L157F	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	290					nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			TGTCCACTGAGATTGGGGTTT	0.473000													49	38					0	0	0.003610	0	0
PDCD11	22984	broad.mit.edu	37	10	105173056	105173056	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr10:105173056G>A	ENST00000369797.3	+	9	1256	c.1162G>A	c.(1162-1164)Gat>Aat	p.D388N		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	388	S1 motif 4.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TAGGCTGAAGGATGGGGTTCT	0.547000													25	7					0	0	0.004656	0	0
NEBL	10529	broad.mit.edu	37	10	21097567	21097567	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr10:21097567C>T	ENST00000377122.4	-	26	3029	c.2633G>A	c.(2632-2634)cGa>cAa	p.R878Q	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	878	Linker.				regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AGACCAGTGTCGCCTATAGTG	0.413000													51	31					0	0	0.003610	0	0
AFM	173	broad.mit.edu	37	4	74354467	74354467	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr4:74354467C>T	ENST00000226355.3	+	7	927	c.834C>T	c.(832-834)atC>atT	p.I278I		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	278	Albumin 2.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGCAGTGCATCCGTGACACGG	0.358000													27	40					0	0	0.005443	0	0
ADAM21	8747	broad.mit.edu	37	14	70924754	70924754	+	Missense_Mutation	SNP	G	G	A	rs143022031	byFrequency	TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr14:70924754G>A	ENST00000603540.1	+	2	796	c.538G>A	c.(538-540)Gta>Ata	p.V180I	ADAM21_ENST00000267499.3_Missense_Mutation_p.V180I|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	180					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		AGAGAAGGAAGTAGCACGCCA	0.458000													7	58					0	0	0.001984	0	0
CLCN4	1183	broad.mit.edu	37	X	10181826	10181826	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:10181826G>A	ENST00000380833.4	+	11	2073	c.1682G>A	c.(1681-1683)tGg>tAg	p.W561*	CLCN4_ENST00000421085.2_Nonsense_Mutation_p.W467*|CLCN4_ENST00000380829.1_Nonsense_Mutation_p.W530*	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	561						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ACCAGCAAGTGGGTAGCTGAT	0.527000													24	71					0	0	0.006320	0	0
KLHL4	56062	broad.mit.edu	37	X	86890621	86890621	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:86890621G>A	ENST00000373119.4	+	9	1916	c.1771G>A	c.(1771-1773)Gac>Aac	p.D591N	KLHL4_ENST00000373114.4_Missense_Mutation_p.D591N	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	591						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						GGAATACTTTGACCCACACAC	0.413000													13	43					0	0	0.001368	0	0
DEFB119	245932	broad.mit.edu	37	20	29965096	29965096	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr20:29965096C>T	ENST00000376321.3	-	2	327	c.208G>A	c.(208-210)Gaa>Aaa	p.E70K	DEFB119_ENST00000492344.1_5'UTR|DEFB119_ENST00000339144.3_3'UTR	NM_153289.2	NP_695021.2	Q8N690	DB119_HUMAN	defensin, beta 119	70					defense response to bacterium	extracellular region				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TCGGTATTTTCCTCTTTGCCA	0.488000													63	53					0	0	0.003610	0	0
C8B	732	broad.mit.edu	37	1	57420480	57420480	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:57420480G>A	ENST00000543257.1	-	5	822	c.256C>T	c.(256-258)Ctt>Ttt	p.L86F	C8B_ENST00000371237.4_Missense_Mutation_p.L138F|C8B_ENST00000535057.1_Missense_Mutation_p.L76F	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	138	TSP type-1 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TTGCAAAGAAGTCTGCGGTTT	0.428000													18	54					0	0	0.008871	0	0
ABCC4	10257	broad.mit.edu	37	13	95813473	95813473	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr13:95813473G>A	ENST00000376887.4	-	19	2539	c.2425C>T	c.(2425-2427)Ccg>Tcg	p.P809S	ABCC4_ENST00000412704.1_Missense_Mutation_p.P762S|ABCC4_ENST00000536256.1_Missense_Mutation_p.P734S|ABCC4_ENST00000431522.1_Missense_Mutation_p.P809S	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	809	ABC transmembrane type-1 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	AATAATACCGGAGCTTTCAGA	0.348000													25	15					0	0	0.004656	0	0
ASXL3	80816	broad.mit.edu	37	18	31326518	31326518	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr18:31326518G>A	ENST00000269197.5	+	12	6706	c.6706G>A	c.(6706-6708)Ggt>Agt	p.G2236S		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	2236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CGACTGCATAGGTCCTTCAAA	0.478000													51	33					0	0	0.003610	0	0
NR1D2	9975	broad.mit.edu	37	3	24001236	24001236	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr3:24001236G>T	ENST00000312521.4	+	4	766	c.447G>T	c.(445-447)atG>atT	p.M149I	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117.3	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	149					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						GTTCTATAATGAGAATGAATA	0.368000													21	61					1.15919e-05	2.02858e-05	0.008871	1	0
SELPLG	6404	broad.mit.edu	37	12	109017681	109017681	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr12:109017681G>A	ENST00000550948.1	-	2	627	c.403C>T	c.(403-405)Caa>Taa	p.Q135*	SELPLG_ENST00000388962.3_Intron|SELPLG_ENST00000228463.6_Nonsense_Mutation_p.Q151*			Q14242	SELPL_HUMAN	selectin P ligand	135	12 X 10 AA tandem repeats.		Missing (in short form; not an alternative splicing; dbSNP:rs63748999).		blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						GGCACTGGTTGAGTGGTCTGT	0.617000													32	98					0	0	0.003271	0	0
BSN	8927	broad.mit.edu	37	3	49698954	49698954	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr3:49698954A>T	ENST00000296452.4	+	6	9790	c.9676A>T	c.(9676-9678)Aac>Tac	p.N3226Y		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3226					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TCTGGAGCAGAACGTTCCTCG	0.592000													32	81					0	0	0.002445	0	0
SETD1A	9739	broad.mit.edu	37	16	30977153	30977153	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr16:30977153C>T	ENST00000262519.8	+	8	2637	c.1951C>T	c.(1951-1953)Cca>Tca	p.P651S		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	651	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CCCACCTCCTCCACCACCCCC	0.627000													27	52					0	0	0.005443	0	0
ZNF556	80032	broad.mit.edu	37	19	2877606	2877606	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:2877606C>T	ENST00000586426.1	+	4	734	c.647C>T	c.(646-648)tCt>tTt	p.S216F	ZNF556_ENST00000307635.2_Missense_Mutation_p.S217F			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTTCCCACTCTCTCACTGAA	0.498000													44	18					0	0	0.002222	0	0
TFCP2L1	29842	broad.mit.edu	37	2	121989453	121989453	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:121989453G>A	ENST00000263707.5	-	13	1387	c.1290C>T	c.(1288-1290)caC>caT	p.H430H		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	430					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					GGTAGACTCGGTGGATGTGCT	0.637000													21	62					0	0	0.008871	0	0
POU5F1B	5462	broad.mit.edu	37	8	128428248	128428248	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr8:128428248G>A	ENST00000465342.2	+	2	1294	c.137G>A	c.(136-138)gGa>gAa	p.G46E	CASC8_ENST00000501396.1_RNA|POU5F1B_ENST00000391675.1_Missense_Mutation_p.G46E|CASC8_ENST00000523825.1_RNA|CASC8_ENST00000502082.1_RNA			Q06416	P5F1B_HUMAN	POU class 5 homeobox 1B	46						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|prostate(1)|urinary_tract(1)	3						GGAGGGCCAGGAATCGGGCCG	0.692000													8	2					0	0	0.000978	0	0
DOCK10	55619	broad.mit.edu	37	2	225740795	225740795	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:225740795G>A	ENST00000409592.3	-	8	986	c.873C>T	c.(871-873)ctC>ctT	p.L291L	DOCK10_ENST00000258390.7_Silent_p.L297L			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	297							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TCCTCCCTTGGAGGGGCCCCT	0.512000													21	72					0	0	0.002299	0	0
THRB	7068	broad.mit.edu	37	3	24188267	24188267	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr3:24188267G>A	ENST00000396671.2	-	7	779	c.431C>T	c.(430-432)tCc>tTc	p.S144F	THRB_ENST00000356447.4_Missense_Mutation_p.S144F|THRB_ENST00000280696.5_Missense_Mutation_p.S159F|THRB_ENST00000416420.1_Missense_Mutation_p.S144F	NM_001128176.2	NP_001121648.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	144					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	ATATTTACAGGAATAGGATGG	0.363000													14	52					0	0	0.002450	0	0
PCDH18	54510	broad.mit.edu	37	4	138451538	138451538	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr4:138451538C>T	ENST00000344876.4	-	1	2091	c.1705G>A	c.(1705-1707)Gaa>Aaa	p.E569K	PCDH18_ENST00000412923.2_Missense_Mutation_p.E569K|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.E349K	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	569	Cadherin 5.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TTGTCATTTTCGTCAATGATG	0.458000													53	90					0	0	0.003610	0	0
POF1B	79983	broad.mit.edu	37	X	84586003	84586003	+	Missense_Mutation	SNP	G	G	A	rs148186919	by1000genomes	TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:84586003G>A	ENST00000262753.4	-	7	951	c.806C>T	c.(805-807)aCg>aTg	p.T269M	POF1B_ENST00000373145.3_Missense_Mutation_p.T269M	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	269							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						ATATAGATCCGTATTCTTACG	0.383000													30	19					0	0	0.008361	0	0
C5	727	broad.mit.edu	37	9	123742514	123742514	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr9:123742514T>C	ENST00000223642.1	-	28	3534	c.3505A>G	c.(3505-3507)Att>Gtt	p.I1169V		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1169					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TCAGCTTTAATTAGAGCTGTG	0.413000													24	43					0	0	0.005443	0	0
WTIP	126374	broad.mit.edu	37	19	34983992	34983992	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:34983992T>G	ENST00000590071.2	+	3	1157	c.820T>G	c.(820-822)Tgc>Ggc	p.C274G	WTIP_ENST00000270288.6_Missense_Mutation_p.C498G	NM_001080436.1	NP_001073905.1			Wilms tumor 1 interacting protein											NS(1)|large_intestine(2)|lung(1)	4	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GAAAGTGTACTGCCAGGAGGA	0.627000													52	59					0	0	0.003610	0	0
ATP4B	496	broad.mit.edu	37	13	114307750	114307750	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr13:114307750C>T	ENST00000335288.4	-	3	283		c.e3-1			NM_000705.3	NP_000696.1	P51164	ATP4B_HUMAN	ATPase, H+/K+ exchanging, beta polypeptide						ATP biosynthetic process	integral to membrane|plasma membrane	hydrogen:potassium-exchanging ATPase activity|sodium:potassium-exchanging ATPase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.171)		Rabeprazole(DB01129)	AAGGTTACCCCTGGAGAGAGA	0.522000													30	38					0	0	0.008361	0	0
SERTM1	400120	broad.mit.edu	37	13	37269359	37269359	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr13:37269359C>T	ENST00000315190.3	+	2	590	c.144C>T	c.(142-144)ttC>ttT	p.F48F		NM_203451.2	NP_982276.2	A2A2V5	CM036_HUMAN	serine-rich and transmembrane domain containing 1	48						integral to membrane											TGTCCATATTCCTCAGCCTTT	0.478000													92	96					0	0	0.003610	0	0
SCML2	10389	broad.mit.edu	37	X	18264864	18264864	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:18264864C>T	ENST00000251900.4	-	13	1814	c.1655G>A	c.(1654-1656)gGa>gAa	p.G552E	SCML2_ENST00000398048.3_Missense_Mutation_p.G288E	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	552					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					CAAATAATTTCCTGAATTTAG	0.418000													91	88					0	0	0.003610	0	0
EMD	2010	broad.mit.edu	37	X	153609333	153609333	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:153609333T>A	ENST00000369842.4	+	6	829	c.541T>A	c.(541-543)Tat>Aat	p.Y181N	EMD_ENST00000369835.3_Missense_Mutation_p.Y146N|EMD_ENST00000492448.1_3'UTR	NM_000117.2	NP_000108.1	P50402	EMD_HUMAN	emerin	181	Interaction with CTNNB1.|Interaction with F-actin (Probable).				cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway	endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane	actin binding|beta-tubulin binding			lung(5)	5	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGACCTGTCCTATTATCCTAC	0.587000													41	45					0	0	0.006230	0	0
SAA2	6289	broad.mit.edu	37	11	18269549	18269549	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr11:18269549G>A	ENST00000414546.2	-	2	54	c.10C>T	c.(10-12)Ctc>Ttc	p.L4F	SAA2_ENST00000256733.4_Missense_Mutation_p.L4F|SAA2_ENST00000528349.1_Missense_Mutation_p.L4F|SAA2_ENST00000529528.1_Missense_Mutation_p.L4F|SAA2-SAA4_ENST00000524555.1_RNA|SAA2_ENST00000530400.1_Missense_Mutation_p.L4F|SAA2_ENST00000526900.1_Missense_Mutation_p.L4F	NM_001127380.2	NP_001120852.1			serum amyloid A2											central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(1)	6						AGGCCCGTGAGAAGCTTCATG	0.512000													4	47					0	0	0.000602	0	0
ACADM	34	broad.mit.edu	37	1	76226820	76226820	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:76226820C>T	ENST00000370841.4	+	11	1396	c.959C>T	c.(958-960)tCa>tTa	p.S320L	ACADM_ENST00000370834.5_Missense_Mutation_p.S353L|ACADM_ENST00000481374.1_3'UTR|ACADM_ENST00000420607.2_Missense_Mutation_p.S324L|ACADM_ENST00000543667.1_Missense_Mutation_p.S131L|ACADM_ENST00000541113.1_Missense_Mutation_p.S284L	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	320					carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18						CAAGCAATATCATTTATGCTG	0.338000													12	15					0	0	0.000978	0	0
ZCCHC4	29063	broad.mit.edu	37	4	25314461	25314461	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr4:25314461C>T	ENST00000302874.4	+	1	54	c.30C>T	c.(28-30)gcC>gcT	p.A10A	ZCCHC4_ENST00000505451.1_3'UTR	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	10							methyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				GGTTTGAAGCCGTGGAGGCAG	0.652000											OREG0016141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	60	84					0	0	0.003610	0	0
BAZ2B	29994	broad.mit.edu	37	2	160231216	160231216	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:160231216C>T	ENST00000392783.2	-	26	4549	c.4054G>A	c.(4054-4056)Gaa>Aaa	p.E1352K	BAZ2B_ENST00000392782.1_Missense_Mutation_p.E1316K|BAZ2B_ENST00000343439.5_Missense_Mutation_p.E1252K|BAZ2B_ENST00000355831.2_Missense_Mutation_p.E1318K	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CTCAGTTTTTCAATCTGTTTT	0.313000													15	18					0	0	0.004007	0	0
A2ML1	144568	broad.mit.edu	37	12	8994058	8994058	+	Missense_Mutation	SNP	G	G	A	rs74443529		TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr12:8994058G>A	ENST00000299698.7	+	11	1354	c.1174G>A	c.(1174-1176)Gtt>Att	p.V392I		NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	236						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CCAGACCCTGGTTACTGATAA	0.488000													50	39					0	0	0.003610	0	0
KCNJ9	3765	broad.mit.edu	37	1	160054431	160054431	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:160054431C>T	ENST00000368088.3	+	2	853	c.611C>T	c.(610-612)tCc>tTc	p.S204F		NM_004983.2	NP_004974.2	Q92806	IRK9_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 9	204					synaptic transmission	integral to membrane|plasma membrane	G-protein activated inward rectifier potassium channel activity|protein binding			biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GTGGAGGCCTCCATCCGCGCC	0.677000													12	8					0	0	0.000978	0	0
SLC44A5	204962	broad.mit.edu	37	1	75707705	75707705	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:75707705C>T	ENST00000370855.5	-	9	626	c.513G>A	c.(511-513)gcG>gcA	p.A171A	SLC44A5_ENST00000370859.3_Silent_p.A171A|SLC44A5_ENST00000535611.1_Silent_p.A41A	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	171						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TGGGAAAAATCGCTGTTGGAC	0.353000													16	46					0	0	0.006122	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144075892	144075892	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr7:144075892C>T	ENST00000056217.5	+	14	4743	c.4569C>T	c.(4567-4569)ccC>ccT	p.P1523P	ARHGEF5_ENST00000471847.2_Silent_p.P445P	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	1523	SH3.				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					CCTACAAGCCCCGAGAGAATG	0.567000													36	124					0	0	0.008740	0	0
DPYS	1807	broad.mit.edu	37	8	105459605	105459605	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr8:105459605C>T	ENST00000351513.2	-	3	682	c.550G>A	c.(550-552)Gaa>Aaa	p.E184K		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	184					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GCTCCAATTTCCTTGCACCGA	0.443000													12	44					0	0	0.001855	0	0
CYTH2	9266	broad.mit.edu	37	19	48977504	48977504	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:48977504C>T	ENST00000427476.1	+	7	913	c.613C>T	c.(613-615)Cgg>Tgg	p.R205W	CYTH2_ENST00000452733.2_Missense_Mutation_p.R205W	NM_004228.6|NM_017457.5	NP_004219.3|NP_059431.1	Q99418	CYH2_HUMAN	cytohesin 2	205					actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						TCCCAATGTCCGGGACAAGCC	0.637000													39	52					0	0	0.002222	0	0
OR52L1	338751	broad.mit.edu	37	11	6007408	6007408	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr11:6007408G>A	ENST00000332249.4	-	1	807	c.753C>T	c.(751-753)gcC>gcT	p.A251A		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTTAAGTCGGGCCTCACTCC	0.512000													64	29					0	0	0.003610	0	0
SAMD9L	219285	broad.mit.edu	37	7	92762252	92762252	+	Silent	SNP	A	A	G			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr7:92762252A>G	ENST00000318238.4	-	5	4249	c.3033T>C	c.(3031-3033)atT>atC	p.I1011I	SAMD9L_ENST00000411955.1_Silent_p.I1011I|SAMD9L_ENST00000437805.1_Silent_p.I1011I	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1011										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TATTCAATGCAATTTGACATT	0.363000													26	51					0	0	0.003330	0	0
SLITRK6	84189	broad.mit.edu	37	13	86369802	86369802	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr13:86369802C>T	ENST00000400286.2	-	2	1440	c.842G>A	c.(841-843)gGa>gAa	p.G281E		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	281						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		ATGTAATGATCCTGAAGGATC	0.403000													17	79					0	0	0.004007	0	0
CCDC102B	79839	broad.mit.edu	37	18	66542000	66542000	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr18:66542000T>G	ENST00000360242.5	+	5	1148	c.1031T>G	c.(1030-1032)gTg>gGg	p.V344G	CCDC102B_ENST00000584156.1_Missense_Mutation_p.V344G|CCDC102B_ENST00000319445.6_Missense_Mutation_p.V344G|CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000358653.5_Missense_Mutation_p.V344G	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	344										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				AAAGACAGAGTGATTTGTGAG	0.338000													27	16					0	0	0.001786	0	0
DSC3	1825	broad.mit.edu	37	18	28610971	28610971	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr18:28610971C>T	ENST00000434452.1	-	3	476	c.322G>A	c.(322-324)Gag>Aag	p.E108K	DSC3_ENST00000360428.4_Missense_Mutation_p.E108K	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	108					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			ACAGTAACCTCTTTCTGTGTC	0.343000													23	32					0	0	0.008361	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69327576	69327576	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr4:69327576G>A	ENST00000305363.4	+	2	113	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	17					proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						AGTTTGTTGGGAACCCTGGGT	0.418000													103	155					0	0	0.003610	0	0
TACR1	6869	broad.mit.edu	37	2	75426023	75426023	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:75426023G>A	ENST00000305249.4	-	1	803	c.38C>T	c.(37-39)cCa>cTa	p.P13L	TACR1_ENST00000409848.3_Missense_Mutation_p.P13L	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	13					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	GGAGATGTTTGGGGAGAGGTC	0.542000													10	29					0	0	0.008291	0	0
JMJD4	65094	broad.mit.edu	37	1	227921165	227921165	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:227921165C>T	ENST00000366758.3	-	4	909	c.910G>A	c.(910-912)Ggc>Agc	p.G304S	SNAP47_ENST00000366760.1_Intron|JMJD4_ENST00000438896.2_Missense_Mutation_p.G304S|JMJD4_ENST00000485807.1_5'UTR|SNAP47_ENST00000480897.1_3'UTR	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4	304	JmjC.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				ACCATCTCGCCCGCTTCCTGC	0.622000													33	24					0	0	0.003755	0	0
OR52J3	119679	broad.mit.edu	37	11	5067811	5067811	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr11:5067811T>C	ENST00000380370.1	+	1	56	c.56T>C	c.(55-57)aTc>aCc	p.I19T		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTCATTGGAATCCCAGGTCTG	0.453000													38	12					0	0	0.003610	0	0
CXorf67	340602	broad.mit.edu	37	X	51150748	51150748	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:51150748G>A	ENST00000342995.2	+	1	982	c.880G>A	c.(880-882)Gat>Aat	p.D294N						chromosome X open reading frame 67											breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						CCGAGGCCGCGATTCTGCGCC	0.746000													16	13					0	0	0.004007	0	0
TTLL12	23170	broad.mit.edu	37	22	43575962	43575962	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr22:43575962G>A	ENST00000216129.6	-	4	654	c.591C>T	c.(589-591)ttC>ttT	p.F197F		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	197					protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				TCCGCGAACCGAACTCGTCCA	0.622000													49	18					0	0	0.003610	0	0
KIAA1462	57608	broad.mit.edu	37	10	30315473	30315473	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr10:30315473C>T	ENST00000375377.1	-	3	3705	c.3604G>A	c.(3604-3606)Gaa>Aaa	p.E1202K		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	1202										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TCCTTTTGTTCGAAGAACTTG	0.512000													120	51					0	0	0.003610	0	0
POGLUT1	56983	broad.mit.edu	37	3	119190234	119190234	+	Silent	SNP	A	A	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr3:119190234A>T	ENST00000295588.4	+	3	339	c.255A>T	c.(253-255)ctA>ctT	p.L85L		NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1	85						endoplasmic reticulum lumen	UDP-glucosyltransferase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						GACGGAAGCTAGGGACCCACT	0.468000													78	55					0	0	0.003610	0	0
LAMA2	3908	broad.mit.edu	37	6	129636770	129636770	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr6:129636770G>A	ENST00000421865.2	+	25	3754	c.3705G>A	c.(3703-3705)tgG>tgA	p.W1235*		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1235	Laminin IV type A 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CTTTTTATTGGAAACTTCCAG	0.388000													39	16					0	0	0.002852	0	0
EDAR	10913	broad.mit.edu	37	2	109526934	109526934	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:109526934G>A	ENST00000409271.1	-	9	1324	c.881C>T	c.(880-882)cCa>cTa	p.P294L	EDAR_ENST00000258443.2_Missense_Mutation_p.P262L|EDAR_ENST00000376651.1_Missense_Mutation_p.P294L			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	262					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						GGGCTTTGCTGGAGTTGCTGT	0.557000													28	19					0	0	0.008361	0	0
WASL	8976	broad.mit.edu	37	7	123334878	123334878	+	Silent	SNP	A	A	G			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr7:123334878A>G	ENST00000223023.4	-	8	1049	c.717T>C	c.(715-717)tgT>tgC	p.C239C		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	239					actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTGAGATTCCACACATATCGA	0.299000													40	158					0	0	0.002522	0	0
TM2D1	83941	broad.mit.edu	37	1	62190821	62190821	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:62190821C>T	ENST00000371180.2	-	1	274	c.158G>A	c.(157-159)gGa>gAa	p.G53E	TM2D1_ENST00000294613.5_5'UTR	NM_032027.2	NP_114416.1	Q9BX74	TM2D1_HUMAN	TM2 domain containing 1	0					apoptosis					large_intestine(2)|lung(3)|ovary(1)	6						CTCGCCACTTCCGCTTCCGCC	0.647000													26	31					0	0	0.004656	0	0
GLRB	2743	broad.mit.edu	37	4	158074155	158074155	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr4:158074155C>T	ENST00000264428.4	+	9	1460	c.1190C>T	c.(1189-1191)aCt>aTt	p.T397I	GLRB_ENST00000512619.1_Intron|GLRB_ENST00000541722.1_Intron|GLRB_ENST00000509282.1_Missense_Mutation_p.T397I	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	397					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	CATATTAGCACTTTGCAGGTA	0.408000													7	8					0	0	0.001984	0	0
ANK3	288	broad.mit.edu	37	10	61835611	61835611	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr10:61835611C>T	ENST00000280772.1	-	37	5219	c.5028G>A	c.(5026-5028)aaG>aaA	p.K1676K	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1676	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ACACCACTGACTTTAAAGGTG	0.413000													42	14					0	0	0.003610	0	0
CCNJL	79616	broad.mit.edu	37	5	159686747	159686747	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr5:159686747G>A	ENST00000393977.3	-	5	741	c.456C>T	c.(454-456)ccC>ccT	p.P152P	CCNJL_ENST00000541762.1_Silent_p.P103P|CCNJL_ENST00000377503.2_5'UTR|CCNJL_ENST00000519673.1_Silent_p.P104P|CCNJL_ENST00000257536.7_Silent_p.P104P	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	152	Cyclin N-terminal.					nucleus				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCTCCAACTTGGGGACGTGGT	0.567000													23	66					0	0	0.003330	0	0
NPAP1	23742	broad.mit.edu	37	15	24921168	24921168	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr15:24921168C>T	ENST00000329468.2	+	1	628	c.154C>T	c.(154-156)Cgc>Tgc	p.R52C		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CGGCCTGTTCCGCCGGAACGC	0.751000													14	50					0	0	0.004007	0	0
SULF1	23213	broad.mit.edu	37	8	70513987	70513987	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr8:70513987G>A	ENST00000260128.4	+	10	1701	c.984G>A	c.(982-984)aaG>aaA	p.K328K	SULF1_ENST00000458141.2_Silent_p.K328K|SULF1_ENST00000419716.3_Silent_p.K328K|SULF1_ENST00000402687.4_Silent_p.K328K|SULF1_ENST00000521946.1_3'UTR	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	328					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GACTGGTCAAGGGGAAATCCA	0.448000													48	126					0	0	0.003610	0	0
NOD2	64127	broad.mit.edu	37	16	50744993	50744993	+	Missense_Mutation	SNP	C	C	T	rs104895481		TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr16:50744993C>T	ENST00000300589.2	+	4	1276	c.1171C>T	c.(1171-1173)Cgt>Tgt	p.R391C		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	391	NACHT.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GTTCACGGATCGTGAACGCCA	0.547000													48	54					0	0	0.003610	0	0
CSAG1	158511	broad.mit.edu	37	X	151908889	151908889	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:151908889C>T	ENST00000370291.2	+	4	408	c.128C>T	c.(127-129)tCc>tTc	p.S43F	CSAG1_ENST00000452779.2_Missense_Mutation_p.S43F|CSAG1_ENST00000370287.3_Missense_Mutation_p.S43F			Q6PB30	CSAG1_HUMAN	chondrosarcoma associated gene 1	43										central_nervous_system(1)|kidney(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					CCACGAGCCTCCAGCCCATTT	0.562000													68	199					0	0	0.003610	0	0
CCR7	1236	broad.mit.edu	37	17	38711855	38711855	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:38711855C>T	ENST00000246657.2	-	3	338	c.276G>A	c.(274-276)atG>atA	p.M92I	CCR7_ENST00000579344.1_Missense_Mutation_p.M86I	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	92					cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				AGGTATCGGTCATGGTCTTGA	0.552000													66	43					0	0	0.003610	0	0
ZDHHC21	340481	broad.mit.edu	37	9	14639895	14639895	+	Splice_Site	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr9:14639895G>A	ENST00000380916.3	-	8	1086	c.621_splice	c.e8+1	p.T207_splice		NM_178566.4	NP_848661.1	Q8IVQ6	ZDH21_HUMAN	zinc finger, DHHC-type containing 21	207					nitric oxide metabolic process|regulation of nitric-oxide synthase activity	Golgi membrane|integral to membrane	palmitoyltransferase activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(2)|skin(1)	9				GBM - Glioblastoma multiforme(50;4.31e-06)		TATACTTACTGTGATGATGCC	0.299000													20	10					0	0	0.001523	0	0
SLC39A5	283375	broad.mit.edu	37	12	56626590	56626590	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr12:56626590G>A	ENST00000266980.4	+	3	698	c.405G>A	c.(403-405)tcG>tcA	p.S135S	SLC39A5_ENST00000454355.2_Silent_p.S135S	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	135					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CAGCCCCCTCGGGCCTGGACC	0.617000													23	30					0	0	0.003954	0	0
ARHGAP19-SLIT1	100533184	broad.mit.edu	37	10	99003878	99003878	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr10:99003878G>A	ENST00000453547.2	-	8	1031	c.1032C>T	c.(1030-1032)tcC>tcT	p.S344S	ARHGAP19_ENST00000487035.1_5'UTR|ARHGAP19-SLIT1_ENST00000316676.8_Silent_p.S344S|ARHGAP19-SLIT1_ENST00000358308.3_Silent_p.S315S|ARHGAP19_ENST00000355366.5_Silent_p.S335S|ARHGAP19_ENST00000358531.4_Silent_p.S344S|ARHGAP19_ENST00000371027.1_Silent_p.S335S																							CCAGCTGAAAGGACTTAGTAT	0.448000													21	43					0	0	0.002299	0	0
RASGRP1	10125	broad.mit.edu	37	15	38792333	38792333	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr15:38792333C>T	ENST00000310803.5	-	14	1868	c.1691G>A	c.(1690-1692)gGa>gAa	p.G564E	RASGRP1_ENST00000558164.1_Missense_Mutation_p.G529E|RASGRP1_ENST00000450598.2_Missense_Mutation_p.G529E|RASGRP1_ENST00000559830.1_Missense_Mutation_p.G529E|RASGRP1_ENST00000539159.1_Missense_Mutation_p.G516E|RASGRP1_ENST00000561180.1_Missense_Mutation_p.G615E	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	564					cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		TTTGATCACTCCCCAGAGCTA	0.413000													33	120					0	0	0.004878	0	0
PDE1C	5137	broad.mit.edu	37	7	31862790	31862790	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr7:31862790C>T	ENST00000396184.3	-	15	1683	c.1479G>A	c.(1477-1479)ccG>ccA	p.P493P	PDE1C_ENST00000396182.2_Silent_p.P493P|PDE1C_ENST00000396193.1_Silent_p.P553P|PDE1C_ENST00000321453.7_Silent_p.P493P|PDE1C_ENST00000396191.1_Silent_p.P493P	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	493	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			AATTGTTGATCGGGGCACTTC	0.468000													21	67					0	0	0.001523	0	0
FRG1B	284802	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr20:29625941A>T	ENST00000278882.3	+	5	565	c.185A>T	c.(184-186)gAt>gTt	p.D62V	FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V														p.D62V(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333000													5	74					0	0	0.000602	0	0
MCHR2	84539	broad.mit.edu	37	6	100368907	100368907	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr6:100368907C>T	ENST00000281806.2	-	6	1246	c.932G>A	c.(931-933)gGa>gAa	p.G311E	MCHR2_ENST00000445970.1_Missense_Mutation_p.G311E|MCHR2_ENST00000369212.1_Missense_Mutation_p.G311E	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	311						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		CTGGAAATTTCCACTCAGCAG	0.443000													52	94					0	0	0.003610	0	0
NLRP12	91662	broad.mit.edu	37	19	54313652	54313652	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:54313652C>T	ENST00000324134.6	-	3	1429	c.1261G>A	c.(1261-1263)Ggg>Agg	p.G421R	NLRP12_ENST00000391775.3_Missense_Mutation_p.G421R|NLRP12_ENST00000391772.1_Missense_Mutation_p.G421R|NLRP12_ENST00000535162.1_Missense_Mutation_p.G421R|NLRP12_ENST00000354278.3_Missense_Mutation_p.G421R|NLRP12_ENST00000351894.4_Missense_Mutation_p.G421R|NLRP12_ENST00000345770.5_Missense_Mutation_p.G421R|NLRP12_ENST00000391773.1_Missense_Mutation_p.G421R	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	421	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AACAGCCCCCCACCCTCCAGC	0.622000													81	85					0	0	0.003610	0	0
TRIM31	11074	broad.mit.edu	37	6	30071529	30071529	+	Silent	SNP	A	A	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr6:30071529A>T	ENST00000376734.3	-	9	1187	c.1062T>A	c.(1060-1062)tcT>tcA	p.S354S	TRIM31_ENST00000540829.1_Silent_p.S354S	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31	354						mitochondrion	ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						ATGGGGCTGAAGAGTGGTGAT	0.547000													82	137					0	0	0.003610	0	0
DAB2	1601	broad.mit.edu	37	5	39377257	39377257	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr5:39377257G>A	ENST00000545653.1	-	11	2099	c.1569C>T	c.(1567-1569)gtC>gtT	p.V523V	DAB2_ENST00000339788.6_Silent_p.V326V|DAB2_ENST00000320816.6_Silent_p.V544V|DAB2_ENST00000509337.1_Silent_p.V523V	NM_001244871.1	NP_001231800.1	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	544					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			TACCAAAAATGACGGGCTGAC	0.537000											OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	65					0	0	0.003163	0	0
POLQ	10721	broad.mit.edu	37	3	121206697	121206697	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr3:121206697G>A	ENST00000264233.5	-	16	5209	c.5081C>T	c.(5080-5082)tCa>tTa	p.S1694L		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1694					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AGAAGAAAATGAAATTCCCTG	0.308000								DNA polymerases (catalytic subunits)					14	63					0	0	0.003163	0	0
DDHD1	80821	broad.mit.edu	37	14	53525280	53525280	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr14:53525280G>A	ENST00000357758.3	-	9	2090	c.1907C>T	c.(1906-1908)cCa>cTa	p.P636L	DDHD1_ENST00000323669.5_Missense_Mutation_p.P636L|DDHD1_ENST00000395606.1_Missense_Mutation_p.P643L	NM_030637.2	NP_085140.2	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	636	DDHD.				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					AGTATTTCCTGGGCGGATGCC	0.383000													15	40					0	0	0.002450	0	0
BAHCC1	57597	broad.mit.edu	37	17	79429066	79429066	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:79429066C>T	ENST00000307745.7	+	30	7377	c.7377C>T	c.(7375-7377)ccC>ccT	p.P2459P																								CGGGGAATCCCACACAGGTAG	0.662000													15	24					0	0	0.004007	0	0
COL5A2	1290	broad.mit.edu	37	2	189957116	189957116	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:189957116C>G	ENST00000374866.3	-	7	761	c.487G>C	c.(487-489)Gaa>Caa	p.E163Q		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	163					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ACACCTGGTTCTCCATCAATT	0.517000													5	13					0	0	0.001168	0	0
MAST1	22983	broad.mit.edu	37	19	12975980	12975980	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:12975980C>T	ENST00000251472.4	+	14	1665	c.1626C>T	c.(1624-1626)ttC>ttT	p.F542F		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	542	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CCCGAGAGTTCCTGGACAAAC	0.607000													17	43					0	0	0.001882	0	0
PLCL2	23228	broad.mit.edu	37	3	17052315	17052315	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr3:17052315C>T	ENST00000418129.2	+	2	1564	c.1099C>T	c.(1099-1101)Cag>Tag	p.Q367*	PLCL2_ENST00000396755.2_Nonsense_Mutation_p.Q367*|PLCL2_ENST00000432376.1_Nonsense_Mutation_p.Q367*|PLCL2_ENST00000460467.1_Intron	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	493					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						CATGACCTCTCAGATAGTTTT	0.398000													27	35					0	0	0.004656	0	0
UGT2B10	7365	broad.mit.edu	37	4	69696495	69696495	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr4:69696495C>T	ENST00000265403.7	+	6	1512	c.1485C>T	c.(1483-1485)ttC>ttT	p.F495F	UGT2B10_ENST00000458688.2_Silent_p.F411F	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	495					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TGATTGGGTTCCTGCTGGCTT	0.453000													29	75					0	0	0.008361	0	0
MMP15	4324	broad.mit.edu	37	16	58074457	58074457	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr16:58074457G>A	ENST00000219271.3	+	5	1550	c.765G>A	c.(763-765)ctG>ctA	p.L255L		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	255					protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						ACCTCTTCCTGGTGGCAGTGC	0.612000													26	41					0	0	0.006320	0	0
LILRA1	11024	broad.mit.edu	37	19	55106864	55106864	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:55106864C>T	ENST00000453777.1	+	5	828	c.658C>T	c.(658-660)Cta>Tta	p.L220L	LILRA1_ENST00000251372.3_Silent_p.L220L|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	220	Ig-like C2-type 2.		L -> P (in dbSNP:rs373854).		cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GCTCCTGGTCCTAGGTGAGAA	0.587000													20	97					0	0	0.001523	0	0
JMJD4	65094	broad.mit.edu	37	1	227921164	227921164	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:227921164C>T	ENST00000366758.3	-	4	910	c.911G>A	c.(910-912)gGc>gAc	p.G304D	SNAP47_ENST00000366760.1_Intron|JMJD4_ENST00000438896.2_Missense_Mutation_p.G304D|JMJD4_ENST00000485807.1_5'UTR|SNAP47_ENST00000480897.1_3'UTR	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4	304	JmjC.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				CACCATCTCGCCCGCTTCCTG	0.622000													31	24					0	0	0.002836	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130219668	130219668	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:130219668C>T	ENST00000276211.5	+	8	1407	c.1062C>T	c.(1060-1062)atC>atT	p.I354I	ARHGAP36_ENST00000370922.1_Silent_p.I342I|ARHGAP36_ENST00000370921.1_Silent_p.I218I	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	354	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TGCATAAAATCACTGAGAACT	0.498000													75	222					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179640203	179640203	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:179640203C>T	ENST00000589042.1	-	28	6612	c.6388G>A	c.(6388-6390)Gaa>Aaa	p.E2130K	TTN_ENST00000342175.6_Missense_Mutation_p.E2084K|TTN_ENST00000460472.2_Missense_Mutation_p.E2084K|TTN_ENST00000342992.6_Missense_Mutation_p.E2130K|TTN_ENST00000359218.5_Missense_Mutation_p.E2084K|TTN_ENST00000591111.1_Missense_Mutation_p.E2130K|TTN_ENST00000360870.5_Missense_Mutation_p.E2130K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1891	Ig-like 10.						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)			ACATTGTCTTCGGGCCAGTAC	0.483000													22	25					0	0	0.002299	0	0
MTTP	4547	broad.mit.edu	37	4	100527972	100527972	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr4:100527972G>A	ENST00000457717.1	+	12	1668	c.1412G>A	c.(1411-1413)aGg>aAg	p.R471K	MTTP_ENST00000265517.5_Missense_Mutation_p.R471K|MTTP_ENST00000511045.1_Missense_Mutation_p.R498K|RP11-766F14.1_ENST00000508578.1_RNA	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	471	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	GAGGACACCAGGATGTATCTG	0.458000													18	33					0	0	0.006122	0	0
TYW1B	441250	broad.mit.edu	37	7	72081809	72081809	+	RNA	SNP	T	T	C			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr7:72081809T>C	ENST00000438125.1	-	0	1246							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										GAACTTTCTCTGCAGTAGGTA	0.498000													6	75					0	0	0.008291	0	0
PLXND1	23129	broad.mit.edu	37	3	129291459	129291459	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr3:129291459C>T	ENST00000393239.1	-	15	3248	c.3070G>A	c.(3070-3072)Gag>Aag	p.E1024K	PLXND1_ENST00000324093.4_Missense_Mutation_p.E1024K			Q9Y4D7	PLXD1_HUMAN	plexin D1	1024	IPT/TIG 2.				axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TACATCAGCTCCGTGCAGGGG	0.637000													15	17					0	0	0.004007	0	0
RMI2	116028	broad.mit.edu	37	16	11444533	11444533	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr16:11444533C>T	ENST00000572173.1	+	5	786	c.141C>T	c.(139-141)gcC>gcT	p.A47A	RMI2_ENST00000576027.1_3'UTR|RMI2_ENST00000312499.5_Silent_p.A110A|RMI2_ENST00000381820.2_Silent_p.A47A			Q96E14	RMI2_HUMAN	RecQ mediated genome instability 2	110					DNA replication	nucleus	DNA binding			endometrium(1)|kidney(1)|ovary(1)	3						TGGTTCAGGCCTGCAGCCCTG	0.433000													21	163					0	0	0.002299	0	0
KIAA1462	57608	broad.mit.edu	37	10	30315749	30315749	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr10:30315749G>A	ENST00000375377.1	-	3	3429	c.3328C>T	c.(3328-3330)Cag>Tag	p.Q1110*		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	1110										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TCAGCAGGCTGGTTCTGTCCC	0.657000													62	20					0	0	0.003610	0	0
C2orf16	84226	broad.mit.edu	37	2	27802109	27802109	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:27802109C>T	ENST00000408964.2	+	1	2721	c.2670C>T	c.(2668-2670)tcC>tcT	p.S890S		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	890										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AATATCTCTCCACTATGCTAA	0.463000													34	99					0	0	0.005524	0	0
TENM3	55714	broad.mit.edu	37	4	183721183	183721183	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr4:183721183C>T	ENST00000511685.1	+	28	7902	c.7779C>T	c.(7777-7779)ttC>ttT	p.F2593F	TENM3_ENST00000406950.2_Silent_p.F2593F					teneurin transmembrane protein 3																		CGCGCAGGTTCGCGGACGTGG	0.692000													4	6					0	0	0.000248	0	0
SNHG14	104472715	broad.mit.edu	37	15	25442572	25442572	+	RNA	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr15:25442572G>A	ENST00000424208.1	+	0	1548				SNHG14_ENST00000456576.1_RNA	NR_003305.1																						CACTGGCCCCGGGAAAATGTC	0.597000													5	17					0	0	0.000602	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76482688	76482688	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr16:76482688C>T	ENST00000307431.8	+	7	1149	c.764C>T	c.(763-765)tCc>tTc	p.S255F	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.S259F|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.S231F|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.S255F	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	256	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CCTTCCACTTCCACCCTGGTC	0.463000													3	15					0	0	0.004672	0	0
SERTAD1	29950	broad.mit.edu	37	19	40929200	40929200	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:40929200G>A	ENST00000357949.4	-	2	412	c.254C>T	c.(253-255)gCt>gTt	p.A85V		NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	SERTA domain containing 1	85	SERTA.				positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(2)|lung(1)|prostate(1)|skin(1)	5			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGGCAGGGCAGCCGCGGGTGC	0.667000													7	15					0	0	0.004482	0	0
CTDP1	9150	broad.mit.edu	37	18	77474843	77474843	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr18:77474843C>T	ENST00000299543.7	+	8	1530	c.1383C>T	c.(1381-1383)agC>agT	p.S461S	CTDP1_ENST00000075430.7_Silent_p.S461S	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	461	Ser-rich.				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		GCGAGAGCAGCAGTGAGTCCG	0.677000													10	7					0	0	0.008291	0	0
COL6A6	131873	broad.mit.edu	37	3	130300460	130300460	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr3:130300460G>A	ENST00000358511.6	+	8	3634	c.3603G>A	c.(3601-3603)caG>caA	p.Q1201Q	COL6A6_ENST00000453409.2_Silent_p.Q1201Q	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1201	Nonhelical region.|VWFA 7.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AGAAAGGGCAGACTTTGCTTG	0.463000													29	69					0	0	0.002445	0	0
RWDD2B	10069	broad.mit.edu	37	21	30380788	30380788	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr21:30380788C>T	ENST00000493196.1	-	2	322	c.222G>A	c.(220-222)aaG>aaA	p.K74K	RWDD2B_ENST00000486719.1_5'UTR	NM_016940.2	NP_058636.1	P57060	RWD2B_HUMAN	RWD domain containing 2B	74	RWD.									endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						CCTCCATTGTCTTCTTTTCAA	0.403000													36	63					0	0	0.004289	0	0
HELZ2	85441	broad.mit.edu	37	20	62194214	62194214	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr20:62194214G>A	ENST00000467148.1	-	8	6030	c.5961C>T	c.(5959-5961)ttC>ttT	p.F1987F	HELZ2_ENST00000427522.2_Silent_p.F1418F	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		CCTCCAGGCGGAAGGCGCCCT	0.677000													4	27					0	0	0.000248	0	0
SLITRK6	84189	broad.mit.edu	37	13	86369803	86369803	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr13:86369803C>T	ENST00000400286.2	-	2	1439	c.841G>A	c.(841-843)Gga>Aga	p.G281R		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	281						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TGTAATGATCCTGAAGGATCC	0.408000													17	78					0	0	0.004007	0	0
ARSJ	79642	broad.mit.edu	37	4	114824459	114824459	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr4:114824459C>T	ENST00000315366.7	-	2	1637	c.771G>A	c.(769-771)aaG>aaA	p.K257K	ARSJ_ENST00000541197.1_Silent_p.K257K	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	257						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		AAAATATAGGCTTTGTGGGGT	0.418000													21	48					0	0	0.008871	0	0
SYT4	6860	broad.mit.edu	37	18	40850574	40850574	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr18:40850574C>T	ENST00000255224.3	-	4	1378	c.1010G>A	c.(1009-1011)aGa>aAa	p.R337K	SYT4_ENST00000590752.1_Missense_Mutation_p.R319K|SYT4_ENST00000586678.1_Intron	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	337	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						CTTGGAGATTCTCTTTTTGGC	0.428000													26	31					0	0	0.002096	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21472326	21472326	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr12:21472326C>T	ENST00000390670.3	-	2	271	c.34G>A	c.(34-36)Gaa>Aaa	p.E12K	SLCO1A2_ENST00000307378.6_Intron|SLCO1A2_ENST00000452078.1_Intron|SLCO1A2_ENST00000537524.1_Intron|SLCO1A2_ENST00000458504.1_Intron|SLCO1A2_ENST00000473830.1_Intron			P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	0					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						tccactctttcctgttcttgc	0.403000													56	48					0	0	0.003610	0	0
PHC2	1912	broad.mit.edu	37	1	33840973	33840973	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:33840973G>A	ENST00000257118.5	-	1	221	c.168C>T	c.(166-168)acC>acT	p.T56T	PHC2_ENST00000419414.2_Silent_p.T56T|PHC2_ENST00000373416.1_5'UTR|PHC2_ENST00000431992.1_Silent_p.T56T	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	56	Gln-rich.				multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TTACCTGCACGGTCTGCCGGT	0.537000													39	50					0	0	0.002522	0	0
FAM73B	84895	broad.mit.edu	37	9	131832549	131832549	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr9:131832549G>A	ENST00000358369.4	+	16	1825	c.1599G>A	c.(1597-1599)agG>agA	p.R533R	FAM73B_ENST00000406926.2_3'UTR|FAM73B_ENST00000277475.5_3'UTR	NM_032809.2	NP_116198.2	Q7L4E1	FA73B_HUMAN	family with sequence similarity 73, member B	533						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						AGTACCTGAGGGACATGTTCG	0.642000													23	67					0	0	0.008361	0	0
MMEL1	79258	broad.mit.edu	37	1	2522449	2522449	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:2522449C>T	ENST00000288709.6	-	24	2533	c.2293G>A	c.(2293-2295)Gag>Aag	p.E765K	FAM213B_ENST00000419916.2_3'UTR|FAM213B_ENST00000484099.1_3'UTR|MMEL1_ENST00000502556.1_Missense_Mutation_p.E617K|FAM213B_ENST00000444521.2_3'UTR|MMEL1_ENST00000378412.3_Missense_Mutation_p.E774K|FAM213B_ENST00000378424.4_3'UTR|FAM213B_ENST00000378425.5_3'UTR	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	774					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CGGCATCGCTCCTTGGGGTGC	0.701000													7	13					0	0	0.004482	0	0
MYO9B	4650	broad.mit.edu	37	19	17306107	17306107	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:17306107C>T	ENST00000595618.1	+	22	4023	c.3871C>T	c.(3871-3873)Ccc>Tcc	p.P1291S	MYO9B_ENST00000594824.1_Missense_Mutation_p.P1291S|MYO9B_ENST00000397274.2_Missense_Mutation_p.P1291S	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	1291	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GCCCGACAGCCCCGGAGGCTC	0.711000													28	35					0	0	0.008361	0	0
OR51B5	282763	broad.mit.edu	37	11	5364610	5364610	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr11:5364610C>T	ENST00000300773.2	-	1	199	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K	HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTGTGATCTTCCTTAATGAGA	0.498000													23	31					0	0	0.002299	0	0
UTP14C	9724	broad.mit.edu	37	13	52603949	52603949	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr13:52603949C>T	ENST00000521776.2	+	2	1742	c.1009C>T	c.(1009-1011)Cag>Tag	p.Q337*		NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	337					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		ACAGAAACTCCAGGTAGCCTC	0.507000													17	74					0	0	0.006122	0	0
TLDC1	57707	broad.mit.edu	37	16	84529504	84529504	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr16:84529504C>T	ENST00000343629.6	-	3	351	c.169G>A	c.(169-171)Gct>Act	p.A57T	TLDC1_ENST00000561807.1_5'UTR|RP11-517C16.4_ENST00000568771.1_RNA|TLDC1_ENST00000535580.1_Missense_Mutation_p.A30T	NM_020947.3	NP_065998.3			TBC/LysM-associated domain containing 1																		GGGGGAAGAGCTTCCCCGACG	0.527000													45	74					0	0	0.003610	0	0
DLEC1	9940	broad.mit.edu	37	3	38087060	38087060	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr3:38087060G>A	ENST00000308059.6	+	2	459	c.438G>A	c.(436-438)ctG>ctA	p.L146L	DLEC1_ENST00000346219.3_Silent_p.L146L|DLEC1_ENST00000452631.2_Silent_p.L146L			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	146					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		AGCAGCGGCTGGATGAGTTTG	0.498000													29	56					0	0	0.007291	0	0
BRINP1	1620	broad.mit.edu	37	9	121929549	121929549	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr9:121929549C>T	ENST00000265922.3	-	8	2560	c.2099G>A	c.(2098-2100)cGg>cAg	p.R700Q	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		700					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						AATTCGGTCCCGAATATCCAA	0.572000													30	128					0	0	0.006320	0	0
P4HA1	5033	broad.mit.edu	37	10	74813221	74813221	+	Silent	SNP	G	G	C			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr10:74813221G>C	ENST00000412021.2	-	7	924	c.591C>G	c.(589-591)ggC>ggG	p.G197G	P4HA1_ENST00000263556.3_Silent_p.G197G|P4HA1_ENST00000394890.2_Silent_p.G197G|P4HA1_ENST00000373008.2_Silent_p.G197G|P4HA1_ENST00000307116.2_Silent_p.G197G|P4HA1_ENST00000440381.1_Silent_p.G197G	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	197						endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TAGAAATCTCGCCTTCATCCA	0.448000													18	46					0	0	0.007413	0	0
FREM2	341640	broad.mit.edu	37	13	39262547	39262547	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr13:39262547A>G	ENST00000280481.7	+	1	1282	c.1066A>G	c.(1066-1068)Atc>Gtc	p.I356V		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	356					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGACCTGTTGATCTTCAACCT	0.577000													26	61					0	0	0.003330	0	0
OR2F1	26211	broad.mit.edu	37	7	143657601	143657601	+	Missense_Mutation	SNP	G	G	A	rs112027056		TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr7:143657601G>A	ENST00000392899.1	+	1	575	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					CATATCCTGTGAACTCCTAGC	0.502000													42	28					0	0	0.007835	0	0
KRT15	3866	broad.mit.edu	37	17	39672217	39672217	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:39672217G>A	ENST00000254043.3	-	5	4531	c.946C>T	c.(946-948)Cag>Tag	p.Q316*	KRT15_ENST00000393974.3_Nonsense_Mutation_p.Q151*|KRT15_ENST00000393981.3_Nonsense_Mutation_p.Q151*|KRT15_ENST00000393976.2_Nonsense_Mutation_p.Q316*	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN	keratin 15	316	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				TTGCTGGTCTGGATCATTTCT	0.592000													51	134					0	0	0.003610	0	0
ZNF831	128611	broad.mit.edu	37	20	57766216	57766216	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr20:57766216C>T	ENST00000371030.2	+	1	142	c.142C>T	c.(142-144)Ctg>Ttg	p.L48L		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	48	Pro-rich.					intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGAGCAGGGCCTGGCCCCCCC	0.731000													6	21					0	0	0.003080	0	0
LCT	3938	broad.mit.edu	37	2	136570389	136570389	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:136570389C>T	ENST00000264162.2	-	7	1855	c.1845G>A	c.(1843-1845)gaG>gaA	p.E615E		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	615	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CTCTCAGGTCCTCAGGCCTCT	0.602000													13	46					0	0	0.002450	0	0
ZNF222	7673	broad.mit.edu	37	19	44537123	44537123	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:44537123G>A	ENST00000187879.8	+	4	1458	c.1296G>A	c.(1294-1296)aaG>aaA	p.K432K	ZNF223_ENST00000591793.1_Intron|ZNF222_ENST00000391960.3_Silent_p.K472K	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	432					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				ACTGTGGGAAGCGCTACAAGA	0.373000													9	35					0	0	0.004482	0	0
WDR90	197335	broad.mit.edu	37	16	706315	706315	+	Silent	SNP	C	C	G			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr16:706315C>G	ENST00000549091.1	+	18	2072	c.1980C>G	c.(1978-1980)ccC>ccG	p.P660P	WDR90_ENST00000293879.4_Silent_p.P660P	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	660										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				ACGAGGGCCCCGTCAGCTCAG	0.697000													23	22					0	0	0.007291	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54919598	54919598	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr3:54919598G>A	ENST00000474759.1	+	23	2089	c.2041G>A	c.(2041-2043)Gaa>Aaa	p.E681K	CACNA2D3_ENST00000490478.1_Missense_Mutation_p.E587K|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.E681K|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.E681K|CACNA2D3-AS1_ENST00000471265.1_RNA	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	681						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		AAAAGGCAAAGAACCTCTGCT	0.468000													9	20					0	0	0.006214	0	0
NRXN1	9378	broad.mit.edu	37	2	51254796	51254796	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:51254796C>T	ENST00000404971.1	-	2	1955	c.616G>A	c.(616-618)Gat>Aat	p.D206N	NRXN1_ENST00000406316.2_Missense_Mutation_p.D206N|NRXN1_ENST00000401669.2_Missense_Mutation_p.D206N|NRXN1_ENST00000402717.3_Missense_Mutation_p.D206N|NRXN1_ENST00000405581.1_Missense_Mutation_p.D206N|NRXN1_ENST00000405472.3_Missense_Mutation_p.D206N|NRXN1_ENST00000406859.3_Missense_Mutation_p.D206N	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	206	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GGCGGCTCATCGTCCAGCTTC	0.697000													9	5					0	0	0.008291	0	0
CHST6	4166	broad.mit.edu	37	16	75513664	75513664	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr16:75513664G>A	ENST00000332272.4	-	3	242	c.63C>T	c.(61-63)ctC>ctT	p.L21L	CHST6_ENST00000390664.2_Silent_p.L21L|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	21					keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GAAAGAGGAGGAGGAAGGTCT	0.701000													7	14					0	0	0.001984	0	0
USP36	57602	broad.mit.edu	37	17	76799935	76799935	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:76799935G>A	ENST00000312010.6	-	16	2666	c.2342C>T	c.(2341-2343)tCg>tTg	p.S781L	USP36_ENST00000542802.2_Missense_Mutation_p.S781L|USP36_ENST00000449938.2_Intron	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	781					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.S781L(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CAGCGCCGTCGAGATGGAGGA	0.637000													65	53					0	0	0.003610	0	0
ZNF845	91664	broad.mit.edu	37	19	53855689	53855689	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:53855689C>T	ENST00000458035.1	+	4	1878	c.1761C>T	c.(1759-1761)gtC>gtT	p.V587V	ZNF845_ENST00000595091.1_Silent_p.V587V	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	587					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GTCACCAAGTCTTTAGTAATG	0.378000													7	14					0	0	0.001984	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5240004	5240004	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr5:5240004C>T	ENST00000274181.7	+	16	2627	c.2489C>T	c.(2488-2490)gCt>gTt	p.A830V		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	830	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						AACTTAATCGCTACTGGACCA	0.507000													75	54					0	0	0.003610	0	0
C2orf16	84226	broad.mit.edu	37	2	27802108	27802108	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:27802108C>T	ENST00000408964.2	+	1	2720	c.2669C>T	c.(2668-2670)tCc>tTc	p.S890F		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	890										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AAATATCTCTCCACTATGCTA	0.463000													35	94					0	0	0.006230	0	0
HSPBP1	23640	broad.mit.edu	37	19	55776708	55776708	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:55776708G>A	ENST00000255631.5	-	8	1253	c.943C>T	c.(943-945)Ctg>Ttg	p.L315L	HSPBP1_ENST00000433386.2_Silent_p.L315L|HSPBP1_ENST00000376343.3_Silent_p.L213L|HSPBP1_ENST00000587922.1_Silent_p.L315L	NM_001130106.1|NM_012267.4	NP_001123578.1|NP_036399.3	Q9NZL4	HPBP1_HUMAN	HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1	318					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding		enzyme inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		TCCAGGCCCAGTTCCGGCTCC	0.647000													32	101					0	0	0.003755	0	0
RGAG4	340526	broad.mit.edu	37	X	71350311	71350311	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:71350311C>T	ENST00000545866.1	-	1	1447	c.1080G>A	c.(1078-1080)aaG>aaA	p.K360K	NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000479991.1_Silent_p.K360K			Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	360										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					TCCTCTGGTCCTTGGAGTGAA	0.493000													20	9					0	0	0.007413	0	0
PPEF1	5475	broad.mit.edu	37	X	18836172	18836172	+	Nonsense_Mutation	SNP	A	A	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chrX:18836172A>T	ENST00000543630.1	+	14	1561	c.1081A>T	c.(1081-1083)Aaa>Taa	p.K361*	PPEF1_ENST00000349874.5_Missense_Mutation_p.E408D|PPEF1_ENST00000361511.4_Missense_Mutation_p.E470D|PPEF1_ENST00000359763.6_Missense_Mutation_p.E417D|PPEF1_ENST00000544635.1_Missense_Mutation_p.E405D			O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	0	Catalytic.				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	p.E470E(1)		breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					ATACTATGGAAAACAGCGCCA	0.328000													53	57					0	0	0.003610	0	0
SEZ6L	23544	broad.mit.edu	37	22	26736542	26736542	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr22:26736542C>T	ENST00000529632.2	+	10	2352	c.2156C>T	c.(2155-2157)tCg>tTg	p.S719L	SEZ6L_ENST00000404234.3_Missense_Mutation_p.S719L|SEZ6L_ENST00000248933.6_Missense_Mutation_p.S719L|SEZ6L_ENST00000343706.4_Missense_Mutation_p.S719L|SEZ6L_ENST00000403121.1_Missense_Mutation_p.S492L|SEZ6L_ENST00000360929.3_Missense_Mutation_p.S719L|SEZ6L_ENST00000402979.1_Missense_Mutation_p.S492L	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	719	CUB 3.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CAGTTCCATTCGGACCCTGCT	0.498000													39	14					0	0	0.002222	0	0
ADIPOQ	9370	broad.mit.edu	37	3	186572200	186572200	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr3:186572200G>A	ENST00000412955.2	+	3	583	c.442G>A	c.(442-444)Ggt>Agt	p.G148S	ADIPOQ-AS1_ENST00000422718.1_RNA|ADIPOQ_ENST00000320741.2_Missense_Mutation_p.G148S|ADIPOQ_ENST00000444204.2_Missense_Mutation_p.G148S			Q15848	ADIPO_HUMAN	adiponectin, C1Q and collagen domain containing	148	C1q.				brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of blood pressure|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of MAP kinase activity|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of transcription, DNA-dependent|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor	collagen|endoplasmic reticulum|extracellular space	cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2)	16	all_cancers(143;1.2e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.47e-19)	GBM - Glioblastoma multiforme(93;0.0776)		TGGCTCCACTGGTAAATTCCA	0.453000													38	45					0	0	0.005524	0	0
NLRP5	126206	broad.mit.edu	37	19	56539572	56539572	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:56539572C>T	ENST00000390649.3	+	7	1973	c.1973C>T	c.(1972-1974)cCc>cTc	p.P658L		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	658						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TGTCCCGTTCCCCTGGGGGTG	0.587000													51	47					0	0	0.003610	0	0
SEC14L5	9717	broad.mit.edu	37	16	5056031	5056031	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr16:5056031C>T	ENST00000251170.7	+	12	1599	c.1419C>T	c.(1417-1419)ttC>ttT	p.F473F		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	473	CRAL-TRIO.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						TCCCTGACTTCCTTGGGGGAG	0.587000													23	33					0	0	0.004656	0	0
ADORA1	134	broad.mit.edu	37	1	203134630	203134630	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:203134630C>T	ENST00000367236.4	+	3	1504	c.583C>T	c.(583-585)Ctc>Ttc	p.L195F	ADORA1_ENST00000309502.3_Missense_Mutation_p.L195F|ADORA1_ENST00000472535.1_3'UTR|ADORA1_ENST00000367235.1_3'UTR|ADORA1_ENST00000337894.4_Missense_Mutation_p.L195F	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	195					induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	CCCGCTTCTCCTCATGGTCCT	0.552000													19	113					0	0	0.001523	0	0
LST3	0	broad.mit.edu	37	12	21196278	21196278	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr12:21196278G>A	ENST00000381541.3	+	7	803	c.738G>A	c.(736-738)agG>agA	p.R246R	SLCO1B7_ENST00000421593.2_Silent_p.R199R|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000554957.1_Silent_p.R246R|LST3_ENST00000540229.1_Intron																							GCACTATCAGGATAACTCCTA	0.378000													40	102					0	0	0.003214	0	0
TEX10	54881	broad.mit.edu	37	9	103111476	103111476	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr9:103111476A>C	ENST00000374902.4	-	2	346	c.170T>G	c.(169-171)cTt>cGt	p.L57R	TEX10_ENST00000537512.1_Intron|TEX10_ENST00000535814.1_Missense_Mutation_p.L60R	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	57						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		CTTTATGTTAAGTTTTCTATT	0.289000													20	13					0	0	0.001523	0	0
DDX43	55510	broad.mit.edu	37	6	74116114	74116114	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr6:74116114G>A	ENST00000370336.4	+	7	993	c.835G>A	c.(835-837)Gga>Aga	p.G279R	DDX43_ENST00000539829.1_3'UTR	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	279	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TGTGTTGCAAGGAATAGATCT	0.428000													17	43					0	0	0.004990	0	0
WFS1	7466	broad.mit.edu	37	4	6288872	6288872	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr4:6288872C>T	ENST00000226760.1	+	3	455	c.285C>T	c.(283-285)gcC>gcT	p.A95A	WFS1_ENST00000503569.1_Silent_p.A95A	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	95					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		TGGAGAGGGCCAAGGCCGGGG	0.592000													64	142					0	0	0.003610	0	0
CHGB	1114	broad.mit.edu	37	20	5904000	5904000	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr20:5904000G>A	ENST00000378961.4	+	4	1414	c.1210G>A	c.(1210-1212)Gaa>Aaa	p.E404K		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	404						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						ATATGGTGAAGAAAGTGAGGA	0.542000													19	93					0	0	0.008871	0	0
COL5A1	1289	broad.mit.edu	37	9	137659200	137659200	+	Splice_Site	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr9:137659200G>A	ENST00000371817.3	+	24	2646	c.2232_splice	c.e24+1	p.K744_splice		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	744	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CAGGAGAAAAGGTAGGTGGGC	0.612000													11	36					0	0	0.001368	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125547701	125547701	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:125547701G>A	ENST00000431078.1	+	18	3336	c.2972G>A	c.(2971-2973)gGg>gAg	p.G991E		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	991	EGF-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CCTTATGAAGGGCCCTTTTGC	0.522000													11	37					0	0	0.008291	0	0
TEP1	7011	broad.mit.edu	37	14	20856222	20856222	+	Splice_Site	SNP	C	C	G			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr14:20856222C>G	ENST00000262715.5	-	18	2566	c.2525_splice	c.e18-1	p.K842_splice	TEP1_ENST00000556935.1_Splice_Site_p.K734_splice	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	842					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CTGCAATGAACCTGACATAAA	0.468000													18	16					0	0	0.007413	0	0
GAA	2548	broad.mit.edu	37	17	78090819	78090819	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:78090819G>A	ENST00000302262.3	+	16	2461	c.2242G>A	c.(2242-2244)Gag>Aag	p.E748K	GAA_ENST00000390015.3_Missense_Mutation_p.E748K	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	748					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	CCTGTGGGGGGAGGCCCTGCT	0.632000													11	50					0	0	0.001368	0	0
TRPM5	29850	broad.mit.edu	37	11	2443397	2443397	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr11:2443397C>T	ENST00000452833.1	-	2	280	c.272G>A	c.(271-273)gGg>gAg	p.G91E	TRPM5_ENST00000528453.1_Missense_Mutation_p.G91E|TRPM5_ENST00000155858.6_Missense_Mutation_p.G91E|TRPM5_ENST00000533060.1_Missense_Mutation_p.G91E			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	91						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CTTCACCAGCCCCTTGCGCAG	0.701000													10	105					0	0	0.006214	0	0
ADCY8	114	broad.mit.edu	37	8	131848589	131848589	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr8:131848589G>A	ENST00000286355.5	-	12	4701	c.2609C>T	c.(2608-2610)gCc>gTc	p.A870V	ADCY8_ENST00000377928.3_Missense_Mutation_p.A739V	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	870					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AGTGAGCAGGGCATAGATGGC	0.557000										HNSCC(32;0.087)			49	43					0	0	0.003610	0	0
LILRP2	79166	broad.mit.edu	37	19	55221995	55221995	+	RNA	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:55221995C>T	ENST00000413439.1	+	0	1522																											TGGACACTTTCCTTCTGACCA	0.622000													15	39					0	0	0.002450	0	0
TC2N	123036	broad.mit.edu	37	14	92268739	92268739	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr14:92268739G>A	ENST00000435962.2	-	4	651	c.328C>T	c.(328-330)Cga>Tga	p.R110*	TC2N_ENST00000556018.1_Nonsense_Mutation_p.R110*|TC2N_ENST00000360594.5_Nonsense_Mutation_p.R110*|TC2N_ENST00000340892.5_Nonsense_Mutation_p.R110*	NM_001128596.1	NP_001122068.1	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	110						nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		TCTACCTTTCGATCTCCAAAA	0.418000													9	33					0	0	0.008291	0	0
CDH22	64405	broad.mit.edu	37	20	44839064	44839064	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr20:44839064C>T	ENST00000372262.3	-	6	1568	c.1168G>A	c.(1168-1170)Gag>Aag	p.E390K	CDH22_ENST00000474438.1_5'UTR|CDH22_ENST00000537909.1_Missense_Mutation_p.E390K	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	390	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				TCGGGGGGCTCGTCCACGTCG	0.736000													14	6					0	0	0.003163	0	0
ANK2	287	broad.mit.edu	37	4	114254312	114254312	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr4:114254312C>G	ENST00000357077.4	+	29	3380	c.3327C>G	c.(3325-3327)ttC>ttG	p.F1109L	ANK2_ENST00000506722.1_Missense_Mutation_p.F1100L|ANK2_ENST00000264366.6_Missense_Mutation_p.F1076L|ANK2_ENST00000509550.1_Missense_Mutation_p.F285L|ANK2_ENST00000394537.3_Missense_Mutation_p.F1109L	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1076	Interaction with SPTBN1.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AAGAGCATTTCTGTGACTACA	0.453000													26	31					0	0	0.005443	0	0
DCAF4L1	285429	broad.mit.edu	37	4	41984913	41984913	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr4:41984913C>T	ENST00000333141.5	+	1	1201	c.1104C>T	c.(1102-1104)ttC>ttT	p.F368F		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	368										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						GCGTGGCCTTCGCTTCTCGGC	0.607000													10	22					0	0	0.006214	0	0
ERN2	10595	broad.mit.edu	37	16	23707279	23707279	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr16:23707279C>T	ENST00000256797.4	-	14	1858	c.1690G>A	c.(1690-1692)Ggg>Agg	p.G564R	ERN2_ENST00000457008.2_Missense_Mutation_p.G464R	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	516	Protein kinase.				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GAAATCTTCCCCACTACGGTG	0.637000													10	54					0	0	0.001368	0	0
RBM12	10137	broad.mit.edu	37	20	34241641	34241641	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr20:34241641G>A	ENST00000374114.3	-	3	1867	c.1604C>T	c.(1603-1605)cCa>cTa	p.P535L	RBM12_ENST00000374104.3_Missense_Mutation_p.P535L|CPNE1_ENST00000397443.1_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.P535L|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000317619.3_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	535						nucleus	nucleotide binding|protein binding|RNA binding			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			ATCCCCCTCTGGATTTAGTAT	0.393000													62	197					0	0	0.003610	0	0
NLRP4	147945	broad.mit.edu	37	19	56369277	56369277	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:56369277C>G	ENST00000301295.6	+	3	940	c.518C>G	c.(517-519)tCg>tGg	p.S173W	NLRP4_ENST00000346986.5_Missense_Mutation_p.S173W|NLRP4_ENST00000587891.1_Missense_Mutation_p.S98W	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	173	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		ATGGCCTGGTCGGACAACAAG	0.498000													71	67					0	0	0.003610	0	0
GLI4	2738	broad.mit.edu	37	8	144358717	144358717	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr8:144358717G>A	ENST00000340042.1	+	4	959	c.874G>A	c.(874-876)Gag>Aag	p.E292K	GLI4_ENST00000523522.1_Missense_Mutation_p.E292K|GLI4_ENST00000523812.1_3'UTR	NM_138465.3	NP_612474.1	P10075	GLI4_HUMAN	GLI family zinc finger 4	292						nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(5)	9	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GCACACGGGTGAGAAGCCCTA	0.657000													8	8					0	0	0.003080	0	0
NLK	51701	broad.mit.edu	37	17	26370206	26370206	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:26370206C>T	ENST00000407008.3	+	1	1025	c.307C>T	c.(307-309)Cct>Tct	p.P103S	NLK_ENST00000582037.1_Missense_Mutation_p.P103S|NLK_ENST00000583517.1_3'UTR	NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	103					intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GGGGCAGGCTCCTGGACCAGC	0.627000													26	32					0	0	0.003330	0	0
CREB3L3	84699	broad.mit.edu	37	19	4171723	4171723	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:4171723C>T	ENST00000252587.3	+	7	952	c.809C>T	c.(808-810)cCc>cTc	p.P270L	CREB3L3_ENST00000602147.1_3'UTR|CREB3L3_ENST00000595923.1_Silent_p.A380A|CREB3L3_ENST00000602257.1_Silent_p.A379A|CREB3L3_ENST00000078445.2_Silent_p.A381A			Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	97					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCCGAGGCCCCAGGACCCC	0.637000													37	117					0	0	0.006230	0	0
TMEM184B	25829	broad.mit.edu	37	22	38622800	38622800	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr22:38622800C>T	ENST00000361906.3	-	6	811	c.603G>A	c.(601-603)cgG>cgA	p.R201R	TMEM184B_ENST00000464059.1_5'UTR|TMEM184B_ENST00000361684.4_Silent_p.R201R	NM_001195072.1|NM_012264.4	NP_001182001.1|NP_036396.2	Q9Y519	T184B_HUMAN	transmembrane protein 184B	201						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					AGTCCCCATCCCGGTACTTGC	0.637000													14	3					0	0	0.002450	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713840	70713840	+	RNA	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr14:70713840C>T	ENST00000530196.1	-	0	678					NR_003951.1																						TGGCGTGCTACTTCCTTCTCT	0.458000													17	41					0	0	0.004007	0	0
VWA7	80737	broad.mit.edu	37	6	31733506	31733506	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr6:31733506G>A	ENST00000375688.4	-	17	2741	c.2541C>T	c.(2539-2541)ctC>ctT	p.L847L	VWA7_ENST00000375686.3_3'UTR			Q9Y334	G7C_HUMAN	von Willebrand factor A domain containing 7	847						extracellular region											TGGCCGTGGTGAGGATCGGGT	0.607000													188	250					0	0	0.003610	0	0
LRP2	4036	broad.mit.edu	37	2	170097612	170097612	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:170097612G>A	ENST00000263816.3	-	25	4216	c.3931C>T	c.(3931-3933)Cgc>Tgc	p.R1311C	LRP2_ENST00000443831.1_Missense_Mutation_p.R1174C	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1311	LDL-receptor class A 15.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CTAGGACAGCGAAAGGGCTGA	0.517000													26	90					0	0	0.003330	0	0
PRND	23627	broad.mit.edu	37	20	4705311	4705311	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr20:4705311G>A	ENST00000305817.2	+	2	185	c.114G>A	c.(112-114)aaG>aaA	p.K38K		NM_012409.2	NP_036541.2	Q9UKY0	PRND_HUMAN	prion protein 2 (dublet)	38	Flexible tail.				protein homooligomerization	anchored to membrane|plasma membrane				breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						GGAACCGGAAGGCCCTGCCCA	0.617000													37	18					0	0	0.003755	0	0
HIST1H3C	8352	broad.mit.edu	37	6	26045730	26045730	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr6:26045730C>T	ENST00000540144.1	+	1	92	c.92C>T	c.(91-93)cCg>cTg	p.P31L		NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	31					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						AAGAGCGCTCCGGCCACCGGT	0.612000													31	44					0	0	0.008361	0	0
CCDC178	374864	broad.mit.edu	37	18	30913285	30913285	+	Silent	SNP	A	A	G			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr18:30913285A>G	ENST00000383096.3	-	10	914	c.732T>C	c.(730-732)caT>caC	p.H244H	CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000402325.1_Silent_p.H244H|CCDC178_ENST00000403303.1_Silent_p.H244H|CCDC178_ENST00000300227.8_Silent_p.H244H|CCDC178_ENST00000406524.2_Silent_p.H244H|CCDC178_ENST00000583930.1_Silent_p.H244H|CCDC178_ENST00000579947.1_Silent_p.H244H					coiled-coil domain containing 178																		GTTTTTCAAAATGTTGTAGTT	0.348000													23	45					0	0	0.002780	0	0
FAM81A	145773	broad.mit.edu	37	15	59784513	59784513	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr15:59784513G>A	ENST00000288228.5	+	4	525	c.338G>A	c.(337-339)gGa>gAa	p.G113E		NM_152450.2	NP_689663.2	Q8TBF8	FA81A_HUMAN	family with sequence similarity 81, member A	113										endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						ATTAGCTATGGAACTAATTCT	0.488000													10	25					0	0	0.001368	0	0
UNC13A	23025	broad.mit.edu	37	19	17783262	17783262	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:17783262C>T	ENST00000428389.2	-	5	458	c.459G>A	c.(457-459)tgG>tgA	p.W153*	UNC13A_ENST00000252773.7_Nonsense_Mutation_p.W65*|UNC13A_ENST00000550896.1_Nonsense_Mutation_p.W65*|UNC13A_ENST00000552293.1_Nonsense_Mutation_p.W65*|UNC13A_ENST00000551649.1_Nonsense_Mutation_p.W65*|UNC13A_ENST00000519716.2_Nonsense_Mutation_p.W65*			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	65					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GACCCTTATTCCACACCTCCA	0.607000													24	25					0	0	0.006320	0	0
PLD1	5337	broad.mit.edu	37	3	171329403	171329403	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr3:171329403G>A	ENST00000340989.4	-	26	3019	c.2904C>T	c.(2902-2904)gtC>gtT	p.V968V	PLD1_ENST00000342215.6_Intron|PLD1_ENST00000356327.5_Intron|PLD1_ENST00000351298.4_Intron			Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	0					cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	AGGGATCTTCGACACCTGGAG	0.403000													11	37					0	0	0.000978	0	0
TEX14	56155	broad.mit.edu	37	17	56700313	56700313	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:56700313G>A	ENST00000389934.3	-	4	429	c.312C>T	c.(310-312)atC>atT	p.I104I	TEX14_ENST00000349033.5_Silent_p.I104I|TEX14_ENST00000240361.8_Silent_p.I104I	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	104						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTTTGCTAAGGATCCACTGAT	0.547000													21	23					0	0	0.008871	0	0
MYH1	4619	broad.mit.edu	37	17	10399285	10399285	+	Silent	SNP	A	A	G			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:10399285A>G	ENST00000226207.5	-	35	5245	c.5151T>C	c.(5149-5151)gtT>gtC	p.V1717V	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1717						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						GCAGGAGCTGAACACGCTCAC	0.483000													17	35					0	0	0.004007	0	0
LILRB2	10288	broad.mit.edu	37	19	54782907	54782907	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr19:54782907C>T	ENST00000391748.1	-	6	842	c.715G>A	c.(715-717)Gaa>Aaa	p.E239K	LILRB2_ENST00000391746.1_Missense_Mutation_p.E239K|LILRB2_ENST00000391749.4_Missense_Mutation_p.E239K|LILRB2_ENST00000434421.1_Missense_Mutation_p.E123K|LILRB2_ENST00000314446.5_Missense_Mutation_p.E239K	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	239	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTCAGGCTTTCCCCAGGGGCC	0.592000													19	70					0	0	0.001523	0	0
SIK3	23387	broad.mit.edu	37	11	116729203	116729203	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr11:116729203G>A	ENST00000375300.1	-	20	2839	c.2834C>T	c.(2833-2835)tCg>tTg	p.S945L	SIK3_ENST00000375288.1_Missense_Mutation_p.S222L|SIK3_ENST00000292055.4_Missense_Mutation_p.S887L|SIK3_ENST00000542607.1_Missense_Mutation_p.S827L|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000446921.2_Missense_Mutation_p.S885L|SIK3_ENST00000434315.2_Missense_Mutation_p.S726L			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	887	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						CTGTAGTGCCGACGTGGTATA	0.592000													216	420					0	0	0.003610	0	0
ALDH2	217	broad.mit.edu	37	12	112235912	112235912	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr12:112235912G>A	ENST00000261733.2	+	10	1175	c.1114G>A	c.(1114-1116)Ggc>Agc	p.G372S	ALDH2_ENST00000416293.3_Missense_Mutation_p.G325S	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	372					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	GAAGATCCTCGGCTACATCAA	0.527000			T	HMGA2	leiomyoma								10	110					0	0	0.000978	0	0
LAMC2	3918	broad.mit.edu	37	1	183155552	183155552	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:183155552C>T	ENST00000264144.4	+	1	130	c.65C>T	c.(64-66)aCc>aTc	p.T22I	LAMC2_ENST00000493293.1_Missense_Mutation_p.T22I	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	22					cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						GCCCGGGCCACCTCCAGGAGG	0.657000													6	58					0	0	0.001984	0	0
OR5AN1	390195	broad.mit.edu	37	11	59132584	59132584	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr11:59132584C>T	ENST00000313940.2	+	1	700	c.653C>T	c.(652-654)tCc>tTc	p.S218F		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						ATCATGATATCCTATGGCTAT	0.423000													67	25					0	0	0.003610	0	0
CD200	4345	broad.mit.edu	37	3	112054804	112054804	+	Silent	SNP	A	A	G			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr3:112054804A>G	ENST00000473539.1	+	2	84	c.27A>G	c.(25-27)acA>acG	p.T9T	CD200_ENST00000315711.8_Intron|CD200_ENST00000383681.3_Intron|CD200_ENST00000607516.1_3'UTR	NM_001004196.2	NP_001004196.2	P41217	OX2G_HUMAN	CD200 molecule	0					regulation of immune response	integral to plasma membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05)				TGACCAGGACAATTGGGGGCC	0.458000													70	71					0	0	0.003610	0	0
OR1E1	8387	broad.mit.edu	37	17	3301561	3301561	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:3301561G>A	ENST00000322608.2	-	1	143	c.144C>T	c.(142-144)ctC>ctT	p.L48L		NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E, member 1	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(2)|lung(5)	10						CCAGTCGAATGAGGACAATGA	0.517000													31	43					0	0	0.006230	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37186539	37186539	+	RNA	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr17:37186539G>A	ENST00000425901.2	+	0	381					NR_033753.2																						TCCCCCTAAGGAGGTAGAACC	0.592000													4	19					0	0	0.000248	0	0
DNAH10	196385	broad.mit.edu	37	12	124272420	124272420	+	Silent	SNP	C	C	T	rs144145237		TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr12:124272420C>T	ENST00000409039.3	+	10	1333	c.1308C>T	c.(1306-1308)gcC>gcT	p.A436A		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	436	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGAAAAAGGCCTATTTTGACA	0.557000													11	30					0	0	0.001368	0	0
COL24A1	255631	broad.mit.edu	37	1	86375686	86375686	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:86375686C>T	ENST00000370571.2	-	26	2983	c.2616_splice	c.e26-1	p.G873_splice	COL24A1_ENST00000436319.1_Splice_Site_p.G873_splice	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	873	Collagen-like 6.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CCACGTTCTCCCTTTTAAGAG	0.383000													50	110					0	0	0.003610	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971208	21971208	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr9:21971208C>T	ENST00000579755.1	-	2	486		c.e2-1		CDKN2A_ENST00000498628.2_Splice_Site|CDKN2A_ENST00000530628.2_Splice_Site|CDKN2A_ENST00000446177.1_Splice_Site|CDKN2A_ENST00000578845.2_5'UTR|CDKN2A_ENST00000304494.5_Splice_Site|CDKN2A_ENST00000479692.2_Splice_Site|CDKN2A_ENST00000498124.1_Splice_Site|CDKN2A_ENST00000361570.3_Splice_Site|CDKN2A_ENST00000497750.1_Splice_Site|CDKN2A_ENST00000494262.1_Splice_Site|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Splice_Site			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A						cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(38)|p.0(1)|p.V28_V51del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCATCATGACCTGCCAGAGAG	0.667000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			37	22					0	0	0.004289	0	0
TRIM67	440730	broad.mit.edu	37	1	231335968	231335968	+	Silent	SNP	G	G	A			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:231335968G>A	ENST00000444294.3	+	4	2196	c.1338G>A	c.(1336-1338)gaG>gaA	p.E446E	TRIM67_ENST00000366652.2_Silent_p.E446E|TRIM67_ENST00000366653.5_Silent_p.E446E|TRIM67_ENST00000449018.3_Silent_p.E384E	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	446						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				ACTGCCTGGAGGTGATCAAGG	0.527000													97	71					0	0	0.003610	0	0
PTCHD2	57540	broad.mit.edu	37	1	11562836	11562836	+	Silent	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:11562836C>T	ENST00000294484.6	+	3	1336	c.1198C>T	c.(1198-1200)Ctg>Ttg	p.L400L	PTCHD2_ENST00000389575.3_Silent_p.L400L	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	400					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	p.L617M(1)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CAGTGAGATCCTGTTTGGAGC	0.562000													17	26					0	0	0.004007	0	0
MERTK	10461	broad.mit.edu	37	2	112740542	112740542	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr2:112740542C>T	ENST00000295408.4	+	8	1525	c.1268C>T	c.(1267-1269)tCc>tTc	p.S423F	MERTK_ENST00000409780.1_Missense_Mutation_p.S247F|MERTK_ENST00000421804.2_Missense_Mutation_p.S423F			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	423	Fibronectin type-III 2.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TACCGGATATCCCACGTGTGG	0.463000													17	56					0	0	0.007413	0	0
HAX1	10456	broad.mit.edu	37	1	154245864	154245866	+	In_Frame_Del	DEL	GAA	GAA	-	rs11556342		TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr1:154245864_154245866delGAA	ENST00000328703.7	+	2	319_321	c.106_108delGAA	c.(106-108)del	p.E40del	HAX1_ENST00000457918.2_Intron|HAX1_ENST00000483970.2_In_Frame_Del_p.E40del|HAX1_ENST00000532105.1_Intron	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	40	Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity).					actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGATGATGAGGAAGAAGAAGAAG	0.522									Kostmann syndrome				7	99	---	---	---	---					
GSDMC	56169	broad.mit.edu	37	8	130789808	130789808	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr8:130789808delC	ENST00000276708.4	-	2	907	c.26delG	c.(25-27)acfs	p.S9fs		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	9						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						CAAATTTTTGCTAATGCGTTC	0.403													33	76	---	---	---	---					
C9orf43	257169	broad.mit.edu	37	9	116187646	116187648	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr9:116187646_116187648delGCA	ENST00000288462.4	+	10	1334_1336	c.888_890delGCA	c.(886-891)cgg>cg	p.RQ296del	C9orf43_ENST00000374165.1_In_Frame_Del_p.RQ296del	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	296	Gln-rich.									breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						agcagcagcggcagcagcagcag	0.557													7	122	---	---	---	---					
CCDC81	60494	broad.mit.edu	37	11	86131005	86131014	+	Frame_Shift_Del	DEL	TAAATAGAGT	TAAATAGAGT	-	rs143827396	byFrequency	TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr11:86131005_86131014delTAAATAGAGT	ENST00000278487.3	+	13	2011_2020	c.932_941delTAAATAGAGT	c.(931-942)gcfs	p.VNRV311fs	CCDC81_ENST00000528728.1_Frame_Shift_Del_p.VNRV311fs|CCDC81_ENST00000445632.2_Frame_Shift_Del_p.VNRV576fs|CCDC81_ENST00000354755.1_Frame_Shift_Del_p.VNRV486fs			Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	576										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				CTGGAGCGAGTAAATAGAGTCAACCAATGC	0.514													30	24	---	---	---	---					
EMG1	10436	broad.mit.edu	37	12	7080210	7080211	+	RNA	INS	-	-	G	rs141646579	by1000genomes	TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr12:7080210_7080211insG	ENST00000546220.1	+	0	155_156				U47924.19_ENST00000564245.1_RNA|U47924.28_ENST00000261406.6_lincRNA			Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										CGGAGGCCGTAGTTTATTGTGG	0.569													9	19	---	---	---	---					
SNHG14	104472715	broad.mit.edu	37	15	25227366	25227367	+	RNA	INS	-	-	T			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr15:25227366_25227367insT	ENST00000551631.2	+	0	669_670				SNHG14_ENST00000551361.1_RNA	NR_001293.1																						TTCTGAGTTCCTTTTTTTTTCT	0.356													2	4	---	---	---	---					
GSE1	23199	broad.mit.edu	37	16	85682289	85682290	+	Frame_Shift_Ins	INS	-	-	C			TCGA-ER-A19D-06A-11D-A197-08	TCGA-ER-A19D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c21a5d55-9790-429f-a4e6-420293c07b53	36e999ee-96c4-47cc-865c-4eb8c9306c57	g.chr16:85682289_85682290insC	ENST00000253458.7	+	3	534_535	c.358_359insC	c.(358-360)cccfs	p.P120fs	GSE1_ENST00000393243.1_Frame_Shift_Ins_p.P47fs|GSE1_ENST00000405402.2_Frame_Shift_Ins_p.P16fs	NM_014615.2	NP_055430.1			Gse1 coiled-coil protein									p.V123fs*2(1)									CGTGCCCAGCACCCCCCCCGTG	0.688													7	172	---	---	---	---